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  2. TNIK - TRAF2 and NCK interacting kinase Gene

TNIK - TRAF2 and NCK interacting kinase Gene

中文名称:TRAF2 和 NCK 相互作用激酶

种属: Homo sapiens

同用名: MRT54

基因 ID: 23043 | 基因类型: protein coding

关于 TNIK

Cytogenetic location: 3q26.2-q26.31 Genomic coordinates (GRCh38): 3:171,058,414-171,460,408 (from NCBI)

This gene has 15 transcripts (splice variants), 268 orthologues, 35 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 10.5), small intestine (RPKM 7.1) and 20 other tissues.

功能概要

Wnt 信号在癌变和胚胎发育中起重要作用。该基因编码的蛋白质是一种丝氨酸/苏氨酸激酶,可作为 Wnt 信号通路的激活剂。该基因的突变与常染色体隐性遗传形式的认知障碍有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2017 年 7 月]

Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

TNIK 基因产物(9)

mRNA Protein Name
NM_001161564.3 NP_001155036.1 TRAF2 and NCK-interacting protein kinase isoform 6
NM_001161565.3 NP_001155037.1 TRAF2 and NCK-interacting protein kinase isoform 7
NM_001161560.3 NP_001155032.1 TRAF2 and NCK-interacting protein kinase isoform 2
NM_001161566.3 NP_001155038.1 TRAF2 and NCK-interacting protein kinase isoform 8
NM_001161561.3 NP_001155033.1 TRAF2 and NCK-interacting protein kinase isoform 3
NM_001161563.3 NP_001155035.1 TRAF2 and NCK-interacting protein kinase isoform 5
NM_015028.4 NP_055843.1 TRAF2 and NCK-interacting protein kinase isoform 1
NR_027767.2
NM_001161562.3 NP_001155034.1 TRAF2 and NCK-interacting protein kinase isoform 4
基因本体论
  • 分子功能
  • 生物过程
  • 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
10521462 GOA
enables protein kinase activity IDA
IDA: 通过直接分析推断
22797597 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
10521462 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin cytoskeleton organization IDA
IDA: 通过直接分析推断
15342639 GOA
involved in cytoskeleton organization IMP
IMP: 通过突变表型推断
10521462 GOA
involved in intracellular signal transduction IDA
IDA: 通过直接分析推断
10521462 GOA
involved in microvillus assembly IMP
IMP: 通过突变表型推断
22797597 GOA
involved in positive regulation of JNK cascade IDA
IDA: 通过直接分析推断
15342639 GOA
involved in positive regulation of JNK cascade IMP
IMP: 通过突变表型推断
10521462 GOA
involved in positive regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
22797597 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
10521462 GOA
involved in protein localization to plasma membrane IMP
IMP: 通过突变表型推断
22797597 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
10521462 GOA
involved in regulation of dendrite morphogenesis IDA
IDA: 通过直接分析推断
20159449 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
22797597 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15342639 GOA
located in cytoskeleton IDA
IDA: 通过直接分析推断
15342639 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19816403 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

TNIK 蛋白结构

Pkinase

Pkinase: Protein kinase domain (25 - 289)

CNH

CNH: CNH domain (1052 - 1330)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1360 a.a.
蛋白主名 其他名称

TRAF2 and NCK-interacting protein kinase

关联疾病

疾病名称 别名
Scoliosis
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Intellectual Developmental Disorder, Autosomal Recessive 54

MRT54

Mental Retardation, Autosomal Recessive 54

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 TNIK VGNC VGNC:36179
Macaca mulatta TNIK VGNC VGNC:81595
Felis catus TNIK VGNC VGNC:97666
Mus musculus TNIK MGD MGI:1916264
Rattus norvegicus TNIK RGD RGD:1561817
Canis familiaris TNIK VGNC VGNC:47675
Others TNIK NCBI