ARHGAP40 Rho GTPase activating protein 40 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP40provided by HGNC
Official Full Name: Rho GTPase activating protein 40provided by HGNC
Primary source: HGNC:HGNC:16226
See related: Ensembl:ENSG00000124143 AllianceGenome:HGNC:16226
Gene type: protein coding
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C20orf95; dJ1100H13.4
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in regulation of actin filament polymerization and regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in skin (RPKM 12.2), esophagus (RPKM 3.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (38601809..38650653)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (40331453..40380311)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (37230452..37279296)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-107732 (e-PCR)
- UniSTS:173851

GDB:313405 (e-PCR)
- UniSTS:156449

Z94371 (e-PCR)
- UniSTS:25910

D20S1152 (e-PCR)
- UniSTS:60629

D20S478 (e-PCR), detects polymorphism
- UniSTS:29175

Homology

Homologs of the ARHGAP40 gene: The ARHGAP40 gene is conserved in chimpanzee, Rhesus monkey, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 284 organisms have orthologs with human gene ARHGAP40
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rho GTPase-activating protein 40

Names: rho-type GTPase-activating protein 40

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.