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    TMEM200A transmembrane protein 200A [ Homo sapiens (human) ]

    Gene ID: 114801, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM200Aprovided by HGNC
    Official Full Name
    transmembrane protein 200Aprovided by HGNC
    Primary source
    HGNC:HGNC:21075
    See related
    Ensembl:ENSG00000164484 AllianceGenome:HGNC:21075
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TTMA; TTMC; KIAA1913
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in endometrium (RPKM 12.2), adrenal (RPKM 5.0) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM200A in Genome Data Viewer
    Location:
    6q23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (130365531..130443067)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (131560183..131637851)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (130687162..130764212)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25053 Neighboring gene L3MBTL histone methyl-lysine binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25055 Neighboring gene NANOG hESC enhancer GRCh37_chr6:130473790-130474410 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:130498512-130498711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25056 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:130515807-130516307 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:130518767-130519347 Neighboring gene sterile alpha motif domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25059 Neighboring gene uncharacterized LOC112267974 Neighboring gene MPRA-validated peak6122 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25060 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:130838308-130839507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17540 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:130923105-130924304 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:130935046-130936245 Neighboring gene Sharpr-MPRA regulatory region 149 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:130953902-130954652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131022881-131023397 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131032856-131033370 Neighboring gene uncharacterized LOC105378002 Neighboring gene uncharacterized LOC105378003

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TMEM200A is a potential prognostic biomarker and correlated with immune infiltrates in gastric cancer. Fang F, et al. PeerJ, 2023. PMID 37404478, Free PMC Article
    2. High expression of TMEM200A is associated with a poor prognosis and immune infiltration in gastric cancer. Deng H, et al. Pathol Oncol Res, 2023. PMID 36741965, Free PMC Article
    3. No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk. Du M, et al. Cancer Epidemiol Biomarkers Prev, 2014 Dec. PMID 25192705, Free PMC Article
    4. Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18. Pickard BS, et al. Psychiatr Genet, 2005 Mar. PMID 15722956
    5. ARRDC1 and ARRDC3 act as tumor suppressors in renal cell carcinoma by facilitating YAP1 degradation. Xiao J, et al. Am J Cancer Res, 2018. PMID 29416926, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM200A is a potential prognostic biomarker and correlated with immune infiltrates in gastric cancer.
      Title: TMEM200A is a potential prognostic biomarker and correlated with immune infiltrates in gastric cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1913

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 200A
    Names
    two transmembrane C

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001258276.2 → NP_001245205.1  transmembrane protein 200A

      See identical proteins and their annotated locations for NP_001245205.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1-4 encode the same protein.
      Source sequence(s)
      AB052099, AK315824, AL121947, DA657363
      Consensus CDS
      CCDS5140.1
      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1
      Related
      ENSP00000480294.1, ENST00000617887.4
      Conserved Domains (1) summary
      pfam10177
      Location:16 → 161
      DUF2371; Uncharacterized conserved protein (DUF2371)

    2. NM_001258277.2 → NP_001245206.1  transmembrane protein 200A

      See identical proteins and their annotated locations for NP_001245206.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AB052099, AB067500, AL121947
      Consensus CDS
      CCDS5140.1
      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1
      Related
      ENSP00000296978.3, ENST00000296978.4
      Conserved Domains (1) summary
      pfam10177
      Location:16 → 161
      DUF2371; Uncharacterized conserved protein (DUF2371)

    3. NM_001258278.2 → NP_001245207.1  transmembrane protein 200A

      See identical proteins and their annotated locations for NP_001245207.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1.
      Source sequence(s)
      AB052099, AL137185, DA164344
      Consensus CDS
      CCDS5140.1
      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1
      Related
      ENSP00000438928.1, ENST00000545622.5
      Conserved Domains (1) summary
      pfam10177
      Location:16 → 161
      DUF2371; Uncharacterized conserved protein (DUF2371)

    4. NM_052913.3 → NP_443145.1  transmembrane protein 200A

      See identical proteins and their annotated locations for NP_443145.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1.
      Source sequence(s)
      AB052099, AL137251
      Consensus CDS
      CCDS5140.1
      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1
      Related
      ENSP00000376224.1, ENST00000392429.1
      Conserved Domains (1) summary
      pfam10177
      Location:16 → 161
      DUF2371; Uncharacterized conserved protein (DUF2371)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      130365531..130443067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266816.4 → XP_005266873.1  transmembrane protein 200A isoform X1

      See identical proteins and their annotated locations for XP_005266873.1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1
      Conserved Domains (1) summary
      pfam10177
      Location:16 → 161
      DUF2371; Uncharacterized conserved protein (DUF2371)

    2. XM_047418151.1 → XP_047274107.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    3. XM_047418155.1 → XP_047274111.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    4. XM_047418152.1 → XP_047274108.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    5. XM_047418154.1 → XP_047274110.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    6. XM_047418153.1 → XP_047274109.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    7. XM_017010230.3 → XP_016865719.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1
      Conserved Domains (1) summary
      pfam10177
      Location:16 → 161
      DUF2371; Uncharacterized conserved protein (DUF2371)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      131560183..131637851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354166.1 → XP_054210141.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    2. XM_054354167.1 → XP_054210142.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    3. XM_054354169.1 → XP_054210144.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    4. XM_054354170.1 → XP_054210145.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    5. XM_054354171.1 → XP_054210146.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    6. XM_054354168.1 → XP_054210143.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1

    7. XM_054354172.1 → XP_054210147.1  transmembrane protein 200A isoform X1

      UniProtKB/Swiss-Prot
      Q86VY9, Q96PX5
      UniProtKB/TrEMBL
      A8K2A1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VY9.1 GenPept UniProtKB/Swiss-Prot:Q86VY9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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