REPS2 - RALBP1 associated Eps domain containing 2 Gene

Homo sapiens

Also known as POB1

Gene ID: 9185 | Gene type: protein coding

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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11846	REPS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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