TMEM63B - transmembrane protein 63B Gene

Also Known as C6orf110

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55362

About TMEM63B

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:44,126,633-44,155,519 (from NCBI)

This gene has 10 transcripts (splice variants), 309 orthologues and 2 paralogues. Ubiquitous expression in lung (RPKM 21.2), testis (RPKM 16.9) and 25 other tissues.

Summary

Predicted to enable calcium activated cation channel activity; mechanosensitive ion channel activity; and osmolarity-sensing cation channel activity. Predicted to be involved in cation transmembrane transport. Located in actin Cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

TMEM63B Products (2)

mRNA Protein Name
NM_001318792.1 NP_001305721.1 CSC1-like protein 2
NM_018426.3 NP_060896.1 CSC1-like protein 2

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables mechanosensitive monoatomic cation channel activity IDA
IDA: Inferred from direct assay
38127458 GOA
enables mechanosensitive monoatomic ion channel activity IDA
IDA: Inferred from direct assay
37543036 GOA
Cellular Component GO Annotation Evidence References Source
located in alveolar lamellar body membrane IDA
IDA: Inferred from direct assay
38127458 GOA
located in early endosome membrane IDA
IDA: Inferred from direct assay
38127458 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
37543036 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM63B Protein Structure

RSN1_TM

RSN1_TM: Late exocytosis, associated with Golgi transport (119 - 225)

PHM7_cyt

PHM7_cyt: Cytosolic domain of 10TM putative phosphate transporter (275 - 343)

RSN1_7TM

RSN1_7TM: Calcium-dependent channel, 7TM region, putative phosphate (362 - 705)

  • 0
  • 200
  • 400
  • 600
  • 832 a.a.
Protein Preferred Names Protein Names

CSC1-like protein 2

Related Diseases

Diseases Alias
Gordon Holmes Syndrome

  • Cerebellar Ataxia And Hypogonadotropic Hypogonadism

  • Lhrh Deficiency And Ataxia

  • Cerebellar Ataxia-Hypogonadism Syndrome

  • GDHS

  • Cahh

  • Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

  • Gordon-Holmes Syndrome

  • Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

  • Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

  • Cerebellar Ataxia - Hypogonadism

  • Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

  • Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14733 TMEM63B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus TMEM63B VGNC VGNC:36104
Macaca mulatta TMEM63B VGNC VGNC:79084
Rattus norvegicus TMEM63B RGD RGD:1305862
Canis familiaris TMEM63B VGNC VGNC:47596
Felis catus TMEM63B VGNC VGNC:66356
Mus musculus TMEM63B MGD MGI:2387609