2. Gene
  3. HMX2 - H6 family homeobox 2 Gene

HMX2 - H6 family homeobox 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：H6 家族同源盒 2

种属: Homo sapiens

同用名: H6L; Nkx5-2

基因 ID: 3167 | 基因类型: protein coding

关于 HMX2

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:123,148,136-123,150,672 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues and 3 paralogues. Biased expression in kidney (RPKM 1.3) and duodenum (RPKM 0.1).

功能概要

该基因编码的蛋白质是 NKL 同源框转录因子家族的成员。这个家族的成员起源古老，在胚胎发生过程中的器官发育中发挥着重要作用。一种相关的小鼠蛋白在内耳结构的模式化中发挥作用。在人类中，包含该基因的区域的变异与内耳畸形、前庭功能障碍和听力损失有关。[RefSeq 提供，2012 年 8 月]

The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]

HMX2 基因产物(1)

mRNA Protein Name
NM_005519.2 NP_005510.1 homeobox protein HMX2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HMX2 蛋白结构

Homeobox

Homeobox: Homeobox domain (150 - 206)

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

homeobox protein HMX2

homeo box (H6 family) 2

关联疾病

疾病名称 别名
Abnormality Of Glucagon Secretion

Glucagon Secretion Abnormality

Abnormality Of Secretion Of Glucagon
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
Cecum Carcinoma

Cecum Cancer

Caecum Carcinoma

Carcinoma Of Cecum

Cecal Cancer

Malignant Neoplasm Of Caecum

Malignant Tumor Of The Cecum
Jackson-Weiss Syndrome

JWS

Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06253 HMX2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22201 Hmx2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28723 Hmx2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HMX2 RGD RGD:1565366
Canis familiaris HMX2 VGNC VGNC:41722
Bos taurus HMX2 VGNC VGNC:29888
Mus musculus HMX2 MGD MGI:107159
Macaca mulatta HMX2 VGNC VGNC:106057
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