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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
GIT2 - GIT ArfGAP 2
Alias:
PKL
CAT2
CAT-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码GIT蛋白家族的一员,与G蛋白偶联受体激酶相互作用,并具有ADP核糖基化因子(ARF) GTP酶激活蛋白(GAP)活性。GIT蛋白在细胞质复合物、粘着斑和细胞周缘之间穿梭,并与Pak相互作用交换因子β(PIX)相互作用,形成临时招募其他蛋白质的大型寡聚复合物。GIT蛋白调节细胞骨架动力学,并参与受体内化和膜转运。这个基因已经显示可以抑制膜片的延伸和粘着斑的更新,被认为可以调节细胞运动。这个基因经历广泛的替代剪接以产生多种异构体,但其中一些变异体的完整性质尚未确定。各种异构体在ARF GAP活性和G蛋白偶联受体激酶2结合方面具有不同的功能。[由RefSeq,2008年9月提供]
Related ID:
NCBI:9815
ENSEMBL:ENSG00000139436
HGNC:4273
UNIPROT:Q14161
OMIM:608564
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
9815
23
20
70361 bp
84.54
25
--
4
19
GIT2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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