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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

Additional gene information for TMEM50A Gene

No data available for CIViC summary , 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 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
GH01H025559 1.4 Ensembl ENCODE dbSUPER 4.7 +223.9 223905 4 HDAC1 HDGF PTBP1 ZNF473 KLF17 ATF7 RUNX3 IKZF2 SMARCA5 ZEB2 LDLRAP1 LOC101928324 ENSG00000233478 LIN28A ENSG00000225643 SDHDP6 TMEM50A
GH01H024534 1.4 Ensembl ENCODE dbSUPER 4.7 -801.4 -801370 3.5 PKNOX1 ATF1 BATF EGR1 SCRT2 ATF7 ETV6 RUNX3 IKZF2 CREM RCAN3 NIPAL3 STPG1 TMEM50A GC01P024539 GC01P024538 GC01M024529
GH01H025371 1 Ensembl ENCODE dbSUPER 6 +33.8 33832 1.5 ZNF362 JUND ZBTB33 RHCE TMEM50A PIR39713 SDHDP7 GC01P025345
GH01H024539 1.2 ENCODE dbSUPER 4.5 -796.9 -796883 2.7 PKNOX1 FOXA2 ARID4B ZNF143 FOS REST PPARG NFIL3 SMARCA4 HNF4A RCAN3 NIPAL3 TMEM50A GC01P024538 GC01P024539 LOC100506985
GH01H025369 0.9 dbSUPER 5.7 +32.4 32378 1.2 HDAC1 PKNOX1 ATF1 ARNT CHAMP1 TCF12 ZNF766 EGR1 ATF7 SMARCA5 TMEM50A GC01P025345 PIR39713 SDHDP7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000003349 183 3801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SP3 REST

Genomic Locations for TMEM50A Gene

Genomic Locations for TMEM50A Gene
24,445 bases
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:
    Recommended name:
    Transmembrane protein 50A
    Protein Accession:

    Protein attributes for TMEM50A Gene

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

neXtProt entry for TMEM50A Gene

Post-translational modifications for TMEM50A Gene

  • Ubiquitination at Lys19
  • 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

Gene Families for TMEM50A Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM50A Gene

Suggested Antigen Peptide Sequences for TMEM50A Gene

GenScript: Design optimal peptide antigens:

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 TMEM50A: view

Function for TMEM50A Gene

Phenotypes From GWAS Catalog for TMEM50A Gene

Phenotypes for TMEM50A Gene

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

Animal Model Products

CRISPR Products

miRNA for TMEM50A Gene

miRTarBase miRNAs that target TMEM50A

Inhibitory RNA Products

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

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 TMEM50A gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM50A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0016020 membrane IEA --
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

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
Selected Interacting proteins: ENSP00000363478 O95807-TM50A_HUMAN for TMEM50A Gene via STRING IID

Gene Ontology (GO) - Biological Process for TMEM50A Gene


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:

CRISPR Products

Inhibitory RNA Products

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

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

Relevant External Links for TMEM50A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMEM50A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TMEM50A Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM50A Gene:


SOURCE GeneReport for Unigene cluster for TMEM50A Gene:


Evidence on tissue expression from TISSUES for TMEM50A Gene

  • Nervous system(5)
  • Pancreas(4.5)
  • Lung(3.4)
  • Kidney(3)
  • Skin(3)
  • Liver(2.6)
  • Eye(2.4)
  • Intestine(2.1)
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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia TMEM50A 33 34
  • 99.79 (n)
(Ornithorhynchus anatinus)
Mammalia TMEM50A 34
  • 94 (a)
(Canis familiaris)
Mammalia TMEM50A 33 34
  • 93.84 (n)
(Monodelphis domestica)
Mammalia TMEM50A 34
  • 93 (a)
(Bos Taurus)
Mammalia TMEM50A 33 34
  • 92.36 (n)
(Rattus norvegicus)
Mammalia Tmem50a 33
  • 86.2 (n)
(Mus musculus)
Mammalia Tmem50a 33 16 34
  • 85.14 (n)
(Gallus gallus)
Aves TMEM50A 33
  • 82.38 (n)
(Anolis carolinensis)
Reptilia TMEM50A 34
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem50a 33
  • 79.41 (n)
Str.10893 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24050 33
(Danio rerio)
Actinopterygii tmem50a 33 34
  • 76.65 (n)
Dr.6908 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005380 33
  • 51.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15012 33 34
  • 48.44 (n)
(Caenorhabditis elegans)
Secernentea Y74C10AL.2 34
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
Species where no ortholog for TMEM50A was found in the sources mined by GeneCards:
  • 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

Gene Tree for TMEM50A (if available)
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
rs1000082818 -- 25,343,450(+) GAAAA(A/G)TCCAT intron-variant
rs1000357511 -- 25,338,456(+) CTGGA(C/G)GTAAG upstream-variant-2KB, utr-variant-5-prime
rs1000392276 -- 25,338,618(+) CTCCT(C/G)TCCTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000414200 -- 25,344,860(+) TTTCC(C/T)AGAGT intron-variant
rs1000479135 -- 25,343,144(+) GTTGC(A/G)TAGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9768 CNV gain+loss 18304495
nsv945833 CNV duplication 23825009
nsv834480 CNV gain 17160897
nsv834469 CNV gain+loss 17160897
nsv822154 CNV gain 20364138
nsv822143 CNV loss 20364138
nsv821617 CNV loss 15273396
nsv821372 CNV deletion 20802225
nsv7298 CNV deletion 18451855
nsv7174 OTHER inversion 18451855
nsv545843 CNV loss 21841781
nsv499798 OTHER inversion 21111241
nsv482037 CNV gain 20164927
nsv232 CNV deletion 15895083
nsv1010001 CNV gain 25217958
nsv1009831 CNV gain 25217958
esv996331 CNV gain 20482838
esv3585525 CNV gain 21293372
esv3585524 CNV gain 21293372
esv3576582 CNV gain 25503493
esv32921 CNV gain+loss 17666407
esv28510 CNV gain+loss 19812545
esv2762632 CNV gain+loss 21179565
esv22615 CNV gain+loss 19812545
dgv3e180 CNV gain 20482838
dgv209n54 CNV loss 21841781
dgv201n54 CNV loss 21841781
dgv141n100 CNV loss 25217958
dgv140n100 CNV gain 25217958
dgv137n100 CNV gain+loss 25217958
dgv133n100 CNV gain 25217958
dgv132n100 CNV gain 25217958

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)

Relevant External Links for TMEM50A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM50A Gene

Disorders for TMEM50A Gene

Relevant External Links for TMEM50A

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

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 FF … Flegel WA (Blood 2000) 2 3 22 60
  2. Molecular genetics of RH. (PMID: 10938938) Flegel WA … Wagner FF (Vox sanguinis 2000) 2 3 22 60
  3. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (PMID: 21700265) Kullo IJ … Chute CG (American journal of human genetics 2011) 3 45 60
  4. 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 60
  5. 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 60

Products for TMEM50A Gene

Sources for TMEM50A Gene

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