1. Gene
  2. TSKU - tsukushi, small leucine rich proteoglycan Gene

TSKU - tsukushi, small leucine rich proteoglycan Gene

中文名称:tsukushi,富亮氨酸的小蛋白多糖

种属: Homo sapiens

同用名: TSK; E2IG4; LRRC54

基因 ID: 25987 | 基因类型: protein coding

关于 TSKU

Cytogenetic location: 11q13.5 Genomic coordinates (GRCh38): 11:76,782,280-76,798,144 (from NCBI)

This gene has 5 transcripts (splice variants), 205 orthologues and 22 paralogues. Broad expression in liver (RPKM 39.4), fat (RPKM 26.7) and 20 other tissues.

功能概要

预测可启用转化生长因子 β 结合活性。预计参与多个过程,包括动物器官发育;胆固醇流出;和胆固醇稳态。预计在多个过程的上游或内部起作用,包括睫状体形态发生; Wnt 信号通路的负调控;和端脑发育。预计位于细胞外空间。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable transforming growth factor beta binding activity. Predicted to be involved in several processes, including animal organ development; Cholesterol efflux; and Cholesterol homeostasis. Predicted to act upstream of or within several processes, including ciliary body morphogenesis; negative regulation of Wnt signaling pathway; and telencephalon development. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

TSKU 基因产物(5)

mRNA Protein Name
NM_001258210.2 NP_001245139.1 tsukushi isoform b precursor
NM_001318477.2 NP_001305406.1 tsukushi isoform a precursor
NM_001318478.2 NP_001305407.1 tsukushi isoform b precursor
NM_001318479.2 NP_001305408.1 tsukushi isoform b precursor
NM_015516.4 NP_056331.2 tsukushi isoform b precursor

TSKU 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (86 - 143)

LRR_8

LRR_8: Leucine rich repeat (207 - 265)

LRR_1

LRR_1: Leucine Rich Repeat (280 - 301)

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

tsukushi

E2-induced gene 4 protein

关联疾病

疾病名称 别名
Epilepsy, Idiopathic Generalized 4

EIG4

Epilepsy, Idiopathic Generalized, Susceptibility To 4

Idiopathic Generalized Epilepsy 4

Epilepsy, Idiopathic Generalized, Susceptibility To, 4

Epilepsy, Idiopathic Generalized Locus On Chromosome 10

Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 10

Barre-Lieou Syndrome

Cervicocranial Syndrome

Posterior Cervical Sympathetic Syndrome

Scheuermann Disease

Scheuermann'S Disease

Spinal Osteochondrosis

Juvenile Osteochondrosis Of Spine

Familial Scheuermann Disease

Familial Scheuermann Juvenile Kyphosis

Familial Spinal Osteochondrosis

Scheuermann Juvenile Kyphosis

Juvenile Osteochondritis Of The Spine

Juvenile Osteochondrosis Of Scheurermann

Scheuermann'S Kyphosis

Sherman'S Disease

Juvenile Kyphosis

Scheuermann Kyphosis

[X]Spinal Osteochondrosis, Unspecified

N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

Bardet-Biedl Syndrome 10

BBS10

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 10

Gallbladder Benign Neoplasm
Myasthenic Syndrome, Congenital, 21, Presynaptic

Congenital Myasthenic Syndrome 21

CMS21

Congenital Myasthenic Syndrome 21, Presynaptic

Gallbladder Adenoma
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
Rattus norvegicus TSKU RGD RGD:1359311
Bos taurus TSKU VGNC VGNC:54896
Canis familiaris TSKU VGNC VGNC:52857
Mus musculus TSKU MGD MGI:2443855
Macaca mulatta TSKU VGNC VGNC:79746