TMEM50B - transmembrane protein 50B Gene

Also Known as C21orf4; HCVP7TP3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 757

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
Molecular Function GO Annotation Evidence References 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

TMEM50B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TMEM50B P56557 GPX8 Homo sapiens Q8TED1 32296183
Intra
TMEM50B P56557 GPX8 Homo sapiens Q8TED1 32296183
Intra
TMEM50B P56557 GPX8 Homo sapiens Q8TED1 32296183
Intra
TMEM50B P56557 FXYD3 Homo sapiens Q14802-3 32296183
Intra
TMEM50B P56557 FXYD3 Homo sapiens Q14802-3 32296183
Intra
TMEM50B P56557 FXYD3 Homo sapiens Q14802-3 32296183
Intra
TMEM50B P56557 SLC16A13 Homo sapiens Q7RTY0 32296183
Intra
TMEM50B P56557 SLC16A13 Homo sapiens Q7RTY0 32296183
Intra
TMEM50B P56557 SLC16A13 Homo sapiens Q7RTY0 32296183
Intra
TMEM50B P56557 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TMEM50B P56557 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TMEM50B P56557 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TMEM50B P56557 LEPROT Homo sapiens O15243 32296183
Intra
TMEM50B P56557 TMEM88 Homo sapiens Q6PEY1 32296183
Intra
TMEM50B P56557 TMEM88 Homo sapiens Q6PEY1 32296183
Intra
TMEM50B P56557 TMEM88 Homo sapiens Q6PEY1 32296183
Intra
TMEM50B P56557 SCN3B Homo sapiens Q9NY72 32296183
Intra
TMEM50B P56557 SCN3B Homo sapiens Q9NY72 32296183
Intra
TMEM50B P56557 SCN3B Homo sapiens Q9NY72 32296183
Intra
TMEM50B P56557 CLRN1 Homo sapiens P58418 32296183
Intra
TMEM50B P56557 CLRN1 Homo sapiens P58418 32296183
Intra
TMEM50B P56557 CLRN1 Homo sapiens P58418 32296183
Intra
TMEM50B P56557 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
TMEM50B P56557 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
TMEM50B P56557 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
TMEM50B P56557 HLA-DPA1 Homo sapiens Q95HB9 32296183
Intra
TMEM50B P56557 HLA-DPA1 Homo sapiens Q95HB9 32296183
Intra
TMEM50B P56557 HLA-DPA1 Homo sapiens Q95HB9 32296183
Intra
TMEM50B P56557 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
TMEM50B P56557 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
TMEM50B P56557 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
TMEM50B P56557 TMEM52B Homo sapiens Q4KMG9 32296183
Intra
TMEM50B P56557 TMEM52B Homo sapiens Q4KMG9 32296183
Intra
TMEM50B P56557 TMEM52B Homo sapiens Q4KMG9 32296183
Intra
TMEM50B P56557 FAM209A Homo sapiens Q5JX71 32296183
Intra
TMEM50B P56557 FAM209A Homo sapiens Q5JX71 32296183
Intra
TMEM50B P56557 FAM209A Homo sapiens Q5JX71 32296183
Intra
TMEM50B P56557 AMIGO1 Homo sapiens Q86WK6 32296183
Intra
TMEM50B P56557 AMIGO1 Homo sapiens Q86WK6 32296183
Intra
TMEM50B P56557 AMIGO1 Homo sapiens Q86WK6 32296183
Intra
TMEM50B P56557 NCR1 Homo sapiens O76036-6 32296183
Intra
TMEM50B P56557 NCR1 Homo sapiens O76036-6 32296183
Intra
TMEM50B P56557 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
TMEM50B P56557 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
TMEM50B P56557 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
TMEM50B P56557 EDA Homo sapiens Q92838 32296183
Intra
TMEM50B P56557 EDA Homo sapiens Q92838 32296183
Intra
TMEM50B P56557 EDA Homo sapiens Q92838 32296183
Intra
TMEM50B P56557 TMX2 Homo sapiens Q9Y320 32296183
Intra
TMEM50B P56557 TMX2 Homo sapiens Q9Y320 32296183
Intra
TMEM50B P56557 TMX2 Homo sapiens Q9Y320 32296183
Intra
TMEM50B P56557 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
TMEM50B P56557 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
TMEM50B P56557 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
TMEM50B P56557 BCL2L1 Homo sapiens Q07817 32296183
Intra
TMEM50B P56557 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
TMEM50B P56557 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
TMEM50B P56557 TMEM14B Homo sapiens Q9NUH8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others TMEM50B NCBI