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Aliases for TMEM50A Gene

Aliases for TMEM50A Gene

  • Transmembrane Protein 50A 2 3 5
  • Small Membrane Protein 1 2 3 4
  • SMP1 3 4
  • Cervical Cancer Oncogene 9 3
  • IFNRC 3

External Ids for TMEM50A Gene

Previous GeneCards Identifiers for TMEM50A Gene

  • GC01P025411
  • GC01P025536
  • GC01P025665
  • GC01P023918

Summaries for TMEM50A Gene

Entrez Gene Summary for TMEM50A Gene

  • This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008]

GeneCards Summary for TMEM50A Gene

TMEM50A (Transmembrane Protein 50A) is a Protein Coding gene. An important paralog of this gene is TMEM50B.

Gene Wiki entry for TMEM50A Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM50A Gene

Genomics for TMEM50A Gene

Regulatory Elements for TMEM50A Gene

Enhancers for TMEM50A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMEM50A on UCSC Golden Path with GeneCards custom track

Promoters for TMEM50A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM50A on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM50A Gene

Chromosome:
1
Start:
25,337,917 bp from pter
End:
25,362,361 bp from pter
Size:
24,445 bases
Orientation:
Plus strand

Genomic View for TMEM50A Gene

Genes around TMEM50A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM50A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM50A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM50A Gene

Proteins for TMEM50A Gene

  • Protein details for TMEM50A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95807-TM50A_HUMAN
    Recommended name:
    Transmembrane protein 50A
    Protein Accession:
    O95807

    Protein attributes for TMEM50A Gene

    Size:
    157 amino acids
    Molecular mass:
    17400 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM50A Gene

Proteomics data for TMEM50A Gene at MOPED

Post-translational modifications for TMEM50A Gene

  • Ubiquitination at Lys 19
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM50A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM50A Gene

Domains & Families for TMEM50A Gene

Protein Domains for TMEM50A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM50A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95807

UniProtKB/Swiss-Prot:

TM50A_HUMAN :
  • Belongs to the UPF0220 family.
Family:
  • Belongs to the UPF0220 family.
genes like me logo Genes that share domains with TMEM50A: view

No data available for Gene Families for TMEM50A Gene

Function for TMEM50A Gene

Phenotypes for TMEM50A Gene

GenomeRNAi human phenotypes for TMEM50A:
genes like me logo Genes that share phenotypes with TMEM50A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM50A

CRISPR Products

miRNA for TMEM50A Gene

miRTarBase miRNAs that target TMEM50A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM50A Gene

Localization for TMEM50A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM50A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM50A Gene COMPARTMENTS Subcellular localization image for TMEM50A gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for TMEM50A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM50A: view

Pathways & Interactions for TMEM50A Gene

SuperPathways for TMEM50A Gene

No Data Available

Interacting Proteins for TMEM50A Gene

Gene Ontology (GO) - Biological Process for TMEM50A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM50A Gene

Drugs & Compounds for TMEM50A Gene

No Compound Related Data Available

Transcripts for TMEM50A Gene

Unigene Clusters for TMEM50A Gene

Transmembrane protein 50A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM50A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1:
SP2: - - -
SP3: -
SP4: -

Relevant External Links for TMEM50A Gene

GeneLoc Exon Structure for
TMEM50A
ECgene alternative splicing isoforms for
TMEM50A

Expression for TMEM50A Gene

mRNA expression in normal human tissues for TMEM50A Gene

Protein differential expression in normal tissues from HIPED for TMEM50A Gene

This gene is overexpressed in Liver (23.3), Platelet (14.8), and Adrenal (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM50A Gene



SOURCE GeneReport for Unigene cluster for TMEM50A Gene Hs.705699

genes like me logo Genes that share expression patterns with TMEM50A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TMEM50A Gene

Orthologs for TMEM50A Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM50A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM50A 35
  • 92.36 (n)
  • 96.18 (a)
TMEM50A 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM50A 35
  • 93.84 (n)
  • 96.82 (a)
TMEM50A 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem50a 35
  • 85.14 (n)
  • 94.27 (a)
Tmem50a 16
Tmem50a 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM50A 35
  • 99.79 (n)
  • 99.36 (a)
TMEM50A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem50a 35
  • 86.2 (n)
  • 94.27 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM50A 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM50A 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM50A 35
  • 82.38 (n)
  • 93.63 (a)
lizard
(Anolis carolinensis)
Reptilia TMEM50A 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10893 35
tmem50a 35
  • 79.41 (n)
  • 87.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24050 35
zebrafish
(Danio rerio)
Actinopterygii Dr.6908 35
tmem50a 35
  • 76.65 (n)
  • 87.26 (a)
tmem50a 36
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005380 35
  • 51.8 (n)
  • 41.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15012 35
  • 48.44 (n)
  • 40 (a)
CG15012 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y74C10AL.2 36
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
Species with no ortholog for TMEM50A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)

Evolution for TMEM50A Gene

ENSEMBL:
Gene Tree for TMEM50A (if available)
TreeFam:
Gene Tree for TMEM50A (if available)

Paralogs for TMEM50A Gene

Paralogs for TMEM50A Gene

(2) SIMAP similar genes for TMEM50A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMEM50A: view

Variants for TMEM50A Gene

Sequence variations from dbSNP and Humsavar for TMEM50A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_007851 -
rs3093647 - 25,343,040(+) CCATG(C/T)CTGTG reference, missense
rs3091240 -- 25,350,444(+) GAATC(G/T)CAGTG intron-variant
rs3091241 -- 25,348,422(+) TGGCT(C/T)ACGCC intron-variant
rs3091242 -- 25,348,294(+) AATGA(C/T)TTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM50A Gene

Variant ID Type Subtype PubMed ID
nsv7298 CNV Loss 18451855
nsv232 CNV Loss 15895083
nsv834469 CNV Gain+Loss 17160897
nsv9768 CNV Gain+Loss 18304495
nsv822143 CNV Loss 20364138
nsv821372 CNV Deletion 20802225
esv22615 CNV Gain+Loss 19812545
esv32921 CNV Gain+Loss 17666407
dgv3e180 CNV Gain 20482838
nsv7174 OTHER Inversion 18451855
nsv822154 CNV Gain 20364138
nsv821617 CNV Loss 15273396
nsv834480 CNV Gain 17160897
nsv499798 OTHER Inversion 21111241
nsv870470 CNV Gain 21882294
dgv200n71 CNV Gain 21882294
nsv870798 CNV Gain 21882294
nsv870522 CNV Loss 21882294
nsv871967 CNV Gain 21882294
nsv870477 CNV Gain 21882294
esv996331 CNV Gain 20482838
esv28510 CNV Gain+Loss 19812545
nsv482037 CNV Gain 20164927

Variation tolerance for TMEM50A Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 25.96% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TMEM50A Gene

Disorders for TMEM50A Gene

Relevant External Links for TMEM50A

Genetic Association Database (GAD)
TMEM50A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM50A

No disorders were found for TMEM50A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM50A Gene

Publications for TMEM50A Gene

  1. RHD gene deletion occurred in the Rhesus box. (PMID: 10845894) Wagner F.F. … Flegel W.A. (Blood 2000) 2 3 23 67
  2. Molecular genetics of RH. (PMID: 10938938) Flegel W.A. … Wagner F.F. (Vox Sang. 2000) 2 3 23
  3. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (PMID: 21700265) Kullo I.J. … Chute C.G. (Am. J. Hum. Genet. 2011) 3
  4. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3
  5. Molecular genetics of RH and its clinical application. (PMID: 16563832) Flegel W.A. (Transfus Clin Biol 2006) 23

Products for TMEM50A Gene

Sources for TMEM50A Gene

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