AKAP12 (A-kinase anchoring protein 12) - Rat Genome Database

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Gene: AKAP12 (A-kinase anchoring protein 12) Homo sapiens
Analyze
Symbol: AKAP12
Name: A-kinase anchoring protein 12
RGD ID: 737243
HGNC Page HGNC:370
Description: Enables adenylate cyclase binding activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway and regulation of protein kinase A signaling. Located in cytosol and plasma membrane. Implicated in chronic kidney disease; colorectal carcinoma; and juvenile myelomonocytic leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A kinase (PRKA) anchor protein 12; A-kinase anchor protein 12; A-kinase anchor protein 250 kDa; A-kinase anchor protein, 250kDa; AKAP 250; AKAP-12; AKAP250; DKFZp686M0430; DKFZp686O0331; FLJ20945; FLJ97621; kinase scaffold protein gravin; myasthenia gravis autoantigen gravin; Src-Suppressed C Kinase Substrate; SSeCKS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386151,239,967 - 151,358,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6151,239,967 - 151,358,559 (+)EnsemblGRCh38hg38GRCh38
GRCh376151,561,102 - 151,679,694 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366151,603,202 - 151,719,602 (+)NCBINCBI36Build 36hg18NCBI36
Build 346151,738,936 - 151,770,022NCBI
Celera6152,295,018 - 152,413,580 (+)NCBICelera
Cytogenetic Map6q25.1NCBI
HuRef6149,123,664 - 149,241,939 (+)NCBIHuRef
CHM1_16151,825,190 - 151,943,865 (+)NCBICHM1_1
T2T-CHM13v2.06152,440,587 - 152,559,135 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acids  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butan-1-ol  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chrysene  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cumene  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (EXP)
folic acid  (EXP,ISO)
fulvestrant  (EXP)
genistein  (EXP,ISO)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (EXP)
isobutanol  (EXP)
ivermectin  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
menadione  (EXP)
mercaptopurine  (ISO)
metacetamol  (ISO)
methylmercury chloride  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
mitomycin C  (EXP)
N-nitrosodimethylamine  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (EXP)
PD 0325901  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
PhIP  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium cyanide  (ISO)
progesterone  (EXP)
purine-6-thiol  (ISO)
quercetin  (EXP)
resorcinol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. A-kinase anchoring proteins: from protein complexes to physiology and disease. Carnegie GK, etal., IUBMB Life. 2009 Apr;61(4):394-406.
2. Vagal efferent fiber stimulation ameliorates pulmonary microvascular endothelial cell injury by downregulating inflammatory responses. Chen C, etal., Inflammation. 2013 Dec;36(6):1567-75. doi: 10.1007/s10753-013-9701-4.
3. Silencing of Cited2 and Akap12 genes in radiation-induced rat osteosarcomas. Daino K, etal., Biochem Biophys Res Commun. 2009 Dec 18;390(3):654-8. Epub 2009 Oct 13.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The scaffold protein muscle A-kinase anchoring protein beta orchestrates cardiac myocyte hypertrophic signaling required for the development of heart failure. Kritzer MD, etal., Circ Heart Fail. 2014 Jul;7(4):663-72. doi: 10.1161/CIRCHEARTFAILURE.114.001266. Epub 2014 May 8.
6. Involvement of Src-suppressed C kinase substrate in experimental autoimmune encephalomyelitis: a link between release of astrocyte proinflammatory factor and oligodendrocyte apoptosis. Li X, etal., J Neurosci Res. 2010 Jul;88(9):1858-71. doi: 10.1002/jnr.22355.
7. Re-expression of AKAP12 inhibits progression and metastasis potential of colorectal carcinoma in vivo and in vitro. Liu W, etal., PLoS One. 2011;6(8):e24015. doi: 10.1371/journal.pone.0024015. Epub 2011 Aug 30.
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Localized effects of cAMP mediated by distinct routes of protein kinase A. Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67.
10. Epigenetic silencing of AKAP12 in juvenile myelomonocytic leukemia. Wilhelm T, etal., Epigenetics. 2016;11(2):110-9. doi: 10.1080/15592294.2016.1145327. Epub 2016 Feb 18.
11. A critical role of SRC-suppressed C kinase substrate in rat astrocytes after chronic constriction injury. Xia Y, etal., Neuromolecular Med. 2010 Sep;12(3):205-16. doi: 10.1007/s12017-009-8093-y. Epub 2009 Nov 25.
12. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
13. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. Yoshida T, etal., Int J Mol Med. 2009 Oct;24(4):539-47.
14. Increased SSeCKS expression in rat hepatic stellate cells upon activation in vitro and in vivo. You T, etal., Inflammation. 2013 Dec;36(6):1415-23. doi: 10.1007/s10753-013-9681-4.
15. Temporal profile of Src, SSeCKS, and angiogenic factors after focal cerebral ischemia: correlations with angiogenesis and cerebral edema. Zan L, etal., Neurochem Int. 2011 Jul;58(8):872-9. doi: 10.1016/j.neuint.2011.02.014. Epub 2011 Feb 18.
Additional References at PubMed
PMID:1522245   PMID:9000000   PMID:9238861   PMID:9604001   PMID:9880537   PMID:10858453   PMID:11309381   PMID:11316952   PMID:11766078   PMID:11807172   PMID:12477932   PMID:12857743  
PMID:14657015   PMID:14702039   PMID:15258566   PMID:15345747   PMID:15590635   PMID:15923193   PMID:16344560   PMID:16642035   PMID:16751776   PMID:16762919   PMID:17081159   PMID:17081983  
PMID:17200117   PMID:17442483   PMID:17442832   PMID:17577780   PMID:18029348   PMID:18199717   PMID:18397319   PMID:18554502   PMID:18579430   PMID:18950703   PMID:19210988   PMID:19851296  
PMID:20018890   PMID:20029029   PMID:20198315   PMID:20360068   PMID:20364105   PMID:20939879   PMID:20979053   PMID:21115911   PMID:21310466   PMID:21423176   PMID:21461577   PMID:21540461  
PMID:21873635   PMID:21900206   PMID:21903576   PMID:22584896   PMID:22710722   PMID:22863883   PMID:23063527   PMID:23254330   PMID:23414517   PMID:23443559   PMID:23543478   PMID:23838009  
PMID:24042196   PMID:24065476   PMID:24870731   PMID:24986638   PMID:25188285   PMID:25229625   PMID:25356636   PMID:25544563   PMID:25637608   PMID:25748058   PMID:25792458   PMID:26186194  
PMID:26406118   PMID:26428665   PMID:26496610   PMID:26561776   PMID:26618866   PMID:26638075   PMID:26645718   PMID:26646106   PMID:26831064   PMID:26972000   PMID:27173435   PMID:28685749  
PMID:28698137   PMID:29053956   PMID:29282278   PMID:29391485   PMID:29484387   PMID:29507755   PMID:29568061   PMID:29700280   PMID:29717226   PMID:30194290   PMID:30385176   PMID:31091453  
PMID:31177093   PMID:31240132   PMID:31363079   PMID:31732153   PMID:31809872   PMID:31871319   PMID:31894433   PMID:31918285   PMID:31980649   PMID:32687490   PMID:32732289   PMID:33462405  
PMID:33545068   PMID:33766124   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34023860   PMID:34079125   PMID:34327631   PMID:34432599   PMID:34483150   PMID:34709727   PMID:35022314  
PMID:35271311   PMID:35337019   PMID:35446349   PMID:35775596   PMID:35831314   PMID:35844135   PMID:36122629   PMID:36148016   PMID:36215168   PMID:36217030   PMID:36232890   PMID:36237976  
PMID:36513585  


Genomics

Comparative Map Data
AKAP12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386151,239,967 - 151,358,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6151,239,967 - 151,358,559 (+)EnsemblGRCh38hg38GRCh38
GRCh376151,561,102 - 151,679,694 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366151,603,202 - 151,719,602 (+)NCBINCBI36Build 36hg18NCBI36
Build 346151,738,936 - 151,770,022NCBI
Celera6152,295,018 - 152,413,580 (+)NCBICelera
Cytogenetic Map6q25.1NCBI
HuRef6149,123,664 - 149,241,939 (+)NCBIHuRef
CHM1_16151,825,190 - 151,943,865 (+)NCBICHM1_1
T2T-CHM13v2.06152,440,587 - 152,559,135 (+)NCBIT2T-CHM13v2.0
Akap12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39104,216,329 - 4,309,471 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl104,216,380 - 4,309,470 (+)EnsemblGRCm39 Ensembl
GRCm38104,266,329 - 4,359,471 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl104,266,380 - 4,359,470 (+)EnsemblGRCm38mm10GRCm38
MGSCv37105,987,070 - 6,080,212 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36105,987,070 - 6,080,163 (-)NCBIMGSCv36mm8
Celera104,190,840 - 4,288,877 (+)NCBICelera
Cytogenetic Map10A1NCBI
Akap12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2140,730,123 - 40,819,863 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl140,730,123 - 40,819,886 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx141,257,330 - 41,347,044 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0147,244,521 - 47,334,234 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0141,332,883 - 41,422,632 (+)NCBIRnor_WKY
Rnor_6.0140,816,130 - 40,906,582 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl140,816,107 - 40,906,581 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0142,162,163 - 42,252,615 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4134,979,039 - 35,068,763 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1134,982,110 - 35,070,840 (+)NCBI
Celera136,421,269 - 36,510,639 (+)NCBICelera
Cytogenetic Map1q11NCBI
Akap12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543910,238,664 - 10,263,081 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543910,241,298 - 10,262,416 (-)NCBIChiLan1.0ChiLan1.0
AKAP12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan16169,155,859 - 169,273,390 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06149,058,350 - 149,176,710 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16153,839,496 - 153,873,925 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6153,757,081 - 153,873,925 (+)Ensemblpanpan1.1panPan2
AKAP12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1141,614,893 - 41,712,350 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl141,614,714 - 41,709,798 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha142,456,089 - 42,553,626 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0141,799,868 - 41,897,347 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl141,799,970 - 41,895,674 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1141,673,111 - 41,770,835 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0141,517,208 - 41,614,636 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0142,023,588 - 42,121,300 (+)NCBIUU_Cfam_GSD_1.0
Akap12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946136,985,500 - 137,006,417 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364894,237,439 - 4,261,141 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364894,237,466 - 4,258,408 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKAP12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl114,908,115 - 15,016,997 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1114,904,109 - 15,017,016 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2117,314,971 - 17,428,055 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AKAP12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11378,691,588 - 78,812,333 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1378,691,816 - 78,812,834 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604051,020,791 - 51,143,055 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Akap12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247856,897,561 - 6,988,287 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247856,900,252 - 6,987,712 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AKAP12
73 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1 copy number loss See cases [RCV000051005] Chr6:146481119..151427629 [GRCh38]
Chr6:146802255..151748764 [GRCh37]
Chr6:146843948..151790457 [NCBI36]
Chr6:6q24.3-25.1		 pathogenic
GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 copy number loss See cases [RCV000052206] Chr6:144932561..152985364 [GRCh38]
Chr6:145253697..153306499 [GRCh37]
Chr6:145295390..153348192 [NCBI36]
Chr6:6q24.2-25.2		 pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 copy number loss See cases [RCV000139578] Chr6:150381239..159553952 [GRCh38]
Chr6:150702375..159974984 [GRCh37]
Chr6:150744068..159894974 [NCBI36]
Chr6:6q25.1-25.3		 pathogenic
GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1 copy number loss See cases [RCV000448815] Chr6:144075695..152337005 [GRCh37]
Chr6:6q24.2-25.1		 pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
NM_005100.4(AKAP12):c.163-8647_163-5271del deletion Preeclampsia [RCV000161457] Chr6:151297100..151300476 [GRCh38]
Chr6:151618235..151621611 [GRCh37]
Chr6:6q25.1		 not provided
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27		 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
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 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 6q25.1(chr6:151629865-151660477)x1 copy number loss not provided [RCV000746108] Chr6:151629865..151660477 [GRCh37]
Chr6:6q25.1		 benign
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 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.1(chr6:151572302-151599737)x1 copy number loss not provided [RCV000746107] Chr6:151572302..151599737 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.1127A>C (p.Lys376Thr) single nucleotide variant not provided [RCV000950720] Chr6:151349518 [GRCh38]
Chr6:151670653 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.3653A>T (p.Lys1218Ile) single nucleotide variant not provided [RCV000894170] Chr6:151352044 [GRCh38]
Chr6:151673179 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.4670C>G (p.Ala1557Gly) single nucleotide variant not provided [RCV000880407] Chr6:151353061 [GRCh38]
Chr6:151674196 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.761C>T (p.Pro254Leu) single nucleotide variant not provided [RCV000946975] Chr6:151349152 [GRCh38]
Chr6:151670287 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.3047C>T (p.Thr1016Ile) single nucleotide variant not provided [RCV000954927] Chr6:151351438 [GRCh38]
Chr6:151672573 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.3246A>G (p.Glu1082=) single nucleotide variant not provided [RCV000958888] Chr6:151351637 [GRCh38]
Chr6:151672772 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.1130T>C (p.Val377Ala) single nucleotide variant not provided [RCV000892438] Chr6:151349521 [GRCh38]
Chr6:151670656 [GRCh37]
Chr6:6q25.1		 benign
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1 copy number loss not provided [RCV001005856] Chr6:149431322..154120064 [GRCh37]
Chr6:6q25.1-25.2		 pathogenic
NM_005100.4(AKAP12):c.812A>G (p.Glu271Gly) single nucleotide variant not provided [RCV000894603] Chr6:151349203 [GRCh38]
Chr6:151670338 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.4767C>T (p.Asp1589=) single nucleotide variant not provided [RCV000898004] Chr6:151353158 [GRCh38]
Chr6:151674293 [GRCh37]
Chr6:6q25.1		 benign
GRCh37/hg19 6q25.1(chr6:151125814-151676908)x3 copy number gain not provided [RCV000848574] Chr6:151125814..151676908 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4155G>A (p.Gly1385=) single nucleotide variant not provided [RCV000891876] Chr6:151352546 [GRCh38]
Chr6:151673681 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.1839C>A (p.Phe613Leu) single nucleotide variant not provided [RCV000958887] Chr6:151350230 [GRCh38]
Chr6:151671365 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.591G>A (p.Gln197=) single nucleotide variant not provided [RCV000958886] Chr6:151348982 [GRCh38]
Chr6:151670117 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.4787AAG[1] (p.Glu1597del) microsatellite not provided [RCV000908173] Chr6:151353178..151353180 [GRCh38]
Chr6:151674313..151674315 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.509T>C (p.Ile170Thr) single nucleotide variant not provided [RCV000956431] Chr6:151348900 [GRCh38]
Chr6:151670035 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.4345G>A (p.Ala1449Thr) single nucleotide variant not provided [RCV000956432] Chr6:151352736 [GRCh38]
Chr6:151673871 [GRCh37]
Chr6:6q25.1		 benign
GRCh37/hg19 6q25.1(chr6:151121109-151664579)x3 copy number gain not provided [RCV001259973] Chr6:151121109..151664579 [GRCh37]
Chr6:6q25.1		 uncertain significance
GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3 copy number gain not provided [RCV001258753] Chr6:151472860..154839846 [GRCh37]
Chr6:6q25.1-25.2		 likely pathogenic
NM_005100.4(AKAP12):c.3242C>A (p.Ala1081Asp) single nucleotide variant Inborn genetic diseases [RCV002859291] Chr6:151351633 [GRCh38]
Chr6:151672768 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.1498G>T (p.Val500Leu) single nucleotide variant Inborn genetic diseases [RCV002840313] Chr6:151349889 [GRCh38]
Chr6:151671024 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4160A>T (p.Lys1387Met) single nucleotide variant Inborn genetic diseases [RCV002688877] Chr6:151352551 [GRCh38]
Chr6:151673686 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2108G>T (p.Gly703Val) single nucleotide variant Inborn genetic diseases [RCV002818475] Chr6:151350499 [GRCh38]
Chr6:151671634 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.1723G>A (p.Glu575Lys) single nucleotide variant Inborn genetic diseases [RCV002844632] Chr6:151350114 [GRCh38]
Chr6:151671249 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.1228G>C (p.Val410Leu) single nucleotide variant Inborn genetic diseases [RCV002822505] Chr6:151349619 [GRCh38]
Chr6:151670754 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.5105A>G (p.Asp1702Gly) single nucleotide variant Inborn genetic diseases [RCV002783622] Chr6:151353496 [GRCh38]
Chr6:151674631 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4637G>C (p.Ser1546Thr) single nucleotide variant Inborn genetic diseases [RCV003000498] Chr6:151353028 [GRCh38]
Chr6:151674163 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2423A>G (p.Lys808Arg) single nucleotide variant Inborn genetic diseases [RCV002844818] Chr6:151350814 [GRCh38]
Chr6:151671949 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.3476C>T (p.Pro1159Leu) single nucleotide variant Inborn genetic diseases [RCV002661306] Chr6:151351867 [GRCh38]
Chr6:151673002 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.494C>A (p.Ser165Tyr) single nucleotide variant Inborn genetic diseases [RCV002977434] Chr6:151348885 [GRCh38]
Chr6:151670020 [GRCh37]
Chr6:6q25.1		 uncertain significance
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3 copy number gain not provided [RCV000846496] Chr6:148195086..160127254 [GRCh37]
Chr6:6q24.3-25.3		 pathogenic
NM_005100.4(AKAP12):c.2394C>T (p.Pro798=) single nucleotide variant not provided [RCV000888282] Chr6:151350785 [GRCh38]
Chr6:151671920 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.531G>A (p.Lys177=) single nucleotide variant not provided [RCV000888514] Chr6:151348922 [GRCh38]
Chr6:151670057 [GRCh37]
Chr6:6q25.1		 benign
NM_005100.4(AKAP12):c.1184A>C (p.Lys395Thr) single nucleotide variant Inborn genetic diseases [RCV002683516] Chr6:151349575 [GRCh38]
Chr6:151670710 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.3740A>G (p.Asp1247Gly) single nucleotide variant Inborn genetic diseases [RCV002887368] Chr6:151352131 [GRCh38]
Chr6:151673266 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2536G>A (p.Val846Met) single nucleotide variant Inborn genetic diseases [RCV002910719] Chr6:151350927 [GRCh38]
Chr6:151672062 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.3748G>A (p.Val1250Met) single nucleotide variant Inborn genetic diseases [RCV002668232] Chr6:151352139 [GRCh38]
Chr6:151673274 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4687C>T (p.Arg1563Cys) single nucleotide variant Inborn genetic diseases [RCV002874136] Chr6:151353078 [GRCh38]
Chr6:151674213 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.755T>C (p.Ile252Thr) single nucleotide variant Inborn genetic diseases [RCV002805028] Chr6:151349146 [GRCh38]
Chr6:151670281 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.5005G>A (p.Gly1669Arg) single nucleotide variant Inborn genetic diseases [RCV003004374] Chr6:151353396 [GRCh38]
Chr6:151674531 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.386C>T (p.Ala129Val) single nucleotide variant Inborn genetic diseases [RCV002849742] Chr6:151348777 [GRCh38]
Chr6:151669912 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4768G>T (p.Ala1590Ser) single nucleotide variant Inborn genetic diseases [RCV002930753] Chr6:151353159 [GRCh38]
Chr6:151674294 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.923G>A (p.Arg308His) single nucleotide variant Inborn genetic diseases [RCV002767082] Chr6:151349314 [GRCh38]
Chr6:151670449 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2345A>C (p.Asp782Ala) single nucleotide variant Inborn genetic diseases [RCV002989520] Chr6:151350736 [GRCh38]
Chr6:151671871 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4813G>C (p.Ala1605Pro) single nucleotide variant Inborn genetic diseases [RCV002718369] Chr6:151353204 [GRCh38]
Chr6:151674339 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2011C>T (p.Arg671Cys) single nucleotide variant Inborn genetic diseases [RCV002714053] Chr6:151350402 [GRCh38]
Chr6:151671537 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.11G>A (p.Gly4Glu) single nucleotide variant Inborn genetic diseases [RCV002965028] Chr6:151240573 [GRCh38]
Chr6:151561708 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4383T>G (p.Asn1461Lys) single nucleotide variant Inborn genetic diseases [RCV002963944] Chr6:151352774 [GRCh38]
Chr6:151673909 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4814C>T (p.Ala1605Val) single nucleotide variant Inborn genetic diseases [RCV002718371] Chr6:151353205 [GRCh38]
Chr6:151674340 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.1444C>G (p.Leu482Val) single nucleotide variant Inborn genetic diseases [RCV002989330] Chr6:151349835 [GRCh38]
Chr6:151670970 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2974G>A (p.Glu992Lys) single nucleotide variant Inborn genetic diseases [RCV002718001] Chr6:151351365 [GRCh38]
Chr6:151672500 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.949A>G (p.Lys317Glu) single nucleotide variant Inborn genetic diseases [RCV002648287] Chr6:151349340 [GRCh38]
Chr6:151670475 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.3269C>T (p.Thr1090Met) single nucleotide variant Inborn genetic diseases [RCV002670408] Chr6:151351660 [GRCh38]
Chr6:151672795 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.4939G>C (p.Glu1647Gln) single nucleotide variant Inborn genetic diseases [RCV002723676] Chr6:151353330 [GRCh38]
Chr6:151674465 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2998A>C (p.Thr1000Pro) single nucleotide variant Inborn genetic diseases [RCV002677546] Chr6:151351389 [GRCh38]
Chr6:151672524 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.4403C>G (p.Pro1468Arg) single nucleotide variant Inborn genetic diseases [RCV003204390] Chr6:151352794 [GRCh38]
Chr6:151673929 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.3277G>A (p.Val1093Met) single nucleotide variant Inborn genetic diseases [RCV003200828] Chr6:151351668 [GRCh38]
Chr6:151672803 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.1375C>T (p.Pro459Ser) single nucleotide variant Inborn genetic diseases [RCV002878497] Chr6:151349766 [GRCh38]
Chr6:151670901 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.3170C>G (p.Pro1057Arg) single nucleotide variant Inborn genetic diseases [RCV002723765] Chr6:151351561 [GRCh38]
Chr6:151672696 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.1417G>A (p.Gly473Arg) single nucleotide variant Inborn genetic diseases [RCV003184166] Chr6:151349808 [GRCh38]
Chr6:151670943 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.2690C>T (p.Ala897Val) single nucleotide variant Inborn genetic diseases [RCV003185032] Chr6:151351081 [GRCh38]
Chr6:151672216 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.1744G>A (p.Gly582Ser) single nucleotide variant Inborn genetic diseases [RCV003213392] Chr6:151350135 [GRCh38]
Chr6:151671270 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.748G>A (p.Ala250Thr) single nucleotide variant Inborn genetic diseases [RCV003201770] Chr6:151349139 [GRCh38]
Chr6:151670274 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.328A>G (p.Arg110Gly) single nucleotide variant Inborn genetic diseases [RCV003198348] Chr6:151348719 [GRCh38]
Chr6:151669854 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.499G>C (p.Ala167Pro) single nucleotide variant Inborn genetic diseases [RCV003191363] Chr6:151348890 [GRCh38]
Chr6:151670025 [GRCh37]
Chr6:6q25.1		 uncertain significance
NM_005100.4(AKAP12):c.3388A>G (p.Ile1130Val) single nucleotide variant Inborn genetic diseases [RCV003183144] Chr6:151351779 [GRCh38]
Chr6:151672914 [GRCh37]
Chr6:6q25.1		 likely benign
NM_005100.4(AKAP12):c.2815A>G (p.Arg939Gly) single nucleotide variant Inborn genetic diseases [RCV003180431] Chr6:151351206 [GRCh38]
Chr6:151672341 [GRCh37]
Chr6:6q25.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR183hsa-miR-183-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI20979053
MIR186hsa-miR-186-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI20979053
MIR186hsa-miR-186-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:2389
Count of miRNA genes:752
Interacting mature miRNAs:858
Transcripts:ENST00000253332, ENST00000354675, ENST00000359755, ENST00000402676, ENST00000490177
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.

Markers in Region
RH48460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,671,076 - 151,671,209UniSTSGRCh37
Build 366151,712,769 - 151,712,902RGDNCBI36
Celera6152,404,960 - 152,405,093RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,233,322 - 149,233,455UniSTS
GeneMap99-GB4 RH Map6602.38UniSTS
NCBI RH Map61598.0UniSTS
RH94092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,630,863 - 151,631,036UniSTSGRCh37
Build 366151,672,556 - 151,672,729RGDNCBI36
Celera6152,364,757 - 152,364,930RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,193,186 - 149,193,359UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
RH120332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,610,863 - 151,611,161UniSTSGRCh37
Build 366151,652,556 - 151,652,854RGDNCBI36
Celera6152,344,758 - 152,345,056RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,173,203 - 149,173,501UniSTS
TNG Radiation Hybrid Map673554.0UniSTS
D6S320E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,591,699 - 151,591,799UniSTSGRCh37
Build 366151,633,392 - 151,633,492RGDNCBI36
Celera6152,325,586 - 152,325,686RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,153,965 - 149,154,065UniSTS
D6S476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,593,603 - 151,593,782UniSTSGRCh37
Build 366151,635,296 - 151,635,475RGDNCBI36
Celera6152,327,490 - 152,327,669RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,155,990 - 149,156,196UniSTS
HuRef6149,156,017 - 149,156,196UniSTS
Marshfield Genetic Map6153.04UniSTS
TNG Radiation Hybrid Map673539.0UniSTS
deCODE Assembly Map6155.75UniSTS
Stanford-G3 RH Map66053.0UniSTS
Whitehead-RH Map6813.3UniSTS
Whitehead-RH Map6814.9UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map61614.2UniSTS
SHGC-31130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,679,466 - 151,679,591UniSTSGRCh37
Build 366151,721,159 - 151,721,284RGDNCBI36
Celera6152,413,352 - 152,413,477RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,241,711 - 149,241,836UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
Whitehead-RH Map6813.2UniSTS
NCBI RH Map61614.2UniSTS
GeneMap99-G3 RH Map66356.0UniSTS
STS-M96322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,677,428 - 151,677,655UniSTSGRCh37
Build 366151,719,121 - 151,719,348RGDNCBI36
Celera6152,411,315 - 152,411,542RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,239,678 - 149,239,905UniSTS
GeneMap99-GB4 RH Map6600.27UniSTS
NCBI RH Map61611.9UniSTS
SHGC-34852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,678,888 - 151,679,013UniSTSGRCh37
Build 366151,720,581 - 151,720,706RGDNCBI36
Celera6152,412,774 - 152,412,899RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,241,133 - 149,241,258UniSTS
Stanford-G3 RH Map66046.0UniSTS
GeneMap99-GB4 RH Map6589.58UniSTS
Whitehead-RH Map6806.0UniSTS
NCBI RH Map61613.3UniSTS
GeneMap99-G3 RH Map66349.0UniSTS
AKAP12__4277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,677,202 - 151,678,098UniSTSGRCh37
Build 366151,718,895 - 151,719,791RGDNCBI36
Celera6152,411,089 - 152,411,985RGD
HuRef6149,239,452 - 149,240,348UniSTS
SHGC-30338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,677,745 - 151,677,882UniSTSGRCh37
Build 366151,719,438 - 151,719,575RGDNCBI36
Celera6152,411,632 - 152,411,769RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,239,995 - 149,240,132UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
Whitehead-RH Map6813.3UniSTS
NCBI RH Map61613.0UniSTS
GeneMap99-G3 RH Map66356.0UniSTS
RH1532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,585,275 - 151,585,458UniSTSGRCh37
Build 366151,626,968 - 151,627,151RGDNCBI36
Celera6152,319,163 - 152,319,346RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,147,540 - 149,147,723UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
NCBI RH Map61613.0UniSTS
SHGC-33357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,585,369 - 151,585,496UniSTSGRCh37
Build 366151,627,062 - 151,627,189RGDNCBI36
Celera6152,319,257 - 152,319,384RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,147,634 - 149,147,761UniSTS
GeneMap99-G3 RH Map66356.0UniSTS
D6S1869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,677,465 - 151,677,813UniSTSGRCh37
Build 366151,719,158 - 151,719,506RGDNCBI36
Celera6152,411,352 - 152,411,700RGD
Cytogenetic Map6q24-q25UniSTS
HuRef6149,239,715 - 149,240,063UniSTS
Whitehead-YAC Contig Map6 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 5 1 1 1 1
Medium 2003 1870 1265 209 451 147 3185 1246 3296 331 1332 1471 73 1204 1944 3
Low 385 512 445 403 477 307 1168 945 418 83 111 124 98 843 1
Below cutoff 35 600 14 10 965 11 1 3 6 4 10 12 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB003476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB210003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL033392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN480611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA055364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ584338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U81607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253332   ⟹   ENSP00000253332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,240,374 - 151,356,773 (+)Ensembl
RefSeq Acc Id: ENST00000354675   ⟹   ENSP00000346702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,325,688 - 151,356,773 (+)Ensembl
RefSeq Acc Id: ENST00000359755   ⟹   ENSP00000352794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,341,686 - 151,356,773 (+)Ensembl
RefSeq Acc Id: ENST00000402676   ⟹   ENSP00000384537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,239,967 - 151,358,559 (+)Ensembl
RefSeq Acc Id: ENST00000490177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,341,702 - 151,349,186 (+)Ensembl
RefSeq Acc Id: NM_001370346   ⟹   NP_001357275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,341,706 - 151,358,559 (+)NCBI
T2T-CHM13v2.06152,542,281 - 152,559,135 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005100   ⟹   NP_005091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,239,967 - 151,358,559 (+)NCBI
GRCh376151,561,134 - 151,679,694 (+)ENTREZGENE
GRCh376151,561,134 - 151,679,694 (+)NCBI
Build 366151,603,202 - 151,719,602 (+)NCBI Archive
HuRef6149,123,664 - 149,241,939 (+)ENTREZGENE
CHM1_16151,825,190 - 151,943,865 (+)NCBI
T2T-CHM13v2.06152,440,587 - 152,559,135 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144497   ⟹   NP_653080
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,325,531 - 151,358,559 (+)NCBI
GRCh376151,561,134 - 151,679,694 (+)ENTREZGENE
GRCh376151,561,134 - 151,679,694 (+)NCBI
Build 366151,688,516 - 151,719,601 (+)NCBI Archive
HuRef6149,123,664 - 149,241,939 (+)ENTREZGENE
CHM1_16151,910,845 - 151,943,865 (+)NCBI
T2T-CHM13v2.06152,526,115 - 152,559,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011517   ⟹   XP_016867006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,239,967 - 151,358,559 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419579   ⟹   XP_047275535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,341,706 - 151,358,559 (+)NCBI
RefSeq Acc Id: XM_054356862   ⟹   XP_054212837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,440,747 - 152,559,135 (+)NCBI
RefSeq Acc Id: XM_054356863   ⟹   XP_054212838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,440,587 - 152,559,135 (+)NCBI
RefSeq Acc Id: XM_054356864   ⟹   XP_054212839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,542,281 - 152,559,135 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_005091   ⟸   NM_005100
- Peptide Label: isoform 1
- UniProtKB: Q99970 (UniProtKB/Swiss-Prot),   Q02952 (UniProtKB/Swiss-Prot),   Q86TJ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_653080   ⟸   NM_144497
- Peptide Label: isoform 2
- UniProtKB: Q02952 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016867006   ⟸   XM_017011517
- Peptide Label: isoform X1
- UniProtKB: Q99970 (UniProtKB/Swiss-Prot),   Q02952 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001357275   ⟸   NM_001370346
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000352794   ⟸   ENST00000359755
RefSeq Acc Id: ENSP00000253332   ⟸   ENST00000253332
RefSeq Acc Id: ENSP00000384537   ⟸   ENST00000402676
RefSeq Acc Id: ENSP00000346702   ⟸   ENST00000354675
RefSeq Acc Id: XP_047275535   ⟸   XM_047419579
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054212838   ⟸   XM_054356863
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212837   ⟸   XM_054356862
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212839   ⟸   XM_054356864
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02952-F1-model_v2 AlphaFold Q02952 1-1782 view protein structure

Promoters
RGD ID:7209439
Promoter ID:EPDNEW_H10466
Type:initiation region
Name:AKAP12_1
Description:A-kinase anchoring protein 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10464  EPDNEW_H10467  EPDNEW_H10468  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,240,410 - 151,240,470EPDNEW
RGD ID:7209443
Promoter ID:EPDNEW_H10467
Type:multiple initiation site
Name:AKAP12_2
Description:A-kinase anchoring protein 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10464  EPDNEW_H10466  EPDNEW_H10468  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,325,676 - 151,325,736EPDNEW
RGD ID:7209445
Promoter ID:EPDNEW_H10468
Type:initiation region
Name:AKAP12_3
Description:A-kinase anchoring protein 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10464  EPDNEW_H10466  EPDNEW_H10467  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,341,706 - 151,341,766EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:370 AgrOrtholog
COSMIC AKAP12 COSMIC
Ensembl Genes ENSG00000131016 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000253332.1 UniProtKB/Swiss-Prot
  ENSP00000346702 ENTREZGENE
  ENSP00000346702.6 UniProtKB/Swiss-Prot
  ENSP00000352794 ENTREZGENE
  ENSP00000352794.5 UniProtKB/Swiss-Prot
  ENSP00000384537 ENTREZGENE
  ENSP00000384537.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000253332.5 UniProtKB/Swiss-Prot
  ENST00000354675 ENTREZGENE
  ENST00000354675.10 UniProtKB/Swiss-Prot
  ENST00000359755 ENTREZGENE
  ENST00000359755.5 UniProtKB/Swiss-Prot
  ENST00000402676 ENTREZGENE
  ENST00000402676.7 UniProtKB/Swiss-Prot
GTEx ENSG00000131016 GTEx
HGNC ID HGNC:370 ENTREZGENE
Human Proteome Map AKAP12 Human Proteome Map
InterPro AKAP12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase-A_anch_WSK-motif UniProtKB/Swiss-Prot
  RII_binding_1 UniProtKB/Swiss-Prot
KEGG Report hsa:9590 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9590 ENTREZGENE
OMIM 604698 OMIM
PANTHER A-KINASE ANCHOR PROTEIN 12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23209 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RII_binding_1 UniProtKB/Swiss-Prot
  WSK UniProtKB/Swiss-Prot
PharmGKB PA24664 PharmGKB
PROSITE AKAP_CAM_BD UniProtKB/Swiss-Prot
UniProt AKA12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6NSG9_HUMAN UniProtKB/TrEMBL
  Q86TJ9 ENTREZGENE, UniProtKB/TrEMBL
  Q99970 ENTREZGENE
UniProt Secondary O00310 UniProtKB/Swiss-Prot
  O00498 UniProtKB/Swiss-Prot
  Q4LE68 UniProtKB/Swiss-Prot
  Q5SZ80 UniProtKB/Swiss-Prot
  Q5TGN1 UniProtKB/Swiss-Prot
  Q68D82 UniProtKB/Swiss-Prot
  Q99970 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 AKAP12  A-kinase anchoring protein 12    A kinase (PRKA) anchor protein 12  Symbol and/or name change 5135510 APPROVED
2011-08-16 AKAP12  A kinase (PRKA) anchor protein 12  AKAP12  A kinase (PRKA) anchor protein 12  Symbol and/or name change 5135510 APPROVED