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  2. ARHGAP4 - Rho GTPase activating protein 4 Gene

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

ARHGAP4 Protein Structure

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (23 - 124)

RhoGAP

RhoGAP: RhoGAP domain (521 - 669)

SH3_1

SH3_1: SH3 domain (752 - 797)

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  • 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

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