Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMEM50B Gene

Aliases for TMEM50B Gene

  • Transmembrane Protein 50B 2 3 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

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. An important paralog of this gene is TMEM50A.

Additional gene information for TMEM50B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM50B Gene

Genomics for TMEM50B Gene

GeneHancer (GH) Regulatory Elements for TMEM50B Gene

Promoters and enhancers for TMEM50B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I033478 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 628.4 +0.4 350 2.8 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B TMEM50B PAXBP1 C21orf59 SON GART C21orf140 DONSON CRYZL1 EXOSC3P1 IFNGR2
GH21I032769 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 149.5 +708.7 708658 3.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 PAXBP1 C21orf62-AS1 TMEM50B SON DONSON C21orf59 EVA1C MIS18A-AS1 URB1 MIS18A
GH21I032492 Enhancer 1.3 Ensembl ENCODE dbSUPER 119.1 +985.3 985331 4.6 PKNOX1 ZNF493 ZNF529 ZFP64 FEZF1 BATF ZNF48 RFX5 ZNF213 EGR1 PAXBP1 TMEM50B SCAF4 EVA1C C21orf59 URB1 MIS18A PAXBP1-AS1 C21orf62-AS1 ENSG00000238390
GH21I033539 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 67 -63.0 -62997 6.5 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 NFYC MEF2D SON GART PAXBP1 TMEM50B DONSON C21orf140 C21orf59 PAXBP1-AS1 DNAJC28 ENSG00000231355
GH21I033323 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 65.4 +154.9 154931 2.6 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 PPARGC1A MEF2D IFNAR1 PAXBP1 TMEM50B SON EVA1C C21orf59 GART CRYZL1 PAXBP1-AS1 DONSON
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM50B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM50B gene promoter:

Genomic Locations for TMEM50B Gene

Genomic Locations for TMEM50B Gene
chr21:33,432,485-33,480,011
(GRCh38/hg38)
Size:
47,527 bases
Orientation:
Minus strand
chr21:34,804,792-34,852,318
(GRCh37/hg19)

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:
    P56557-TM50B_HUMAN
    Recommended name:
    Transmembrane protein 50B
    Protein Accession:
    P56557
    Secondary Accessions:
    • B2R4L4
    • D3DSF1
    • O60537
    • Q5PY47

    Protein attributes for TMEM50B Gene

    Size:
    158 amino acids
    Molecular mass:
    17936 Da
    Quaternary structure:
    No Data Available

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

Suggested Antigen Peptide Sequences for TMEM50B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56557

UniProtKB/Swiss-Prot:

TM50B_HUMAN :
  • Belongs to the UPF0220 family.
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 --
genes like me logo Genes that share ontologies with TMEM50B: view

Phenotypes for TMEM50B Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for TMEM50B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM50B Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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 5

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:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane IDA,HDA 16780588
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM50B: view

Pathways & Interactions for TMEM50B Gene

SuperPathways for TMEM50B Gene

No Data Available

Interacting Proteins for TMEM50B Gene

Gene Ontology (GO) - Biological Process for TMEM50B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
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

Unigene Clusters for TMEM50B Gene

Transmembrane protein 50B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2:
SP3: - -

Relevant External Links for TMEM50B Gene

GeneLoc Exon Structure for
TMEM50B
ECgene alternative splicing isoforms for
TMEM50B

Expression for TMEM50B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TMEM50B Gene



NURSA nuclear receptor signaling pathways regulating expression of TMEM50B Gene:

TMEM50B

SOURCE GeneReport for Unigene cluster for TMEM50B Gene:

Hs.433668

Evidence on tissue expression from TISSUES for TMEM50B Gene

  • Lung(4.3)
  • Eye(4.1)
  • Nervous system(3.7)
  • Thyroid gland(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with TMEM50B: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TMEM50B 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 100 (a)
OneToMany
LOC100856546 33
  • 94.94 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM50B 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM50B 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM50B 33 34
  • 93.46 (n)
mouse
(Mus musculus)
Mammalia Tmem50b 33 16 34
  • 87.9 (n)
rat
(Rattus norvegicus)
Mammalia Tmem50b 33
  • 86.62 (n)
chicken
(Gallus gallus)
Aves TMEM50B 33
  • 82.59 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM50B 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem50b 33
  • 77 (n)
Str.683 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68857 33
fruit fly
(Drosophila melanogaster)
Insecta CG15012 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y74C10AL.2 33 34
  • 56.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToMany
Species where no ortholog for TMEM50B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

ENSEMBL:
Gene Tree for TMEM50B (if available)
TreeFam:
Gene Tree for TMEM50B (if available)

Paralogs for TMEM50B Gene

Paralogs for TMEM50B Gene

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

Pseudogenes.org Pseudogenes for TMEM50B Gene

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

Variants for TMEM50B Gene

Sequence variations from dbSNP and Humsavar for TMEM50B Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs17885407 likely-benign, Immunodeficiency 28 33,436,926(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs193922682 uncertain-significance, Interferon gamma receptor deficiency 33,432,890(-) C/ genic_downstream_transcript_variant, intron_variant
rs41351148 benign, Immunodeficiency 28 33,432,343(-) T/C downstream_transcript_variant
rs587776823 pathogenic, Immunodeficiency 28 33,432,275(-) AAGTAACATCTTTAGAGTCGGGCATTTAAG/AAG downstream_transcript_variant
rs121913211 not-provided, not provided 33,432,084(-) C/T downstream_transcript_variant

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
TMEM50B

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

Disorders for TMEM50B Gene

Additional Disease Information for TMEM50B

No disorders were found for TMEM50B Gene.

No data available for MalaCards , 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 58
  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 58
  3. Comparative genomic analysis of the interferon/interleukin-10 receptor gene cluster. (PMID: 10077530) Reboul J … Lutfalla G (Genome research 1999) 3 4 58
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld CA … Koellinger PD (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 58
  5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PMID: 23128233) Jostins L … Cho JH (Nature 2012) 3 58

Products for TMEM50B Gene

Sources for TMEM50B Gene

Content
Loading form....