Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMEM248 Gene

Aliases for TMEM248 Gene

  • Transmembrane Protein 248 2 3 5
  • C7orf42 3 4
  • Chromosome 7 Open Reading Frame 42 2
  • UPF0458 Protein C7orf42 3

External Ids for TMEM248 Gene

Previous HGNC Symbols for TMEM248 Gene

  • C7orf42

Previous GeneCards Identifiers for TMEM248 Gene

  • GC07P066389
  • GC07P066393
  • GC07P066400
  • GC07P066411

Summaries for TMEM248 Gene

GeneCards Summary for TMEM248 Gene

TMEM248 (Transmembrane Protein 248) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM248 Gene

Genomics for TMEM248 Gene

Regulatory Elements for TMEM248 Gene

Promoters for TMEM248 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM248 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM248 Gene

Chromosome:
7
Start:
66,921,216 bp from pter
End:
66,958,551 bp from pter
Size:
37,336 bases
Orientation:
Plus strand

Genomic View for TMEM248 Gene

Genes around TMEM248 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM248 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM248 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM248 Gene

Proteins for TMEM248 Gene

  • Protein details for TMEM248 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWD8-TM248_HUMAN
    Recommended name:
    Transmembrane protein 248
    Protein Accession:
    Q9NWD8
    Secondary Accessions:
    • Q53H07
    • Q96FR2

    Protein attributes for TMEM248 Gene

    Size:
    314 amino acids
    Molecular mass:
    35052 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM248 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM248 Gene

Proteomics data for TMEM248 Gene at MOPED

Post-translational modifications for TMEM248 Gene

  • Ubiquitination at Lys 76, Lys 228, and Lys 308
  • Glycosylation at Asn 132
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM248 Gene

No data available for DME Specific Peptides for TMEM248 Gene

Domains & Families for TMEM248 Gene

Protein Domains for TMEM248 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for TMEM248 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWD8

UniProtKB/Swiss-Prot:

TM248_HUMAN :
  • Belongs to the TMEM248 family.
Family:
  • Belongs to the TMEM248 family.
genes like me logo Genes that share domains with TMEM248: view

No data available for Gene Families for TMEM248 Gene

Function for TMEM248 Gene

genes like me logo Genes that share phenotypes with TMEM248: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM248 Gene

Localization for TMEM248 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM248 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM248 Gene COMPARTMENTS Subcellular localization image for TMEM248 gene
Compartment Confidence
plasma membrane 3
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for TMEM248 Gene

Pathways & Interactions for TMEM248 Gene

SuperPathways for TMEM248 Gene

No Data Available

Interacting Proteins for TMEM248 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000340668%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000316130%0d%0a
Selected Interacting proteins: Q9NWD8-TM248_HUMAN ENSP00000340668 for TMEM248 Gene via I2D UniProtKB STRING

Gene Ontology (GO) - Biological Process for TMEM248 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM248 Gene

Drugs & Compounds for TMEM248 Gene

No Compound Related Data Available

Transcripts for TMEM248 Gene

Unigene Clusters for TMEM248 Gene

Transmembrane protein 248:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM248 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for TMEM248 Gene

GeneLoc Exon Structure for
TMEM248
ECgene alternative splicing isoforms for
TMEM248

Expression for TMEM248 Gene

mRNA expression in normal human tissues for TMEM248 Gene

Protein differential expression in normal tissues from HIPED for TMEM248 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM248 Gene



SOURCE GeneReport for Unigene cluster for TMEM248 Gene Hs.488478

genes like me logo Genes that share expression patterns with TMEM248: view

Protein tissue co-expression partners for TMEM248 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM248 Gene

Orthologs for TMEM248 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM248 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM248 35
  • 99.79 (n)
  • 100 (a)
TMEM248 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM248 36
  • 96 (a)
OneToOne
TMEM248 35
  • 88.75 (n)
  • 95.86 (a)
dog
(Canis familiaris)
Mammalia TMEM248 35
  • 92.46 (n)
  • 97.77 (a)
C7ORF42 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem248 36
  • 95 (a)
OneToOne
Tmem248 16
Tmem248 35
  • 86.73 (n)
  • 94.59 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM248 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tmem248 35
  • 86.2 (n)
  • 95.22 (a)
chicken
(Gallus gallus)
Aves TMEM248 36
  • 90 (a)
OneToOne
C19H7ORF42 35
  • 81.1 (n)
  • 90.45 (a)
lizard
(Anolis carolinensis)
Reptilia TMEM248 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64441 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.371 35
tmem248 35
  • 74.38 (n)
  • 85.21 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem248 36
  • 79 (a)
OneToOne
tmem248 35
  • 73.25 (n)
  • 80.26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3210 36
  • 24 (a)
OneToOne
Species with no ortholog for TMEM248:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM248 Gene

ENSEMBL:
Gene Tree for TMEM248 (if available)
TreeFam:
Gene Tree for TMEM248 (if available)

Paralogs for TMEM248 Gene

(1) SIMAP similar genes for TMEM248 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for TMEM248 Gene

genes like me logo Genes that share paralogs with TMEM248: view

No data available for Paralogs for TMEM248 Gene

Variants for TMEM248 Gene

Sequence variations from dbSNP and Humsavar for TMEM248 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1404980 -- 66,956,001(+) TGTGT(C/T)TGTGG utr-variant-3-prime
rs1589887 -- 66,950,149(+) TCAAC(A/T)TGGGA intron-variant
rs3735155 -- 66,942,143(-) AAATA(A/C)TGATT intron-variant
rs3778917 -- 66,947,059(-) TTTTT(A/T)AATTT intron-variant
rs3823610 -- 66,952,055(-) GCAAA(A/C/G)GGCCA intron-variant

Variation tolerance for TMEM248 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM248 Gene

HapMap Linkage Disequilibrium report
TMEM248

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TMEM248 Gene

Disorders for TMEM248 Gene

Relevant External Links for TMEM248

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM248

No disorders were found for TMEM248 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM248 Gene

Publications for TMEM248 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. (PMID: 23291589) Lu Y. … Wong T.Y. (Nat. Genet. 2013) 3

Products for TMEM248 Gene

Sources for TMEM248 Gene

Back to Top

Content