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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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人类
ASAP2 - ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 2
Alias:
PAP
PAG3
AMAP2
DDEF2
SHAG1
CENTB3
Pap-alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
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该基因编码一个多结构域蛋白,包括N端α-螺旋区,具有螺旋-螺旋基序,接着是Pleckstrin同源性(PH)结构域,Arf-GAP结构域,ankyrin同源性区域,富含脯氨酸区域和C端的Src同源性3(SH3)结构域。该蛋白定位在高尔基体和质膜上,并与蛋白酪氨酸激酶2-β(PYK2)共定位。编码的蛋白与PYK2在活体内形成稳定的复合物。这种相互作用似乎是通过其SH3结构域结合PYK2的C端富含脯氨酸区域来介导的。该编码蛋白被活化的PYK2磷酸化。它在体外具有I类和II类ArfGAPs的催化活性,可以结合III类Arf ARF6,但不立即具有GAP活性。认为该编码蛋白作为ARF GAP,当招募到高尔基体膜上时,控制ARF介导的囊泡萌发。此外,它作为PYK2和SRC的底物和下游靶标发挥作用,一个可能涉及调节囊泡运输的途径。已发现该基因的多转录变异体,编码不同的异构体。[RefSeq,2008年9月提供]
Related ID:
NCBI:8853
ENSEMBL:ENSG00000151693
HGNC:2721
UNIPROT:O43150
OMIM:603817
Basic Information
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8853
22
28
198867 bp
111.65
46
--
4
11
ASAP2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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