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Aliases for GIT2 Gene

Aliases for GIT2 Gene

  • GIT ArfGAP 2 2 3 5
  • G Protein-Coupled Receptor Kinase Interacting ArfGAP 2 2 3
  • Cool-Interacting Tyrosine-Phosphorylated Protein 2 3 4
  • G Protein-Coupled Receptor Kinase-Interactor 2 3 4
  • ARF GTPase-Activating Protein GIT2 3 4
  • GRK-Interacting Protein 2 3 4
  • Paxillin Kinase Linker 2 3
  • ARF GAP GIT2 3 4
  • CAT-2 3 4
  • CAT2 3 4
  • Cool-Associated, Tyrosine Phosphorylated Protein 2 3
  • G Protein-Coupled Receptor Kinase Interactor 2 2
  • KIAA0148 4
  • PKL 3

External Ids for GIT2 Gene

Previous GeneCards Identifiers for GIT2 Gene

  • GC12M109433
  • GC12M110206
  • GC12M108830
  • GC12M110367
  • GC12M107383

Summaries for GIT2 Gene

Entrez Gene Summary for GIT2 Gene

  • This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]

GeneCards Summary for GIT2 Gene

GIT2 (GIT ArfGAP 2) is a Protein Coding gene. Diseases associated with GIT2 include Systemic Scleroderma and Collagen Disease. Among its related pathways are Focal Adhesion and Adhesion. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is GIT1.

UniProtKB/Swiss-Prot for GIT2 Gene

  • GTPase-activating protein for the ADP ribosylation factor family.

Gene Wiki entry for GIT2 Gene

Additional gene information for GIT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIT2 Gene

Genomics for GIT2 Gene

GeneHancer (GH) Regulatory Elements for GIT2 Gene

Promoters and enhancers for GIT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GIT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GIT2 gene promoter:
  • AML1a
  • AP-1
  • CUTL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • Elk-1
  • En-1

Genomic Locations for GIT2 Gene

Genomic Locations for GIT2 Gene
chr12:109,929,802-109,996,389
(GRCh38/hg38)
Size:
66,588 bases
Orientation:
Minus strand
chr12:110,367,607-110,434,194
(GRCh37/hg19)
Size:
66,588 bases
Orientation:
Minus strand

Genomic View for GIT2 Gene

Genes around GIT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIT2 Gene

Proteins for GIT2 Gene

  • Protein details for GIT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14161-GIT2_HUMAN
    Recommended name:
    ARF GTPase-activating protein GIT2
    Protein Accession:
    Q14161
    Secondary Accessions:
    • Q86U59
    • Q96CI2
    • Q9BV91
    • Q9Y5V2

    Protein attributes for GIT2 Gene

    Size:
    759 amino acids
    Molecular mass:
    84543 Da
    Quaternary structure:
    • Interacts with TGFB1I1 (By similarity). Interacts with G protein-coupled receptor kinases. Associates with paxillin. Also interacts with PIX exchange factors. Identified in a complex with ARHGEF6 and BIN2.
    SequenceCaution:
    • Sequence=BAA09769.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GIT2 Gene

neXtProt entry for GIT2 Gene

Post-translational modifications for GIT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GIT2 Gene

Domains & Families for GIT2 Gene

Gene Families for GIT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GIT2 Gene

GenScript: Design optimal peptide antigens:
  • G protein-coupled receptor kinase-interactor 2 isoform 4 (B5BU58_HUMAN)
  • GRK-interacting protein 2 (GIT2_HUMAN)
  • GIT2 protein (Q6FI58_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GIT2: view

No data available for UniProtKB/Swiss-Prot for GIT2 Gene

Function for GIT2 Gene

Molecular function for GIT2 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein for the ADP ribosylation factor family.

Phenotypes From GWAS Catalog for GIT2 Gene

Gene Ontology (GO) - Molecular Function for GIT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA,IPI 16628223
GO:0016301 kinase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GIT2: view
genes like me logo Genes that share phenotypes with GIT2: view

Animal Models for GIT2 Gene

MGI Knock Outs for GIT2:

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for GIT2 - Now 50% OFF >
  • * GIT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GIT2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GIT2 Gene

Localization for GIT2 Gene

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 GIT2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GIT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA 10942595
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with GIT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GIT2 Gene

Pathways & Interactions for GIT2 Gene

genes like me logo Genes that share pathways with GIT2: view

Pathways by source for GIT2 Gene

1 KEGG pathway for GIT2 Gene
2 Cell Signaling Technology pathways for GIT2 Gene

SIGNOR curated interactions for GIT2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GIT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008277 regulation of G protein-coupled receptor signaling pathway TAS 10896954
GO:0016310 phosphorylation IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with GIT2: view

Drugs & Compounds for GIT2 Gene

(1) Drugs for GIT2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GIT2: view

Transcripts for GIT2 Gene

Unigene Clusters for GIT2 Gene

G protein-coupled receptor kinase interacting ArfGAP 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for GIT2 - Now 50% OFF >
  • * GIT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GIT2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for GIT2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^
SP1: - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - - - -
SP6: - - - - - - - - - - - - - - - - - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b · 25c · 25d · 25e · 25f
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4:
SP5: - - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - -
SP9: - - -
SP10:
SP11:
SP12:

Relevant External Links for GIT2 Gene

GeneLoc Exon Structure for
GIT2
ECgene alternative splicing isoforms for
GIT2

Expression for GIT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GIT2 Gene

mRNA differential expression in normal tissues according to GTEx for GIT2 Gene

This gene is overexpressed in Whole Blood (x6.4).

Protein differential expression in normal tissues from HIPED for GIT2 Gene

This gene is overexpressed in Heart (14.7), Lymph node (12.0), and Peripheral blood mononuclear cells (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GIT2 Gene



Protein tissue co-expression partners for GIT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GIT2 Gene:

GIT2

SOURCE GeneReport for Unigene cluster for GIT2 Gene:

Hs.434996

Evidence on tissue expression from TISSUES for GIT2 Gene

  • Bone marrow(4.3)
  • Liver(4.2)
  • Skin(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with GIT2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GIT2 Gene

Orthologs for GIT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GIT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GIT2 35 34
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GIT2 35 34
  • 92.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GIT2 35 34
  • 92.14 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GIT2 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Git2 34
  • 87.15 (n)
mouse
(Mus musculus)
Mammalia Git2 17 35 34
  • 86.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GIT2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GIT2 35 34
  • 80.74 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia git2 34
  • 77.27 (n)
Str.9172 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11463 34
zebrafish
(Danio rerio)
Actinopterygii git2b 35
  • 73 (a)
OneToMany
git2a 35 34
  • 70.38 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006888 34
  • 50.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta Git 35 34
  • 47.65 (n)
OneToMany
CG16728 36
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea F14F3.2 36
  • 35 (a)
git-1 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for GIT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 GIT2 Gene

ENSEMBL:
Gene Tree for GIT2 (if available)
TreeFam:
Gene Tree for GIT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GIT2: view image

Paralogs for GIT2 Gene

(6) SIMAP similar genes for GIT2 Gene using alignment to 8 proteins:

  • GIT2_HUMAN
  • B5BU58_HUMAN
  • F8VXI9_HUMAN
  • F8W7V0_HUMAN
  • F8W822_HUMAN
  • F8WAK2_HUMAN
  • Q6FI58_HUMAN
  • R4GNG3_HUMAN
genes like me logo Genes that share paralogs with GIT2: view

Variants for GIT2 Gene

Sequence variations from dbSNP and Humsavar for GIT2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000001728 -- 109,955,823(-) C/T intron_variant
rs1000129338 -- 109,963,235(-) A/G intron_variant
rs1000154710 -- 109,995,029(-) T/C intron_variant
rs1000156171 -- 109,963,193(-) A/C intron_variant
rs1000182247 -- 109,963,691(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GIT2 Gene

Variant ID Type Subtype PubMed ID
nsv1138168 CNV deletion 24896259
nsv884 CNV insertion 18451855
nsv952475 CNV duplication 24416366

Variation tolerance for GIT2 Gene

Residual Variation Intolerance Score: 6.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GIT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIT2
Human Gene Mutation Database (HGMD)
GIT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIT2 Gene

Disorders for GIT2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GIT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
systemic scleroderma
  • scleroderma, familial progressive
collagen disease
  • collagen disorder
- elite association - COSMIC cancer census association via MalaCards
Search GIT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GIT2

genes like me logo Genes that share disorders with GIT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GIT2 Gene

Publications for GIT2 Gene

  1. An ADP-ribosylation factor GTPase-activating protein Git2-short/KIAA0148 is involved in subcellular localization of paxillin and actin cytoskeletal organization. (PMID: 11251077) Mazaki Y … Sabe H (Molecular biology of the cell 2001) 3 4 23 58
  2. The GIT family of ADP-ribosylation factor GTPase-activating proteins. Functional diversity of GIT2 through alternative splicing. (PMID: 10896954) Premont RT … Lefkowitz RJ (The Journal of biological chemistry 2000) 2 3 4 58
  3. A genome-wide association study of the metabolic syndrome in Indian Asian men. (PMID: 20694148) Zabaneh D … Balding DJ (PloS one 2010) 3 45 58
  4. The multifunctional GIT family of proteins. (PMID: 16598076) Hoefen RJ … Berk BC (Journal of cell science 2006) 3 23 58
  5. GIT2 represses Crk- and Rac1-regulated cell spreading and Cdc42-mediated focal adhesion turnover. (PMID: 16628223) Frank SR … Hansen SH (The EMBO journal 2006) 3 23 58

Products for GIT2 Gene

Sources for GIT2 Gene

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