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  2. HMX3 - H6 family homeobox 3 Gene

HMX3 - H6 family homeobox 3 Gene

中文名称:H6 家族同源盒 3

种属: Homo sapiens

同用名: NKX5.1; Nkx5-1; NKX-5.1

基因 ID: 340784 | 基因类型: protein coding

关于 HMX3

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:123,135,970-123,139,423 (from NCBI)

This gene has 1 transcript (splice variant), 256 orthologues and 3 paralogues. Low expression observed in reference dataset.

功能概要

预测启用 DNA 结合转录因子活性、RNA 聚合酶 II 特异性和 RNA 聚合酶 II 转录调节区序列特异性 DNA 结合活性。预计通过 RNA 聚合酶 II 参与耳朵发育和转录调节。预计在几个过程的上游或内部起作用,包括胚胎植入;参与女性怀孕的母体过程;和神经肌肉过程控制平衡。预测是染色质的一部分。预计活跃于核心。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in ear development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including embryo implantation; maternal process involved in female pregnancy; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

HMX3 基因产物(1)

mRNA Protein Name
NM_001105574.2 NP_001099044.1 homeobox protein HMX3

HMX3 蛋白结构

Homeobox

Homeobox: Homeobox domain (228 - 284)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
蛋白主名 其他名称

homeobox protein HMX3

homeo box (H6 family) 3

关联疾病

疾病名称 别名
Oculoauricular Syndrome

OCACS

Schorderet-Munier-Franceschetti Syndrome

Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear

Oculoauricular Syndrome, Schorderet Type

Oculo-Auricular Syndrome

Deafness, Autosomal Recessive 17

DFNB17

Autosomal Recessive Nonsyndromic Deafness 17

Autosomal Recessive Deafness 17

Superior Semicircular Canal Dehiscence

Superior Canal Dehiscence Syndrome

Superior Semicircular Canal Dehiscence Syndrome

Canal Dehiscence Syndrome

Superior Canal Dehiscence

Superior Canal Syndrome

Third Mobile Window Syndrome

Scds

Anemia, Sickle Cell

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris HMX3 VGNC VGNC:49908
Bos taurus HMX3 VGNC VGNC:50191
Mus musculus HMX3 MGD MGI:107160
Macaca mulatta HMX3 VGNC VGNC:73491
Rattus norvegicus HMX3 RGD RGD:1559927