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Aliases for TMEM247 Gene

Aliases for TMEM247 Gene

  • Transmembrane Protein 247 2 3 5

External Ids for TMEM247 Gene

Previous GeneCards Identifiers for TMEM247 Gene

  • GC02P046657

Summaries for TMEM247 Gene

GeneCards Summary for TMEM247 Gene

TMEM247 (Transmembrane Protein 247) 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 TMEM247 Gene

Genomics for TMEM247 Gene

Regulatory Elements for TMEM247 Gene

Enhancers for TMEM247 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
GH02F046481 1 Ensembl ENCODE 24.7 +52.6 52568 1.2 PKNOX1 ATF1 FEZF1 GLI4 ZNF2 GLIS2 KLF7 FOS ZNF263 SP3 TMEM247 LOC105374580 SRBD1 ENSG00000253515 ENSG00000225187 LOC100506142 ENSG00000228925 ATP6V1E2 RHOQ ENSG00000231336
GH02F046446 0.4 ENCODE 20.5 +17.8 17848 0.7 CEBPB FOS TMEM247 EPAS1 ENSG00000253515 ENSG00000232696 ATP6V1E2 RN7SL817P GC02M046254
GH02F046489 0.5 Ensembl ENCODE 16.9 +61.2 61211 2.0 CTCF CEBPB RAD21 ZIC2 NR2F2 ZNF664 SMARCA4 SCRT2 EED ZNF341 TMEM247 CRIPT ATP6V1E2 ENSG00000253515 RN7SL817P
GH02F046487 1.1 Ensembl ENCODE 16.5 +58.9 58901 1.0 CTCF TBP JUN CEBPB MAX EP300 SMARCB1 RAD21 NR2F2 RAD51 TMEM247 EPAS1 ENSG00000253515 RN7SL817P
GH02F047368 0.8 ENCODE 16.2 +942.0 941976 6.3 ZFP64 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ZNF121 GLIS2 KLF7 EPCAM ENSG00000226473 ENSG00000253515 TMEM247 MSH2 LOC101927043 GC02P047378 RN7SKP119
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM247 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM247 Gene

Chromosome:
2
Start:
46,429,190 bp from pter
End:
46,484,579 bp from pter
Size:
55,390 bases
Orientation:
Plus strand

Genomic View for TMEM247 Gene

Genes around TMEM247 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM247 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM247 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM247 Gene

Proteins for TMEM247 Gene

  • Protein details for TMEM247 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NEH6-TM247_HUMAN
    Recommended name:
    Transmembrane protein 247
    Protein Accession:
    A6NEH6

    Protein attributes for TMEM247 Gene

    Size:
    219 amino acids
    Molecular mass:
    25168 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM247 Gene

Post-translational modifications for TMEM247 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM247 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM247 Gene

Domains & Families for TMEM247 Gene

Protein Domains for TMEM247 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM247: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TMEM247 Gene

Function for TMEM247 Gene

Phenotypes for TMEM247 Gene

GenomeRNAi human phenotypes for TMEM247:
genes like me logo Genes that share phenotypes with TMEM247: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM247 Gene

Localization for TMEM247 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM247 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM247 Gene COMPARTMENTS Subcellular localization image for TMEM247 gene
Compartment Confidence
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for TMEM247 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM247: view

Pathways & Interactions for TMEM247 Gene

SuperPathways for TMEM247 Gene

No Data Available

Interacting Proteins for TMEM247 Gene

Gene Ontology (GO) - Biological Process for TMEM247 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM247 Gene

Transcripts for TMEM247 Gene

mRNA/cDNA for TMEM247 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(4) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM247 Gene

Transmembrane protein 247:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM247 Gene

No ASD Table

Relevant External Links for TMEM247 Gene

GeneLoc Exon Structure for
TMEM247
ECgene alternative splicing isoforms for
TMEM247

Expression for TMEM247 Gene

mRNA expression in normal human tissues for TMEM247 Gene

mRNA differential expression in normal tissues according to GTEx for TMEM247 Gene

This gene is overexpressed in Testis (x52.8).

Protein differential expression in normal tissues from HIPED for TMEM247 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM247 Gene



Protein tissue co-expression partners for TMEM247 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM247 Gene:

TMEM247

SOURCE GeneReport for Unigene cluster for TMEM247 Gene:

Hs.733348
genes like me logo Genes that share expression patterns with TMEM247: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TMEM247 Gene

Orthologs for TMEM247 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM247 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM247 34 35
  • 97.55 (n)
cow
(Bos Taurus)
Mammalia TMEM247 34 35
  • 87.06 (n)
dog
(Canis familiaris)
Mammalia TMEM247 34 35
  • 85.28 (n)
rat
(Rattus norvegicus)
Mammalia Tmem247 34
  • 79.13 (n)
mouse
(Mus musculus)
Mammalia Tmem247 34 16 35
  • 75.76 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM247 35
  • 24 (a)
OneToOne
Species where no ortholog for TMEM247 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TMEM247 Gene

ENSEMBL:
Gene Tree for TMEM247 (if available)
TreeFam:
Gene Tree for TMEM247 (if available)

Paralogs for TMEM247 Gene

No data available for Paralogs for TMEM247 Gene

Variants for TMEM247 Gene

Sequence variations from dbSNP and Humsavar for TMEM247 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1052423 -- 46,480,667(+) CCAGC(A/G)GCAGC reference, missense
rs111240693 -- 46,480,035(+) TTTCT(C/T)CCTCT intron-variant
rs111266519 -- 46,483,131(+) ATATG(C/T)CATGA intron-variant
rs111701016 -- 46,484,492(+) TATCC(A/G)TGCAT intron-variant
rs111795207 -- 46,478,197(+) TTTCC(C/G)TTGAT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TMEM247 Gene

Variant ID Type Subtype PubMed ID
dgv149e55 CNV loss 17911159
dgv690e214 CNV loss 21293372
esv2759046 CNV loss 17122850
esv33715 CNV gain 17666407
esv3590612 CNV loss 21293372
nsv2715 CNV insertion 18451855
nsv437435 CNV loss 16327808
nsv519216 CNV gain 19592680
nsv581746 CNV loss 21841781
nsv581747 CNV loss 21841781
nsv817828 CNV loss 17921354
nsv9702 CNV loss 18304495

Variation tolerance for TMEM247 Gene

Gene Damage Index Score: 6.26; 76.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM247 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM247

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM247 Gene

Disorders for TMEM247 Gene

Relevant External Links for TMEM247

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM247

No disorders were found for TMEM247 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM247 Gene

Publications for TMEM247 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64

Products for TMEM247 Gene

Sources for TMEM247 Gene

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