ARHGAP36 Rho GTPase activating protein 36 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP36provided by HGNC
Official Full Name: Rho GTPase activating protein 36provided by HGNC
Primary source: HGNC:HGNC:26388
See related: Ensembl:ENSG00000147256 MIM:300937; AllianceGenome:HGNC:26388
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward adrenal (RPKM 54.0) See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (131058346..131089885)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (129378162..129409672)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (130192320..130223859)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Structure-activity mapping of ARHGAP36 reveals regulatory roles for its GAP homology and C-terminal domains.
Title: Structure-activity mapping of ARHGAP36 reveals regulatory roles for its GAP homology and C-terminal domains.
PKA inhibition by ARHGAP36 promotes derepression of the Hedgehog signalling pathway, thereby providing a simple rationale for the upregulation of ARHGAP36 in medulloblastoma.
Title: Bimodal antagonism of PKA signalling by ARHGAP36.
We have reported here for the first time a reduced activity of both Rac1 and Cdc42 in human pheochromocytoma resection as well as tumor-associated expression changes of FARP1, ARHGEF1, and ARHGAP36
Title: Cdc42 and Rac1 activity is reduced in human pheochromocytoma and correlates with FARP1 and ARHGEF1 expression.
a new mechanism of Gli transcription factor activation and implicate ARHGAP36 dysregulation in the onset and/or progression of GLI-dependent cancers.
Title: Arhgap36-dependent activation of Gli transcription factors.
ARHGAP36 isoforms capable of Gli activation are up-regulated in a subset of human medulloblastomas.
Title: Arhgap36-dependent activation of Gli transcription factors.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G59719 (e-PCR)
- UniSTS:137017

WI-13730 (e-PCR)
- UniSTS:19513

SHGC-142312 (e-PCR)
- UniSTS:171383

DXS7024E (e-PCR)
- UniSTS:72922

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rho GTPase-activating protein 36

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.

mRNA and Protein(s)

NM_001282607.2 → NP_001269536.1 rho GTPase-activating protein 36 isoform 2

See identical proteins and their annotated locations for NP_001269536.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 5' coding region whihc results in the use of an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AA405456, AK296748, AL590131

Consensus CDS

CCDS65320.1

UniProtKB/TrEMBL

A0A2X0TVT1

Related

ENSP00000359960.1, ENST00000370922.5

Conserved Domains (1) summary

cd04376
Location:215 → 420

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
NM_001330651.1 → NP_001317580.1 rho GTPase-activating protein 36 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL590131

Consensus CDS

CCDS83489.1

UniProtKB/Swiss-Prot

Q6ZRI8

Related

ENSP00000359959.1, ENST00000370921.1

Conserved Domains (1) summary

cd04376
Location:91 → 296

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
NM_144967.4 → NP_659404.2 rho GTPase-activating protein 36 isoform 1 precursor

See identical proteins and their annotated locations for NP_659404.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK128203, AL590131, BC063790, CD107623

Consensus CDS

CCDS14628.1

UniProtKB/Swiss-Prot

B7Z234, B7Z439, Q5JRL9, Q5JRM0, Q5JRM1, Q6ZRI8, Q96NU6

UniProtKB/TrEMBL

A0A2X0TVT1

Related

ENSP00000276211.5, ENST00000276211.10

Conserved Domains (1) summary

cd04376
Location:227 → 432

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

131058346..131089885

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531280.2 → XP_011529582.1 rho GTPase-activating protein 36 isoform X1

See identical proteins and their annotated locations for XP_011529582.1

UniProtKB/Swiss-Prot

Q6ZRI8

Conserved Domains (1) summary

cd04376
Location:91 → 296

RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...