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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
  • 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 Rho GTPases and Signaling by GPCR. GO annotations related to this gene include GTPase activator activity and phospholipid binding. An important paralog of this gene is SRGAP3.

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.

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

Genomics for ARHGAP44 Gene

Regulatory Elements for ARHGAP44 Gene

Enhancers for ARHGAP44 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARHGAP44 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGAP44 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARHGAP44 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARHGAP44 Gene

Chromosome:
17
Start:
12,789,512 bp from pter
End:
12,991,643 bp from pter
Size:
202,132 bases
Orientation:
Plus strand

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

Proteomics data for ARHGAP44 Gene at MOPED

Post-translational modifications for ARHGAP44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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).
  • Contains 1 BAR domain.
  • Contains 1 Rho-GAP domain.
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.

Gene Ontology (GO) - Molecular Function for ARHGAP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005543 phospholipid binding IDA 22750946
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

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
Jensen Localization Image for ARHGAP44 Gene COMPARTMENTS Subcellular localization image for ARHGAP44 gene
Compartment Confidence
cytosol 5
plasma membrane 5
endosome 3
mitochondrion 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components 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:0051056 regulation of small GTPase mediated signal transduction TAS --
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:

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 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, PaxDb, MOPED, and MaxQB for ARHGAP44 Gene



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.
genes like me logo Genes that share expression patterns with ARHGAP44: view

Protein tissue co-expression partners for ARHGAP44 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ARHGAP44 35
  • 87.15 (n)
  • 93.23 (a)
ARHGAP44 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP44 35
  • 89.33 (n)
  • 94.21 (a)
ARHGAP44 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgap44 35
  • 87.97 (n)
  • 94.54 (a)
Arhgap44 16
Arhgap44 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP44 35
  • 99.51 (n)
  • 99.63 (a)
ARHGAP44 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgap44 35
  • 88.55 (n)
  • 94.83 (a)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP44 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP44 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP44 35
  • 78.28 (n)
  • 83.58 (a)
ARHGAP44 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP44 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497272 35
  • 70.1 (n)
  • 77.9 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-114m9.1 35
  • 71.51 (n)
  • 76.09 (a)
arhgap44 36
  • 72 (a)
OneToMany
ARHGAP44 (1 of 2) 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP92B 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y34B4A.8 36
  • 25 (a)
OneToMany
Species with no ortholog for ARHGAP44:
  • 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 Sequence Context AA Info Type
rs3213688 - 12,958,761(-) GTTCA(C/T)GTGTA reference, missense
rs966110 -- 12,965,969(-) CACTG(G/T)GTTGC intron-variant
rs1003940 -- 12,899,590(-) CCTTT(A/T)CATTT intron-variant
rs1003941 -- 12,899,474(-) GTCAC(A/G)TTTCC intron-variant
rs720048 -- 12,947,379(+) CAGGG(A/G)CATCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv34095 CNV Loss 18971310
nsv833372 CNV Loss 17160897
esv270747 CNV Insertion 20981092
esv271684 CNV Insertion 20981092
nsv112059 CNV Loss 16902084
esv2715664 CNV Deletion 23290073
esv2715665 CNV Deletion 23290073
esv2715666 CNV Deletion 23290073

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)

Relevant External Links for ARHGAP44 Gene

HapMap Linkage Disequilibrium report
ARHGAP44

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

Disorders for ARHGAP44 Gene

Relevant External Links for ARHGAP44

Genetic Association Database (GAD)
ARHGAP44
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Cell Biol. 2009) 2 3 4 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. (PMID: 23648065) Low S.K. … Nakamura Y. (Cancer Sci. 2013) 3
  5. The genetic architecture of economic and political preferences. (PMID: 22566634) Benjamin D.J. … Visscher P.M. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3

Products for ARHGAP44 Gene

Sources for ARHGAP44 Gene

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