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Aliases for TMEM246 Gene

Aliases for TMEM246 Gene

  • Transmembrane Protein 246 2 3 5
  • C9orf125 3 4
  • Chromosome 9 Open Reading Frame 125 2
  • Transmembrane Protein C9orf125 3

External Ids for TMEM246 Gene

Previous HGNC Symbols for TMEM246 Gene

  • C9orf125

Previous GeneCards Identifiers for TMEM246 Gene

  • GC09M104236

Summaries for TMEM246 Gene

GeneCards Summary for TMEM246 Gene

TMEM246 (Transmembrane Protein 246) 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 TMEM246 Gene

Genomics for TMEM246 Gene

Regulatory Elements for TMEM246 Gene

Enhancers for TMEM246 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMEM246 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM246 Gene

Chromosome:
9
Start:
101,473,158 bp from pter
End:
101,533,537 bp from pter
Size:
60,380 bases
Orientation:
Minus strand

Genomic View for TMEM246 Gene

Genes around TMEM246 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM246 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM246 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM246 Gene

Proteins for TMEM246 Gene

  • Protein details for TMEM246 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRR3-TM246_HUMAN
    Recommended name:
    Transmembrane protein 246
    Protein Accession:
    Q9BRR3
    Secondary Accessions:
    • Q49AQ4

    Protein attributes for TMEM246 Gene

    Size:
    403 amino acids
    Molecular mass:
    46588 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM246 Gene

Proteomics data for TMEM246 Gene at MOPED

Post-translational modifications for TMEM246 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM246 Gene

No data available for DME Specific Peptides for TMEM246 Gene

Domains & Families for TMEM246 Gene

Protein Domains for TMEM246 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM246 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BRR3

UniProtKB/Swiss-Prot:

TM246_HUMAN :
  • Belongs to the TMEM246 family.
Family:
  • Belongs to the TMEM246 family.
genes like me logo Genes that share domains with TMEM246: view

No data available for Gene Families for TMEM246 Gene

Function for TMEM246 Gene

genes like me logo Genes that share phenotypes with TMEM246: view

Animal Model Products

CRISPR 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 TMEM246 Gene

Localization for TMEM246 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM246 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM246 Gene COMPARTMENTS Subcellular localization image for TMEM246 gene
Compartment Confidence
golgi apparatus 3
mitochondrion 2
nucleus 2
cytosol 1
extracellular 1
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for TMEM246 Gene

Pathways & Interactions for TMEM246 Gene

SuperPathways for TMEM246 Gene

No Data Available

Interacting Proteins for TMEM246 Gene

STRING Interaction Network Preview (showing 3 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.ENSP00000363980%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000309096%0d%0a9606.ENSP00000305595%0d%0a
Selected Interacting proteins: ENSP00000363980 for TMEM246 Gene via STRING

Gene Ontology (GO) - Biological Process for TMEM246 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM246 Gene

Drugs & Compounds for TMEM246 Gene

No Compound Related Data Available

Transcripts for TMEM246 Gene

Unigene Clusters for TMEM246 Gene

Transmembrane protein 246:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM246 Gene

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

Relevant External Links for TMEM246 Gene

GeneLoc Exon Structure for
TMEM246
ECgene alternative splicing isoforms for
TMEM246

Expression for TMEM246 Gene

mRNA expression in normal human tissues for TMEM246 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM246 Gene

This gene is overexpressed in Serum (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM246 Gene



SOURCE GeneReport for Unigene cluster for TMEM246 Gene Hs.655738

genes like me logo Genes that share expression patterns with TMEM246: view

Protein tissue co-expression partners for TMEM246 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM246 Gene

Orthologs for TMEM246 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM246 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM246 35
  • 91.56 (n)
  • 99.5 (a)
TMEM246 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM246 35
  • 89.74 (n)
  • 97.27 (a)
TMEM246 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem246 35
  • 88.17 (n)
  • 98.26 (a)
Tmem246 16
Tmem246 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM246 35
  • 99.6 (n)
  • 100 (a)
TMEM246 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem246 35
  • 88.5 (n)
  • 98.26 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM246 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9ORF125 35
  • 67.54 (n)
  • 65.79 (a)
TMEM246 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM246 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem246 35
  • 55.02 (n)
  • 51.04 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem246 35
  • 48.93 (n)
  • 43.85 (a)
tmem246 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F35C11.4 36
  • 27 (a)
OneToOne
Species with no ortholog for TMEM246:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for TMEM246 Gene

ENSEMBL:
Gene Tree for TMEM246 (if available)
TreeFam:
Gene Tree for TMEM246 (if available)

Paralogs for TMEM246 Gene

(1) SIMAP similar genes for TMEM246 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMEM246: view

No data available for Paralogs for TMEM246 Gene

Variants for TMEM246 Gene

Sequence variations from dbSNP and Humsavar for TMEM246 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1113384 -- 101,488,361(+) ATTCC(G/T)AAATT upstream-variant-2KB
rs1124148 -- 101,488,415(+) TGGCT(C/T)AGTGC upstream-variant-2KB
rs113016275 -- 101,488,852(+) AGAAA(A/G)TTCTA upstream-variant-2KB
rs1929482 -- 101,484,497(+) cgtgt(C/T)ataaa intron-variant
rs1929483 -- 101,484,984(+) CATAA(C/T)TAAGC intron-variant

Variation tolerance for TMEM246 Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.93% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for TMEM246 Gene

Disorders for TMEM246 Gene

Relevant External Links for TMEM246

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM246

No disorders were found for TMEM246 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM246 Gene

Publications for TMEM246 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 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 human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. (PMID: 25352737) Ritchie M.D. … McCarty C.A. (Mol. Vis. 2014) 3

Products for TMEM246 Gene

Sources for TMEM246 Gene

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