1. Gene
  2. RALGAPA2 - Ral GTPase activating protein catalytic subunit alpha 2 Gene

RALGAPA2 - Ral GTPase activating protein catalytic subunit alpha 2 Gene

Homo sapiens

Also known as p220; AS250; C20orf74; dJ1049G11; bA287B20.1; dJ1049G11.4

Gene ID: 57186 | Gene type: protein coding

About RALGAPA2

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:20,389,530-20,712,644 (from NCBI)

This gene has 5 transcripts (splice variants), 221 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 9.1), placenta (RPKM 6.4) and 25 other tissues.

Summary

Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

RALGAPA2 Products(1)

mRNA Protein Name
NM_020343.4 NP_065076.2 ral GTPase-activating protein subunit alpha-2
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16490346 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RALGAPA2 Protein Structure

Rap_GAP

Rap_GAP: Rap/ran-GAP (1664 - 1842)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1873 a.a.
Protein Preferred Names Protein Names

ral GTPase-activating protein subunit alpha-2

250 kDa substrate of Akt

RALGAPA2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RALGAPA2 Q2PPJ7 DDI1 Homo sapiens Q8WTU0 32296183
Intra
RALGAPA2 Q2PPJ7 DDI1 Homo sapiens Q8WTU0 32296183
Intra
RALGAPA2 Q2PPJ7 DDI1 Homo sapiens Q8WTU0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Congenital Myasthenic Syndrome 7

Cms7

Congenital Myasthenic Syndrome 7 Presynaptic

Myasthenic Syndrome, Congenital, Type 7, Presynaptic

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

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

Orthologs Information

Species Symbol Source ID
Felis catus RALGAPA2 VGNC VGNC:81166
Canis familiaris RALGAPA2 VGNC VGNC:45333
Bos taurus RALGAPA2 VGNC VGNC:33702
Macaca mulatta RALGAPA2 VGNC VGNC:76488
Mus musculus RALGAPA2 MGD MGI:3036245
Rattus norvegicus RALGAPA2 RGD RGD:1308023