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
  • Rho GTPase-Activating Protein 44 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. Diseases associated with ARHGAP44 include Deafness, Autosomal Recessive 101 and Hyperuricemic Nephropathy, Familial Juvenile, 1. 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 Summary 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. Acts as a GAP at least for CDC42 and RAC1 (PubMed:11431473). In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin-patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation (By similarity). In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation (By similarity).

Additional gene information for ARHGAP44 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH17J012788 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 555 2.3 ZNF217 EP300 NRF1 SIX5 ZFX ZNF10 ZIC2 REST ZBTB26 SAP30 ARHGAP44 LOC100128006 ENSG00000265489
GH17J012756 Promoter 0.3 EPDnew 511.3 -33.0 -32997 0.1 ARHGAP44 MYOCD-AS1 piR-53071 RF00017-2287 MYOCD
GH17J013538 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 +751.4 751365 5.1 JUND FOS AFF1 MYC CTBP1 TAF9B HDAC3 NCOR1 MBD2 ZNF316 ARHGAP44 HS3ST3A1 MIR548H3 HSALNG0114674
GH17J012741 Enhancer 1 Ensembl ENCODE dbSUPER 10.5 -47.1 -47111 1.2 CTCF REST RAD21 TRIM22 SMC3 TCF12 NFIC CBFB ZNF184 YY1 MYOCD-AS1 ARHGAP44 RF00017-2287 NONHSAG020852.2 MYOCD
GH17J012744 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 10.7 -45.1 -45071 0.5 FOS ZNF239 CEBPB MYC STAT3 MYOCD MYOCD-AS1 ARHGAP44 RF00017-2287 NONHSAG020852.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP44 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP44

Genomic Locations for ARHGAP44 Gene

Genomic Locations for ARHGAP44 Gene
chr17:12,789,498-12,991,643
(GRCh38/hg38)
Size:
202,146 bases
Orientation:
Plus strand
chr17:12,692,829-12,894,960
(GRCh37/hg19)
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.
    Miscellaneous:
    • [Isoform 2]: Contains a PDZ-binding motif at positions 764-767.
    SequenceCaution:
    • Sequence=AAP73805.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAP73805.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA31647.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGAP44 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP44 Gene

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

Blocks:
  • RhoGAP domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGAP44 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58097, moderately similar to Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA (A6NCP5_HUMAN)
  • RICH2 protein (Q8TBK1_HUMAN)
  • RhoGAP interacting with CIP4 homologs protein 2 (RHG44_HUMAN)

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). In dendrites, BAR domain mediates the recruitment to patches where plasma membrane is deformed by acto-myosin mediated contractile forces (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). In dendrites, BAR domain mediates the recruitment to patches where plasma membrane is deformed by acto-myosin mediated contractile forces (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. Acts as a GAP at least for CDC42 and RAC1 (PubMed:11431473). In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin-patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation (By similarity). In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation (By similarity).

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 ISS --
GO:0005515 protein binding IEA,IPI 19273615
GO:0005543 phospholipid binding IDA 22750946
GO:0048365 Rac GTPase binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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, presynapse. Cell projection, dendrite. Note=In CA1 hippocampal synapses, detected at both presynaptic and postsynaptic sites (By similarity). Located in convoluted dendritic plasma membrane sections enriched in polymerized actin and myosin (patches) along dendrites where often emerge filopodia (By similarity). {ECO:0000250 UniProtKB:F1LQX4, ECO:0000250 UniProtKB:Q5SSM3}.

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
nucleus 3
endosome 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

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:0014069 postsynaptic density IBA 21873635
GO:0030054 cell junction IEA --
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

3 Reactome pathways for ARHGAP44 Gene
1 GeneTex pathway 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 IBA 21873635
GO:0035021 negative regulation of Rac protein signal transduction IBA 21873635
GO:0043087 regulation of GTPase activity ISS --
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

mRNA/cDNA for ARHGAP44 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP44

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

No ASD Table

Relevant External Links for ARHGAP44 Gene

GeneLoc Exon Structure for
ARHGAP44

Expression for ARHGAP44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP44 31 30
  • 89.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgap44 30
  • 88.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP44 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgap44 17 31 30
  • 87.97 (n)
cow
(Bos Taurus)
Mammalia ARHGAP44 31 30
  • 87.15 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGAP44 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP44 31 30
  • 78.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP44 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497272 30
  • 70.1 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgap44 31
  • 72 (a)
OneToMany
si:ch211-114m9.1 30
  • 71.51 (n)
ARHGAP44 (1 of 2) 31
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP92B 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y34B4A.8 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP44: view image

Paralogs for ARHGAP44 Gene

Paralogs for ARHGAP44 Gene

(12) SIMAP similar genes for ARHGAP44 Gene using alignment to 7 proteins:

  • RHG44_HUMAN
  • A6NCP5_HUMAN
  • E7ERK8_HUMAN
  • F5H6L3_HUMAN
  • J3KRS3_HUMAN
  • J3QQU7_HUMAN
  • K7EK86_HUMAN
genes like me logo Genes that share paralogs with ARHGAP44: view

Variants for ARHGAP44 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP44 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
736658 Likely Benign: not provided 12,974,191(+) G/A SYNONYMOUS_VARIANT
790717 Benign: not provided 12,955,972(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs3213688 - p.Val463Met

Additional dbSNP identifiers (rs#s) for ARHGAP44 Gene

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

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

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

MalaCards: The human disease database

(2) MalaCards diseases for ARHGAP44 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP44

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

No data available for 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 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 54
  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 54

Products for ARHGAP44 Gene

Sources for ARHGAP44 Gene