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GIT2 GIT ArfGAP 2 [ Homo sapiens (human) ]

Gene ID: 9815, updated on 5-Apr-2020

Summary

Official Symbol
GIT2provided by HGNC
Official Full Name
GIT ArfGAP 2provided by HGNC
Primary source
HGNC:HGNC:4273
See related
Ensembl:ENSG00000139436 MIM:608564
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PKL; CAT2; CAT-2
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 15.0), lymph node (RPKM 13.1) and 25 other tissues See more
Orthologs

Genomic context

See GIT2 in Genome Data Viewer
Location:
12q24.11
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (109929792..109996368, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110367607..110434194, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene glycolipid transfer protein Neighboring gene RNA, 7SL, cytoplasmic 441, pseudogene Neighboring gene trichoplein keratin filament binding Neighboring gene Sharpr-MPRA regulatory region 2512 Neighboring gene ankyrin repeat domain 13A Neighboring gene chromosome 12 open reading frame 76

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men.
NHGRI GWA Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC760, KIAA0148, DKFZp686G01261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
focal adhesion HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ARF GTPase-activating protein GIT2
Names
ARF GAP GIT2
G protein-coupled receptor kinase interacting ArfGAP 2
G protein-coupled receptor kinase-interactor 2
GRK-interacting protein 2
Paxillin kinase linker
cool-associated, tyrosine phosphorylated protein 2
cool-interacting tyrosine-phosphorylated protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029885.1 RefSeqGene

    Range
    5022..71586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135213.3NP_001128685.1  ARF GTPase-activating protein GIT2 isoform 6

    See identical proteins and their annotated locations for NP_001128685.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two in-frame exons in the 3' coding region and includes an additional short in-frame exon in the central coding region, compared to isoform 1. The resulting isoform (6) is missing two internal fragments and includes a 2 residue insertion, compared to isoform 1.
    Source sequence(s)
    AA813937, BP871813, D63482
    Consensus CDS
    CCDS55884.1
    UniProtKB/Swiss-Prot
    Q14161
    Related
    ENSP00000391813.2, ENST00000457474.6
    Conserved Domains (6) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:268296
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:560674
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  2. NM_001135214.3NP_001128686.1  ARF GTPase-activating protein GIT2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks one in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (5) is missing one fragment but has the same N- and C-termini as isoform 1.
    Source sequence(s)
    AA813937, AF124491, BP871813, CR749340, D63482
    Consensus CDS
    CCDS44968.1
    UniProtKB/Swiss-Prot
    Q14161
    UniProtKB/TrEMBL
    Q68DM7
    Related
    ENSP00000354282.5, ENST00000361006.9
    Conserved Domains (7) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:608722
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    pfam16559
    Location:414478
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  3. NM_001330153.2NP_001317082.1  ARF GTPase-activating protein GIT2 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting isoform (7) is shorter but has the same N- and C-termini as isoform 1.
    Source sequence(s)
    AA813937, AF124491, BE646544, BP871813, CR980157, D63482
    Consensus CDS
    CCDS81736.1
    UniProtKB/Swiss-Prot
    Q14161
    UniProtKB/TrEMBL
    F8VXI9
    Related
    ENSP00000448832.1, ENST00000551209.5
    Conserved Domains (6) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:265293
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:587701
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  4. NM_001330154.2NP_001317083.1  ARF GTPase-activating protein GIT2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks most 3' exons and has an alternate exon at the 3' end, as compared to variant 1. Isoform 8 is much shorter and has a different C-terminus than isoform 1.
    Source sequence(s)
    AC084876, AK222736, BM557270, BP871813
    Consensus CDS
    CCDS81737.1
    UniProtKB/TrEMBL
    F8W822, Q6FI58
    Related
    ENSP00000323833.9, ENST00000320063.10
    Conserved Domains (4) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
    pfam08518
    Location:266293
    GIT_SHD; Spa2 homology domain (SHD) of GIT
  5. NM_014776.5NP_055591.2  ARF GTPase-activating protein GIT2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the coding region, as compared to variant 1. Isoform 3 is missing two fragments but has the same N- and C-termini as isoform 1.
    Source sequence(s)
    AA813937, AF124491, BP871813, D63482
    UniProtKB/Swiss-Prot
    Q14161
    Related
    ENSP00000346585.4, ENST00000354574.8
    Conserved Domains (6) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:558672
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  6. NM_057169.5NP_476510.1  ARF GTPase-activating protein GIT2 isoform 1

    See identical proteins and their annotated locations for NP_476510.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA813937, AF124491, BP871813, D63482
    Consensus CDS
    CCDS9138.1
    UniProtKB/Swiss-Prot
    Q14161
    Related
    ENSP00000347464.3, ENST00000355312.8
    Conserved Domains (7) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:638752
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    pfam16559
    Location:414478
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  7. NM_057170.5NP_476511.1  ARF GTPase-activating protein GIT2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons and a portion of a third exon in the coding region, as compared to variant 1. The reading frame is maintained. Isoform 2 is missing internal 128 aa but has the same N- and C-termini as isoform 1.
    Source sequence(s)
    AA813937, AK308304, BC014223, BP871813, D63482
    Consensus CDS
    CCDS44969.1
    UniProtKB/Swiss-Prot
    Q14161
    Related
    ENSP00000447465.1, ENST00000553118.5
    Conserved Domains (6) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
    pfam08518
    Location:266293
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:510624
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam16559
    Location:414450
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  8. NM_139201.3NP_631940.2  ARF GTPase-activating protein GIT2 isoform 4

    See identical proteins and their annotated locations for NP_631940.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks most 3' exons and has an alternate exon at the 3' end, as compared to variant 1. Isoform 4 is much shorter and has a different C-terminus than isoform 1.
    Source sequence(s)
    AC084876, AK222736, BM557270, BP871813
    Consensus CDS
    CCDS9139.1
    UniProtKB/TrEMBL
    Q6FI58
    Related
    ENSP00000450348.1, ENST00000547815.5
    Conserved Domains (5) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
    pfam08518
    Location:266293
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam16559
    Location:414465
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    109929792..109996368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020258.2XP_016875747.1  ARF GTPase-activating protein GIT2 isoform X4

  2. XM_005253997.4XP_005254054.1  ARF GTPase-activating protein GIT2 isoform X1

    Conserved Domains (7) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:265293
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:637751
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    pfam16559
    Location:413477
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  3. XM_006719712.4XP_006719775.1  ARF GTPase-activating protein GIT2 isoform X8

    Conserved Domains (6) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:475589
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  4. XM_006719708.4XP_006719771.1  ARF GTPase-activating protein GIT2 isoform X3

    Conserved Domains (7) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:593707
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    pfam16559
    Location:414463
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  5. XM_006719707.4XP_006719770.1  ARF GTPase-activating protein GIT2 isoform X2

    UniProtKB/Swiss-Prot
    Q14161
    Conserved Domains (7) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:623737
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    pfam16559
    Location:414463
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  6. XM_017020260.2XP_016875749.1  ARF GTPase-activating protein GIT2 isoform X7

  7. XM_017020259.2XP_016875748.1  ARF GTPase-activating protein GIT2 isoform X6

  8. XM_006719709.4XP_006719772.1  ARF GTPase-activating protein GIT2 isoform X5

    UniProtKB/Swiss-Prot
    Q14161
    Conserved Domains (6) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:588702
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  9. XM_017020261.2XP_016875750.1  ARF GTPase-activating protein GIT2 isoform X9

  10. XM_006719713.4XP_006719776.1  ARF GTPase-activating protein GIT2 isoform X10

    Conserved Domains (6) summary
    smart00105
    Location:2124
    ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
    cd00204
    Location:109220
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam08518
    Location:266294
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12796
    Location:137229
    Ank_2; Ankyrin repeats (3 copies)
    pfam16559
    Location:414449
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
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