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    TMEM269 transmembrane protein 269 [ Homo sapiens (human) ]

    Gene ID: 100129924, updated on 17-Jun-2024

    Summary

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    Official Symbol
    TMEM269provided by HGNC
    Official Full Name
    transmembrane protein 269provided by HGNC
    Primary source
    HGNC:HGNC:52381
    See related
    Ensembl:ENSG00000274386 AllianceGenome:HGNC:52381
    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
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 1.1), fat (RPKM 0.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM269 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42784991..42800827)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42655481..42671316)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43250662..43266498)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43216651-43217315 Neighboring gene prolyl 3-hydroxylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 768 Neighboring gene chromosome 1 open reading frame 50 Neighboring gene TMEM269 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43250662-43251403 Neighboring gene uncharacterized LOC107984946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 771 Neighboring gene small vasohibin binding protein Neighboring gene erythroblast membrane associated protein (Scianna blood group) Neighboring gene uncharacterized LOC124904163

    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. Study of FOXO1-interacting proteins using TurboID-based proximity labeling technology. Su Y, et al. BMC Genomics, 2023 Mar 24. PMID 36964488, 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)

    Genotypes

    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 269

    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_001354602.2 → NP_001341531.2  transmembrane protein 269

      Status: VALIDATED

      Source sequence(s)
      AC098484
      Consensus CDS
      CCDS90932.1
      UniProtKB/Swiss-Prot
      A0A1B0GUR4, A0A1B0GVZ9
      Related
      ENSP00000490213.1, ENST00000637012.2
      Conserved Domains (1) summary
      COG1183
      Location:1 → 188
      PssA; Phosphatidylserine synthase [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      42784991..42800827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      42655481..42671316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001242750.1: Suppressed sequence

      Description
      NM_001242750.1: This RefSeq has been removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GVZ9.2 GenPept UniProtKB/Swiss-Prot:A0A1B0GVZ9

    Gene LinkOut

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