GIT2

GIT2
Identifiers
Aliases	GIT2, CAT-2, CAT2, PKL, GIT ArfGAP 2
External IDs	OMIM: 608564 MGI: 1347053 HomoloGene: 41336 GeneCards: GIT2
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.11 Start 109,929,804 bp[1] End 109,996,389 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 F Start 114,727,407 bp[2] End 114,775,517 bp[2]
RNA expression pattern Bgee Top expressed in blood cerebellar hemisphere colon spleen bone marrow middle temporal gyrus Brodmann area 23 More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GO:0001948 protein binding metal ion binding GO:0005097, GO:0005099, GO:0005100 GTPase activator activity Cellular component focal adhesion nucleoplasm Biological process GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity regulation of G protein-coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9815	26431
Ensembl	ENSG00000139436	ENSMUSG00000041890
UniProt	Q14161	Q9JLQ2
RefSeq (mRNA)	NM_001135213 NM_001135214 NM_014776 NM_057169 NM_057170 NM_139201 NM_001330153 NM_001330154	NM_001077359 NM_001077360 NM_019834 NM_001347400
RefSeq (protein)	NP_001128685 NP_001128686 NP_001317082 NP_001317083 NP_055591 NP_476510 NP_476511 NP_631940	NP_001070827 NP_001070828 NP_001334329 NP_062808
Location (UCSC)	Chr 12: 109.93 – 110 Mb	Chr 5: 114.73 – 114.78 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

ARF GTPase-activating protein GIT2 is an enzyme that in humans is encoded by the GIT2 gene.^[5][6][7]

Function[]

This gene encodes a member of the GIT protein family. GIT proteins interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. This gene undergoes extensive alternative splicing; although ten transcript variants have been described, the full length sequence has been determined for only four variants. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding.^[7]

Model organisms[]

Model organisms have been used in the study of GIT2 function. A conditional knockout mouse line, called Git2^{Gt(XG510)Byg[15][16]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.^[17][18][19]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[13][20] Mice lacking Git2 had no significant defects in viability or fertility,^[21][22] so further tests were carried out and four significant phenotypes were reported:^[13][20]

• Mutant mice had differences in their clinical blood chemistry compared to wildtype control mice.
• Mutant male mice had a decrease in white blood cell count.
• An increased thickness in hippocampus was observed.
• Mutant female mice were slower to respond to heat when placed on a hotplate.

Interactions[]

GIT2 has been shown to interact with GIT1.^[23]

References[]

Further reading[]