Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9465
Gene name	A-kinase anchoring protein 7
Gene symbol	AKAP7
Synonyms (NCBI Gene)	AKAP15AKAP18
Chromosome	6
Chromosome location	6q23.2
Summary	This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartment

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019848	hsa-miR-375	Microarray	20215506
MIRT024297	hsa-miR-215-5p	Microarray	19074876
MIRT026405	hsa-miR-192-5p	Microarray	19074876
MIRT030508	hsa-miR-24-3p	Microarray	19748357
MIRT041881	hsa-miR-484	CLASH	23622248
MIRT775955	hsa-miR-153	CLIP-seq
MIRT775956	hsa-miR-217	CLIP-seq
MIRT775957	hsa-miR-3117-3p	CLIP-seq
MIRT775958	hsa-miR-548l	CLIP-seq
MIRT775959	hsa-miR-548n	CLIP-seq
MIRT775960	hsa-miR-342-3p	CLIP-seq
MIRT775961	hsa-miR-4740-3p	CLIP-seq
MIRT775962	hsa-miR-539	CLIP-seq
MIRT775958	hsa-miR-548l	CLIP-seq
MIRT775959	hsa-miR-548n	CLIP-seq
MIRT775958	hsa-miR-548l	CLIP-seq
MIRT775959	hsa-miR-548n	CLIP-seq
MIRT1928981	hsa-miR-1267	CLIP-seq
MIRT1928982	hsa-miR-136	CLIP-seq
MIRT1928983	hsa-miR-3182	CLIP-seq
MIRT1928984	hsa-miR-4652-3p	CLIP-seq
MIRT1928985	hsa-miR-4659a-3p	CLIP-seq
MIRT1928986	hsa-miR-4659b-3p	CLIP-seq
MIRT775958	hsa-miR-548l	CLIP-seq
MIRT775959	hsa-miR-548n	CLIP-seq
MIRT775958	hsa-miR-548l	CLIP-seq
MIRT775959	hsa-miR-548n	CLIP-seq
MIRT2472407	hsa-miR-1264	CLIP-seq
MIRT2472408	hsa-miR-2053	CLIP-seq
MIRT2472409	hsa-miR-21	CLIP-seq
MIRT2472410	hsa-miR-218	CLIP-seq
MIRT2472411	hsa-miR-3668	CLIP-seq
MIRT2472412	hsa-miR-382	CLIP-seq
MIRT2472413	hsa-miR-3973	CLIP-seq
MIRT2472414	hsa-miR-452	CLIP-seq
MIRT2472415	hsa-miR-4676-3p	CLIP-seq
MIRT2472416	hsa-miR-4680-3p	CLIP-seq
MIRT2472417	hsa-miR-4693-5p	CLIP-seq
MIRT2472418	hsa-miR-4732-5p	CLIP-seq
MIRT2472419	hsa-miR-520g	CLIP-seq
MIRT2472420	hsa-miR-520h	CLIP-seq
MIRT2472421	hsa-miR-569	CLIP-seq
MIRT2472422	hsa-miR-579	CLIP-seq
MIRT2472423	hsa-miR-590-5p	CLIP-seq
MIRT2472424	hsa-miR-598	CLIP-seq
MIRT2472425	hsa-miR-628-5p	CLIP-seq
MIRT2472409	hsa-miR-21	CLIP-seq
MIRT2472410	hsa-miR-218	CLIP-seq
MIRT2472411	hsa-miR-3668	CLIP-seq
MIRT2472412	hsa-miR-382	CLIP-seq
MIRT2472413	hsa-miR-3973	CLIP-seq
MIRT2472414	hsa-miR-452	CLIP-seq
MIRT2472415	hsa-miR-4676-3p	CLIP-seq
MIRT2472416	hsa-miR-4680-3p	CLIP-seq
MIRT2472417	hsa-miR-4693-5p	CLIP-seq
MIRT2472418	hsa-miR-4732-5p	CLIP-seq
MIRT2472419	hsa-miR-520g	CLIP-seq
MIRT2472420	hsa-miR-520h	CLIP-seq
MIRT2472422	hsa-miR-579	CLIP-seq
MIRT2472423	hsa-miR-590-5p	CLIP-seq
MIRT2472424	hsa-miR-598	CLIP-seq
MIRT2472425	hsa-miR-628-5p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001508	Process	Action potential	IDA	11299204
GO:0005515	Function	Protein binding	IPI	17244820, 25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	10613906
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10613906
GO:0006811	Process	Monoatomic ion transport	TAS	9545239
GO:0008104	Process	Intracellular protein localization	IC	9545239
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	10613906
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	10613906
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0032991	Component	Protein-containing complex	IDA	25097019
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA
GO:0034237	Function	Protein kinase A regulatory subunit binding	IEA
GO:0035556	Process	Intracellular signal transduction	TAS	10613906
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051018	Function	Protein kinase A binding	IDA	9545239, 10613906
GO:0051018	Function	Protein kinase A binding	IEA
GO:0051018	Function	Protein kinase A binding	IPI	25097019
GO:0051018	Function	Protein kinase A binding	TAS	10613906
GO:0060306	Process	Regulation of membrane repolarization	IDA	11299204
GO:0071320	Process	Cellular response to cAMP	IDA	11299204
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	11299204

MIM	HGNC	e!Ensembl
604693	377	ENSG00000118507

O43687

Protein name

A-kinase anchor protein 7 isoforms alpha and beta (AKAP-7 isoforms alpha and beta) (A-kinase anchor protein 18 kDa) (AKAP 18) (Protein kinase A-anchoring protein 7 isoforms alpha/beta) (PRKA7 isoforms alpha/beta)

Protein function

Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic f

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10470	AKAP7_RIRII_bdg	45 → 102	PKA-RI-RII subunit binding domain of A-kinase anchor protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, lung, pancreas and skeletal muscle. {ECO:0000269|PubMed:9545239}.

Sequence

MGQLCCFPFSRDEGKISELESSSSAVLQRYSKDIPSWSSGEKNGGEPDDAELVRLSKRLV
ENAVLKAVQQYLEETQNKNKPGEGSSVKTEAADQNGNDNENNRK

Sequence length

104

Q9P0M2

Protein name

A-kinase anchor protein 7 isoform gamma (AKAP-7 isoform gamma) (A-kinase anchor protein 18 kDa) (AKAP 18) (Protein kinase A-anchoring protein 7 isoform gamma) (PRKA7 isoform gamma)

Protein function

Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate E

PDB

4ZP3 , 5JJ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10469	AKAP7_NLS	85 → 283		Domain
PF10470	AKAP7_RIRII_bdg	289 → 346	PKA-RI-RII subunit binding domain of A-kinase anchor protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, lung, pancreas and placenta. {ECO:0000269|PubMed:10613906}.

Sequence

MERPEAGGINSNECENVSRKKKMSEEFEANTMDSLVDMPFATVDIQDDCGITDEPQINLK
RSQENEWVKSDQVKKRKKKRKDYQPNYFLSIPITNKEIIKGIKILQNAIIQQDERLAKAM
VSDGSFHITLLVMQLLNEDEVNIGIDALLELKPFIEELLQGKHLTLPFQGIGTFGNQVGF
VKLAEGDHVNSLLEIAETANRTFQEKGILVGESRSFKPHLTFMKLSKSPWLRKNGVKKID
PDLYEKFISHRFGEEILYRIDLCSMLKKKQSNGYYHCESSIVIGEKNGGEPDDAELVRLS
KRLVENAVLKAVQQYLEETQNKNKPGEGSSVKTEAADQNGNDNENNRK

Sequence length

348

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit and Disruptive Behavior Disorders	Associate	28446746	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glut1 Deficiency Syndrome	Stimulate	28446746	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	37123010	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Associate	28446746	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	37123010	★★★★★ ★☆☆☆☆ Found in Text Mining only

AKAP7 (A-kinase anchoring protein 7)