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TMEM248 transmembrane protein 248 [ Homo sapiens (human) ]

Gene ID: 55069, updated on 3-Oct-2020

Summary

Official Symbol
TMEM248provided by HGNC
Official Full Name
transmembrane protein 248provided by HGNC
Primary source
HGNC:HGNC:25476
See related
Ensembl:ENSG00000106609
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
Expression
Ubiquitous expression in thyroid (RPKM 30.2), endometrium (RPKM 26.8) and 25 other tissues See more
Orthologs

Genomic context

See TMEM248 in Genome Data Viewer
Location:
7q11.21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (66921208..66958551)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66386203..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 uncharacterized LOC112268006 Neighboring gene RNA, 7SL, cytoplasmic 43, pseudogene Neighboring gene SBDS ribosome maturation factor

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10099, FLJ13090

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 248
Names
UPF0458 protein C7orf42

NCBI Reference Sequences (RefSeq)

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_017994.5NP_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
    Q9NWD8
    UniProtKB/TrEMBL
    A0A024RDK7
    Related
    ENSP00000340668.4, ENST00000341567.8
    Conserved Domains (1) summary
    pfam14940
    Location:10257
    TMEM219; Transmembrane 219

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    66921208..66958551
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250482.4XP_005250539.1  transmembrane protein 248 isoform X2

    See identical proteins and their annotated locations for XP_005250539.1

    UniProtKB/Swiss-Prot
    Q9NWD8
    UniProtKB/TrEMBL
    A0A024RDK7
    Conserved Domains (1) summary
    pfam14940
    Location:10257
    TMEM219; Transmembrane 219
  2. XM_024446822.1XP_024302590.1  transmembrane protein 248 isoform X2

    Conserved Domains (1) summary
    pfam14940
    Location:10257
    TMEM219; Transmembrane 219
  3. XM_024446821.1XP_024302589.1  transmembrane protein 248 isoform X2

    Conserved Domains (1) summary
    pfam14940
    Location:10257
    TMEM219; Transmembrane 219
  4. XM_024446820.1XP_024302588.1  transmembrane protein 248 isoform X2

    Conserved Domains (1) summary
    pfam14940
    Location:10257
    TMEM219; Transmembrane 219
  5. XM_024446819.1XP_024302587.1  transmembrane protein 248 isoform X1

    Conserved Domains (1) summary
    pfam14940
    Location:18265
    TMEM219; Transmembrane 219
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