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

TSKU - tsukushi, small leucine rich proteoglycan Gene

Homo sapiens

Also known as TSK; E2IG4; LRRC54

Gene ID: 25987 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

tsukushi

E2-induced gene 4 protein

Related Diseases

Diseases Alias
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
Diseases Alias
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

Orthologs Information

Species Symbol Source 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