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    TMEM200C transmembrane protein 200C [ Homo sapiens (human) ]

    Gene ID: 645369, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM200Cprovided by HGNC
    Official Full Name
    transmembrane protein 200Cprovided by HGNC
    Primary source
    HGNC:HGNC:37208
    See related
    Ensembl:ENSG00000206432 AllianceGenome:HGNC:37208
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in adrenal (RPKM 1.2), brain (RPKM 1.0) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM200C in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (5882072..5896174, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (6042188..6056282, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (5882071..5896173, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 like 3 Neighboring gene uncharacterized LOC107985145 Neighboring gene NANOG hESC enhancer GRCh37_chr18:5624822-5625323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:5629686-5630190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9263 Neighboring gene NANOG hESC enhancer GRCh37_chr18:5678118-5678619 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:5684410-5684994 Neighboring gene NANOG hESC enhancer GRCh37_chr18:5733383-5733915 Neighboring gene MIR3976 host gene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:5891299-5891826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9265 Neighboring gene uncharacterized LOC121725015 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:5899993-5901192 Neighboring gene microRNA 3976 Neighboring gene OCT4 hESC enhancer GRCh37_chr18:5941844-5942352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:5964119-5964619 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:5964978-5965478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13058 Neighboring gene L3MBTL histone methyl-lysine binding protein 4 Neighboring gene Sharpr-MPRA regulatory region 6254 Neighboring gene RNA, U5F small nuclear 3, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:6146293-6146793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13059 Neighboring gene L3MBTL4 antisense RNA 1

    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. Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18. Pickard BS, et al. Psychiatr Genet, 2005 Mar. PMID 15722956
    2. DNA sequence and analysis of human chromosome 18. Nusbaum C, et al. Nature, 2005 Sep 22. PMID 16177791
    3. AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation. Hülsmann J, et al. Mol Cell Proteomics, 2018 Jul. PMID 29599191, Free PMC Article
    4. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
    5. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Gene Ontology Provided by GOA

    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 200C
    Names
    transmembrane protein TTMA
    two transmembrane domain family member A
    two transmembrane domain-containing family member A

    NCBI Reference Sequences (RefSeq)

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    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_001080209.3 → NP_001073678.1  transmembrane protein 200C

      See identical proteins and their annotated locations for NP_001073678.1

      Status: VALIDATED

      Source sequence(s)
      AP005433
      Consensus CDS
      CCDS45825.1
      UniProtKB/Swiss-Prot
      A6NKL6
      Related
      ENSP00000463375.1, ENST00000581347.2
      Conserved Domains (1) summary
      pfam10177
      Location:14 → 201
      DUF2371; Uncharacterized conserved protein (DUF2371)

    2. NM_001395400.1 → NP_001382329.1  transmembrane protein 200C

      Status: VALIDATED

      Source sequence(s)
      AP005433
      Consensus CDS
      CCDS45825.1
      UniProtKB/Swiss-Prot
      A6NKL6
      Related
      ENSP00000372982.2, ENST00000383490.3
      Conserved Domains (1) summary
      pfam10177
      Location:14 → 201
      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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      5882072..5896174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      6042188..6056282 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318977.1 → XP_054174952.1  transmembrane protein 200C isoform X1

      UniProtKB/Swiss-Prot
      A6NKL6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NKL6.2 GenPept UniProtKB/Swiss-Prot:A6NKL6

    Gene LinkOut

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

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