REPS2 - RALBP1 associated Eps domain containing 2 Gene

Also Known as POB1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9185

About REPS2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:16,946,658-17,196,655 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues and 10 paralogues. Broad expression in brain (RPKM 10.4), adrenal (RPKM 6.0) and 23 other tissues.

Summary

The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

REPS2 Products (2)

mRNA Protein Name
NM_001080975.2 NP_001074444.1 ralBP1-associated Eps domain-containing protein 2 isoform 2
NM_004726.3 NP_004717.2 ralBP1-associated Eps domain-containing protein 2 isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
9422736 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

REPS2 Protein Structure

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (278 - 366)

  • 0
  • 200
  • 400
  • 600
  • 660 a.a.
Protein Preferred Names Protein Names

ralBP1-associated Eps domain-containing protein 2

  • RALBP1-interacting protein 2

REPS2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
REPS2 Q8NFH8 GRB2 Homo sapiens P62993
Peptide Array
18647389
Cross
REPS2 Q8NFH8 Eps15 Mus musculus P42567
Pull Down
18154663
Cross
REPS2 Q8NFH8 Eps15 Mus musculus P42567
Peptide Array
18154663
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nance-Horan Syndrome

  • NHS

  • Cataract-Dental Syndrome

  • Cataract, X-Linked, With Hutchinsonian Teeth

  • Mesiodens-Cataract Syndrome

  • Cataract X-Linked With Hutchinsonian Teeth

  • Cataract Dental Syndrome

  • Mesiodens Cataract Syndrome
Prostate Cancer

  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11846 REPS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus REPS2 VGNC VGNC:69289
Macaca mulatta REPS2 VGNC VGNC:76896
Canis familiaris REPS2 VGNC VGNC:45475
Rattus norvegicus REPS2 RGD RGD:1561642
Bos taurus REPS2 VGNC VGNC:33870
Mus musculus REPS2 MGD MGI:2663511
Others REPS2 NCBI