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  2. NCDN - neurochondrin Gene

NCDN - neurochondrin Gene

中文名称:神经软骨素

种属: Homo sapiens

同用名: NEDIES

基因 ID: 23154 | 基因类型: protein coding

关于 NCDN

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:35,557,799-35,566,779 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues and is associated with 4 phenotypes. Biased expression in brain (RPKM 97.7), adrenal (RPKM 7.8) and 6 other tissues.

功能概要

该基因编码富含亮氨酸的细胞质蛋白,该蛋白与小鼠蛋白高度相似,后者负向调节 CA/钙调蛋白依赖性蛋白激酶 II 磷酸化,可能对空间学习过程至关重要。已经描述了该基因的几种可变剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates CA/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]

NCDN 基因产物(3)

mRNA Protein Name
NM_001014839.2 NP_001014839.1 neurochondrin isoform 1
NM_001014841.2 NP_001014841.1 neurochondrin isoform 2
NM_014284.3 NP_055099.1 neurochondrin isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
23687301 GOA
located in membrane IDA
IDA: 通过直接分析推断
23687301 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

NCDN 蛋白结构

Neurochondrin

Neurochondrin: Neurochondrin (30 - 637)

  • 0
  • 200
  • 400
  • 600
  • 729 a.a.
蛋白主名 其他名称

neurochondrin

norbin

NCDN 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
NCDN Q9UBB6 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
32296183
种属内
NCDN Q9UBB6 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
25416956
种属内
NCDN Q9UBB6 EFHC2 Homo sapiens Q5JST6
Y2H Array
32296183
种属内
NCDN Q9UBB6 KRT75 Homo sapiens O95678
Y2H Prey Pooling
32296183
种属内
NCDN Q9UBB6 KRT75 Homo sapiens O95678
Y2H Array
32296183
种属内
NCDN Q9UBB6 TINF2 Homo sapiens Q9BSI4
Pull Down
21044950
种属内
NCDN Q9UBB6 ZBED1 Homo sapiens O96006
Y2H Array
32296183
种属内
NCDN Q9UBB6 ZBED1 Homo sapiens O96006
Y2H Prey Pooling
32296183
种属内
NCDN Q9UBB6 PAX6 Homo sapiens P26367
Y2H Array
32296183
种属内
NCDN Q9UBB6 PAX6 Homo sapiens P26367
Y2H Prey Pooling
32296183
种属内
NCDN Q9UBB6 ZNF398 Homo sapiens Q8TD17
Y2H Prey Pooling
32296183
种属内
NCDN Q9UBB6 ZNF398 Homo sapiens Q8TD17
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Infantile Epileptic Spasms

NEDIES

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Autoimmune Neuropathy
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
Bos taurus NCDN VGNC VGNC:31910
Felis catus NCDN VGNC VGNC:63737
Macaca mulatta NCDN VGNC VGNC:74980
Canis familiaris NCDN VGNC VGNC:43648
Mus musculus NCDN MGD MGI:1347351
Rattus norvegicus NCDN RGD RGD:621734