• Gene id: 9590

Gene Summary

• Gene Symbol: AKAP12   Gene   UCSC   Ensembl
• Aliases: AKAP250, SSeCKS
• Gene name: A-kinase anchoring protein 12
• Alternate names: A-kinase anchor protein 12, A kinase (PRKA) anchor protein 12, A-kinase anchor protein, 250kDa, AKAP 250, Src-Suppressed C Kinase Substrate, kinase scaffold protein gravin, myasthenia gravis autoantigen gravin,
• Gene location: 6q25.1 (151239814: 151358558)     Exons: 8     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 604698

Protein Summary

• Protein general information: Q02952  
  • Name: A kinase anchor protein 12 (AKAP 12) (A kinase anchor protein 250 kDa) (AKAP 250) (Gravin) (Myasthenia gravis autoantigen)
  • Length: 1782  
  • Mass: 191482
  • Tissue specificity: Expressed in endothelial cells, cultured fibroblasts and osteosarcoma, but not in platelets, leukocytes, monocytic cell lines or peripherical blood cells.
• Sequence:

  MGAGSSTEQRSPEQPPEGSSTPAEPEPSGGGPSAEAAPDTTADPAIAASDPATKLLQKNGQLSTINGVAEQDELS
  LQEGDLNGQKGALNGQGALNSQEEEEVIVTEVGQRDSEDVSKRDSDKEMATKSAVVHDITDDGQEETPEIIEQIP
  SSESNLEELTQPTESQANDIGFKKVFKFVGFKFTVKKDKTEKPDTVQLLTVKKDEGEGAAGAGDHKDPSLGAGEA
  ASKESEPKQSTEKPEETLKREQSHAEISPPAESGQAVEECKEEGEEKQEKEPSKSAESPTSPVTSETGSTFKKFF
  TQGWAGWRKKTSFRKPKEDEVEASEKKKEQEPEKVDTEEDGKAEVASEKLTASEQAHPQEPAESAHEPRLSAEYE
  KVELPSEEQVSGSQGPSEEKPAPLATEVFDEKIEVHQEEVVAEVHVSTVEERTEEQKTEVEETAGSVPAEELVEM
  DAEPQEAEPAKELVKLKETCVSGEDPTQGADLSPDEKVLSKPPEGVVSEVEMLSSQERMKVQGSPLKKLFTSTGL
  KKLSGKKQKGKRGGGDEESGEHTQVPADSPDSQEEQKGESSASSPEEPEEITCLEKGLAEVQQDGEAEEGATSDG
  EKKREGVTPWASFKKMVTPKKRVRRPSESDKEDELDKVKSATLSSTESTASEMQEEMKGSVEEPKPEEPKRKVDT
  SVSWEALICVGSSKKRARRGSSSDEEGGPKAMGGDHQKADEAGKDKETGTDGILAGSQEHDPGQGSSSPEQAGSP
  TEGEGVSTWESFKRLVTPRKKSKSKLEEKSEDSIAGSGVEHSTPDTEPGKEESWVSIKKFIPGRRKKRPDGKQEQ
  APVEDAGPTGANEDDSDVPAVVPLSEYDAVEREKMEAQQAQKSAEQPEQKAATEVSKELSESQVHMMAAAVADGT
  RAATIIEERSPSWISASVTEPLEQVEAEAALLTEEVLEREVIAEEEPPTVTEPLPENREARGDTVVSEAELTPEA
  VTAAETAGPLGAEEGTEASAAEETTEMVSAVSQLTDSPDTTEEATPVQEVEGGVPDIEEQERRTQEVLQAVAEKV
  KEESQLPGTGGPEDVLQPVQRAEAERPEEQAEASGLKKETDVVLKVDAQEAKTEPFTQGKVVGQTTPESFEKAPQ
  VTESIESSELVTTCQAETLAGVKSQEMVMEQAIPPDSVETPTDSETDGSTPVADFDAPGTTQKDEIVEIHEENEV
  ASGTQSGGTEAEAVPAQKERPPAPSSFVFQEETKEQSKMEDTLEHTDKEVSVETVSILSKTEGTQEADQYADEKT
  KDVPFFEGLEGSIDTGITVSREKVTEVALKGEGTEEAECKKDDALELQSHAKSPPSPVEREMVVQVEREKTEAEP
  THVNEEKLEHETAVTVSEEVSKQLLQTVNVPIIDGAKEVSSLEGSPPPCLGQEEAVCTKIQVQSSEASFTLTAAA
  EEEKVLGETANILETGETLEPAGAHLVLEEKSSEKNEDFAAHPGEDAVPTGPDCQAKSTPVIVSATTKKGLSSDL
  EGEKTTSLKWKSDEVDEQVACQEVKVSVAIEDLEPENGILELETKSSKLVQNIIQTAVDQFVRTEETATEMLTSE
  LQTQAHVIKADSQDAGQETEKEGEEPQASAQDETPITSAKEESESTAVGQAHSDISKDMSEASEKTMTVEVEGST
  VNDQQLEEVVLPSEEEGGGAGTKSVPEDDGHALLAERIEKSLVEPKEDEKGDDVDDPENQNSALADTDASGGLTK
  ESPDTNGPKQKEKEDAQEVELQEGKVHSESDKAITPQAQEELQKQERESAKSELTES

• Structural information:
  • Interpro: IPR028540  IPR001573  IPR018459  
  • Prosite: PS51893
  • STRING: ENSP00000384537
• Other Databases: GeneCards:  AKAP12  Malacards:  AKAP12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006605	protein targeting	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0051018	protein kinase A binding	IEA	molecular function
GO:0010739	positive regulation of protein kinase A signaling	IEA	biological process
GO:0090036	regulation of protein kinase C signaling	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0051018	protein kinase A binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0043116	negative regulation of vascular permeability	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	IEA	biological process
GO:1900143	positive regulation of oligodendrocyte apoptotic process	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0061870	positive regulation of hepatic stellate cell migration	IEA	biological process
GO:0051770	positive regulation of nitric-oxide synthase biosynthetic process	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IEA	biological process
GO:0035733	hepatic stellate cell activation	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IMP	biological process
GO:0010738	regulation of protein kinase A signaling	IMP	biological process
GO:0008179	adenylate cyclase binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0008179	adenylate cyclase binding	IPI	molecular function

Diseases

Associated diseases	References
Juvenile myelomonocytic leukemia	PMID:26891149
colorectal carcinoma	PMID:21918680
Chronic kidney disease	PMID:19724895
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq