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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

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. 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
GH21J033539 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 656 -63.1 -63063 6.7 HDGF SP1 ZFX CC2D1A ELF3 ZNF148 NKRF POLR2A MLLT1 ZNF121 SON TMEM50B GART PAXBP1 DONSON CFAP298 FAM243A PAXBP1-AS1 DNAJC28 ENSG00000231355
GH21J033478 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 689.9 +0.3 308 4.2 SP1 ZNF652 ZFX ZNF148 NKRF POLR2A ZNF121 GTF2F1 CSDE1 ZNF687 TMEM50B PAXBP1 DONSON CFAP298 SON GART FAM243A CRYZL1 EXOSC3P1 SMIM34A
GH21J032769 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 132.2 +708.7 708659 3.9 ZNF473 SP1 ELF3 CC2D1A ZFX CTCF MNT SIX5 ZNF148 NKRF PAXBP1 C21orf62-AS1 TMEM50B SON DONSON CFAP298 EVA1C URB1 MIS18A GART
GH21J032492 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 93.5 +985.3 985329 4.6 EGR1 ZNF680 ZNF560 ZBTB8A PRDM12 PKNOX1 ZNF629 ZNF140 RBAK JUN PAXBP1 TMEM50B SCAF4 EVA1C URB1 CFAP298 MIS18A C21orf62-AS1 ENSG00000238390 ENSG00000252045
GH21J033640 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 60.2 -162.9 -162919 5.5 HDGF MTA3 SP1 ZFX SIX5 ZNF148 NKRF POLR2A ZNF121 CEBPG CRYZL1 ITSN1 TMEM50B PAXBP1 DONSON FAM243A GART SON SMIM34A GC21P033513
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for TMEM50B Gene
chr21:33,432,485-33,480,009
(GRCh38/hg38)
Size:
47,525 bases
Orientation:
Minus strand
chr21:34,804,792-34,852,318
(GRCh37/hg19)
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:
    • 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

Blocks:
InterPro:
ProtoNet:

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

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
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 Model Products

  • Taconic Biosciences Mouse Models for TMEM50B

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for TMEM50B - Now 50% OFF >
  • * TMEM50B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TMEM50B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

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
endoplasmic reticulum 4
plasma membrane 3
golgi apparatus 3

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

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 --
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

Unigene Clusters for TMEM50B Gene

Transmembrane protein 50B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for TMEM50B - Now 50% OFF >
  • * TMEM50B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TMEM50B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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, 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

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
dog
(Canis familiaris)
Mammalia -- 35
  • 100 (a)
OneToMany
-- 35
  • 100 (a)
OneToMany
LOC100856546 34
  • 94.94 (n)
chimpanzee
(Pan troglodytes)
Mammalia TMEM50B 35 34
  • 100 (n)
OneToOne
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 35 17
  • 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 35 34
  • 56.64 (n)
OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM50B: view image

Paralogs for TMEM50B Gene

Paralogs for TMEM50B Gene

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

  • TM50B_HUMAN
  • C9K0I4_HUMAN
  • F8WBF4_HUMAN
  • F8WDH1_HUMAN

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
rs121913220 not-provided, benign, not provided, Immunodeficiency 28 33,436,932(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs149173957 likely-benign, Disseminated atypical mycobacterial infection 33,432,210(-) T/C downstream_transcript_variant
rs17885407 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

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

MalaCards: The human disease database

(1) MalaCards diseases for TMEM50B Gene - From: GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 28
  • imd28
- 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 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. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 58
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58

Products for TMEM50B Gene

Sources for TMEM50B Gene

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