RHBG (Rh family B glycoprotein) - Rat Genome Database

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Gene: RHBG (Rh family B glycoprotein) Homo sapiens
Analyze
Symbol: RHBG
Name: Rh family B glycoprotein
RGD ID: 1351825
HGNC Page HGNC:14572
Description: Enables ammonium channel activity; ankyrin binding activity; and carbon dioxide transmembrane transporter activity. Involved in ammonium transmembrane transport and transepithelial ammonium transport. Located in basolateral plasma membrane and spectrin-associated cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ammonium transporter Rh type B; Rh family B glycoprotein (gene/pseudogene); rh family type B glycoprotein; Rh family, B glycoprotein; Rh type B glycoprotein; rhesus blood group family type B glycoprotein; Rhesus blood group, B glycoprotein; SLC42A2; solute carrier family 42 member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,369,211 - 156,385,219 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,369,211 - 156,385,219 (+)EnsemblGRCh38hg38GRCh38
GRCh371156,339,002 - 156,355,011 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,605,627 - 154,621,635 (+)NCBINCBI36Build 36hg18NCBI36
Build 341153,152,075 - 153,168,082NCBI
Celera1129,411,936 - 129,427,944 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,699,264 - 127,715,166 (+)NCBIHuRef
CHM1_11157,735,330 - 157,751,369 (+)NCBICHM1_1
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
basolateral plasma membrane  (IDA,IEA,ISO,ISS)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,IMP,TAS)
spectrin-associated cytoskeleton  (IMP)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10852913   PMID:11024028   PMID:11358367   PMID:12477932   PMID:12595489   PMID:14702039   PMID:15284342   PMID:15489334   PMID:15611082   PMID:15929723   PMID:16227429   PMID:16281947  
PMID:16344560   PMID:16584906   PMID:16710414   PMID:16764738   PMID:17106214   PMID:18032481   PMID:18635543   PMID:19357182   PMID:19429772   PMID:19913121   PMID:19953292   PMID:20539225  
PMID:20628086   PMID:21873635   PMID:21988832   PMID:22589738   PMID:23324176   PMID:24077989   PMID:24647713   PMID:25616663   PMID:26029888   PMID:32296183   PMID:39052834  


Genomics

Comparative Map Data
RHBG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,369,211 - 156,385,219 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,369,211 - 156,385,219 (+)EnsemblGRCh38hg38GRCh38
GRCh371156,339,002 - 156,355,011 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,605,627 - 154,621,635 (+)NCBINCBI36Build 36hg18NCBI36
Build 341153,152,075 - 153,168,082NCBI
Celera1129,411,936 - 129,427,944 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,699,264 - 127,715,166 (+)NCBIHuRef
CHM1_11157,735,330 - 157,751,369 (+)NCBICHM1_1
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBIT2T-CHM13v2.0
Rhbg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39388,150,181 - 88,162,046 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl388,150,181 - 88,162,016 (-)EnsemblGRCm39 Ensembl
GRCm38388,242,874 - 88,254,739 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl388,242,874 - 88,254,709 (-)EnsemblGRCm38mm10GRCm38
MGSCv37388,046,796 - 88,058,606 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36388,328,801 - 88,340,611 (-)NCBIMGSCv36mm8
Celera388,282,453 - 88,294,263 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map338.78NCBI
Rhbg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,002,886 - 176,015,201 (-)NCBIGRCr8
mRatBN7.22173,704,852 - 173,717,380 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2173,704,562 - 173,717,321 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2180,850,109 - 180,862,373 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02178,872,464 - 178,884,724 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02173,472,192 - 173,484,457 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02187,610,081 - 187,622,408 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2187,610,087 - 187,622,373 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02207,013,098 - 207,028,671 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,320,787 - 180,333,050 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12180,270,893 - 180,283,156 (-)NCBI
Celera2167,651,447 - 167,663,638 (-)NCBICelera
Cytogenetic Map2q34NCBI
Rhbg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555452,490,924 - 2,504,085 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555452,491,417 - 2,504,013 (+)NCBIChiLan1.0ChiLan1.0
RHBG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2193,459,426 - 93,482,772 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1193,191,342 - 93,214,685 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,710,282 - 131,728,487 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11135,538,513 - 135,555,805 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,538,519 - 135,555,803 (+)Ensemblpanpan1.1panPan2
RHBG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,532,266 - 41,548,523 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl741,538,214 - 41,566,057 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,026,369 - 41,036,656 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0741,403,099 - 41,413,431 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl741,403,100 - 41,430,761 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1741,184,533 - 41,194,823 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0741,237,755 - 41,248,030 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0741,521,618 - 41,531,920 (-)NCBIUU_Cfam_GSD_1.0
Rhbg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,545,465 - 26,559,681 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365805,575,866 - 5,590,062 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365805,575,867 - 5,590,061 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHBG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl493,694,266 - 93,707,865 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1493,694,259 - 93,708,055 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24102,509,894 - 102,511,016 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RHBG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,475,404 - 7,493,109 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl207,475,438 - 7,492,629 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660386,775,594 - 6,793,408 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rhbg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248851,616,060 - 1,628,933 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248851,616,331 - 1,628,349 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHBG
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020407.4(RHBG):c.590C>T (p.Ser197Leu) single nucleotide variant Malignant melanoma [RCV000064201] Chr1:156378316 [GRCh38]
Chr1:156348107 [GRCh37]
Chr1:154614731 [NCBI36]
Chr1:1q22
not provided
GRCh38/hg38 1q22(chr1:155834419-156434205)x3 copy number gain See cases [RCV000138885] Chr1:155834419..156434205 [GRCh38]
Chr1:155804210..156403997 [GRCh37]
Chr1:154070834..154670621 [NCBI36]
Chr1:1q22
uncertain significance
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1 copy number loss See cases [RCV000138561] Chr1:156256495..156681863 [GRCh38]
Chr1:156226286..156651655 [GRCh37]
Chr1:154492910..154918279 [NCBI36]
Chr1:1q22-23.1
likely pathogenic
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_020407.5(RHBG):c.1271C>A (p.Pro424Gln) single nucleotide variant not specified [RCV004289812] Chr1:156384563 [GRCh38]
Chr1:156354355 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.589T>C (p.Ser197Pro) single nucleotide variant not specified [RCV004299807] Chr1:156378315 [GRCh38]
Chr1:156348106 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1
pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 copy number gain not provided [RCV000684659] Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
LMNA-NTRK1 fusion fusion Congenital fibrosarcoma [RCV000754610] Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1
pathogenic
GRCh37/hg19 1q22(chr1:156037369-156463980)x3 copy number gain not provided [RCV000846254] Chr1:156037369..156463980 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV001983077] Chr1:155581953..156851434 [GRCh37]
Chr1:1q22-23.1
pathogenic
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1
uncertain significance
NM_020407.5(RHBG):c.860C>T (p.Ala287Val) single nucleotide variant not specified [RCV004078328] Chr1:156381825 [GRCh38]
Chr1:156351616 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.229T>G (p.Phe77Val) single nucleotide variant not specified [RCV004104271] Chr1:156377342 [GRCh38]
Chr1:156347133 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1232G>A (p.Gly411Glu) single nucleotide variant not specified [RCV004171550] Chr1:156382867 [GRCh38]
Chr1:156352658 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.977C>T (p.Thr326Met) single nucleotide variant not specified [RCV004086655] Chr1:156381942 [GRCh38]
Chr1:156351733 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.256G>A (p.Gly86Ser) single nucleotide variant not specified [RCV004599471] Chr1:156377369 [GRCh38]
Chr1:156347160 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1186G>A (p.Gly396Arg) single nucleotide variant not specified [RCV004149677] Chr1:156382821 [GRCh38]
Chr1:156352612 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.197A>G (p.Asp66Gly) single nucleotide variant not specified [RCV004227128] Chr1:156377310 [GRCh38]
Chr1:156347101 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1225G>A (p.Gly409Ser) single nucleotide variant not specified [RCV004205985] Chr1:156382860 [GRCh38]
Chr1:156352651 [GRCh37]
Chr1:1q22
likely benign
NM_020407.5(RHBG):c.103C>T (p.Arg35Cys) single nucleotide variant not specified [RCV004102334] Chr1:156369352 [GRCh38]
Chr1:156339143 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1141G>C (p.Glu381Gln) single nucleotide variant not specified [RCV004234688] Chr1:156382776 [GRCh38]
Chr1:156352567 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.748A>T (p.Thr250Ser) single nucleotide variant not specified [RCV004236581] Chr1:156381421 [GRCh38]
Chr1:156351212 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.752C>T (p.Ala251Val) single nucleotide variant not specified [RCV004245176] Chr1:156381425 [GRCh38]
Chr1:156351216 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.130C>G (p.Leu44Val) single nucleotide variant not specified [RCV004185090] Chr1:156369379 [GRCh38]
Chr1:156339170 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.58C>T (p.Leu20Phe) single nucleotide variant not specified [RCV004238534] Chr1:156369307 [GRCh38]
Chr1:156339098 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1222G>C (p.Gly408Arg) single nucleotide variant not specified [RCV004210232] Chr1:156382857 [GRCh38]
Chr1:156352648 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.563T>G (p.Phe188Cys) single nucleotide variant not specified [RCV004100057] Chr1:156378289 [GRCh38]
Chr1:156348080 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.472C>A (p.Leu158Met) single nucleotide variant not specified [RCV004095931] Chr1:156378087 [GRCh38]
Chr1:156347878 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.403G>A (p.Ala135Thr) single nucleotide variant not specified [RCV004279333] Chr1:156378018 [GRCh38]
Chr1:156347809 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1073T>C (p.Leu358Pro) single nucleotide variant not specified [RCV004248292] Chr1:156382162 [GRCh38]
Chr1:156351953 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.7G>C (p.Gly3Arg) single nucleotide variant not specified [RCV004260101] Chr1:156369256 [GRCh38]
Chr1:156339047 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1108G>A (p.Asp370Asn) single nucleotide variant not specified [RCV004253957] Chr1:156382197 [GRCh38]
Chr1:156351988 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.934T>A (p.Phe312Ile) single nucleotide variant not specified [RCV004325714] Chr1:156381899 [GRCh38]
Chr1:156351690 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_020407.5(RHBG):c.1271C>G (p.Pro424Arg) single nucleotide variant not specified [RCV004337243] Chr1:156384563 [GRCh38]
Chr1:156354355 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1054G>A (p.Gly352Arg) single nucleotide variant not specified [RCV004348312] Chr1:156382143 [GRCh38]
Chr1:156351934 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1
pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_020407.5(RHBG):c.1148A>G (p.Gln383Arg) single nucleotide variant not specified [RCV004449313] Chr1:156382783 [GRCh38]
Chr1:156352574 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.409C>G (p.Leu137Val) single nucleotide variant not specified [RCV004449315] Chr1:156378024 [GRCh38]
Chr1:156347815 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.550A>T (p.Thr184Ser) single nucleotide variant not specified [RCV004449316] Chr1:156378276 [GRCh38]
Chr1:156348067 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.903G>A (p.Met301Ile) single nucleotide variant not specified [RCV004449317] Chr1:156381868 [GRCh38]
Chr1:156351659 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1246A>G (p.Lys416Glu) single nucleotide variant not specified [RCV004449314] Chr1:156384538 [GRCh38]
Chr1:156354329 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1136T>C (p.Ile379Thr) single nucleotide variant not specified [RCV004449312] Chr1:156382771 [GRCh38]
Chr1:156352562 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 copy number gain not provided [RCV004577444] Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2
likely pathogenic
NM_020407.5(RHBG):c.610C>G (p.Gln204Glu) single nucleotide variant not specified [RCV004663031] Chr1:156378336 [GRCh38]
Chr1:156348127 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1111G>A (p.Gly371Ser) single nucleotide variant not specified [RCV004663035] Chr1:156382200 [GRCh38]
Chr1:156351991 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.1270C>G (p.Pro424Ala) single nucleotide variant not specified [RCV004663033] Chr1:156384562 [GRCh38]
Chr1:156354354 [GRCh37]
Chr1:1q22
uncertain significance
NM_020407.5(RHBG):c.235A>G (p.Met79Val) single nucleotide variant not specified [RCV004663034] Chr1:156377348 [GRCh38]
Chr1:156347139 [GRCh37]
Chr1:1q22
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6278
Count of miRNA genes:1041
Interacting mature miRNAs:1273
Transcripts:ENST00000255013, ENST00000368245, ENST00000368246, ENST00000368247, ENST00000368249, ENST00000400992, ENST00000446171, ENST00000451864, ENST00000466013, ENST00000467375, ENST00000477000, ENST00000494874, ENST00000537040, ENST00000544720
Prediction methods:Microtar, 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
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
RH70095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,354,767 - 156,355,000UniSTSGRCh37
Build 361154,621,391 - 154,621,624RGDNCBI36
Celera1129,427,700 - 129,427,933RGD
Cytogenetic Map1q21.3UniSTS
HuRef1127,714,920 - 127,715,153UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


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
538 1471 1538 1170 4453 1566 1970 3 608 1077 457 1883 4345 3575 50 2886 762 1567 1271 165

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF193807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI310325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY139092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY139093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA636784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC393205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF798192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000451864   ⟹   ENSP00000389836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,369,212 - 156,385,148 (+)Ensembl
Ensembl Acc Id: ENST00000467375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,369,212 - 156,371,879 (+)Ensembl
Ensembl Acc Id: ENST00000494874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,382,143 - 156,384,884 (+)Ensembl
Ensembl Acc Id: ENST00000537040   ⟹   ENSP00000441197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,369,211 - 156,385,219 (+)Ensembl
Ensembl Acc Id: ENST00000612897   ⟹   ENSP00000477836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,369,212 - 156,385,219 (+)Ensembl
Ensembl Acc Id: ENST00000613460   ⟹   ENSP00000483178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,369,212 - 156,385,219 (+)Ensembl
Ensembl Acc Id: ENST00000618120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,369,240 - 156,385,213 (+)Ensembl
Ensembl Acc Id: ENST00000620376   ⟹   ENSP00000478851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,369,251 - 156,385,219 (+)Ensembl
Ensembl Acc Id: ENST00000622297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,382,313 - 156,384,603 (+)Ensembl
RefSeq Acc Id: NM_001256395   ⟹   NP_001243324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,211 - 156,385,219 (+)NCBI
GRCh371156,338,980 - 156,355,013 (+)NCBI
HuRef1127,699,264 - 127,715,166 (+)NCBI
CHM1_11157,735,330 - 157,751,369 (+)NCBI
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256396   ⟹   NP_001243325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,211 - 156,385,219 (+)NCBI
GRCh371156,338,980 - 156,355,013 (+)NCBI
HuRef1127,699,264 - 127,715,166 (+)NCBI
CHM1_11157,735,330 - 157,751,369 (+)NCBI
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001412175   ⟹   NP_001399104
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
RefSeq Acc Id: NM_001412176   ⟹   NP_001399105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
RefSeq Acc Id: NM_001412177   ⟹   NP_001399106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
RefSeq Acc Id: NM_020407   ⟹   NP_065140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,211 - 156,385,219 (+)NCBI
GRCh371156,338,980 - 156,355,013 (+)NCBI
Build 361154,605,627 - 154,621,635 (+)NCBI Archive
HuRef1127,699,264 - 127,715,166 (+)NCBI
CHM1_11157,735,330 - 157,751,369 (+)NCBI
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046115
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,211 - 156,385,219 (+)NCBI
GRCh371156,338,980 - 156,355,013 (+)NCBI
HuRef1127,699,264 - 127,715,166 (+)NCBI
CHM1_11157,735,330 - 157,751,369 (+)NCBI
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146763
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,211 - 156,385,219 (+)NCBI
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146764
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,211 - 156,385,219 (+)NCBI
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146765
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,211 - 156,385,219 (+)NCBI
T2T-CHM13v2.01155,507,822 - 155,523,825 (+)NCBI
Sequence:
RefSeq Acc Id: NP_065140   ⟸   NM_020407
- Peptide Label: isoform a
- UniProtKB: Q6YJI2 (UniProtKB/Swiss-Prot),   Q6P193 (UniProtKB/Swiss-Prot),   Q5SZW7 (UniProtKB/Swiss-Prot),   Q5SZW6 (UniProtKB/Swiss-Prot),   Q5SZW4 (UniProtKB/Swiss-Prot),   A8K475 (UniProtKB/Swiss-Prot),   Q6YJI3 (UniProtKB/Swiss-Prot),   Q9H310 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243325   ⟸   NM_001256396
- Peptide Label: isoform c
- UniProtKB: Q9H310 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243324   ⟸   NM_001256395
- Peptide Label: isoform b
- UniProtKB: Q9H310 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000478851   ⟸   ENST00000620376
Ensembl Acc Id: ENSP00000389836   ⟸   ENST00000451864
Ensembl Acc Id: ENSP00000477836   ⟸   ENST00000612897
Ensembl Acc Id: ENSP00000483178   ⟸   ENST00000613460
Ensembl Acc Id: ENSP00000441197   ⟸   ENST00000537040
RefSeq Acc Id: NP_001399106   ⟸   NM_001412177
- Peptide Label: isoform f
RefSeq Acc Id: NP_001399105   ⟸   NM_001412176
- Peptide Label: isoform e
- UniProtKB: B7Z8R8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399104   ⟸   NM_001412175
- Peptide Label: isoform d
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H310-F1-model_v2 AlphaFold Q9H310 1-458 view protein structure

Promoters
RGD ID:6857582
Promoter ID:EPDNEW_H1956
Type:initiation region
Name:RHBG_1
Description:Rh family B glycoprotein (gene/pseudogene)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,369,212 - 156,369,272EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14572 AgrOrtholog
COSMIC RHBG COSMIC
Ensembl Genes ENSG00000132677 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000451864 ENTREZGENE
  ENST00000451864.6 UniProtKB/TrEMBL
  ENST00000537040 ENTREZGENE
  ENST00000537040.6 UniProtKB/Swiss-Prot
  ENST00000612897.4 UniProtKB/TrEMBL
  ENST00000613460 ENTREZGENE
  ENST00000613460.4 UniProtKB/TrEMBL
  ENST00000620376.4 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3430.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132677 GTEx
HGNC ID HGNC:14572 ENTREZGENE
Human Proteome Map RHBG Human Proteome Map
InterPro Ammonium/urea_transptr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NH4_transpt_AmtB-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhesusRHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57127 UniProtKB/Swiss-Prot
NCBI Gene 57127 ENTREZGENE
OMIM 607079 OMIM
PANTHER AMMONIUM TRANSPORTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMMONIUM TRANSPORTER RH TYPE B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ammonium_transp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34385 PharmGKB
PRINTS RHESUSRHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Ammonium transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTF7_HUMAN UniProtKB/TrEMBL
  A0A087WUR4_HUMAN UniProtKB/TrEMBL
  A8K475 ENTREZGENE
  B7Z8R8 ENTREZGENE, UniProtKB/TrEMBL
  F6Q468_HUMAN UniProtKB/TrEMBL
  Q5SZW4 ENTREZGENE
  Q5SZW6 ENTREZGENE
  Q5SZW7 ENTREZGENE
  Q6P193 ENTREZGENE
  Q6YJI2 ENTREZGENE
  Q6YJI3 ENTREZGENE
  Q9H310 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K475 UniProtKB/Swiss-Prot
  Q5SZW4 UniProtKB/Swiss-Prot
  Q5SZW6 UniProtKB/Swiss-Prot
  Q5SZW7 UniProtKB/Swiss-Prot
  Q6P193 UniProtKB/Swiss-Prot
  Q6YJI2 UniProtKB/Swiss-Prot
  Q6YJI3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 RHBG  Rh family B glycoprotein  RHBG  Rh family B glycoprotein (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2016-01-19 RHBG  Rh family B glycoprotein (gene/pseudogene)    Rh family, B glycoprotein (gene/pseudogene)  Symbol and/or name change 5135510 APPROVED