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ARHGAP44 (Rho GTPase activating protein 44)

Identity

Alias (NCBI)NPC-A-10
RICH2
HGNC (Hugo) ARHGAP44
HGNC Alias symbKIAA0672
RICH-2
RICH2
LocusID (NCBI) 9912
Atlas_Id 57539
Location 17p12  [Link to chromosome band 17p12]
Location_base_pair Starts at 12789498 and ends at 12991643 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARHGAP44 (17p12) / DNAH2 (17p13.1)BNC2 (9p22.3) / ARHGAP44 (17p12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ARHGAP44   29096
Cards
Entrez_Gene (NCBI)ARHGAP44    Rho GTPase activating protein 44
AliasesNPC-A-10; RICH2
GeneCards (Weizmann)ARHGAP44
Ensembl hg19 (Hinxton)ENSG00000006740 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006740 [Gene_View]  ENSG00000006740 [Sequence]  chr17:12789498-12991643 [Contig_View]  ARHGAP44 [Vega]
ICGC DataPortalENSG00000006740
TCGA cBioPortalARHGAP44
AceView (NCBI)ARHGAP44
Genatlas (Paris)ARHGAP44
SOURCE (Princeton)ARHGAP44
Genetics Home Reference (NIH)ARHGAP44
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGAP44  -     chr17:12789498-12991643 +  17p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGAP44  -     17p12   [Description]    (hg19-Feb_2009)
GoldenPathARHGAP44 - 17p12 [CytoView hg19]  ARHGAP44 - 17p12 [CytoView hg38]
ImmunoBaseENSG00000006740
Genome Data Viewer NCBIARHGAP44 [Mapview hg19]  
OMIM617716   
Gene and transcription
Genbank (Entrez)AB014572 AK023797 AK294538 AL080100 AL096728
RefSeq transcript (Entrez)NM_001321164 NM_001321166 NM_001321167 NM_001321168 NM_014859
Consensus coding sequences : CCDS (NCBI)ARHGAP44
Gene ExpressionARHGAP44 [ NCBI-GEO ]   ARHGAP44 [ EBI - ARRAY_EXPRESS ]   ARHGAP44 [ SEEK ]   ARHGAP44 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGAP44 [ Firebrowse - Broad ]
GenevisibleExpression of ARHGAP44 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9912
GTEX Portal (Tissue expression)ARHGAP44
Human Protein AtlasENSG00000006740-ARHGAP44 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ17R89   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ17R89  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ17R89
PhosPhoSitePlusQ17R89
Domaine pattern : Prosite (Expaxy)BAR (PS51021)    RHOGAP (PS50238)   
Domains : Interpro (EBI)AH/BAR_dom_sf    BAR_dom    Rho_GTPase_activation_prot    RhoGAP_dom   
Domain families : Pfam (Sanger)BAR (PF03114)    RhoGAP (PF00620)   
Domain families : Pfam (NCBI)pfam03114    pfam00620   
Domain families : Smart (EMBL)BAR (SM00721)  RhoGAP (SM00324)  
Conserved Domain (NCBI)ARHGAP44
SuperfamilyQ17R89
AlphaFold pdb e-kbQ17R89   
Human Protein Atlas [tissue]ENSG00000006740-ARHGAP44 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q17R89
IntAct (EBI)Q17R89
BioGRIDARHGAP44
STRING (EMBL)ARHGAP44
ZODIACARHGAP44
Ontologies - Pathways
QuickGOQ17R89
Ontology : AmiGOGTPase activator activity  GTPase activator activity  protein binding  phospholipid binding  intracellular anatomical structure  cytosol  exocytosis  signal transduction  postsynaptic density  dendrite  leading edge membrane  leading edge membrane  small GTPase binding  regulation of actin cytoskeleton organization  regulation of Rac protein signal transduction  negative regulation of Rac protein signal transduction  regulation of GTPase activity  dendritic spine  presynaptic active zone  regulation of small GTPase mediated signal transduction  negative regulation of filopodium assembly  recycling endosome  regulation of dendritic spine morphogenesis  modification of dendritic spine  neurotransmitter receptor transport, endosome to postsynaptic membrane  glutamatergic synapse  regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  protein binding  phospholipid binding  intracellular anatomical structure  cytosol  exocytosis  signal transduction  postsynaptic density  dendrite  leading edge membrane  leading edge membrane  small GTPase binding  regulation of actin cytoskeleton organization  regulation of Rac protein signal transduction  negative regulation of Rac protein signal transduction  regulation of GTPase activity  dendritic spine  presynaptic active zone  regulation of small GTPase mediated signal transduction  negative regulation of filopodium assembly  recycling endosome  regulation of dendritic spine morphogenesis  modification of dendritic spine  neurotransmitter receptor transport, endosome to postsynaptic membrane  glutamatergic synapse  regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane  
NDEx NetworkARHGAP44
Atlas of Cancer Signalling NetworkARHGAP44
Wikipedia pathwaysARHGAP44
Orthology - Evolution
OrthoDB9912
GeneTree (enSembl)ENSG00000006740
Phylogenetic Trees/Animal Genes : TreeFamARHGAP44
Homologs : HomoloGeneARHGAP44
Homology/Alignments : Family Browser (UCSC)ARHGAP44
Gene fusions - Rearrangements
Fusion : QuiverARHGAP44
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGAP44 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGAP44
dbVarARHGAP44
ClinVarARHGAP44
MonarchARHGAP44
1000_GenomesARHGAP44 
Exome Variant ServerARHGAP44
GNOMAD BrowserENSG00000006740
Varsome BrowserARHGAP44
ACMGARHGAP44 variants
VarityQ17R89
Genomic Variants (DGV)ARHGAP44 [DGVbeta]
DECIPHERARHGAP44 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGAP44 
Mutations
ICGC Data PortalARHGAP44 
TCGA Data PortalARHGAP44 
Broad Tumor PortalARHGAP44
OASIS PortalARHGAP44 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGAP44  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DARHGAP44
Mutations and Diseases : HGMDARHGAP44
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaARHGAP44
DgiDB (Drug Gene Interaction Database)ARHGAP44
DoCM (Curated mutations)ARHGAP44
CIViC (Clinical Interpretations of Variants in Cancer)ARHGAP44
Cancer3DARHGAP44
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617716   
Orphanet
DisGeNETARHGAP44
MedgenARHGAP44
Genetic Testing Registry ARHGAP44
NextProtQ17R89 [Medical]
GENETestsARHGAP44
Target ValidationARHGAP44
Huge Navigator ARHGAP44 [HugePedia]
ClinGenARHGAP44
Clinical trials, drugs, therapy
MyCancerGenomeARHGAP44
Protein Interactions : CTDARHGAP44
Pharm GKB GenePA166048987
PharosQ17R89
Clinical trialARHGAP44
Miscellaneous
canSAR (ICR)ARHGAP44
HarmonizomeARHGAP44
DataMed IndexARHGAP44
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXARHGAP44
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:59:59 CEST 2021

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