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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
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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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