Aliases for TMEM50B Gene

Aliases for TMEM50B Gene

  • Transmembrane Protein 50B 2 3 4 5
  • HCV P7-Trans-Regulated Protein 3 3 4
  • C21orf4 3 4
  • Chromosome 21 Open Reading Frame 4 2
  • HCV P7-Transregulated Protein 3 3
  • HCVP7TP3 3
  • TMEM50B 5

External Ids for TMEM50B Gene

Previous HGNC Symbols for TMEM50B Gene

  • C21orf4

Previous GeneCards Identifiers for TMEM50B Gene

  • GC21M033727
  • GC21M033743
  • GC21M034804
  • GC21M020291

Summaries for TMEM50B Gene

GeneCards Summary for TMEM50B Gene

TMEM50B (Transmembrane Protein 50B) is a Protein Coding gene. Diseases associated with TMEM50B include Immunodeficiency 28 and Retinitis Pigmentosa 58. An important paralog of this gene is TMEM50A.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM50B Gene

Genomics for TMEM50B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM50B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM50B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM50B

Top Transcription factor binding sites by QIAGEN in the TMEM50B gene promoter:
  • AhR
  • Arnt
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • Nkx2-2
  • Nkx2-5

Genomic Locations for TMEM50B Gene

Latest Assembly
47,520 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
47,489 bases
Minus strand

(GRCh37/hg19 by Ensembl)
47,527 bases
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr21(ALT_REF_LOCI_1):27,058-84,103 (-)

Genomic View for TMEM50B Gene

Genes around TMEM50B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM50B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM50B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM50B Gene

Proteins for TMEM50B Gene

  • Protein details for TMEM50B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane protein 50B
    Protein Accession:
    Secondary Accessions:
    • B2R4L4
    • D3DSF1
    • O60537
    • Q5PY47

    Protein attributes for TMEM50B Gene

    158 amino acids
    Molecular mass:
    17936 Da
    Quaternary structure:
    • May form homotrimers or homodimers.

neXtProt entry for TMEM50B Gene

Post-translational modifications for TMEM50B Gene

No Post-translational modifications

Other Protein References for TMEM50B Gene

No data available for DME Specific Peptides for TMEM50B Gene

Domains & Families for TMEM50B Gene

Gene Families for TMEM50B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM50B Gene

  • Protein of unknown function UPF0220

Suggested Antigen Peptide Sequences for TMEM50B Gene

GenScript: Design optimal peptide antigens:
  • HCV p7-trans-regulated protein 3 (TM50B_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0220 family.
  • Belongs to the UPF0220 family.
genes like me logo Genes that share domains with TMEM50B: view

Function for TMEM50B Gene

Phenotypes From GWAS Catalog for TMEM50B Gene

Gene Ontology (GO) - Molecular Function for TMEM50B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with TMEM50B: view
genes like me logo Genes that share phenotypes with TMEM50B: view

Animal Models for TMEM50B Gene

MGI Knock Outs for TMEM50B:
  • Tmem50b Tmem50b<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for TMEM50B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM50B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM50B Gene

Localization for TMEM50B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM50B Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Golgi apparatus membrane. Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM50B gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 3
cytoskeleton 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM50B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane HDA 16780588
genes like me logo Genes that share ontologies with TMEM50B: view

Pathways & Interactions for TMEM50B Gene

PathCards logo

SuperPathways for TMEM50B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM50B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0032511 late endosome to vacuole transport via multivesicular body sorting pathway IBA 21873635
genes like me logo Genes that share ontologies with TMEM50B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM50B Gene

Drugs & Compounds for TMEM50B Gene

No Compound Related Data Available

Transcripts for TMEM50B Gene

mRNA/cDNA for TMEM50B Gene

16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM50B

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM50B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP3: - -

Relevant External Links for TMEM50B Gene

GeneLoc Exon Structure for

Expression for TMEM50B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM50B Gene

Protein differential expression in normal tissues from HIPED for TMEM50B Gene

This gene is overexpressed in Retina (18.1), Testis (14.3), and Frontal cortex (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM50B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM50B

SOURCE GeneReport for Unigene cluster for TMEM50B Gene:


Evidence on tissue expression from TISSUES for TMEM50B Gene

  • Lung(4.3)
  • Eye(4.1)
  • Nervous system(3.9)
  • Thyroid gland(2.5)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with TMEM50B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM50B Gene

Orthologs for TMEM50B Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM50B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMEM50B 29 30
  • 100 (n)
(Canis familiaris)
Mammalia -- 30
  • 100 (a)
-- 30
  • 100 (a)
LOC100856546 29
  • 94.94 (n)
(Monodelphis domestica)
Mammalia TMEM50B 30
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia TMEM50B 30
  • 95 (a)
(Bos Taurus)
Mammalia TMEM50B 29 30
  • 93.46 (n)
(Mus musculus)
Mammalia Tmem50b 29 16 30
  • 87.9 (n)
(Rattus norvegicus)
Mammalia Tmem50b 29
  • 86.62 (n)
(Gallus gallus)
Aves TMEM50B 29
  • 82.59 (n)
(Anolis carolinensis)
Reptilia TMEM50B 30
  • 85 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem50b 29
  • 77 (n)
Str.683 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68857 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG15012 30
  • 35 (a)
(Caenorhabditis elegans)
Secernentea Y74C10AL.2 29 30
  • 56.64 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 65 (a)
Species where no ortholog for TMEM50B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for TMEM50B Gene

Gene Tree for TMEM50B (if available)
Gene Tree for TMEM50B (if available)
Evolutionary constrained regions (ECRs) for TMEM50B: view image
Alliance of Genome Resources:
Additional Orthologs for TMEM50B

Paralogs for TMEM50B Gene

Paralogs for TMEM50B Gene

(2) SIMAP similar genes for TMEM50B Gene using alignment to 4 proteins:

  • C9K0I4_HUMAN
  • F8WDH1_HUMAN Pseudogenes for TMEM50B Gene

genes like me logo Genes that share paralogs with TMEM50B: view

Variants for TMEM50B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM50B Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
1046008 Uncertain Significance: Immunodeficiency 28 33,436,936(-) CAAG/C
NM_005534.4(IFNGR2):c.990AGA[1] (p.Glu331del)
840029 Uncertain Significance: Immunodeficiency 28 33,436,897(-) T/C
NM_005534.4(IFNGR2):c.949T>C (p.Trp317Arg)
840030 Uncertain Significance: Immunodeficiency 28 33,432,875(-) C/T
842557 Uncertain Significance: Immunodeficiency 28 33,436,954(-) A/G
NM_005534.4(IFNGR2):c.1006A>G (p.Thr336Ala)
916343 Likely Benign: not provided 33,436,893(-) C/T
NM_005534.4(IFNGR2):c.945C>T (p.Asp315=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM50B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TMEM50B Gene

Variant ID Type Subtype PubMed ID
dgv7819n54 CNV loss 21841781
esv1009907 CNV insertion 20482838
esv1700579 CNV insertion 17803354
esv3557650 CNV deletion 23714750
esv3893406 CNV loss 25118596
nsv1139017 CNV deletion 24896259
nsv191 CNV insertion 15895083
nsv3497 CNV insertion 18451855
nsv479869 CNV novel sequence insertion 20440878
nsv509795 CNV insertion 20534489
nsv524420 CNV loss 19592680
nsv528264 CNV gain 19592680
nsv587396 CNV loss 21841781
nsv834087 CNV gain 17160897

Variation tolerance for TMEM50B Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM50B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM50B Gene

Disorders for TMEM50B Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM50B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
immunodeficiency 28
  • imd28
retinitis pigmentosa 58
  • rp58
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM50B

genes like me logo Genes that share disorders with TMEM50B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM50B Gene

Publications for TMEM50B Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  3. Comparative genomic analysis of the interferon/interleukin-10 receptor gene cluster. (PMID: 10077530) Reboul J … Lutfalla G (Genome research 1999) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. (PMID: 33001583) Mao CG … Deng B (Thoracic cancer 2020) 3

Products for TMEM50B Gene

Sources for TMEM50B Gene