GIT2

GIT2
Identifiers
Aliases	GIT2, CAT-2, CAT2, PKL, GIT ArfGAP 2
External IDs	MGI: 1347053 HomoloGene: 41336 GeneCards: GIT2
Genetically Related Diseases
disease of metabolism[1]
Gene ontology Molecular function • protein complex binding • protein binding • metal ion binding • GTPase activator activity Cellular component • focal adhesion • nucleoplasm Biological process • positive regulation of GTPase activity • behavioral response to pain • regulation of G-protein coupled receptor protein signaling pathway Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
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_001077359 NM_001077360 NM_019834
RefSeq (protein)	NP_001128685.1 NP_001128686.1 NP_055591.2 NP_476510.1 NP_476511.1	NP_062808.3
Location (UCSC)	Chr 12: 109.93 – 110 Mb	Chr 5: 114.73 – 114.78 Mb
PubMed search	[2]	[3]
Wikidata

ARF GTPase-activating protein GIT2 is an enzyme that in humans is encoded by the GIT2 gene.^[4][5][6]

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.^[6]

Model organisms

Model organisms have been used in the study of GIT2 function. A conditional knockout mouse line, called Git2^{Gt(XG510)Byg[14][15]} 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.^[16][17][18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[12][19] Mice lacking Git2 had no significant defects in viability or fertility,^[20][21] so further tests were carried out and four significant phenotypes were reported:^[12][19]

• 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.^[22]

References

Further reading