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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
HMX2 - H6 Family Homeobox 2
Alias:
H6L
Nkx5-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是NKL同源框家族转录因子的一员。这个家族的成员具有古老的起源,在胚胎发生过程中的器官发育中起着重要作用。一个相关的鼠蛋白在内耳结构的模式形成中发挥作用。在人类中,包含这个基因的区域的变化与内耳畸形、前庭功能障碍和听力损失有关。[由RefSeq,2012年8月提供]
Related ID:
NCBI:3167
ENSEMBL:ENSG00000188816
HGNC:5018
UNIPROT:A2RU54
OMIM:600647
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3167
1
2
2537 bp
29.60
16
--
7
1
HMX2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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Mutations
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Status
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References Literature
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