2. Gene
  3. TMEM50B - transmembrane protein 50B Gene

TMEM50B - transmembrane protein 50B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as C21orf4; HCVP7TP3

Gene ID: 757 | Gene type: protein coding

About TMEM50B

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,432,486-33,479,974 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 175 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 53.6), gall bladder (RPKM 21.3) and 24 other tissues.

Summary

Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

TMEM50B Products(1)

mRNA Protein Name
NM_006134.7 NP_006125.2 transmembrane protein 50B
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

TMEM50B Protein Structure

UPF0220

UPF0220: Uncharacterised protein family (UPF0220) (1 - 157)

  • 0
  • 100
  • 158 a.a.
Protein Preferred Names Protein Names

transmembrane protein 50B

HCV p7-trans-regulated protein 3

Related Diseases

Diseases Alias
Immunodeficiency 28

IMD28

Ifngr2 Deficiency

Immunodeficiency 28, Mycobacteriosis, Autosomal Recessive

Immunodeficiency 28, Mycobacteriosis

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 2 Deficiency

Msmd Due To Complete Ifngammar2 Deficiency

Msmd Due To Complete Interferon Gamma Receptor 2 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency

Autosomal Recessive Msmd Due To Partial Ifngammar2 Deficiency

Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 2 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 2 Deficiency

Immunodeficiency, Type 28, Mycobacteriosis
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14729 TMEM50B Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TMEM50B RGD RGD:1307561
Felis catus TMEM50B VGNC VGNC:66350
Bos taurus TMEM50B VGNC VGNC:36093
Macaca mulatta TMEM50B VGNC VGNC:84756
Mus musculus TMEM50B MGD MGI:1925225