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ARHGAP44 (Rho GTPase activating protein 44)

Identity

Alias_symbol (synonym)KIAA0672
RICH-2
RICH2
Other aliasNPC-A-10
HGNC (Hugo) ARHGAP44
LocusID (NCBI) 9912
Atlas_Id 60473
Location 17p12  [Link to chromosome band 17p12]
Location_base_pair Starts at 12789512 and ends at 12991644 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  9912  Rho GTPase activating protein 44
AliasesNPC-A-10; RICH2
GeneCards (Weizmann)ARHGAP44
Ensembl hg19 (Hinxton)ENSG00000006740 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006740 [Gene_View]  chr17:12789512-12991644 [Contig_View]  ARHGAP44 [Vega]
ICGC DataPortalENSG00000006740
TCGA cBioPortalARHGAP44
AceView (NCBI)ARHGAP44
Genatlas (Paris)ARHGAP44
WikiGenes9912
SOURCE (Princeton)ARHGAP44
Genetics Home Reference (NIH)ARHGAP44
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGAP44  -     chr17:12789512-12991644 +  17p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGAP44  -     17p12   [Description]    (hg19-Feb_2009)
EnsemblARHGAP44 - 17p12 [CytoView hg19]  ARHGAP44 - 17p12 [CytoView hg38]
Mapping of homologs : NCBIARHGAP44 [Mapview hg19]  ARHGAP44 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB014572 AK023797 AK294538 AL080100 AL096728
RefSeq transcript (Entrez)NM_001321164 NM_001321166 NM_001321167 NM_001321168 NM_014859
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGAP44
Cluster EST : UnigeneHs.499758 [ NCBI ]
CGAP (NCI)Hs.499758
Alternative Splicing GalleryENSG00000006740
Gene ExpressionARHGAP44 [ NCBI-GEO ]   ARHGAP44 [ EBI - ARRAY_EXPRESS ]   ARHGAP44 [ SEEK ]   ARHGAP44 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGAP44 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9912
GTEX Portal (Tissue expression)ARHGAP44
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
Splice isoforms : SwissVarQ17R89
PhosPhoSitePlusQ17R89
Domaine pattern : Prosite (Expaxy)BAR (PS51021)    RHOGAP (PS50238)   
Domains : Interpro (EBI)AH/BAR-dom    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
DMDM Disease mutations9912
Blocks (Seattle)ARHGAP44
SuperfamilyQ17R89
Human Protein AtlasENSG00000006740
Peptide AtlasQ17R89
HPRD13810
IPIIPI00746756   IPI01013043   IPI01012209   IPI01012586   IPI00976953   IPI00791844   
Protein Interaction databases
DIP (DOE-UCLA)Q17R89
IntAct (EBI)Q17R89
FunCoupENSG00000006740
BioGRIDARHGAP44
STRING (EMBL)ARHGAP44
ZODIACARHGAP44
Ontologies - Pathways
QuickGOQ17R89
Ontology : AmiGOGTPase activator activity  protein binding  phospholipid binding  cytosol  exocytosis  signal transduction  cell junction  leading edge membrane  regulation of actin cytoskeleton organization  negative regulation of Rac protein signal transduction  dendritic spine  positive regulation of GTPase activity  Rac GTPase binding  regulation of small GTPase mediated signal transduction  recycling endosome  regulation of dendritic spine morphogenesis  modification of dendritic spine  neurotransmitter receptor transport, endosome to postsynaptic membrane  
Ontology : EGO-EBIGTPase activator activity  protein binding  phospholipid binding  cytosol  exocytosis  signal transduction  cell junction  leading edge membrane  regulation of actin cytoskeleton organization  negative regulation of Rac protein signal transduction  dendritic spine  positive regulation of GTPase activity  Rac GTPase binding  regulation of small GTPase mediated signal transduction  recycling endosome  regulation of dendritic spine morphogenesis  modification of dendritic spine  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
HOVERGENQ17R89
HOGENOMQ17R89
Homologs : HomoloGeneARHGAP44
Homology/Alignments : Family Browser (UCSC)ARHGAP44
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGAP44 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGAP44
dbVarARHGAP44
ClinVarARHGAP44
1000_GenomesARHGAP44 
Exome Variant ServerARHGAP44
ExAC (Exome Aggregation Consortium)ARHGAP44 (select the gene name)
Genetic variants : HAPMAP9912
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]  
Mutations and Diseases : HGMDARHGAP44
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ARHGAP44
DgiDB (Drug Gene Interaction Database)ARHGAP44
DoCM (Curated mutations)ARHGAP44 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGAP44 (select a term)
intoGenARHGAP44
Cancer3DARHGAP44(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenARHGAP44
Genetic Testing Registry ARHGAP44
NextProtQ17R89 [Medical]
TSGene9912
GENETestsARHGAP44
Target ValidationARHGAP44
Huge Navigator ARHGAP44 [HugePedia]
snp3D : Map Gene to Disease9912
BioCentury BCIQARHGAP44
ClinGenARHGAP44
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9912
Chemical/Pharm GKB GenePA166048987
Clinical trialARHGAP44
Miscellaneous
canSAR (ICR)ARHGAP44 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGAP44
EVEXARHGAP44
GoPubMedARHGAP44
iHOPARHGAP44
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:01:41 CEST 2017

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