ARHGAP24 Rho GTPase activating protein 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP24provided by HGNC
Official Full Name: Rho GTPase activating protein 24provided by HGNC
Primary source: HGNC:HGNC:25361
See related: Ensembl:ENSG00000138639 MIM:610586; AllianceGenome:HGNC:25361
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p73; FILGAP; RCGAP72; RC-GAP72; p73RhoGAP
Summary: This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression: Broad expression in kidney (RPKM 13.8), thyroid (RPKM 4.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q21.23-q21.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (85475150..86002666)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (88804774..89332147)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (86396303..86923819)

Chromosome 4 - NC_000004.12 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?

FilGAP regulates tumor growth in Glioma through the regulation of mTORC1 and mTORC2.
Title: FilGAP regulates tumor growth in Glioma through the regulation of mTORC1 and mTORC2.
ARHGAP24 represses beta-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold.
Title: ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold.
FilGAP, a GAP protein for Rac, regulates front-rear polarity and tumor cell migration through the ECM.
Title: FilGAP, a GAP protein for Rac, regulates front-rear polarity and tumor cell migration through the ECM.
ARHGAP24 inhibits cell proliferation and cell cycle progression and induces apoptosis of lung cancer via a STAT6-WWP2-p27 axis.
Title: ARHGAP24 inhibits cell proliferation and cell cycle progression and induces apoptosis of lung cancer via a STAT6-WWP2-p27 axis.
AGAP1 regulates subcellular localization of FilGAP and control cancer cell invasion.
Title: AGAP1 regulates subcellular localization of FilGAP and control cancer cell invasion.
study showed that HOTAIRM1 suppressed ovarian cancer progression through derepression of ARHGAP24 by sponging miR-106a-5p
Title: HOTAIRM1 suppresses cell proliferation and invasion in ovarian cancer through facilitating ARHGAP24 expression by sponging miR-106a-5p.
Results showed that ARHGAP24 expression was downregulated in lung cancer tissues and cell lines.
Title: Rho GTPase Activating Protein 24 (ARHGAP24) Silencing Promotes Lung Cancer Cell Migration and Invasion by Activating β-Catenin Signaling.
ARHGAP24 can suppress the development of MDA-MB-231 cells via the STAT3 signaling pathway, and sorafenib inhibits cell viability, migration, invasion, and STAT3 activation in MDA-MB-231 cells through ARHGAP24.
Title: Rho GTPase Activating Protein 24 (ARHGAP24) Regulates the Anti-Cancer Activity of Sorafenib Against Breast Cancer MDA-MB-231 Cells via the Signal Transducer and Activator of Transcription 3 (STAT3) Signaling Pathway.
MicroRNA-590-5p regulates cell viability, apoptosis, migration and invasion of renal cell carcinoma cell lines through targeting ARHGAP24
Title: MicroRNA-590-5p regulates cell viability, apoptosis, migration and invasion of renal cell carcinoma cell lines through targeting ARHGAP24.
ARHGAP24 plays a unique role in renal cell carcinoma progression as a tumor repressor.
Title: ARHGAP24 inhibits cell cycle progression, induces apoptosis and suppresses invasion in renal cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

EBI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of PR interval. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Several common variants modulate heart rate, PR interval and QRS duration. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

STS-N20263 (e-PCR)
- UniSTS:28944

RH119376 (e-PCR)
- UniSTS:132916

G09481 (e-PCR)
- UniSTS:77878

SHGC-79102 (e-PCR)
- UniSTS:95807

D4S785 (e-PCR)
- UniSTS:72258

SHGC-50682 (e-PCR)
- UniSTS:53333

SHGC-37426 (e-PCR)
- UniSTS:81776

SHGC-50498 (e-PCR)
- UniSTS:35460

RH103371 (e-PCR)
- UniSTS:92551

D4S2356 (e-PCR)
- UniSTS:81312

D4S2409 (e-PCR), detects polymorphism
- UniSTS:10945

SHGC-58303 (e-PCR)
- UniSTS:78027

D4S2340 (e-PCR)
- UniSTS:50132

SHGC-89267 (e-PCR)
- UniSTS:104920

SHGC-112308 (e-PCR)
- UniSTS:173797

SHGC-50463 (e-PCR)
- UniSTS:32749

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Rac protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ruffle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in wound healing, spreading of epidermal cells	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: rho GTPase-activating protein 24

Names: RAC1- and CDC42-specific GTPase-activating protein of 72 kDa; filamin-A-associated RhoGAP; rhoGAP of 73 kDa; sarcoma antigen NY-SAR-88

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.

Genomic

NG_051627.1 RefSeqGene

Range

5020..532536

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001025616.3 → NP_001020787.2 rho GTPase-activating protein 24 isoform 1

See identical proteins and their annotated locations for NP_001020787.2

Status: REVIEWED

Description

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

Source sequence(s)

AC104059, AK091196, BC098580, DA815489, DB109452

Consensus CDS

CCDS34025.1

UniProtKB/Swiss-Prot

Q4KMG1, Q6ZNV3, Q86TI5, Q86WE4, Q8N264, Q9H0T6

UniProtKB/TrEMBL

A0A2X0SFU2

Related

ENSP00000378611.1, ENST00000395184.6

Conserved Domains (4) summary

cd04390
Location:131 → 329

RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...

cd13379
Location:18 → 131

PH_RhoGap24; Rho GTPase activating protein 24 Pleckstrin homology (PH) domain

pfam00169
Location:21 → 124

PH; PH domain

pfam08614
Location:609 → 723

ATG16; Autophagy protein 16 (ATG16)
NM_001042669.2 → NP_001036134.1 rho GTPase-activating protein 24 isoform 3

See identical proteins and their annotated locations for NP_001036134.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC104059, BC098580

Consensus CDS

CCDS43246.1

UniProtKB/TrEMBL

B3KUX7

Related

ENSP00000378610.2, ENST00000395183.6

Conserved Domains (3) summary

cd04390
Location:36 → 234

RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...

cl17171
Location:1 → 36

PH-like; Pleckstrin homology-like domain

cl25732
Location:515 → 629

SMC_N; RecF/RecN/SMC N terminal domain
NM_001287805.2 → NP_001274734.1 rho GTPase-activating protein 24 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC104059, AK307423

UniProtKB/TrEMBL

D6RCP5

Related

ENSP00000425589.1, ENST00000514229.5

Conserved Domains (4) summary

cd04390
Location:46 → 244

RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...

pfam00169
Location:14 → 39

PH; PH domain

pfam08614
Location:524 → 638

ATG16; Autophagy protein 16 (ATG16)

cl17171
Location:3 → 46

PH-like; Pleckstrin homology-like domain
NM_001346093.2 → NP_001333022.1 rho GTPase-activating protein 24 isoform 5

Status: REVIEWED

Source sequence(s)

AC097108, AC098870, AC104059, AC139716

UniProtKB/TrEMBL

B3KUX7
NM_031305.3 → NP_112595.2 rho GTPase-activating protein 24 isoform 2

See identical proteins and their annotated locations for NP_112595.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC098870, AC104059, BC098580

Consensus CDS

CCDS3611.1

UniProtKB/TrEMBL

B3KUX7

Related

ENSP00000264343.4, ENST00000264343.4

Conserved Domains (2) summary

cd04390
Location:38 → 236

RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...

pfam08614
Location:516 → 630

ATG16; Autophagy protein 16 (ATG16)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

85475150..86002666

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024454238.2 → XP_024310006.1 rho GTPase-activating protein 24 isoform X1

UniProtKB/TrEMBL

B3KUX7

Conserved Domains (3) summary

cd04390
Location:36 → 234

RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...

cl17171
Location:1 → 36

PH-like; Pleckstrin homology-like domain

cl25732
Location:515 → 629

SMC_N; RecF/RecN/SMC N terminal domain
XM_047416235.1 → XP_047272191.1 rho GTPase-activating protein 24 isoform X1
XM_011532300.3 → XP_011530602.1 rho GTPase-activating protein 24 isoform X1

See identical proteins and their annotated locations for XP_011530602.1

UniProtKB/TrEMBL

B3KUX7

Conserved Domains (3) summary

cd04390
Location:36 → 234

RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...

cl17171
Location:1 → 36

PH-like; Pleckstrin homology-like domain

cl25732
Location:515 → 629

SMC_N; RecF/RecN/SMC N terminal domain