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    TMCO2 transmembrane and coiled-coil domains 2 [ Homo sapiens (human) ]

    Gene ID: 127391, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMCO2provided by HGNC
    Official Full Name
    transmembrane and coiled-coil domains 2provided by HGNC
    Primary source
    HGNC:HGNC:23312
    See related
    Ensembl:ENSG00000188800 AllianceGenome:HGNC:23312
    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
    dJ39G22.2
    Summary
    Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 44.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See TMCO2 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40247937..40251684)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40117403..40121152)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40713609..40717356)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 721 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:40625521-40625722 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40626731-40627347 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40627348-40627963 Neighboring gene RLF zinc finger Neighboring gene RNA, U6 small nuclear 1237, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 837 Neighboring gene zinc metallopeptidase STE24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 724 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:40781816-40782452 and GRCh37_chr1:40782453-40783089 Neighboring gene collagen type IX alpha 2 chain

    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. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    2. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
    3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    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

    • MGC131705

    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
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    transmembrane and coiled-coil domain-containing protein 2
    Names
    testis tissue sperm-binding protein Li 35a

    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_001008740.4 → NP_001008740.1  transmembrane and coiled-coil domain-containing protein 2

      See identical proteins and their annotated locations for NP_001008740.1

      Status: VALIDATED

      Source sequence(s)
      BC108666, BU567634
      Consensus CDS
      CCDS30684.1
      UniProtKB/Swiss-Prot
      Q7Z6W1
      UniProtKB/TrEMBL
      A0A140VKB8
      Related
      ENSP00000361852.3, ENST00000372766.4
      Conserved Domains (1) summary
      pfam15844
      Location:9 → 179
      TMCCDC2; Transmembrane and coiled-coil domain-containing protein 2

    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
      40247937..40251684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      40117403..40121152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6W1.1 GenPept UniProtKB/Swiss-Prot:Q7Z6W1

    Gene LinkOut

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

    Chemical Information
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