BMP6 (bone morphogenetic protein 6) - Rat Genome Database

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Gene: BMP6 (bone morphogenetic protein 6) Homo sapiens
Analyze
Symbol: BMP6
Name: bone morphogenetic protein 6
RGD ID: 1353193
HGNC Page HGNC:1073
Description: Enables BMP receptor binding activity and protein heterodimerization activity. Involved in several processes, including BMP signaling pathway; multicellular organismal-level iron ion homeostasis; and positive regulation of biosynthetic process. Located in extracellular space. Part of enzyme activator complex. Biomarker of breast cancer; esophagus squamous cell carcinoma; prostate cancer; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-6; IO; vegetal related growth factor (TGFB-related); vegetal-related (TGFB related) cytokine; VG-1-R; VG-1-related protein; Vg1-related sequence; VGR; VGR-1; VGR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: BMP6P1  
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BMD4_H   BW324_H  
Candidate Gene For: BMD4_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3867,726,099 - 7,881,728 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl67,726,099 - 7,881,728 (+)EnsemblGRCh38hg38GRCh38
GRCh3767,726,332 - 7,881,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,672,010 - 7,826,960 (+)NCBINCBI36Build 36hg18NCBI36
Build 3467,672,008 - 7,826,726NCBI
Celera68,956,438 - 9,111,399 (+)NCBICelera
Cytogenetic Map6p24.3NCBI
HuRef67,604,128 - 7,759,039 (+)NCBIHuRef
CHM1_167,728,829 - 7,884,079 (+)NCBICHM1_1
T2T-CHM13v2.067,594,835 - 7,750,477 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-chloro-2,4-dinitrobenzene  (EXP)
1-phenyl-1-cyclopentanecarboxylic acid 2-[2-(diethylamino)ethoxy]ethyl ester  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-dichloroaniline  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-aminosalicylic acid  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetylsalicylic acid  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
alatrofloxacin  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
alpidem  (EXP)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
amodiaquine  (EXP)
apomorphine  (EXP)
arsenite(3-)  (EXP)
atropine  (ISO)
Benzamil  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
beta-lapachone  (EXP)
biperiden  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromfenac  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
Calcimycin  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
CGS 15943  (EXP)
chlorpyrifos  (ISO)
cobalt atom  (ISO)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
corticosterone  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DAPT  (EXP)
decabromodiphenyl ether  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (EXP)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP,ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
diphenhydramine  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (ISO)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ellagic acid  (EXP)
esculetin  (ISO)
esmolol  (EXP)
ethambutol  (EXP)
ethanol  (EXP,ISO)
etodolac  (EXP)
etoposide  (EXP)
eugenol  (EXP)
fenvalerate  (ISO)
ferric ammonium citrate  (EXP)
fludrocortisone  (EXP)
flutamide  (EXP)
folic acid  (ISO)
folpet  (ISO)
Fulvic acid  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
heparin  (EXP)
indometacin  (EXP)
Iproniazid  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
kenpaullone  (EXP)
ketoconazole  (EXP)
levofloxacin  (EXP)
lipopolysaccharide  (EXP,ISO)
lumiracoxib  (EXP)
mebendazole  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
nefazodone  (EXP)
nevirapine  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nimesulide  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
octreotide  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
pasireotide  (EXP)
penbutolol  (EXP)
pentacarbonyliron  (ISO)
perfluorooctanoic acid  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosgene  (ISO)
phosphane  (ISO)
pioglitazone  (EXP)
pirprofen  (EXP)
procyclidine  (EXP)
progesterone  (EXP,ISO)
propanal  (EXP)
protriptyline  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salidroside  (ISO)
SB 203580  (EXP,ISO)
SB 431542  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sotorasib  (EXP)
streptozocin  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tienilic acid  (EXP)
tipifarnib  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trazodone  (EXP)
tricetin  (EXP)
trichostatin A  (EXP)
triclosan  (EXP,ISO)
Trihexyphenidyl  (EXP)
triphenyl phosphate  (EXP)
triprolidine  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zafirlukast  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
BMP signaling pathway  (IBA,IDA,IEA,IMP)
bone development  (IDA)
cartilage development  (IEA)
cell differentiation  (IEA)
cellular response to BMP stimulus  (IMP)
cellular response to iron ion  (IEA,ISS)
cellular response to mechanical stimulus  (IEA,ISO)
endochondral ossification  (IEA)
eye development  (IEA)
immune response  (IMP)
inflammatory response  (IEA)
intracellular iron ion homeostasis  (IEA,ISS)
kidney development  (IEA)
male genitalia development  (IEA)
multicellular organismal-level iron ion homeostasis  (IEA,IMP,ISS)
negative regulation of adherens junction organization  (IDA)
negative regulation of cell-cell adhesion mediated by cadherin  (IDA)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
neuron differentiation  (IEA)
ossification  (IEA,ISO)
osteoblast differentiation  (IEA,ISO)
positive regulation of aldosterone biosynthetic process  (IDA)
positive regulation of aldosterone secretion  (IEA,ISO)
positive regulation of bone mineralization  (IDA)
positive regulation of cell population proliferation  (NAS)
positive regulation of chondrocyte differentiation  (IEA,ISO)
positive regulation of endothelial cell differentiation  (IEA)
positive regulation of endothelial cell proliferation  (IEA)
positive regulation of epithelial cell proliferation  (IDA)
positive regulation of gene expression  (IMP)
positive regulation of intracellular signal transduction  (IDA)
positive regulation of lipopolysaccharide-mediated signaling pathway  (IEA,ISS)
positive regulation of neuron differentiation  (IEA)
positive regulation of osteoblast differentiation  (IDA,IEA,ISO)
positive regulation of protein secretion  (NAS)
positive regulation of SMAD protein signal transduction  (IDA,IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IGI,ISS,NAS)
positive regulation of vascular permeability  (IDA)
response to activity  (IEA,ISO)
response to glucocorticoid  (IEA,ISO)
response to iron ion  (IEA,ISO)
response to magnesium ion  (IEA,ISO)
response to retinoic acid  (IEA,ISO)
signal transduction  (IEA)
skeletal system development  (TAS)
type B pancreatic cell development  (IDA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. A comprehensive expression survey of bone morphogenetic proteins in breast cancer highlights the importance of BMP4 and BMP7. Alarmo EL, etal., Breast Cancer Res Treat. 2007 Jun;103(2):239-46. Epub 2006 Sep 21.
2. Immunolocalization and mRNA expression of bone morphogenetic protein-6 in human clear cell renal carcinoma. Basic-Jukic N, etal., Kidney Blood Press Res. 2009;32(6):445-50. doi: 10.1159/000266479. Epub 2009 Dec 17.
3. Bone morphogenetic protein-6 promotes osteoblastic prostate cancer bone metastases through a dual mechanism. Dai J, etal., Cancer Res. 2005 Sep 15;65(18):8274-85.
4. BMP-6 over-expression in prostate cancer is associated with increased Id-1 protein and a more invasive phenotype. Darby S, etal., J Pathol. 2007 Dec 10;214(3):394-404.
5. Loss of endogenous bone morphogenetic protein-6 aggravates renal fibrosis. Dendooven A, etal., Am J Pathol. 2011 Mar;178(3):1069-79. doi: 10.1016/j.ajpath.2010.12.005.
6. BMP-6 and BMPR-1a are up-regulated in the growth plate of the fractured tibia. Fischerauer EE, etal., J Orthop Res. 2013 Mar;31(3):357-63. doi: 10.1002/jor.22238. Epub 2012 Oct 23.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. BMP signaling in rats with TNBS-induced colitis following BMP7 therapy. Maric I, etal., Am J Physiol Gastrointest Liver Physiol. 2012 May 15;302(10):G1151-62. doi: 10.1152/ajpgi.00244.2011. Epub 2012 Feb 23.
9. Expression of bone morphogenetic protein-6 and transforming growth factor-beta1 in the rat brain after a mild and reversible ischemic damage. Martinez G, etal., Brain Res. 2001 Mar 9;894(1):1-11.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Tissue remodeling in the acute otitis media mouse model. Sautter NB, etal., Int J Pediatr Otorhinolaryngol. 2011 Nov;75(11):1368-71. doi: 10.1016/j.ijporl.2011.07.026. Epub 2011 Sep 1.
15. Pathways for the regulation of hepcidin expression in anemia of chronic disease and iron deficiency anemia in vivo. Theurl I, etal., Haematologica. 2011 Dec;96(12):1761-9. doi: 10.3324/haematol.2011.048926. Epub 2011 Aug 22.
16. Combinatorial use of bone morphogenetic protein 6, noggin and SOST significantly predicts cancer progression. Yuen HF, etal., Cancer Sci. 2012 Jun;103(6):1145-54. doi: 10.1111/j.1349-7006.2012.02252.x. Epub 2012 Apr 3.
17. Bone morphogenetic protein-6 is expressed early by activated astrocytes in lesions of rat traumatic brain injury. Zhang Z, etal., Neuroscience. 2006;138(1):47-53. Epub 2006 Jan 4.
Additional References at PubMed
PMID:1427904   PMID:1453478   PMID:2263636   PMID:7605353   PMID:7811286   PMID:8089189   PMID:9116752   PMID:9331107   PMID:9417921   PMID:9435314   PMID:9512655   PMID:10504300  
PMID:10582704   PMID:11401330   PMID:11865031   PMID:12140680   PMID:12477932   PMID:12897139   PMID:13130469   PMID:14558086   PMID:14574404   PMID:14623234   PMID:14660436   PMID:15186723  
PMID:15516325   PMID:15548695   PMID:15784727   PMID:15861517   PMID:15877825   PMID:16527843   PMID:16547600   PMID:16604289   PMID:16798745   PMID:16886151   PMID:17238135   PMID:17244894  
PMID:17262821   PMID:17574840   PMID:17575215   PMID:17577985   PMID:17879955   PMID:17899540   PMID:17924656   PMID:18070108   PMID:18187665   PMID:18308844   PMID:18326817   PMID:18349123  
PMID:18391951   PMID:18436533   PMID:18632632   PMID:18683889   PMID:18688853   PMID:18805502   PMID:18931653   PMID:18949431   PMID:19075223   PMID:19093115   PMID:19245827   PMID:19252488  
PMID:19266077   PMID:19308091   PMID:19366699   PMID:19539911   PMID:19543302   PMID:19694819   PMID:19718049   PMID:19765379   PMID:20048150   PMID:20379614   PMID:20401668   PMID:20460105  
PMID:20530805   PMID:20546612   PMID:20567515   PMID:20573596   PMID:20587610   PMID:20605837   PMID:20634891   PMID:20734064   PMID:20844121   PMID:20881960   PMID:21136273   PMID:21374653  
PMID:21622652   PMID:21873635   PMID:21898381   PMID:22086350   PMID:22305102   PMID:22419666   PMID:22641693   PMID:22792339   PMID:23049088   PMID:23563607   PMID:23674072   PMID:23799295  
PMID:23853066   PMID:24012720   PMID:24162774   PMID:24185914   PMID:24263212   PMID:24406789   PMID:24498236   PMID:24518599   PMID:24658703   PMID:24875397   PMID:24890613   PMID:24929828  
PMID:25011936   PMID:25121767   PMID:25227796   PMID:25401122   PMID:25429064   PMID:25753222   PMID:26410368   PMID:26475719   PMID:26582087   PMID:26598555   PMID:26751737   PMID:26779985  
PMID:26855134   PMID:27051019   PMID:27592865   PMID:27959431   PMID:28126904   PMID:28335084   PMID:28434979   PMID:28523310   PMID:28733457   PMID:29117863   PMID:29767257   PMID:30097509  
PMID:30171260   PMID:30230035   PMID:30510168   PMID:30542109   PMID:30633987   PMID:30878675   PMID:30982140   PMID:31276102   PMID:31434001   PMID:31495245   PMID:31800957   PMID:32059748  
PMID:32076051   PMID:32393512   PMID:32464486   PMID:32524577   PMID:32641001   PMID:32845956   PMID:32854680   PMID:33232799   PMID:33332786   PMID:33961781   PMID:34037557   PMID:34314740  
PMID:34611951   PMID:34740612   PMID:34933731   PMID:35033126   PMID:35694925   PMID:35696571   PMID:36153321   PMID:37795636   PMID:37930517   PMID:38323352  


Genomics

Comparative Map Data
BMP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3867,726,099 - 7,881,728 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl67,726,099 - 7,881,728 (+)EnsemblGRCh38hg38GRCh38
GRCh3767,726,332 - 7,881,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,672,010 - 7,826,960 (+)NCBINCBI36Build 36hg18NCBI36
Build 3467,672,008 - 7,826,726NCBI
Celera68,956,438 - 9,111,399 (+)NCBICelera
Cytogenetic Map6p24.3NCBI
HuRef67,604,128 - 7,759,039 (+)NCBIHuRef
CHM1_167,728,829 - 7,884,079 (+)NCBICHM1_1
T2T-CHM13v2.067,594,835 - 7,750,477 (+)NCBIT2T-CHM13v2.0
Bmp6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391338,529,098 - 38,684,283 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1338,529,083 - 38,684,278 (+)EnsemblGRCm39 Ensembl
GRCm381338,345,716 - 38,500,314 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1338,345,107 - 38,500,302 (+)EnsemblGRCm38mm10GRCm38
MGSCv371338,437,585 - 38,591,597 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361338,353,182 - 38,507,194 (+)NCBIMGSCv36mm8
Celera1339,464,167 - 39,615,905 (+)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1318.15NCBI
Bmp6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81726,523,704 - 26,785,558 (-)NCBIGRCr8
mRatBN7.21726,318,121 - 26,469,691 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1726,318,569 - 26,470,365 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1726,176,967 - 26,326,912 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01727,780,553 - 27,930,507 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01726,125,854 - 26,275,216 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01726,955,142 - 27,112,820 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1726,955,142 - 27,112,820 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01728,870,345 - 29,029,564 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41732,380,199 - 32,689,295 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11732,383,039 - 32,692,136 (-)NCBI
Celera1725,955,026 - 26,103,008 (-)NCBICelera
RH 3.4 Map17342.3RGD
Cytogenetic Map17p12NCBI
Bmp6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554656,054,931 - 6,200,377 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554656,053,600 - 6,201,254 (-)NCBIChiLan1.0ChiLan1.0
BMP6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2522,365,813 - 22,522,551 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1618,363,471 - 18,519,549 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v067,564,164 - 7,720,341 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.167,848,255 - 8,002,030 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl67,848,249 - 8,000,649 (+)Ensemblpanpan1.1panPan2
BMP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1357,780,763 - 7,833,095 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl357,804,231 - 7,831,845 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha357,690,267 - 7,840,113 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0357,770,103 - 7,915,608 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl357,770,103 - 7,915,377 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1357,622,630 - 7,772,359 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0357,648,291 - 7,798,326 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0358,982,152 - 9,131,717 (+)NCBIUU_Cfam_GSD_1.0
Bmp6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494616,438,976 - 16,602,907 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365344,709,064 - 4,871,023 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365344,707,658 - 4,871,865 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl75,058,817 - 5,210,270 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.175,058,817 - 5,208,868 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.275,163,209 - 5,313,233 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMP6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11764,279,243 - 64,436,356 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1764,280,609 - 64,435,382 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660447,712,261 - 7,873,910 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmp6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475617,743,834 - 17,894,753 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475617,742,822 - 17,894,931 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMP6
106 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 copy number loss See cases [RCV000052177] Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|See cases [RCV000052178] Chr6:5925989..8749319 [GRCh38]
Chr6:5926222..8749552 [GRCh37]
Chr6:5871221..8694551 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
NM_001718.4(BMP6):c.664+13001G>T single nucleotide variant Lung cancer [RCV000097175] Chr6:7740620 [GRCh38]
Chr6:7740853 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.4(BMP6):c.1205-286T>C single nucleotide variant Lung cancer [RCV000097185] Chr6:7878788 [GRCh38]
Chr6:7879021 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3 copy number gain See cases [RCV000511519] Chr6:7229084..7904034 [GRCh37]
Chr6:6p24.3		 likely benign
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 copy number loss not provided [RCV000682638] Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3		 likely pathogenic
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1 copy number loss not provided [RCV000682643] Chr6:6990611..11276452 [GRCh37]
Chr6:6p25.1-24.2		 pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p24.3(chr6:7781784-7782519)x0 copy number loss not provided [RCV000745455] Chr6:7781784..7782519 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.480C>T (p.Ser160=) single nucleotide variant BMP6-related disorder [RCV003928496]|not provided [RCV000970779] Chr6:7727435 [GRCh38]
Chr6:7727668 [GRCh37]
Chr6:6p24.3		 benign|likely benign
NM_001718.6(BMP6):c.605G>A (p.Ser202Asn) single nucleotide variant not specified [RCV004297972] Chr6:7727560 [GRCh38]
Chr6:7727793 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3 copy number gain not provided [RCV000849173] Chr6:6846861..7759131 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001718.6(BMP6):c.526C>G (p.Pro176Ala) single nucleotide variant not specified [RCV004320779] Chr6:7727481 [GRCh38]
Chr6:7727714 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.770G>A (p.Arg257His) single nucleotide variant Iron overload, susceptibility to [RCV002462816]|not provided [RCV004598212] Chr6:7845245 [GRCh38]
Chr6:7845478 [GRCh37]
Chr6:6p24.3		 risk factor|likely benign
GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1 copy number loss not provided [RCV001005768] Chr6:5997521..8570039 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3 copy number gain not provided [RCV001259377] Chr6:6495789..8070987 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
NM_001718.6(BMP6):c.409C>A (p.Leu137Met) single nucleotide variant Premature ovarian failure [RCV001270201] Chr6:7727364 [GRCh38]
Chr6:7727597 [GRCh37]
Chr6:6p24.3		 likely pathogenic
NC_000006.11:g.(?_7542149)_(7880576_?)dup duplication Arrhythmogenic cardiomyopathy with wooly hair and keratoderma [RCV003113472] Chr6:7542149..7880576 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.239A>C (p.Gln80Pro) single nucleotide variant not specified [RCV004329755] Chr6:7727194 [GRCh38]
Chr6:7727427 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.334G>C (p.Glu112Gln) single nucleotide variant Iron overload, susceptibility to [RCV002462814] Chr6:7727289 [GRCh38]
Chr6:7727522 [GRCh37]
Chr6:6p24.3		 risk factor
NM_001718.6(BMP6):c.472C>T (p.Gln158Ter) single nucleotide variant Iron overload, susceptibility to [RCV002462815] Chr6:7727427 [GRCh38]
Chr6:7727660 [GRCh37]
Chr6:6p24.3		 risk factor
NM_001718.6(BMP6):c.283C>T (p.Pro95Ser) single nucleotide variant Iron overload, susceptibility to [RCV002462811]|not provided [RCV003434493] Chr6:7727238 [GRCh38]
Chr6:7727471 [GRCh37]
Chr6:6p24.3		 risk factor|likely benign
NM_001718.6(BMP6):c.287T>C (p.Leu96Pro) single nucleotide variant BMP6-related disorder [RCV004758231]|Iron overload, susceptibility to [RCV002462812]|not provided [RCV003439020] Chr6:7727242 [GRCh38]
Chr6:7727475 [GRCh37]
Chr6:6p24.3		 risk factor|benign|likely benign
NM_001718.6(BMP6):c.337C>G (p.Gln113Glu) single nucleotide variant BMP6-related disorder [RCV003961052]|Iron overload, susceptibility to [RCV002462813]|not provided [RCV003439021] Chr6:7727292 [GRCh38]
Chr6:7727525 [GRCh37]
Chr6:6p24.3		 risk factor|benign|likely benign
NM_001718.6(BMP6):c.605G>C (p.Ser202Thr) single nucleotide variant not specified [RCV004147887] Chr6:7727560 [GRCh38]
Chr6:7727793 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1460C>T (p.Ser487Leu) single nucleotide variant not specified [RCV004098081] Chr6:7880261 [GRCh38]
Chr6:7880494 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1411G>A (p.Glu471Lys) single nucleotide variant not specified [RCV004078846] Chr6:7880212 [GRCh38]
Chr6:7880445 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.606C>A (p.Ser202Arg) single nucleotide variant not specified [RCV004096426] Chr6:7727561 [GRCh38]
Chr6:7727794 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.932C>T (p.Thr311Met) single nucleotide variant not specified [RCV004106202] Chr6:7861525 [GRCh38]
Chr6:7861758 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.698G>A (p.Arg233Gln) single nucleotide variant not specified [RCV004209651] Chr6:7845173 [GRCh38]
Chr6:7845406 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.623T>C (p.Phe208Ser) single nucleotide variant not specified [RCV004232184] Chr6:7727578 [GRCh38]
Chr6:7727811 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.439A>G (p.Asn147Asp) single nucleotide variant not specified [RCV004189398] Chr6:7727394 [GRCh38]
Chr6:7727627 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.67G>A (p.Gly23Arg) single nucleotide variant not specified [RCV004242248] Chr6:7727022 [GRCh38]
Chr6:7727255 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001718.6(BMP6):c.670T>G (p.Tyr224Asp) single nucleotide variant not specified [RCV004108976] Chr6:7845145 [GRCh38]
Chr6:7845378 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.169C>T (p.Pro57Ser) single nucleotide variant not specified [RCV004099735] Chr6:7727124 [GRCh38]
Chr6:7727357 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1214G>A (p.Ser405Asn) single nucleotide variant not specified [RCV004190295] Chr6:7879083 [GRCh38]
Chr6:7879316 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.280C>T (p.Arg94Trp) single nucleotide variant not specified [RCV004204875] Chr6:7727235 [GRCh38]
Chr6:7727468 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1051G>A (p.Gly351Ser) single nucleotide variant not specified [RCV004070894] Chr6:7862345 [GRCh38]
Chr6:7862578 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1098T>G (p.Ser366Arg) single nucleotide variant not specified [RCV004080005] Chr6:7862392 [GRCh38]
Chr6:7862625 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.904G>A (p.Glu302Lys) single nucleotide variant not specified [RCV004071300] Chr6:7861497 [GRCh38]
Chr6:7861730 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.370C>T (p.Pro124Ser) single nucleotide variant not specified [RCV004137628] Chr6:7727325 [GRCh38]
Chr6:7727558 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.440A>G (p.Asn147Ser) single nucleotide variant not specified [RCV004166975] Chr6:7727395 [GRCh38]
Chr6:7727628 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.289C>T (p.His97Tyr) single nucleotide variant not specified [RCV004143433] Chr6:7727244 [GRCh38]
Chr6:7727477 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1282G>A (p.Asp428Asn) single nucleotide variant not specified [RCV004322733] Chr6:7879991 [GRCh38]
Chr6:7880224 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.607G>T (p.Ala203Ser) single nucleotide variant not specified [RCV004329298] Chr6:7727562 [GRCh38]
Chr6:7727795 [GRCh37]
Chr6:6p24.3		 uncertain significance
NC_000006.12:g.7427051ACAA[1] microsatellite Neonatal hemochromatosis [RCV003326056] Chr6:7427050..7427053 [GRCh38]
Chr6:7427283..7427286 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.453G>T (p.Gly151=) single nucleotide variant not provided [RCV003327261] Chr6:7727408 [GRCh38]
Chr6:7727641 [GRCh37]
Chr6:6p24.3		 likely benign
NC_000006.12:g.7673126T>C single nucleotide variant Neonatal hemochromatosis [RCV003326058] Chr6:7673126 [GRCh38]
Chr6:7673359 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1013A>G (p.His338Arg) single nucleotide variant not specified [RCV004353245] Chr6:7862307 [GRCh38]
Chr6:7862540 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.624C>G (p.Phe208Leu) single nucleotide variant not specified [RCV004361598] Chr6:7727579 [GRCh38]
Chr6:7727812 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.887G>A (p.Arg296His) single nucleotide variant not specified [RCV004348904] Chr6:7861480 [GRCh38]
Chr6:7861713 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.284C>T (p.Pro95Leu) single nucleotide variant not specified [RCV004344041] Chr6:7727239 [GRCh38]
Chr6:7727472 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001718.6(BMP6):c.1485C>G (p.Ser495=) single nucleotide variant not provided [RCV003457136] Chr6:7880286 [GRCh38]
Chr6:7880519 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.665-3T>C single nucleotide variant BMP6-related disorder [RCV003977160] Chr6:7845137 [GRCh38]
Chr6:7845370 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.1188G>T (p.Arg396=) single nucleotide variant BMP6-related disorder [RCV003979140] Chr6:7862482 [GRCh38]
Chr6:7862715 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.1374C>T (p.His458=) single nucleotide variant BMP6-related disorder [RCV003962025] Chr6:7880083 [GRCh38]
Chr6:7880316 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.567C>T (p.Ala189=) single nucleotide variant BMP6-related disorder [RCV003962089] Chr6:7727522 [GRCh38]
Chr6:7727755 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.339G>A (p.Gln113=) single nucleotide variant BMP6-related disorder [RCV003976677] Chr6:7727294 [GRCh38]
Chr6:7727527 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.877T>C (p.Leu293=) single nucleotide variant BMP6-related disorder [RCV003963888] Chr6:7861470 [GRCh38]
Chr6:7861703 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.612G>A (p.Gln204=) single nucleotide variant BMP6-related disorder [RCV003961494] Chr6:7727567 [GRCh38]
Chr6:7727800 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.1392+7T>G single nucleotide variant BMP6-related disorder [RCV003977191] Chr6:7880108 [GRCh38]
Chr6:7880341 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.661C>T (p.Leu221=) single nucleotide variant BMP6-related disorder [RCV003941797] Chr6:7727616 [GRCh38]
Chr6:7727849 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.565G>A (p.Ala189Thr) single nucleotide variant BMP6-related disorder [RCV003922015] Chr6:7727520 [GRCh38]
Chr6:7727753 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.1107C>T (p.His369=) single nucleotide variant BMP6-related disorder [RCV003931758] Chr6:7862401 [GRCh38]
Chr6:7862634 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.1014C>T (p.His338=) single nucleotide variant BMP6-related disorder [RCV003961604] Chr6:7862308 [GRCh38]
Chr6:7862541 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.1104G>C (p.Val368=) single nucleotide variant BMP6-related disorder [RCV003979854] Chr6:7862398 [GRCh38]
Chr6:7862631 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.225G>A (p.Glu75=) single nucleotide variant BMP6-related disorder [RCV003964302] Chr6:7727180 [GRCh38]
Chr6:7727413 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.636G>A (p.Ala212=) single nucleotide variant BMP6-related disorder [RCV003929660] Chr6:7727591 [GRCh38]
Chr6:7727824 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.1029C>T (p.Ala343=) single nucleotide variant BMP6-related disorder [RCV003914186] Chr6:7862323 [GRCh38]
Chr6:7862556 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.1062C>T (p.Asp354=) single nucleotide variant BMP6-related disorder [RCV003973864] Chr6:7862356 [GRCh38]
Chr6:7862589 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.83G>A (p.Arg28Gln) single nucleotide variant BMP6-related disorder [RCV003967338] Chr6:7727038 [GRCh38]
Chr6:7727271 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.335AGC[8] (p.Gln118_Leu119insGln) microsatellite BMP6-related disorder [RCV003917028] Chr6:7727289..7727290 [GRCh38]
Chr6:7727522..7727523 [GRCh37]
Chr6:6p24.3		 benign
NM_001718.6(BMP6):c.1118C>G (p.Thr373Ser) single nucleotide variant not specified [RCV004431904] Chr6:7862412 [GRCh38]
Chr6:7862645 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1211A>G (p.Asn404Ser) single nucleotide variant not specified [RCV004431905] Chr6:7879080 [GRCh38]
Chr6:7879313 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.265C>T (p.Leu89Phe) single nucleotide variant not specified [RCV004431907] Chr6:7727220 [GRCh38]
Chr6:7727453 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.626T>C (p.Leu209Pro) single nucleotide variant not specified [RCV004433892] Chr6:7727581 [GRCh38]
Chr6:7727814 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.959C>T (p.Thr320Ile) single nucleotide variant not specified [RCV004433894] Chr6:7861552 [GRCh38]
Chr6:7861785 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.97G>A (p.Ala33Thr) single nucleotide variant not specified [RCV004433895] Chr6:7727052 [GRCh38]
Chr6:7727285 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.211C>G (p.Leu71Val) single nucleotide variant not specified [RCV004431906] Chr6:7727166 [GRCh38]
Chr6:7727399 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.427C>G (p.Leu143Val) single nucleotide variant not specified [RCV004431908] Chr6:7727382 [GRCh38]
Chr6:7727615 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.450C>G (p.Asp150Glu) single nucleotide variant not specified [RCV004433890] Chr6:7727405 [GRCh38]
Chr6:7727638 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.455C>A (p.Ala152Glu) single nucleotide variant not specified [RCV004433891] Chr6:7727410 [GRCh38]
Chr6:7727643 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.490G>A (p.Glu164Lys) single nucleotide variant not specified [RCV004600511] Chr6:7727445 [GRCh38]
Chr6:7727678 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.634_635delinsAT (p.Ala212Met) indel not provided [RCV004599201] Chr6:7727589..7727590 [GRCh38]
Chr6:7727822..7727823 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.230G>A (p.Arg77Gln) single nucleotide variant not specified [RCV004600512] Chr6:7727185 [GRCh38]
Chr6:7727418 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1180G>A (p.Val394Met) single nucleotide variant BMP6-related disorder [RCV004758417] Chr6:7862474 [GRCh38]
Chr6:7862707 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001718.6(BMP6):c.329A>G (p.Gln110Arg) single nucleotide variant not specified [RCV004887538] Chr6:7727284 [GRCh38]
Chr6:7727517 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.695A>G (p.Gln232Arg) single nucleotide variant not specified [RCV004887528] Chr6:7845170 [GRCh38]
Chr6:7845403 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.604A>G (p.Ser202Gly) single nucleotide variant not specified [RCV004887529] Chr6:7727559 [GRCh38]
Chr6:7727792 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.1351G>A (p.Ala451Thr) single nucleotide variant not specified [RCV004887530] Chr6:7880060 [GRCh38]
Chr6:7880293 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.523C>T (p.Pro175Ser) single nucleotide variant not specified [RCV004887532] Chr6:7727478 [GRCh38]
Chr6:7727711 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.71C>T (p.Pro24Leu) single nucleotide variant not specified [RCV004887533] Chr6:7727026 [GRCh38]
Chr6:7727259 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.559C>T (p.Leu187Phe) single nucleotide variant not specified [RCV004887535] Chr6:7727514 [GRCh38]
Chr6:7727747 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.29G>T (p.Trp10Leu) single nucleotide variant not specified [RCV004887537] Chr6:7726984 [GRCh38]
Chr6:7727217 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.760G>A (p.Ala254Thr) single nucleotide variant not specified [RCV004887531] Chr6:7845235 [GRCh38]
Chr6:7845468 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.249C>G (p.Ile83Met) single nucleotide variant not specified [RCV004887536] Chr6:7727204 [GRCh38]
Chr6:7727437 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001718.6(BMP6):c.67G>C (p.Gly23Arg) single nucleotide variant not specified [RCV004887539] Chr6:7727022 [GRCh38]
Chr6:7727255 [GRCh37]
Chr6:6p24.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:383
Count of miRNA genes:324
Interacting mature miRNAs:346
Transcripts:ENST00000283147
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
407113159GWAS762135_Hmean corpuscular hemoglobin QTL GWAS762135 (human)1e-08body heightmean corpuscular hemoglobin (CMO:0000290)677293817729382Human
597144479GWAS1240553_Hchronic obstructive pulmonary disease QTL GWAS1240553 (human)6e-10lung integrity trait (VT:0010906)677279297727930Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
597329941GWAS1426015_Hsexual dimorphism measurement QTL GWAS1426015 (human)5e-09sexual dimorphism measurement678009127800913Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
596966791GWAS1086310_Hbody height QTL GWAS1086310 (human)2e-29body height678071897807190Human
597136783GWAS1232857_Hneuroimaging measurement QTL GWAS1232857 (human)3e-12neuroimaging measurement677361847736185Human
597328006GWAS1424080_Hsexual dimorphism measurement QTL GWAS1424080 (human)1e-13sexual dimorphism measurement677338267733827Human
597616259GWAS1673119_HHallux rigidus QTL GWAS1673119 (human)7e-12Hallux rigidus677416997741700Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human
597188231GWAS1284305_Hresponse to TNF antagonist QTL GWAS1284305 (human)0.0000009response to TNF antagonist677864527786453Human
597223815GWAS1319889_HBMI-adjusted waist circumference QTL GWAS1319889 (human)4e-10body size trait (VT:0100005)678013787801379Human
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
406916583GWAS565559_Hpulse pressure measurement QTL GWAS565559 (human)4e-08pulse pressure measurementpulse pressure (CMO:0000292)677279297727930Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
407042158GWAS691134_Hpathological myopia QTL GWAS691134 (human)0.0000004pathological myopia677434307743431Human
597091641GWAS1187715_HBMI-adjusted hip circumference QTL GWAS1187715 (human)0.000004BMI-adjusted hip circumferencehip circumference (CMO:0000014)677897107789711Human
597313194GWAS1409268_Hcortical thickness QTL GWAS1409268 (human)9e-13cortical thickness677361847736185Human
597061926GWAS1158000_Hsmall cell lung carcinoma QTL GWAS1158000 (human)0.000001small cell lung carcinoma677702787770279Human
597096998GWAS1193072_Htestosterone measurement QTL GWAS1193072 (human)4e-08testosterone measurementserum testosterone level (CMO:0000568)678418887841889Human
597213865GWAS1309939_Hprotein measurement QTL GWAS1309939 (human)2e-09protein measurement678643567864357Human
407001585GWAS650561_Hpulse pressure measurement QTL GWAS650561 (human)2e-10pulse pressure measurementpulse pressure (CMO:0000292)677279797727980Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
406942202GWAS591178_Hforced expiratory volume QTL GWAS591178 (human)2e-24forced expiratory volumeforced expiratory volume (CMO:0000254)677976077797608Human
597347617GWAS1443691_Hurinary albumin to creatinine ratio QTL GWAS1443691 (human)4e-08urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)678201207820121Human
597264678GWAS1360752_HX-12063 measurement QTL GWAS1360752 (human)3e-08X-12063 measurement677806097780610Human
597325093GWAS1421167_Hvital capacity QTL GWAS1421167 (human)2e-40vital capacity677920877792088Human
596976477GWAS1095996_Hbody height QTL GWAS1095996 (human)2e-43body height678013787801379Human
597156957GWAS1253031_Htestosterone measurement QTL GWAS1253031 (human)6e-08testosterone measurementserum testosterone level (CMO:0000568)678418887841889Human
406942095GWAS591071_Hvital capacity QTL GWAS591071 (human)8e-31vital capacity677976077797608Human
597229014GWAS1325088_Happendicular lean mass QTL GWAS1325088 (human)3e-24appendicular lean mass678008797800880Human
597114695GWAS1210769_Hplatelet count QTL GWAS1210769 (human)5e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)677675087767509Human
597337545GWAS1433619_Hosteoarthritis QTL GWAS1433619 (human)5e-08osteoarthritis677976077797608Human
596979136GWAS1098655_Hbody height QTL GWAS1098655 (human)3e-13body height677268087726809Human
597342156GWAS1438230_Hcomplex trait QTL GWAS1438230 (human)1e-09complex trait677279797727980Human
597328449GWAS1424523_Hsexual dimorphism measurement QTL GWAS1424523 (human)3e-16sexual dimorphism measurement677281957728196Human
597098956GWAS1195030_Hspondylosis QTL GWAS1195030 (human)9e-09spondylosis678056837805684Human
596978377GWAS1097896_Hbody height QTL GWAS1097896 (human)6e-11body height678816987881699Human
597156169GWAS1252243_Htestosterone measurement QTL GWAS1252243 (human)2e-08testosterone measurementserum testosterone level (CMO:0000568)678418887841889Human
597296325GWAS1392399_HBMI-adjusted hip circumference QTL GWAS1392399 (human)7e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)677863787786379Human
406999843GWAS648819_HBMI-adjusted waist circumference QTL GWAS648819 (human)2e-14body size trait (VT:0100005)677897107789711Human
597329662GWAS1425736_Hsexual dimorphism measurement QTL GWAS1425736 (human)1e-08sexual dimorphism measurement677759037775904Human
406916772GWAS565748_Hobsolete Mendelian syndromes with cleft lip/palate QTL GWAS565748 (human)0.000005obsolete Mendelian syndromes with cleft lip/palate677365107736511Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
597224433GWAS1320507_HBMI-adjusted waist circumference QTL GWAS1320507 (human)6e-13body size trait (VT:0100005)677279797727980Human
597347828GWAS1443902_Hurinary albumin to creatinine ratio QTL GWAS1443902 (human)0.0000007urine albumin amount (VT:0002871)urine albumin level to urine creatinine level ratio (CMO:0000384)678201207820121Human
406948654GWAS597630_HBMI-adjusted hip circumference QTL GWAS597630 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)677897107789711Human
596967652GWAS1087171_Hbody height QTL GWAS1087171 (human)1e-129body height677270387727039Human
597060199GWAS1156273_Hvital capacity QTL GWAS1156273 (human)5e-39vital capacity677976077797608Human
597269611GWAS1365685_HBMI-adjusted hip circumference QTL GWAS1365685 (human)4e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)677293817729382Human
597340520GWAS1436594_Hsexual dimorphism measurement QTL GWAS1436594 (human)2e-09sexual dimorphism measurement677293817729382Human
597340265GWAS1436339_Hcartilage thickness measurement QTL GWAS1436339 (human)5e-09cartilage morphology trait (VT:0000163)677293817729382Human
597079397GWAS1175471_Hmean corpuscular hemoglobin QTL GWAS1175471 (human)1e-09mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)677469997747000Human
597269613GWAS1365687_HBMI-adjusted hip circumference QTL GWAS1365687 (human)4e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)678000737800074Human
597122659GWAS1218733_Hblood protein measurement QTL GWAS1218733 (human)1e-20blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)678087037808704Human
597128418GWAS1224492_Hcortical thickness QTL GWAS1224492 (human)3e-14cortical thickness677361847736185Human
597269612GWAS1365686_HBMI-adjusted hip circumference QTL GWAS1365686 (human)1e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)677717377771738Human
407038900GWAS687876_Hvital capacity QTL GWAS687876 (human)6e-13vital capacity678008797800880Human
597339874GWAS1435948_Hsexual dimorphism measurement QTL GWAS1435948 (human)3e-19sexual dimorphism measurement677293817729382Human
2292824PRSTS5_HProstate tumor susceptibility QTL 5 (human)Prostate tumor susceptibility6119232373Human
597339873GWAS1435947_Hsexual dimorphism measurement QTL GWAS1435947 (human)1e-08sexual dimorphism measurement677539757753976Human
596963561GWAS1083080_Horofacial cleft QTL GWAS1083080 (human)0.000005orofacial cleft677365107736511Human
597209317GWAS1305391_HFacial wrinkling QTL GWAS1305391 (human)0.000003Facial wrinkling678708047870805Human
1643495BW291_HBody Weight QTL 291 (human)2.13Body weightBMI6119321359Human

Markers in Region
A002L04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,881,912 - 7,882,028UniSTSGRCh37
Build 3667,826,911 - 7,827,027RGDNCBI36
Celera69,111,350 - 9,111,466RGD
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map6p24-p23UniSTS
Cytogenetic Map6pUniSTS
HuRef67,758,990 - 7,759,106UniSTS
GeneMap99-GB4 RH Map640.68UniSTS
GeneMap99-GB4 RH Map643.85UniSTS
Whitehead-RH Map665.7UniSTS
WI-13193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,881,799 - 7,881,902UniSTSGRCh37
Build 3667,826,798 - 7,826,901RGDNCBI36
Celera69,111,237 - 9,111,340RGD
Cytogenetic Map6pUniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map6p24-p23UniSTS
HuRef67,758,888 - 7,758,980UniSTS
GeneMap99-GB4 RH Map640.68UniSTS
Whitehead-RH Map665.8UniSTS
AL035176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,876,669 - 7,876,788UniSTSGRCh37
Build 3667,821,668 - 7,821,787RGDNCBI36
Celera69,106,109 - 9,106,228RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,753,760 - 7,753,879UniSTS
RH102060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,783,895 - 7,784,031UniSTSGRCh37
GRCh37269,685,301 - 69,685,437UniSTSGRCh37
Build 36269,538,805 - 69,538,941RGDNCBI36
Celera69,013,324 - 9,013,460UniSTS
Celera269,535,374 - 69,535,510RGD
Cytogenetic Map2p14UniSTS
Cytogenetic Map6p24-p23UniSTS
HuRef67,661,058 - 7,661,194UniSTS
HuRef269,421,527 - 69,421,663UniSTS
SHGC-79401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,786,246 - 7,786,576UniSTSGRCh37
Build 3667,731,245 - 7,731,575RGDNCBI36
Celera69,015,675 - 9,016,005RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,663,409 - 7,663,739UniSTS
TNG Radiation Hybrid Map64564.0UniSTS
RH120353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,736,686 - 7,736,956UniSTSGRCh37
Build 3667,681,685 - 7,681,955RGDNCBI36
Celera68,966,113 - 8,966,383RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,613,800 - 7,614,070UniSTS
TNG Radiation Hybrid Map64543.0UniSTS
RH120640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,736,525 - 7,736,858UniSTSGRCh37
Build 3667,681,524 - 7,681,857RGDNCBI36
Celera68,965,952 - 8,966,285RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,613,639 - 7,613,972UniSTS
TNG Radiation Hybrid Map64539.0UniSTS
SHGC-104947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,787,339 - 7,787,680UniSTSGRCh37
Build 3667,732,338 - 7,732,679RGDNCBI36
Celera69,016,768 - 9,017,109RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,664,499 - 7,664,840UniSTS
TNG Radiation Hybrid Map64581.0UniSTS
SHGC-145537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,864,267 - 7,864,541UniSTSGRCh37
Build 3667,809,266 - 7,809,540RGDNCBI36
Celera69,093,705 - 9,093,979RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,741,355 - 7,741,629UniSTS
TNG Radiation Hybrid Map64620.0UniSTS
NIB594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,881,839 - 7,882,061UniSTSGRCh37
Build 3667,826,838 - 7,827,060RGDNCBI36
Celera69,111,277 - 9,111,499RGD
Cytogenetic Map6p24-p23UniSTS
Cytogenetic Map6p24.3UniSTS
Stanford-G3 RH Map6247.0UniSTS
GeneMap99-G3 RH Map6247.0UniSTS
D6S1842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,880,690 - 7,880,895UniSTSGRCh37
Build 3667,825,689 - 7,825,894RGDNCBI36
Celera69,110,128 - 9,110,333RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,757,779 - 7,757,984UniSTS
Stanford-G3 RH Map6257.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6119.3UniSTS
GeneMap99-G3 RH Map6257.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2396 2788 2231 4923 1712 2321 2 615 1869 457 2260 7182 6386 51 3690 843 1725 1595 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA700487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF732376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC739550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000283147   ⟹   ENSP00000283147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,726,099 - 7,881,728 (+)Ensembl
RefSeq Acc Id: NM_001718   ⟹   NP_001709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,726,099 - 7,881,728 (+)NCBI
GRCh3767,727,011 - 7,881,972 (+)NCBI
Build 3667,672,010 - 7,826,960 (+)NCBI Archive
HuRef67,604,128 - 7,759,039 (+)ENTREZGENE
CHM1_167,728,829 - 7,884,079 (+)NCBI
T2T-CHM13v2.067,594,835 - 7,750,477 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001709   ⟸   NM_001718
- Peptide Label: preproprotein
- UniProtKB: Q5TCP3 (UniProtKB/Swiss-Prot),   P22004 (UniProtKB/Swiss-Prot),   B4DUF7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000283147   ⟸   ENST00000283147
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22004-F1-model_v2 AlphaFold P22004 1-513 view protein structure

Promoters
RGD ID:6803803
Promoter ID:HG_KWN:52256
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_001718
Position:
Human AssemblyChrPosition (strand)Source
Build 3667,671,371 - 7,672,702 (+)MPROMDB
RGD ID:6871990
Promoter ID:EPDNEW_H9158
Type:initiation region
Name:BMP6_1
Description:bone morphogenetic protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,726,860 - 7,726,920EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1073 AgrOrtholog
COSMIC BMP6 COSMIC
Ensembl Genes ENSG00000153162 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000283147 ENTREZGENE
  ENST00000283147.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
  2.60.120.970 UniProtKB/Swiss-Prot
GTEx ENSG00000153162 GTEx
HGNC ID HGNC:1073 ENTREZGENE
Human Proteome Map BMP6 Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot
  TGF-b_C UniProtKB/Swiss-Prot
  TGF-b_propeptide UniProtKB/Swiss-Prot
  TGF-beta-rel UniProtKB/Swiss-Prot
  TGFb_CS UniProtKB/Swiss-Prot
KEGG Report hsa:654 UniProtKB/Swiss-Prot
NCBI Gene 654 ENTREZGENE
OMIM 112266 OMIM
PANTHER BONE MORPHOGENETIC PROTEIN 6 UniProtKB/Swiss-Prot
  PTHR11848 UniProtKB/Swiss-Prot
Pfam TGF_beta UniProtKB/Swiss-Prot
  TGFb_propeptide UniProtKB/Swiss-Prot
PharmGKB PA25383 PharmGKB
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot
  TGF_BETA_2 UniProtKB/Swiss-Prot
SMART TGFB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot
UniProt A1L1B5_HUMAN UniProtKB/TrEMBL
  A4FU96_HUMAN UniProtKB/TrEMBL
  A4FU97_HUMAN UniProtKB/TrEMBL
  B4DUF7 ENTREZGENE, UniProtKB/TrEMBL
  BMP6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4JCQ2_HUMAN UniProtKB/TrEMBL
  Q4VBA3_HUMAN UniProtKB/TrEMBL
  Q5TCP3 ENTREZGENE
UniProt Secondary Q5TCP3 UniProtKB/Swiss-Prot