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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
  • GC02P046430

Summaries for TMEM247 Gene

GeneCards Summary for TMEM247 Gene

TMEM247 (Transmembrane Protein 247) is a Protein Coding gene.

Additional gene information for TMEM247 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 TMEM247 Gene

Genomics for TMEM247 Gene

GeneHancer (GH) Regulatory Elements for TMEM247 Gene

Promoters and enhancers for TMEM247 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
GH02I046477 Enhancer 0.7 Ensembl 550.8 -1.8 -1796 0.2 HDAC1 MEIS2 LEF1 PKNOX1 FOXA2 NFRKB CTBP1 POLR2A FOXK2 TRIM24 TMEM247 RN7SL817P ENSG00000284608
GH02I046479 Promoter 0.5 EPDnew 550.8 +0.0 10 0.1 TMEM247 LOC101805491 ENSG00000253515 ENSG00000284608
GH02I046481 Enhancer 1 ENCODE 0.8 +2.3 2261 1.2 ATF1 PKNOX1 FEZF1 GLI4 ZNF2 GLIS2 ZNF213 KLF7 FOS SP3 SOCS5 RHOQ ATP6V1E2 MSH2 LOC101805491 EPAS1 PRKCE TMEM247 ENSG00000253515 ENSG00000284608
GH02I046460 Enhancer 1.4 FANTOM5 Ensembl ENCODE 0.4 -18.1 -18120 2.3 ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 ARID2 ZNF143 RUNX3 DEK ENSG00000253515 ENSG00000232696 LOC101805491 TTC7A RHOQ MCFD2 RN7SL817P TMEM247 ENSG00000284608
GH02I046464 Enhancer 1 Ensembl ENCODE 0.4 -14.9 -14921 0.4 ELF3 ARID4B ZNF2 RAD21 ARID2 ZNF143 BCLAF1 RUNX3 THAP11 KLF11 ENSG00000253515 EPAS1 ENSG00000232696 TMEM247 RN7SL817P ENSG00000284608
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM247 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TMEM247 Gene

Genomic Locations for TMEM247 Gene
chr2:46,479,497-46,484,579
(GRCh38/hg38)
Size:
5,083 bases
Orientation:
Plus strand
chr2:46,656,329-46,711,564
(GRCh37/hg19)

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

Gene Families for TMEM247 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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 Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TMEM247 Gene

Function for TMEM247 Gene

Phenotypes From GWAS Catalog 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

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
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 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM247 Gene

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

Drugs & Compounds for TMEM247 Gene

No Compound Related Data Available

Transcripts for TMEM247 Gene

mRNA/cDNA for TMEM247 Gene

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

Unigene Clusters for TMEM247 Gene

Transmembrane protein 247:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM247 Gene

Orthologs for TMEM247 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TMEM247 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM247 33
  • 97.55 (n)
cow
(Bos Taurus)
Mammalia TMEM247 33
  • 87.06 (n)
dog
(Canis familiaris)
Mammalia TMEM247 33
  • 85.28 (n)
rat
(Rattus norvegicus)
Mammalia Tmem247 33
  • 79.13 (n)
mouse
(Mus musculus)
Mammalia Tmem247 33 16
  • 75.76 (n)
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)
  • lizard (Anolis carolinensis)
  • 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 Variation AA Info Type
rs1000983770 -- 46,480,460(+) C/T coding_sequence_variant, missense_variant
rs1001106785 -- 46,477,609(+) C/T upstream_transcript_variant
rs1001514404 -- 46,484,488(+) A/T downstream_transcript_variant
rs1002127666 -- 46,484,248(+) C/T coding_sequence_variant, missense_variant
rs1002459724 -- 46,479,973(+) T/A intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 LW … Wilson RK (Nature 2005) 3 4 58

Products for TMEM247 Gene

Sources for TMEM247 Gene

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