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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
HBG2 - Hemoglobin Subunit Gamma 2
Alias:
TNCY
HBG-T1
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Gamma珠蛋白基因(HBG1和HBG2)通常在胎儿的肝脏、脾脏和骨髓中表达。两条γ链与两条α链共同构成胎儿血红蛋白(HbF),通常在出生时由成人血红蛋白(HbA)替代。在某些β地中海贫血症和相关病症中,γ链的生成会持续至成年。两种γ链在残基136处有所不同,G-γ产物(HBG2)中存在甘氨酸,而A-γ产物(HBG1)中存在丙氨酸。前者在出生时占主导地位。β珠蛋白簇中的基因顺序为:5'-ε-γ-G-γ-A-δ-β-3'。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3048
ENSEMBL:ENSG00000196565
HGNC:4832
UNIPROT:P69892
OMIM:142250
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3048
1
3
1594 bp
16.13
59
5
8
54
HBG2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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