ARHGAP4 - Rho GTPase activating protein 4 Gene

Homo sapiens

Also known as C1; RGC1; p115; SrGAP4; RhoGAP4

Gene ID: 393 | Gene type: protein coding

About ARHGAP4

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,907,378-153,926,264 (from NCBI)

This gene has 25 transcripts (splice variants), 248 orthologues and 5 paralogues. Broad expression in spleen (RPKM 47.8), bone marrow (RPKM 45.7) and 16 other tissues.

Summary

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the Ras superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

ARHGAP4 Products(2)

mRNA	Protein	Name
NM_001164741.2	NP_001158213.1	rho GTPase-activating protein 4 isoform 1
NM_001666.5	NP_001657.3	rho GTPase-activating protein 4 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	26365803	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16417406	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

ARHGAP4 Protein Structure

FCH

RhoGAP

SH3_1

0
200
400
600
800
946 a.a.

Protein Preferred Names

Protein Names

rho GTPase-activating protein 4

Rho-GAP hematopoietic protein C1

Related Diseases

Diseases

Alias

Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus	Diabetes Insipidus, Nephrogenic
Diabetes Insipidus Nephrogenic	Congenital Nephrogenic Diabetes Insipidus
Adh Resistant Diabetes Insipidus	Diabetes Insipidus Nephrogenic X-Linked
Diabetes Insipidus Nephrogenic Type 1	Adh-Resistant Diabetes Insipidus
Diabetes Insipidus Renalis	Ndi
Renal Diabetes Insipidus	Familial Nephrogenic Diabetes
Antidiuretic-Hormone-Resistant Diabetes Insipidus	Adiuretin-Resistant Diabetes Insipidus
Ndi - [Nephrogenic Diabetes Insipidus]	Diabetes Tenuifluus
Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus	Hereditary Nephrogenic Diabetes Insipidus
Familial Nephrogenic Diabetes Insipidus	Primary Nephrogenic Diabetes Insipidus

Diabetes Insipidus

X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1

Doid:0081060

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-RS00935	ARHGAP4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ARHGAP4	MGD	MGI:2159577
Rattus norvegicus	ARHGAP4	RGD	RGD:628901
Felis catus	ARHGAP4	VGNC	VGNC:68113
Canis familiaris	ARHGAP4	VGNC	VGNC:38063
Bos taurus	ARHGAP4	VGNC	VGNC:26095
Macaca mulatta	ARHGAP4	VGNC	VGNC:70007

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