1. Gene
  2. STK32B - serine/threonine kinase 32B Gene

STK32B - serine/threonine kinase 32B Gene

中文名称:丝氨酸/苏氨酸激酶 32B

种属: Homo sapiens

同用名: STK32; STKG6; YANK2; HSA250839

基因 ID: 55351 | 基因类型: protein coding

关于 STK32B

This gene has 8 transcripts (splice variants), 146 orthologues and 13 paralogues. Broad expression in kidney (RPKM 2.0), testis (RPKM 1.4) and 14 other tissues.

功能概要

该基因编码丝氨酸-苏氨酸蛋白激酶。丝氨酸-苏氨酸激酶将磷酸分子转移到丝氨酸和苏氨酸的氧原子上。影响该基因的基因组缺失与 Ellis-van Creveld 综合征有关,这是一种常染色体隐性遗传的骨骼发育不良。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 9 月]

This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

STK32B 基因产物(3)

mRNA Protein Name
NM_001306082.2 NP_001293011.1 serine/threonine-protein kinase 32B isoform 2
NM_001345969.2 NP_001332898.1 serine/threonine-protein kinase 32B isoform 3
NM_018401.3 NP_060871.1 serine/threonine-protein kinase 32B isoform 1

STK32B 蛋白结构

Pkinase

Pkinase: Protein kinase domain (23 - 279)

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

serine/threonine-protein kinase 32B

gene for serine/threonine protein kinase

关联疾病

疾病名称 别名
Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Hemochromatosis, Type 2a

Hemochromatosis Type 2a

HFE2A

Juvenile Hemochromatosis

Hemochromatosis 2a

Hefe2

Hemochromatosis Type 2

Jh

Dysostosis

Dysostoses

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
Felis catus STK32B VGNC VGNC:65781
Mus musculus STK32B MGD MGI:1927552
Macaca mulatta STK32B VGNC VGNC:78114
Canis familiaris STK32B VGNC VGNC:46914
Bos taurus STK32B VGNC VGNC:106956
Rattus norvegicus STK32B RGD RGD:1306173