AKAP12 - A-kinase anchoring protein 12 Gene

Homo sapiens

Also known as SSeCKS; AKAP250

Gene ID: 9590 | Gene type: protein coding

About AKAP12

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:151,239,967-151,358,559 (from NCBI)

This gene has 5 transcripts (splice variants) and 219 orthologues. Broad expression in testis (RPKM 48.0), fat (RPKM 27.1) and 20 other tissues.

Summary

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 encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and Phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP12 Products(3)

mRNA	Protein	Name
NM_001370346.1	NP_001357275.1	A-kinase anchor protein 12 isoform 3
NM_005100.4	NP_005091.2	A-kinase anchor protein 12 isoform 1
NM_144497.2	NP_653080.1	A-kinase anchor protein 12 isoform 2

AKAP12 Protein Structure

WSK

RII_binding_1

0
300
600
900
1200
1500
1782 a.a.

Protein Preferred Names

Protein Names

A-kinase anchor protein 12

A kinase (PRKA) anchor protein 12

Related Diseases

Diseases

Alias

Myasthenia Gravis

MG	Acquired Myasthenia
Autoimmune Myasthenia Gravis	Erb-Goldflam Disease
Mg - [Myasthenia Gravis]	Myasthenia Gravis Nos
Myasthenia

Myasthenic Syndrome, Congenital, 15

Congenital Myasthenic Syndrome 15	CMS15
Myasthenic Syndrome, Congenital, Without Tubular Aggregates	Cmswta
Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates	Congenital Myasthenic Syndrome 15 Without Tubular Aggregates
Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates

Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 9	CMS9
Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00515	AKAP12 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AKAP12	RGD	RGD:70988
Macaca mulatta	AKAP12	VGNC	VGNC:69766
Bos taurus	AKAP12	VGNC	VGNC:25782
Canis familiaris	AKAP12	VGNC	VGNC:37754
Mus musculus	AKAP12	MGD	MGI:1932576

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