Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9590
Gene name Gene Name - the full gene name approved by the HGNC.
A-kinase anchoring protein 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AKAP12
Synonyms (NCBI Gene) Gene synonyms aliases
AKAP250, SSeCKS
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005870 hsa-miR-183-5p Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20979053
MIRT005870 hsa-miR-183-5p Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20979053
MIRT005871 hsa-miR-186-5p Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20979053
MIRT005871 hsa-miR-186-5p Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20979053
MIRT023602 hsa-miR-1-3p Proteomics 18668040
Transcription factors
Transcription factor Regulation Reference
HDAC7 Repression 22584896
STAT3 Activation 22584896
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16642035, 20029029, 20195357, 21900206, 23414517, 31980649, 35271311
GO:0005516 Function Calmodulin binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 10858453
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604698 370 ENSG00000131016
Protein
UniProt ID Q02952
Protein name A-kinase anchor protein 12 (AKAP-12) (A-kinase anchor protein 250 kDa) (AKAP 250) (Gravin) (Myasthenia gravis autoantigen)
Protein function Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03832 WSK 605 633 WSK motif Motif
PF03832 WSK 754 782 WSK motif Motif
PF03832 WSK 799 826 WSK motif Motif
PF10522 RII_binding_1 1540 1558 RII binding domain Motif
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial cells, cultured fibroblasts and osteosarcoma, but not in platelets, leukocytes, monocytic cell lines or peripherical blood cells.
Sequence
MGAGSSTEQRSPEQPPEGSSTPAEPEPSGGGPSAEAAPDTTADPAIAASDPATKLLQKNG
QLSTINGVAEQDELSLQEGDLNGQKGALNGQGALNSQEEEEVIVTEVGQRDSEDVSKRDS
DKEMATKSAVVHDITDDGQEETPEIIEQIPSSESNLEELTQPTESQANDIGFKKVFKFVG
FKFTVKKDKTEKPDTVQLLTVKKDEGEGAAGAGDHKDPSLGAGEAASKESEPKQSTEKPE
ETLKREQSHAEISPPAESGQAVEECKEEGEEKQEKEPSKSAESPTSPVTSETGSTFKKFF
TQGWAGWRKKTSFRKPKEDEVEASEKKKEQEPEKVDTEEDGKAEVASEKLTASEQAHPQE
PAESAHEPRLSAEYEKVELPSEEQVSGSQGPSEEKPAPLATEVFDEKIEVHQEEVVAEVH
VSTVEERTEEQKTEVEETAGSVPAEELVEMDAEPQEAEPAKELVKLKETCVSGEDPTQGA
DLSPDEKVLSKPPEGVVSEVEMLSSQERMKVQGSPLKKLFTSTGLKKLSGKKQKGKRGGG
DEESGEHTQVPADSPDSQEEQKGESSASSPEEPEEITCLEKGLAEVQQDGEAEEGATSDG
EKKREGVTPWASFKKMVTPKKRVRRPSESDKEDELDKVKSATLSSTESTASEMQEEMKGS
VEEPKPEEPKRKVDTSVSWEALICVGSSKKRARRGSSSDEEGGPKAMGGDHQKADEAGKD
KETGTDGILAGSQEHDPGQGSSSPEQAGSPTEGEGVSTWESFKRLVTPRKKSKSKLEEKS
ED
SIAGSGVEHSTPDTEPGKEESWVSIKKFIPGRRKKRPDGKQEQAPVEDAGPTGANEDD
SDVPAVVPLSEYDAVEREKMEAQQAQKSAEQPEQKAATEVSKELSESQVHMMAAAVADGT
RAATIIEERSPSWISASVTEPLEQVEAEAALLTEEVLEREVIAEEEPPTVTEPLPENREA
RGDTVVSEAELTPEAVTAAETAGPLGAEEGTEASAAEETTEMVSAVSQLTDSPDTTEEAT
PVQEVEGGVPDIEEQERRTQEVLQAVAEKVKEESQLPGTGGPEDVLQPVQRAEAERPEEQ
AEASGLKKETDVVLKVDAQEAKTEPFTQGKVVGQTTPESFEKAPQVTESIESSELVTTCQ
AETLAGVKSQEMVMEQAIPPDSVETPTDSETDGSTPVADFDAPGTTQKDEIVEIHEENEV
ASGTQSGGTEAEAVPAQKERPPAPSSFVFQEETKEQSKMEDTLEHTDKEVSVETVSILSK
TEGTQEADQYADEKTKDVPFFEGLEGSIDTGITVSREKVTEVALKGEGTEEAECKKDDAL
ELQSHAKSPPSPVEREMVVQVEREKTEAEPTHVNEEKLEHETAVTVSEEVSKQLLQTVNV
PIIDGAKEVSSLEGSPPPCLGQEEAVCTKIQVQSSEASFTLTAAAEEEKVLGETANILET
GETLEPAGAHLVLEEKSSEKNEDFAAHPGEDAVPTGPDCQAKSTPVIVSATTKKGLSSDL
EGEKTTSLKWKSDEVDEQVACQEVKVSVAIEDLEPENGILELETKSSKLVQNIIQTAVDQ
FVRTEETATEMLTSELQTQAHVIKADSQDAGQETEKEGEEPQASAQDETPITSAKEESES
TAVGQAHSDISKDMSEASEKTMTVEVEGSTVNDQQLEEVVLPSEEEGGGAGTKSVPEDDG
HALLAERIEKSLVEPKEDEKGDDVDDPENQNSALADTDASGGLTKESPDTNGPKQKEKED
AQEVELQEGKVHSESDKAITPQAQEELQKQERESAKSELTES
Sequence length 1782
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Refractory with Excess of Blasts Associate 17686059
Arthritis Rheumatoid Associate 29137139
Astrocytoma Associate 24042196
Ataxia Telangiectasia Associate 27683220
Barrett Esophagus Associate 30670490
Breast Neoplasms Associate 26645718, 35151276
Carcinogenesis Associate 24065476, 26891149
Colorectal Neoplasms Associate 20364105, 24065476, 24125984, 24133572, 36122629
Diabetic Foot Associate 34483150
Drug Resistant Epilepsy Associate 17686059