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.

Additional gene information for TMEM248 Gene

No data available for Entrez Gene Summary , CIViC 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


Enhancers around TMEM248 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM248 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213030 284 2201 MLX DMAP1 YY1 ZNF143 SP3 ZC3H11A MEF2D ZNF610 RCOR2 NBN

Genomic Locations for TMEM248 Gene

Genomic Locations for TMEM248 Gene
chr7:66,921,216-66,958,551
(GRCh38/hg38)
Size:
37,336 bases
Orientation:
Plus strand
chr7:66,386,203-66,423,538
(GRCh37/hg19)

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

Post-translational modifications for TMEM248 Gene

  • Ubiquitination at posLast=7676, Lys228, and Lys308
  • Glycosylation at Asn132
  • 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

Gene Families for TMEM248 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

Function for TMEM248 Gene

Phenotypes From GWAS Catalog for TMEM248 Gene

Gene Ontology (GO) - Molecular Function for TMEM248 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM248: view
genes like me logo Genes that share phenotypes with TMEM248: view

Animal Models for TMEM248 Gene

MGI Knock Outs for TMEM248:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM248 gene
Compartment Confidence
plasma membrane 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM248 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM248: view

Pathways & Interactions for TMEM248 Gene

SuperPathways for TMEM248 Gene

No Data Available

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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TMEM248 Gene



Protein tissue co-expression partners for TMEM248 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM248 Gene:

TMEM248

SOURCE GeneReport for Unigene cluster for TMEM248 Gene:

Hs.488478

Evidence on tissue expression from TISSUES for TMEM248 Gene

  • Nervous system(4.9)
  • Intestine(4.4)
  • Liver(4.3)
  • Skin(4.3)
  • Lung(2.8)
  • Pancreas(2.5)
  • Eye(2.4)
genes like me logo Genes that share expression patterns with TMEM248: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia C7ORF42 34
  • 98 (a)
OneToOne
TMEM248 33
  • 92.46 (n)
cow
(Bos Taurus)
Mammalia TMEM248 33 34
  • 88.75 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM248 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tmem248 33 16 34
  • 86.73 (n)
rat
(Rattus norvegicus)
Mammalia Tmem248 33
  • 86.2 (n)
chicken
(Gallus gallus)
Aves TMEM248 34
  • 90 (a)
OneToOne
C19H7ORF42 33
  • 81.1 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM248 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem248 33
  • 74.38 (n)
Str.371 33
African clawed frog
(Xenopus laevis)
Amphibia MGC64441 33
zebrafish
(Danio rerio)
Actinopterygii tmem248 33 34
  • 73.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3210 34
  • 24 (a)
OneToOne
Species where no ortholog for TMEM248 was found in the sources mined by GeneCards:
  • 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
rs1000080678 -- 66,948,049(+) CACTG(C/T)GCCTG intron-variant
rs1000133027 -- 66,947,646(+) ATCCG(A/C)CCGCC intron-variant
rs1000150065 -- 66,949,627(+) AAATC(G/T)AACAT intron-variant
rs1000239817 -- 66,954,283(+) TACTA(C/T)GTAAA intron-variant
rs1000269355 -- 66,929,105(+) TTATG(C/T)AAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM248 Gene

Variant ID Type Subtype PubMed ID
nsv950540 CNV duplication 24416366
nsv436556 CNV deletion 17901297
esv6642 CNV loss 19470904
esv3891136 CNV gain 25118596
esv3613531 CNV gain 21293372
esv3541810 CNV deletion 23714750
esv33855 CNV loss 17666407
esv2759535 CNV gain 17122850
dgv1215e199 CNV deletion 23128226

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM248

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 (Nature genetics 2004) 3 4 60
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for TMEM248 Gene

Sources for TMEM248 Gene

Content
Loading form....