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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.

No data available for Entrez Gene 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

Regulatory Elements for TMEM50B Gene

Enhancers for TMEM50B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F033445 1.5 FANTOM5 Ensembl ENCODE 56.1 +34.4 34413 1.2 HDGF ARID4B GTF3C2 ZNF143 REST KAT8 NFIL3 MIER3 ZNF610 RCOR2 TMEM50B OLIG1 LOC388820 OLIG2 IFNGR2
GH21F033432 1.2 Ensembl ENCODE 67.8 +45.7 45729 3.0 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A ZBTB40 ZNF121 ETV6 RCOR1 TMEM50B RPS5P3 IFNAR2 DNAJC28 LINC01548 IFNGR2
GH21F033440 1.2 Ensembl ENCODE 56.1 +37.7 37695 2.9 HDGF PKNOX1 TBL1XR1 INSM2 ZNF76 KLF17 PTRF YBX1 FEZF1 ZEB1 TMEM50B IFNGR2 LOC388820
GH21F033478 1.1 ENCODE 53.5 +0.4 350 2.8 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 TMEM50B CRYZL1 C21orf140 EXOSC3P1 IFNGR2
GH21F033410 1.2 Ensembl ENCODE 47.7 +67.2 67222 4.8 PKNOX1 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF121 SP5 MXD4 TMEM50B IFNGR2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM50B on UCSC Golden Path with GeneCards custom track

Promoters for TMEM50B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000612958 311 3001 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3

Genomic Location for TMEM50B Gene

Chromosome:
21
Start:
33,432,485 bp from pter
End:
33,480,011 bp from pter
Size:
47,527 bases
Orientation:
Minus strand

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

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

No data available for Gene Families for TMEM50B Gene

Function 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

  • Taconic Biosciences Mouse Models for TMEM50B

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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 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

Transcripts for TMEM50B Gene

Unigene Clusters for TMEM50B Gene

Transmembrane protein 50B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 100 (a)
OneToMany
-- 35
  • 100 (a)
OneToMany
LOC100856546 34
  • 94.94 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM50B 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM50B 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM50B 34 35
  • 93.46 (n)
mouse
(Mus musculus)
Mammalia Tmem50b 34 16 35
  • 87.9 (n)
rat
(Rattus norvegicus)
Mammalia Tmem50b 34
  • 86.62 (n)
chicken
(Gallus gallus)
Aves TMEM50B 34
  • 82.59 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM50B 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem50b 34
  • 77 (n)
Str.683 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68857 34
fruit fly
(Drosophila melanogaster)
Insecta CG15012 35
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y74C10AL.2 34 35
  • 56.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs587776823 Pathogenic 33,432,278(+) AAAAG(-/TAACATCTTTAGAGTCGGGCATTTAAG)CAACA downstream-variant-500B, cds-indel
rs193922682 Uncertain significance 33,432,890(+) CATCT(-/C)TTTTT intron-variant
rs121913211 untested 33,432,084(+) GTTGT(C/T)GTGTT intron-variant, downstream-variant-500B
rs121913212 untested 33,432,323(+) TACGA(A/T)ACAAT downstream-variant-500B, reference, missense
rs121913213 untested 33,432,425(+) ATGGG(C/T)GGTGG intron-variant, downstream-variant-500B

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

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

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)

Relevant External Links 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

Relevant External Links for TMEM50B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  3. Comparative genomic analysis of the interferon/interleukin-10 receptor gene cluster. (PMID: 10077530) Reboul J. … Lutfalla G. (Genome Res. 1999) 3 4 64
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 64
  5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PMID: 23128233) Jostins L. … Cho J.H. (Nature 2012) 3 64

Products for TMEM50B Gene

Sources for TMEM50B Gene

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