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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.

Additional gene information for TMEM246 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

GeneHancer (GH) Regulatory Elements for TMEM246 Gene

Promoters and enhancers for TMEM246 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I101485 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 559.5 +46.5 46478 3 HDGF SIN3A ZNF2 GLIS2 KLF7 ATF7 ZNF518A ZNF592 GMEB1 GLIS1 TMEM246 TMEM246-AS1 RNF20 ENSG00000233055 GC09M101474
GH09I101532 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.3 -283 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 E2F8 ZNF207 ZNF143 FOS RNF20 TMEM246 TMEM246-AS1
GH09I101430 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.4 +92.1 92149 20.9 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ALDOB LOC105376184 ZNF189 RNF20 TMEM246 MRPL50 TMEM246-AS1 BAAT
GH09I101478 Enhancer 0.6 ENCODE 42.9 +53.4 53365 3.8 CTCF KLF1 SOX6 TEAD4 HLF TAL1 KLF4 ATF2 TMEM246 TMEM246-AS1 RNF20 GC09M101474 ENSG00000233055
GH09I101465 Enhancer 0.9 Ensembl ENCODE 24.1 +67.9 67892 0.9 CTCF KLF1 MZF1 CEBPG RAD21 SMC3 PRDM10 MIXL1 STAT1 ZNF654 TMEM246 RNF20 TMEM246-AS1 LOC105376184
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM246 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TMEM246 Gene

Genomic Locations for TMEM246 Gene
chr9:101,473,158-101,533,537
(GRCh38/hg38)
Size:
60,380 bases
Orientation:
Minus strand
chr9:104,235,453-104,295,819
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for TMEM246 Gene

No data available for DME Specific Peptides for TMEM246 Gene

Domains & Families for TMEM246 Gene

Gene Families for TMEM246 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

Function for TMEM246 Gene

Phenotypes From GWAS Catalog for TMEM246 Gene

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

Animal Model Products

miRNA for TMEM246 Gene

miRTarBase miRNAs that target TMEM246

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

Subcellular locations from the

Human Protein Atlas (HPA)

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:

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

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 33 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia TMEM246 33 34
  • 91.56 (n)
dog
(Canis familiaris)
Mammalia TMEM246 33 34
  • 89.74 (n)
rat
(Rattus norvegicus)
Mammalia Tmem246 33
  • 88.5 (n)
mouse
(Mus musculus)
Mammalia Tmem246 33 16 34
  • 88.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM246 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9ORF125 33
  • 67.54 (n)
TMEM246 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM246 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem246 33
  • 55.02 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem246 33 34
  • 48.93 (n)
worm
(Caenorhabditis elegans)
Secernentea F35C11.4 34
  • 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 Variation AA Info Type
rs1000131941 -- 101,472,886(-) C/T downstream_transcript_variant
rs1000186981 -- 101,483,116(-) A/G intron_variant
rs1000194219 -- 101,474,362(-) C/T 3_prime_UTR_variant
rs1000197012 -- 101,483,394(-) G/A intron_variant
rs1000395402 -- 101,485,322(-) A/G 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)

Additional Variant Information 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

Additional Disease Information for 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 SJ … Dunham I (Nature 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for TMEM246 Gene

Sources for TMEM246 Gene

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