2. Gene
  3. NKX6-2 - NK6 homeobox 2 Gene

NKX6-2 - NK6 homeobox 2 Gene

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

中文名称：NK6 同源框 2

种属: Homo sapiens

同用名: GTX; NKX6B; SPAX8; NKX6.2

基因 ID: 84504 | 基因类型: protein coding

关于 NKX6-2

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:132,783,181-132,786,147 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in stomach (RPKM 17.5), brain (RPKM 14.0) and 25 other tissues.

功能概要

启用序列特异性双链 DNA 结合活性。预计参与细胞分化；髓鞘形成的调节；和转录调控，DNA 模板化。预计在几个过程的上游或内部起作用，包括 RNA 聚合酶 II 对转录的负调节；神经发生；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。涉及痉挛性共济失调 8。[由基因组资源联盟提供，2022 年 4 月]

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; regulation of myelination; and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; neurogenesis; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in spastic ataxia 8. [provided by Alliance of Genome Resources, Apr 2022]

NKX6-2 基因产物(1)

mRNA Protein Name
NM_177400.3 NP_796374.2 homeobox protein Nkx-6.2
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

NKX6-2 蛋白结构

Homeobox

Homeobox: Homeobox domain (149 - 205)

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

homeobox protein Nkx-6.2

NK homeobox family 6, B

关联疾病

疾病名称 别名
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy

SPAX8

Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy

Autosomal Recessive Hypomyelinating Leukodystrophy-Progressive Spastic Ataxia
Spastic Ataxia 8
Nkx6-2-Related Disorder

Nkx6-2-Related Spastic Ataxia With Hypomyelination

Spax8
Spastic Ataxia

Spax

Ataxia, Spastic
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Leukodystrophy

Leukodystrophies
Pancreatic Agenesis

Partial Pancreatic Agenesis

Congenital Pancreatic Agenesis

Partial Agenesis Of The Pancreas

Agenesis, Pancreatic

Pancreatic Agenesis, Congenital
X-Linked Nephrolithiasis Type I

Nephrolithiasis 1

Nephrolithiasis X-Linked Recessive Type 1

Nphl1

X-Linked Nephrolithiasis With Renal Failure

X-Linked Recessive Urolithiasis Type 1

Xrn
Maturity-Onset Diabetes Of The Young, Type 4

Maturity-Onset Diabetes Of The Young Type 4

MODY4

Mody, Type Iv

Mody Type 4

Mody, Type 4

Maturity-Onset Diabetes Of The Young 4

Mody-4

Diabetes Of The Young, Maturity-Onset, Type 4

Maturity-Onset Diabetes Of The Young, Type Iv
Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3

MODY3

Mody, Type Iii

Mody Type 3

Mody, Type 3

Maturity-Onset Diabetes Of The Young 3

Mody-3

Diabetes Of The Young, Maturity-Onset, Type 3
Spasticity
Neonatal Diabetes

Neonatal Diabetes Mellitus

Diabetes Mellitus Syndrome In Newborn Infant

Ndm
Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset
Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1

MODY1

Mild Juvenile Diabetes Mellitus

Mody, Type I

Diabetes Mellitus Type 2

Mody Type 1

Mody, Type 1

Maturity-Onset Diabetes Of The Young 1

Mody-1

Diabetes Of The Young, Maturity-Onset, Type 1
Pancreatic Cystadenoma

Cystadenoma Of Pancreas
Permanent Neonatal Diabetes Mellitus

Pndm

Permanent Diabetes Mellitus Of Infancy

Pdmi

Neonatal Diabetes Mellitus, Permanent
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09336 NKX6-2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris NKX6-2 VGNC VGNC:43837
Mus musculus NKX6-2 MGD MGI:1352738
Bos taurus NKX6-2 VGNC VGNC:106841
Macaca mulatta NKX6-2 VGNC VGNC:106081
Rattus norvegicus NKX6-2 RGD RGD:1307280
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