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    TMEM253 transmembrane protein 253 [ Homo sapiens (human) ]

    Gene ID: 643382, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM253provided by HGNC
    Official Full Name
    transmembrane protein 253provided by HGNC
    Primary source
    HGNC:HGNC:32545
    See related
    Ensembl:ENSG00000232070 AllianceGenome:HGNC:32545
    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
    C14orf95; C14orf176; NCRNA00220
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in duodenum (RPKM 26.0), small intestine (RPKM 24.6) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM253 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21098836..21103724)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15296249..15301137)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21566995..21571883)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NDRG family member 2 Neighboring gene ribonuclease A family member 8 Neighboring gene Rho guanine nucleotide exchange factor 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21539187-21539808 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21550650-21551849 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21552808-21554007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21554944-21555488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21555489-21556031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21558438-21559283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21559284-21560128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5581 Neighboring gene Sharpr-MPRA regulatory region 8150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21565235-21565736 Neighboring gene zinc finger protein 219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21566496-21566996 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21571456-21572200 Neighboring gene RNA, U6 small nuclear 252, pseudogene Neighboring gene cytoskeleton associated protein 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    2. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, 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

    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 253
    Names
    transmembrane protein C14orf176

    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_001146683.2 → NP_001140155.1  transmembrane protein 253 isoform 1

      See identical proteins and their annotated locations for NP_001140155.1

      Status: VALIDATED

      Source sequence(s)
      AL161668
      Consensus CDS
      CCDS53884.1
      UniProtKB/Swiss-Prot
      P0C7T8
      Related
      ENSP00000453962.1, ENST00000418511.6

    2. NM_001395464.1 → NP_001382393.1  transmembrane protein 253 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL161668

    3. NM_001395465.1 → NP_001382394.1  transmembrane protein 253 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL161668

    4. NM_001395466.1 → NP_001382395.1  transmembrane protein 253 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL161668

    5. NM_001395467.1 → NP_001382396.1  transmembrane protein 253 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL161668
      Consensus CDS
      CCDS53884.1
      UniProtKB/Swiss-Prot
      P0C7T8
      Related
      ENSP00000451229.2, ENST00000556585.3

    RNA

    1. NR_172562.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL161668

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21098836..21103724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537078.3 → XP_011535380.1  transmembrane protein 253 isoform X1

      See identical proteins and their annotated locations for XP_011535380.1

      UniProtKB/Swiss-Prot
      P0C7T8

    2. XM_011537079.3 → XP_011535381.1  transmembrane protein 253 isoform X1

      See identical proteins and their annotated locations for XP_011535381.1

      UniProtKB/Swiss-Prot
      P0C7T8

    3. XM_011537084.3 → XP_011535386.1  transmembrane protein 253 isoform X3

    4. XM_011537083.3 → XP_011535385.1  transmembrane protein 253 isoform X2

    5. XM_047431689.1 → XP_047287645.1  transmembrane protein 253 isoform X5

    6. XM_011537085.3 → XP_011535387.1  transmembrane protein 253 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15296249..15301137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376587.1 → XP_054232562.1  transmembrane protein 253 isoform X1

      UniProtKB/Swiss-Prot
      P0C7T8

    2. XM_054376588.1 → XP_054232563.1  transmembrane protein 253 isoform X1

      UniProtKB/Swiss-Prot
      P0C7T8

    3. XM_054376590.1 → XP_054232565.1  transmembrane protein 253 isoform X3

    4. XM_054376589.1 → XP_054232564.1  transmembrane protein 253 isoform X2

    5. XM_054376592.1 → XP_054232567.1  transmembrane protein 253 isoform X5

    6. XM_054376591.1 → XP_054232566.1  transmembrane protein 253 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7T8.1 GenPept UniProtKB/Swiss-Prot:P0C7T8

    Gene LinkOut

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