TMEM50B - transmembrane protein 50B Gene

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

TMEM50B Protein Structure

UPF0220

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

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