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    TMEM200B transmembrane protein 200B [ Homo sapiens (human) ]

    Gene ID: 399474, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM200Bprovided by HGNC
    Official Full Name
    transmembrane protein 200Bprovided by HGNC
    Primary source
    HGNC:HGNC:33785
    See related
    Ensembl:ENSG00000253304 AllianceGenome:HGNC:33785
    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
    TTMB
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 25.9), prostate (RPKM 14.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM200B in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (29119429..29123903, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28962085..28966559, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (29445941..29450415, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 Neighboring gene uncharacterized LOC124903886 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:29292005-29292535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29292536-29293065 Neighboring gene MPRA-validated peak137 silencer Neighboring gene Sharpr-MPRA regulatory region 9156 Neighboring gene ribosomal protein L27 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29449829-29450688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29450689-29451548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29451549-29452408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29482895-29483396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29490994-29491614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29504446-29504946 Neighboring gene serine and arginine rich splicing factor 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29508465-29509102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29509103-29509740 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513125-29513770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513771-29514415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29524789-29525289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 555 Neighboring gene mitochondrial trans-2-enoyl-CoA reductase Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29535731-29536232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 610 Neighboring gene uncharacterized LOC124903887

    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. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    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

    • MGC90489, MGC102864

    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 200B
    Names
    transmembrane protein TTMA
    two transmembrane B
    two transmembrane domain-containing family member B

    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_001003682.4 → NP_001003682.1  transmembrane protein 200B

      See identical proteins and their annotated locations for NP_001003682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI367819, BC064375, BC082989, BC110336
      Consensus CDS
      CCDS30658.1
      UniProtKB/Swiss-Prot
      Q69YZ2, Q6P2G8, Q6P2Q5
      Related
      ENSP00000428459.1, ENST00000521452.2
      Conserved Domains (1) summary
      pfam10177
      Location:50 → 147
      DUF2371; Uncharacterized conserved protein (DUF2371)

    2. NM_001171868.2 → NP_001165339.1  transmembrane protein 200B

      See identical proteins and their annotated locations for NP_001165339.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI367819, BC110336
      Consensus CDS
      CCDS30658.1
      UniProtKB/Swiss-Prot
      Q69YZ2, Q6P2G8, Q6P2Q5
      Related
      ENSP00000428544.1, ENST00000420504.2
      Conserved Domains (1) summary
      pfam10177
      Location:50 → 147
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      29119429..29123903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      28962085..28966559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69YZ2.1 GenPept UniProtKB/Swiss-Prot:Q69YZ2

    Gene LinkOut

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

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