U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TMEM248 transmembrane protein 248 [ Homo sapiens (human) ]

Gene ID: 55069, updated on 6-Nov-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TMEM248 in Genome Data Viewer
Location:
7q11.21
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (66921225..66958551)
110 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 Sharpr-MPRA regulatory region 14266 Neighboring gene RNA, 7SL, cytoplasmic 43, pseudogene Neighboring gene SBDS ribosome maturation factor

Genomic regions, transcripts, and products

Phenotypes

EBI GWAS Catalog

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

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
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

Preferred Names
transmembrane protein 248
Names
UPF0458 protein C7orf42

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    Q96FR2, 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 Annotation Release 110 details...Open this link in a new tab

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_024446821.2XP_024302589.1  transmembrane protein 248 isoform X2

    UniProtKB/Swiss-Prot
    Q96FR2
    UniProtKB/TrEMBL
    A0A024RDK7
    Conserved Domains (1) summary
    pfam14940
    Location:10257
    TMEM219; Transmembrane 219
  2. XM_024446820.2XP_024302588.1  transmembrane protein 248 isoform X2

    UniProtKB/Swiss-Prot
    Q96FR2
    UniProtKB/TrEMBL
    A0A024RDK7
    Conserved Domains (1) summary
    pfam14940
    Location:10257
    TMEM219; Transmembrane 219
  3. XM_024446819.2XP_024302587.1  transmembrane protein 248 isoform X1

    Conserved Domains (1) summary
    pfam14940
    Location:18265
    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)