GIT2

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GIT2
Identifiers
AliasesGIT2, CAT-2, CAT2, PKL, GIT ArfGAP 2
External IDsMGI: 1347053 HomoloGene: 41336 GeneCards: GIT2
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for GIT2
Genomic location for GIT2
Band12q24.11Start109,929,792 bp[1]
End109,996,389 bp[1]
RNA expression pattern
PBB GE GIT2 209876 at fs.png

PBB GE GIT2 204982 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077359
NM_001077360
NM_019834
NM_001347400

RefSeq (protein)

NP_001070827
NP_001070828
NP_001334329
NP_062808

Location (UCSC)Chr 12: 109.93 – 110 MbChr 5: 114.73 – 114.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function[edit]

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[edit]

Model organisms have been used in the study of GIT2 function. A conditional knockout mouse line, called Git2Gt(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]

Interactions[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139436 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041890 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Premont RT, Claing A, Vitale N, Freeman JL, Pitcher JA, Patton WA, Moss J, Vaughan M, Lefkowitz RJ (Nov 1998). "beta2-Adrenergic receptor regulation by GIT1, a G protein-coupled receptor kinase-associated ADP ribosylation factor GTPase-activating protein". Proceedings of the National Academy of Sciences of the United States of America. 95 (24): 14082–7. doi:10.1073/pnas.95.24.14082. PMC 24330Freely accessible. PMID 9826657. 
  6. ^ Premont RT, Claing A, Vitale N, Perry SJ, Lefkowitz RJ (Jul 2000). "The GIT family of ADP-ribosylation factor GTPase-activating proteins. Functional diversity of GIT2 through alternative splicing". The Journal of Biological Chemistry. 275 (29): 22373–80. doi:10.1074/jbc.275.29.22373. PMID 10896954. 
  7. ^ a b "Entrez Gene: GIT2 G protein-coupled receptor kinase interactor 2". 
  8. ^ "Hot plate data for Git2". Wellcome Trust Sanger Institute. 
  9. ^ "DEXA data for Git2". Wellcome Trust Sanger Institute. 
  10. ^ "Eye morphology data for Git2". Wellcome Trust Sanger Institute. 
  11. ^ "Clinical chemistry data for Git2". Wellcome Trust Sanger Institute. 
  12. ^ "Haematology data for Git2". Wellcome Trust Sanger Institute. 
  13. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  14. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  15. ^ "International Knockout Mouse Consortium". 
  16. ^ "Mouse Genome Informatics". 
  17. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  18. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  19. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  20. ^ a b van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353. 
  21. ^ Wellcome Trust Sanger Institute. "Viability at Weaning Data for Git2". Mouse Resources Portal. www.sanger.ac.uk.  External link in |publisher= (help)
  22. ^ Wellcome Trust Sanger Institute. "Fertility Data for Git2". Mouse Resources Portal. www.sanger.ac.uk.  External link in |publisher= (help)
  23. ^ Kim S, Ko J, Shin H, Lee JR, Lim C, Han JH, Altrock WD, Garner CC, Gundelfinger ED, Premont RT, Kaang BK, Kim E (Feb 2003). "The GIT family of proteins forms multimers and associates with the presynaptic cytomatrix protein Piccolo". The Journal of Biological Chemistry. 278 (8): 6291–300. doi:10.1074/jbc.M212287200. PMID 12473661. 

Further reading[edit]