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    TMEM248 transmembrane protein 248 [ Homo sapiens (human) ]

    Gene ID: 55069, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM248provided by HGNC
    Official Full Name
    transmembrane protein 248provided by HGNC
    Primary source
    HGNC:HGNC:25476
    See related
    Ensembl:ENSG00000106609 AllianceGenome:HGNC:25476
    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
    C7orf42
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 30.2), endometrium (RPKM 26.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM248 in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (66921225..66958551)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (68140896..68178227)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66386212..66423538)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2604 Neighboring gene ribosomal protein L31 pseudogene 38 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18218 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:66415389-66416588 Neighboring gene Sharpr-MPRA regulatory region 14266 Neighboring gene MPRA-validated peak6549 silencer Neighboring gene RNA, 7SL, cytoplasmic 43, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26091 Neighboring gene SBDS ribosome maturation factor

    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. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Lu Y, et al. Nat Genet, 2013 Feb. PMID 23291589, Free PMC Article
    2. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
    3. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (19) 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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ10099, FLJ13090

    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
    		  

    General protein information

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    Preferred Names
    transmembrane protein 248
    Names
    UPF0458 protein C7orf42

    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_017994.5 → NP_060464.1  transmembrane protein 248

      See identical proteins and their annotated locations for NP_060464.1

      Status: VALIDATED

      Source sequence(s)
      AC079920, AK222774, BC012562
      Consensus CDS
      CCDS5536.1
      UniProtKB/Swiss-Prot
      Q53H07, Q96FR2, Q9NWD8
      Related
      ENSP00000340668.4, ENST00000341567.8
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 257
      TMEM219; Transmembrane 219

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      66921225..66958551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446821.2 → XP_024302589.1  transmembrane protein 248 isoform X2

      UniProtKB/Swiss-Prot
      Q53H07, Q96FR2, Q9NWD8
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 257
      TMEM219; Transmembrane 219

    2. XM_024446820.2 → XP_024302588.1  transmembrane protein 248 isoform X2

      UniProtKB/Swiss-Prot
      Q53H07, Q96FR2, Q9NWD8
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 257
      TMEM219; Transmembrane 219

    3. XM_024446819.2 → XP_024302587.1  transmembrane protein 248 isoform X1

      Conserved Domains (1) summary
      pfam14940
      Location:18 → 265
      TMEM219; Transmembrane 219

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      68140896..68178227
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358553.1 → XP_054214528.1  transmembrane protein 248 isoform X2

      UniProtKB/Swiss-Prot
      Q53H07, Q96FR2, Q9NWD8

    2. XM_054358554.1 → XP_054214529.1  transmembrane protein 248 isoform X2

      UniProtKB/Swiss-Prot
      Q53H07, Q96FR2, Q9NWD8

    3. XM_054358552.1 → XP_054214527.1  transmembrane protein 248 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWD8.1 GenPept UniProtKB/Swiss-Prot:Q9NWD8

    Gene LinkOut

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

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