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ARHGAP44 Rho GTPase activating protein 44 [ Homo sapiens (human) ]

Gene ID: 9912, updated on 27-Nov-2024

Summary

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Official Symbol
ARHGAP44provided by HGNC
Official Full Name
Rho GTPase activating protein 44provided by HGNC
Primary source
HGNC:HGNC:29096
See related
Ensembl:ENSG00000006740 MIM:617716; AllianceGenome:HGNC:29096
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
Also known as
RICH2; NPC-A-10
Summary
Enables phospholipid binding activity. Predicted to be involved in several processes, including modification of dendritic spine; negative regulation of Rac protein signal transduction; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. Implicated in acquired immunodeficiency syndrome and skin melanoma. Biomarker of hepatocellular carcinoma and lung carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in brain (RPKM 18.3), colon (RPKM 17.1) and 20 other tissues See more
Orthologs
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Genomic context

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See ARHGAP44 in Genome Data Viewer
Location:
17p12
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (12789498..12991643)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (12696985..12899110)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (12692815..12894960)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 670 Neighboring gene uncharacterized LOC105371540 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:12533784-12534983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12540895-12541394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12591458-12591958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12591959-12592459 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46971 Neighboring gene MYOCD antisense RNA 1 Neighboring gene myocardin Neighboring gene ARHGAP44 and MYOCD antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11739 Neighboring gene microRNA 1269b Neighboring gene Sharpr-MPRA regulatory region 8598 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12920660-12921160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8207 Neighboring gene elaC ribonuclease Z 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:12999283-13000482 Neighboring gene VISTA enhancer hs1497 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:13044042-13044662 Neighboring gene uncharacterized LOC124904097 Neighboring gene long intergenic non-protein coding RNA 2093

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy. Zhang J, et al. Neurobiol Dis, 2023 Nov. PMID 37926169
  2. CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection. Cheng J, et al. Mol Immunol, 2021 Jan. PMID 33223223
  3. Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS. Le Clerc S, et al. J Acquir Immune Defic Syndr, 2011 Mar 1. PMID 21107268, Free PMC Article
  4. RICH2, a potential tumor suppressor in hepatocellular carcinoma. Zhang J, et al. Front Biosci (Landmark Ed), 2019 Jun 1. PMID 31136984
  5. RICH2 is implicated in viraemic control of HIV-1 in black South African individuals. Paximadis M, et al. Infect Genet Evol, 2017 Apr. PMID 28069446, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells.
    Title: ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells.
  2. RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy.
    Title: RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy.
  3. CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection.
    Title: CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection.
  4. Rho GTPase-activating protein RICH2 (RICH2) is downregulated in hepatocellular carcinoma (HCC).
    Title: RICH2, a potential tumor suppressor in hepatocellular carcinoma.
  5. Rho GTPase activating protein 44 (ARHGAP44) expression is lower in lung carcinoma compared with normal tissues. The GTP hydrolysis activity on cell division cycle 42 (Cdc42) and the expression level of ARHGAP44 are negatively correlated with cell migration and invasion.
    Title: Mutant p53 promotes cell spreading and migration via ARHGAP44.
  6. RICH2 is implicated in viremic control of HIV-1 in black South African individuals.
    Title: RICH2 is implicated in viraemic control of HIV-1 in black South African individuals.
  7. Besides the already known chromosome 6 associations, the analysis of low-frequency single nucleotide polymorphisms brought up a new association in the RICH2 gene for progression to AIDS.
    Title: Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS.
  8. Knocking down expression of RICH 2 causes loss of the apical actin network and apical microvilli, an increase in actin bundles at the basal surface, and a reduction in cell height. (RICH 2 protein)
    Title: A CD317/tetherin-RICH2 complex plays a critical role in the organization of the subapical actin cytoskeleton in polarized epithelial cells.
  9. Demonstrates that the RhoGAP domains of RICH-1 and RICH-2 can catalyze GTP hydrolysis of both Rac1 and Cdc42, but not of RhoA.
    Title: Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1.
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

EBI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
EBI GWAS Catalog
The genetic architecture of economic and political preferences.
EBI GWAS Catalog

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

Homology

Clone Names

  • KIAA0672

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables GTPase activator activity TAS
Traceable Author Statement
more info
  
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in modification of dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in modulation of chemical synaptic transmission 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 filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of dendritic spine morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
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
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in leading edge membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in leading edge membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in recycling endosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
rho GTPase-activating protein 44
Names
Rho-type GTPase-activating protein RICH2
RhoGAP interacting with CIP4 homologs protein 2
rho GTPase-activating protein RICH2

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)

  1. NM_001321164.2 → NP_001308093.1  rho GTPase-activating protein 44 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143855, BC143856, BM993036, DB461035, HY144351
    UniProtKB/TrEMBL
    A0A2X0U4K4
    Conserved Domains (3) summary
    cd07619
    Location:13 → 260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    pfam15304
    Location:553 → 653
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl02570
    Location:249 → 449
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  2. NM_001321166.2 → NP_001308095.1  rho GTPase-activating protein 44 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143853, BM993036, DB461035, HY144351
    Consensus CDS
    CCDS82077.1
    UniProtKB/TrEMBL
    A0A2X0U4K4
    Related
    ENSP00000342566.3, ENST00000340825.7
    Conserved Domains (3) summary
    cd07619
    Location:13 → 260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    pfam15304
    Location:553 → 653
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl02570
    Location:249 → 449
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  3. NM_001321167.2 → NP_001308096.1  rho GTPase-activating protein 44 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143852, BM993036, DB461035, HY144351
    Consensus CDS
    CCDS82076.1
    UniProtKB/TrEMBL
    A0A2X0U4K4, E7ERK8
    Related
    ENSP00000262444.9, ENST00000262444.13
    Conserved Domains (3) summary
    cd07619
    Location:13 → 260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    pfam15304
    Location:559 → 659
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl02570
    Location:249 → 449
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  4. NM_001321168.2 → NP_001308097.1  rho GTPase-activating protein 44 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC070074, BC143853, BM993036, DB461035, HY144351
    UniProtKB/Swiss-Prot
    Q17R89
    UniProtKB/TrEMBL
    Q69Z00
    Conserved Domains (3) summary
    cd04386
    Location:49 → 249
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
    pfam15304
    Location:353 → 453
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl12013
    Location:1 → 60
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  5. NM_014859.6 → NP_055674.4  rho GTPase-activating protein 44 isoform 1

    See identical proteins and their annotated locations for NP_055674.4

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC117416, BM993036, DA403021, DB461035
    Consensus CDS
    CCDS45616.1
    UniProtKB/Swiss-Prot
    A6NCP5, A8MQB2, O75160, Q17R89, Q7Z5Z7, Q9Y4Q4
    UniProtKB/TrEMBL
    A0A2X0U4K4
    Related
    ENSP00000368994.5, ENST00000379672.10
    Conserved Domains (3) summary
    cd07619
    Location:13 → 260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    cl02570
    Location:249 → 449
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    cl25751
    Location:558 → 674
    DUF4045; Domain of unknown function (DUF4045)

RNA

  1. NR_135569.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143855, BM993036, DB461035, HY144351
    Related
    ENST00000580768.5

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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    12789498..12991643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437221.1 → XP_047293177.1  rho GTPase-activating protein 44 isoform X2

  2. XM_005256891.3 → XP_005256948.1  rho GTPase-activating protein 44 isoform X1

    UniProtKB/TrEMBL
    A0A2X0U4K4
    Related
    ENSP00000437542.2, ENST00000544416.6
    Conserved Domains (2) summary
    cl02570
    Location:249 → 449
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    cl12013
    Location:13 → 260
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  3. XM_047437223.1 → XP_047293179.1  rho GTPase-activating protein 44 isoform X4

  4. XM_047437222.1 → XP_047293178.1  rho GTPase-activating protein 44 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    12696985..12899110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318088.1 → XP_054174063.1  rho GTPase-activating protein 44 isoform X2

  2. XM_054318087.1 → XP_054174062.1  rho GTPase-activating protein 44 isoform X1

  3. XM_054318090.1 → XP_054174065.1  rho GTPase-activating protein 44 isoform X4

  4. XM_054318086.1 → XP_054174061.1  rho GTPase-activating protein 44 isoform X5

    UniProtKB/TrEMBL
    E7ERK8

  5. XM_054318089.1 → XP_054174064.1  rho GTPase-activating protein 44 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q17R89.1 GenPept UniProtKB/Swiss-Prot:Q17R89

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