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Aliases for ARHGAP44 Gene

Aliases for ARHGAP44 Gene

  • Rho GTPase Activating Protein 44 2 3 5
  • RhoGAP Interacting With CIP4 Homologs Protein 2 3 4
  • Rho-Type GTPase-Activating Protein RICH2 3 4
  • NPC-A-10 3 4
  • RICH2 3 4
  • Rho GTPase-Activating Protein RICH2 3
  • Rho GTPase-Activating Protein 44 3
  • KIAA0672 4
  • RICH-2 4

External Ids for ARHGAP44 Gene

Previous GeneCards Identifiers for ARHGAP44 Gene

  • GC17P012692
  • GC17P012588

Summaries for ARHGAP44 Gene

GeneCards Summary for ARHGAP44 Gene

ARHGAP44 (Rho GTPase Activating Protein 44) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phospholipid binding. An important paralog of this gene is ARHGAP17.

UniProtKB/Swiss-Prot for ARHGAP44 Gene

  • GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation.

Additional gene information for ARHGAP44 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP44 Gene

Genomics for ARHGAP44 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP44 Gene

Promoters and enhancers for ARHGAP44 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I012788 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.2 247 1.7 RB1 KLF17 ZNF76 SIN3A ZNF2 KLF5 ZNF48 ETS1 ZNF335 ZNF366 ARHGAP44 LOC100128006
GH17I012791 Enhancer 0.4 Ensembl 550.8 +1.6 1589 0.2 KLF1 EBF1 ZNF18 ARHGAP44 LOC100128006 GC17P012798
GH17I012741 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.4 -47.0 -47036 1 CTCF NFIB BACH1 BATF IRF4 RAD21 ZNF143 SMC3 RUNX3 ZNF654 LOC101928418 ARHGAP44 GC17P012738 PIR47070 MYOCD
GH17I013002 Enhancer 0.6 ENCODE 10.4 +213.6 213591 0.7 CTCF ZNF654 TRIM22 ZNF76 RAD21 POLR2A GATAD1 IKZF1 ZNF143 SMC3 ELAC2 ARHGAP44 PIR40121
GH17I012743 Enhancer 0.4 ENCODE dbSUPER 10.4 -46.3 -46253 0.2 LOC101928418 ARHGAP44 GC17P012738 PIR47070 MYOCD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGAP44 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ARHGAP44 Gene

Genomic Locations for ARHGAP44 Gene
chr17:12,789,512-12,991,643
(GRCh38/hg38)
Size:
202,132 bases
Orientation:
Plus strand
chr17:12,692,829-12,894,960
(GRCh37/hg19)

Genomic View for ARHGAP44 Gene

Genes around ARHGAP44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP44 Gene

Proteins for ARHGAP44 Gene

  • Protein details for ARHGAP44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q17R89-RHG44_HUMAN
    Recommended name:
    Rho GTPase-activating protein 44
    Protein Accession:
    Q17R89
    Secondary Accessions:
    • A6NCP5
    • A8MQB2
    • O75160
    • Q7Z5Z7
    • Q9Y4Q4

    Protein attributes for ARHGAP44 Gene

    Size:
    818 amino acids
    Molecular mass:
    89247 Da
    Quaternary structure:
    • Interacts with BST2 (via cytoplasmic domain). Interacts (probably via PDZ-binding motif) with SHANK3 (via PDZ domain); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis.
    SequenceCaution:
    • Sequence=AAP73805.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP73805.1; Type=Frameshift; Positions=385; Evidence={ECO:0000305}; Sequence=BAA31647.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGAP44 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP44 Gene

Post-translational modifications for ARHGAP44 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ARHGAP44 Gene

Domains & Families for ARHGAP44 Gene

Gene Families for ARHGAP44 Gene

Protein Domains for ARHGAP44 Gene

Graphical View of Domain Structure for InterPro Entry

Q17R89

UniProtKB/Swiss-Prot:

RHG44_HUMAN :
  • Rho-GAP domain is required to promote GRIA1 exocytosis from recycling endosomes. Rho-GAP and BAR domains are necessary for the control of long-term potentiation in hippocampal neurons (By similarity).
Domain:
  • Rho-GAP domain is required to promote GRIA1 exocytosis from recycling endosomes. Rho-GAP and BAR domains are necessary for the control of long-term potentiation in hippocampal neurons (By similarity).
genes like me logo Genes that share domains with ARHGAP44: view

Function for ARHGAP44 Gene

Molecular function for ARHGAP44 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation.

Phenotypes From GWAS Catalog for ARHGAP44 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 19273615
GO:0005543 phospholipid binding IDA 22750946
GO:0048365 Rac GTPase binding IEA --
genes like me logo Genes that share ontologies with ARHGAP44: view
genes like me logo Genes that share phenotypes with ARHGAP44: view

Animal Model Products

CRISPR Products

miRNA for ARHGAP44 Gene

miRTarBase miRNAs that target ARHGAP44

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP44 Gene

Localization for ARHGAP44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP44 Gene

Cell projection, dendritic spine. Recycling endosome. Cell junction, synapse. Note=In CA1 hippocampal synapses, detected at both presynaptic and postsynaptic sites. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGAP44 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 3
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ARHGAP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0030054 cell junction IEA --
GO:0031256 leading edge membrane IDA 22750946
genes like me logo Genes that share ontologies with ARHGAP44: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGAP44 Gene

Pathways & Interactions for ARHGAP44 Gene

genes like me logo Genes that share pathways with ARHGAP44: view

Pathways by source for ARHGAP44 Gene

1 GeneTex pathway for ARHGAP44 Gene
3 Reactome pathways for ARHGAP44 Gene

Gene Ontology (GO) - Biological Process for ARHGAP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0007165 signal transduction IEA --
GO:0032956 regulation of actin cytoskeleton organization IEA --
GO:0035021 negative regulation of Rac protein signal transduction IEA --
GO:0043087 regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGAP44: view

No data available for SIGNOR curated interactions for ARHGAP44 Gene

Drugs & Compounds for ARHGAP44 Gene

No Compound Related Data Available

Transcripts for ARHGAP44 Gene

Unigene Clusters for ARHGAP44 Gene

Rho GTPase activating protein 44:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP44 Gene

No ASD Table

Relevant External Links for ARHGAP44 Gene

GeneLoc Exon Structure for
ARHGAP44
ECgene alternative splicing isoforms for
ARHGAP44

Expression for ARHGAP44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGAP44 Gene

Protein differential expression in normal tissues from HIPED for ARHGAP44 Gene

This gene is overexpressed in Frontal cortex (42.3), Fetal Brain (7.1), and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP44 Gene



Protein tissue co-expression partners for ARHGAP44 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP44 Gene:

ARHGAP44

SOURCE GeneReport for Unigene cluster for ARHGAP44 Gene:

Hs.499758

mRNA Expression by UniProt/SwissProt for ARHGAP44 Gene:

Q17R89-RHG44_HUMAN
Tissue specificity: Highly expressed in brain. Expressed at weak level in other tissues.

Evidence on tissue expression from TISSUES for ARHGAP44 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ARHGAP44: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP44 Gene

Orthologs for ARHGAP44 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP44 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP44 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia ARHGAP44 33 34
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap44 33
  • 88.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP44 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgap44 33 16 34
  • 87.97 (n)
cow
(Bos Taurus)
Mammalia ARHGAP44 33 34
  • 87.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP44 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP44 33 34
  • 78.28 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGAP44 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497272 33
  • 70.1 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgap44 34
  • 72 (a)
OneToMany
si:ch211-114m9.1 33
  • 71.51 (n)
ARHGAP44 (1 of 2) 34
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP92B 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y34B4A.8 34
  • 25 (a)
OneToMany
Species where no ortholog for ARHGAP44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGAP44 Gene

ENSEMBL:
Gene Tree for ARHGAP44 (if available)
TreeFam:
Gene Tree for ARHGAP44 (if available)

Paralogs for ARHGAP44 Gene

genes like me logo Genes that share paralogs with ARHGAP44: view

Variants for ARHGAP44 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP44 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000007281 -- 12,889,556(+) C/T intron_variant
rs1000012295 -- 12,809,001(+) G/A intron_variant
rs1000014898 -- 12,926,819(+) A/G intron_variant
rs1000042668 -- 12,849,372(+) G/A intron_variant
rs1000043624 -- 12,809,377(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP44 Gene

Variant ID Type Subtype PubMed ID
nsv833372 CNV loss 17160897
nsv472586 CNV novel sequence insertion 20440878
nsv472093 CNV novel sequence insertion 20440878
nsv1142896 CNV tandem duplication 24896259
nsv112059 CNV deletion 16902084
nsv1060977 CNV gain 25217958
esv3639982 CNV loss 21293372
esv3639978 CNV loss 21293372
esv3582531 CNV loss 25503493
esv3422217 CNV insertion 20981092
esv34095 CNV loss 18971310
esv3393972 CNV insertion 20981092
esv3306471 CNV mobile element insertion 20981092
esv2715666 CNV deletion 23290073
esv2715665 CNV deletion 23290073
esv2715664 CNV deletion 23290073
dgv888e212 CNV loss 25503493

Variation tolerance for ARHGAP44 Gene

Residual Variation Intolerance Score: 3.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP44 Gene

Disorders for ARHGAP44 Gene

Additional Disease Information for ARHGAP44

No disorders were found for ARHGAP44 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGAP44 Gene

Publications for ARHGAP44 Gene

  1. A CD317/tetherin-RICH2 complex plays a critical role in the organization of the subapical actin cytoskeleton in polarized epithelial cells. (PMID: 19273615) Rollason R … Banting G (The Journal of cell biology 2009) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1. (PMID: 11431473) Richnau N … Aspenström P (The Journal of biological chemistry 2001) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58

Products for ARHGAP44 Gene

Sources for ARHGAP44 Gene

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