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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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G101478 0.6 ENCODE 42.9 +53.4 53366 3.8 ARID1B CTCF KLF1 TAL1 HLF KLF4 ATF2 TMEM246 TMEM246-AS1 RNF20 GC09M101474 ENSG00000233055
GH09G101465 1 Ensembl ENCODE 24.1 +67.9 67893 0.9 CTCF KLF1 CEBPG RAD21 SMC3 PRDM10 MIXL1 ZNF654 STAT1 HLF TMEM246 RNF20 TMEM246-AS1 LOC105376184
GH09G101430 1.6 Ensembl ENCODE dbSUPER 11.4 +92.1 92149 20.9 HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF189 TMEM246 RNF20 MRPL50 TMEM246-AS1 ALDOB BAAT LOC105376184
GH09G101485 1.3 FANTOM5 ENCODE 9.5 +46.5 46478 3.0 HDGF SIN3A ZNF2 GLIS2 KLF7 ZNF518A ZNF592 GLIS1 PRDM4 CTCF TMEM246 TMEM246-AS1 RNF20 ENSG00000233055 GC09M101474
GH09G101459 1 Ensembl ENCODE 12.1 +74.4 74403 0.3 GTF2F1 ELF3 SOX13 CTCF SAP130 MAX RAD21 RFX5 GATA3 GATA2 RNF20 TMEM246 TMEM246-AS1 LOC105376184
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM246 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM246 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000238952 -364 1800 HDGF PKNOX1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS SP3 SP5

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

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

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

Inhibitory RNA Products

Clone 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
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 TMEM246 gene
Compartment Confidence
golgi apparatus 3
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TMEM246 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM246: view

Pathways & Interactions for TMEM246 Gene

SuperPathways for TMEM246 Gene

No Data Available

Interacting Proteins for TMEM246 Gene

Selected Interacting proteins: Q9BRR3-TM246_HUMAN for TMEM246 Gene via IID

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TMEM246 Gene



Protein tissue co-expression partners for TMEM246 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM246 Gene:

TMEM246

SOURCE GeneReport for Unigene cluster for TMEM246 Gene:

Hs.655738

Evidence on tissue expression from TISSUES for TMEM246 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with TMEM246: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TMEM246 34 35
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia TMEM246 34 35
  • 91.56 (n)
dog
(Canis familiaris)
Mammalia TMEM246 34 35
  • 89.74 (n)
rat
(Rattus norvegicus)
Mammalia Tmem246 34
  • 88.5 (n)
mouse
(Mus musculus)
Mammalia Tmem246 34 16 35
  • 88.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM246 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9ORF125 34
  • 67.54 (n)
TMEM246 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM246 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem246 34
  • 55.02 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem246 34 35
  • 48.93 (n)
worm
(Caenorhabditis elegans)
Secernentea F35C11.4 35
  • 27 (a)
OneToOne
Species where no ortholog for TMEM246 was found in the sources mined by GeneCards:
  • 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
rs1000131941 -- 101,472,886(+) GATCA(C/T)CACAT intron-variant, downstream-variant-500B
rs1000186981 -- 101,483,116(+) CTTGA(A/G)TCCTT intron-variant
rs1000194219 -- 101,474,362(+) TTGAA(C/T)TCTAA intron-variant, utr-variant-3-prime
rs1000197012 -- 101,483,394(+) AAGAA(A/G)TATGA intron-variant
rs1000395402 -- 101,485,322(+) CACTT(A/G)AATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM246 Gene

Variant ID Type Subtype PubMed ID
nsv614962 CNV gain 21841781

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)

Relevant External Links for TMEM246 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM246

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  2. 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 64
  3. 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 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for TMEM246 Gene

Sources for TMEM246 Gene

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