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Aliases for TMEM47 Gene

Aliases for TMEM47 Gene

  • Transmembrane Protein 47 2 3 5
  • Transmembrane 4 Superfamily Member 10 2 3 4
  • Brain Cell Membrane Protein 1 3 4
  • TM4SF10 3 4
  • BCMP1 3 4
  • VAB-9 3

External Ids for TMEM47 Gene

Previous HGNC Symbols for TMEM47 Gene

  • TM4SF10

Previous GeneCards Identifiers for TMEM47 Gene

  • GC0XM034405
  • GC0XM032387

Summaries for TMEM47 Gene

Entrez Gene Summary for TMEM47 Gene

  • This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]

GeneCards Summary for TMEM47 Gene

TMEM47 (Transmembrane Protein 47) is a Protein Coding gene. Diseases associated with TMEM47 include Non-Syndromic X-Linked Intellectual Disability. An important paralog of this gene is PERP.

UniProtKB/Swiss-Prot for TMEM47 Gene

  • Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity).

Gene Wiki entry for TMEM47 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM47 Gene

Genomics for TMEM47 Gene

Regulatory Elements for TMEM47 Gene

Enhancers for TMEM47 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
GH0XG034653 0.7 ENCODE 11.8 +1.6 1573 4.7 PKNOX1 MXI1 MAZ SP3 TEAD4 MAX USF2 CEBPB E2F1 POLR2A TMEM47 PIR41347
GH0XG034560 0.6 ENCODE 12.3 +96.8 96803 1.5 CTCF ZNF426 ZNF384 ZNF394 ZNF781 RAD21 ZNF555 ZNF34 SMC3 POU5F1 TMEM47 PIR41347 ENSG00000271136
GH0XG035439 0.6 ENCODE 7.1 -782.4 -782422 0.8 STAT3 MAX CEBPB HNF4A ZBTB33 EP300 RFX5 TMEM47 GC0XP035456 GC0XM035122
GH0XG034778 0.5 ENCODE 6.3 -121.9 -121892 1.9 JUND JUN FOS MAFK TMEM47 ENSG00000273704 FAM47B
GH0XG034631 0.4 ENCODE 0.3 +25.3 25290 0.2 ATF2 TMEM47 PIR41347
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM47 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM47 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000245601 1487 4800 PKNOX1 MXI1 MAZ TEAD4 MAX USF2 CEBPB E2F1 POLR2A HNF4A

Genomic Location for TMEM47 Gene

Chromosome:
X
Start:
34,627,064 bp from pter
End:
34,657,288 bp from pter
Size:
30,225 bases
Orientation:
Minus strand

Genomic View for TMEM47 Gene

Genes around TMEM47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM47 Gene

Proteins for TMEM47 Gene

  • Protein details for TMEM47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQJ4-TMM47_HUMAN
    Recommended name:
    Transmembrane protein 47
    Protein Accession:
    Q9BQJ4
    Secondary Accessions:
    • Q5JR44

    Protein attributes for TMEM47 Gene

    Size:
    181 amino acids
    Molecular mass:
    19998 Da
    Quaternary structure:
    • Interacts with CTNNB1, CTNNA1, PRKCI, PARD6B, FYB.

neXtProt entry for TMEM47 Gene

Post-translational modifications for TMEM47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM47 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM47 Gene

Domains & Families for TMEM47 Gene

Protein Domains for TMEM47 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM47 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQJ4

UniProtKB/Swiss-Prot:

TMM47_HUMAN :
  • Belongs to the TMEM47 family.
Family:
  • Belongs to the TMEM47 family.
genes like me logo Genes that share domains with TMEM47: view

No data available for Gene Families for TMEM47 Gene

Function for TMEM47 Gene

Molecular function for TMEM47 Gene

UniProtKB/Swiss-Prot Function:
Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity).

Gene Ontology (GO) - Molecular Function for TMEM47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM47: view

Phenotypes for TMEM47 Gene

GenomeRNAi human phenotypes for TMEM47:
genes like me logo Genes that share phenotypes with TMEM47: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM47 Gene

Localization for TMEM47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM47 Gene

Membrane; Multi-pass membrane protein. Cell junction, adherens junction. Note=Colocalizes with FYB at cell-cell contacts in podocytes. {ECO:0000250 UniProtKB:Q9JJG6}.

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 TMEM47 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for TMEM47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0005911 cell-cell junction IEA --
GO:0005912 adherens junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM47: view

Pathways & Interactions for TMEM47 Gene

SuperPathways for TMEM47 Gene

No Data Available

Interacting Proteins for TMEM47 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000275954%0d%0a9606.ENSP00000368190%0d%0a9606.ENSP00000346671%0d%0a9606.ENSP00000425845%0d%0a9606.ENSP00000257290%0d%0a
Selected Interacting proteins: ENSP00000275954 Q9BQJ4-TMM47_HUMAN for TMEM47 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TMEM47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM47: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM47 Gene

Drugs & Compounds for TMEM47 Gene

No Compound Related Data Available

Transcripts for TMEM47 Gene

mRNA/cDNA for TMEM47 Gene

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

Unigene Clusters for TMEM47 Gene

Transmembrane protein 47:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM47 Gene

No ASD Table

Relevant External Links for TMEM47 Gene

GeneLoc Exon Structure for
TMEM47
ECgene alternative splicing isoforms for
TMEM47

Expression for TMEM47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM47 Gene

mRNA differential expression in normal tissues according to GTEx for TMEM47 Gene

This gene is overexpressed in Artery - Tibial (x4.5) and Artery - Aorta (x4.5).

Protein differential expression in normal tissues from HIPED for TMEM47 Gene

This gene is overexpressed in Heart (20.7), Frontal cortex (9.4), and Fetal heart (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMEM47 Gene



NURSA nuclear receptor signaling pathways regulating expression of TMEM47 Gene:

TMEM47

SOURCE GeneReport for Unigene cluster for TMEM47 Gene:

Hs.8769

mRNA Expression by UniProt/SwissProt for TMEM47 Gene:

Q9BQJ4-TMM47_HUMAN
Tissue specificity: Expressed in adult brain, fetal brain, cerebellum, heart, lung, prostate and thyroid.

Evidence on tissue expression from TISSUES for TMEM47 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with TMEM47: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM47 Gene

Orthologs for TMEM47 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM47 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM47 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM47 34 35
  • 96.87 (n)
cow
(Bos Taurus)
Mammalia TMEM47 34 35
  • 96.13 (n)
mouse
(Mus musculus)
Mammalia Tmem47 34 16 35
  • 93.19 (n)
rat
(Rattus norvegicus)
Mammalia Tmem47 34
  • 92.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM47 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM47 34 35
  • 86.92 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM47 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem47 34
  • 79.33 (n)
MGC75754 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10079 34
zebrafish
(Danio rerio)
Actinopterygii tmem47 34 35
  • 72.93 (n)
wufb99e01 34
Species where no ortholog for TMEM47 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TMEM47 Gene

ENSEMBL:
Gene Tree for TMEM47 (if available)
TreeFam:
Gene Tree for TMEM47 (if available)

Paralogs for TMEM47 Gene

Paralogs for TMEM47 Gene

(1) SIMAP similar genes for TMEM47 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TMEM47 Gene

genes like me logo Genes that share paralogs with TMEM47: view

Variants for TMEM47 Gene

Sequence variations from dbSNP and Humsavar for TMEM47 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000157726 -- 34,633,699(+) TTTAC(C/G)TACGC intron-variant
rs1000233202 -- 34,642,577(+) ATTTT(C/T)TTCTA intron-variant
rs1000668717 -- 34,642,389(+) TTCCT(A/C)ATCGC intron-variant
rs1000797007 -- 34,634,016(+) ATTCA(C/T)AGATG intron-variant
rs1000844074 -- 34,654,001(+) TACGG(-/CTGA)CTGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM47 Gene

Variant ID Type Subtype PubMed ID
esv2664433 CNV deletion 23128226
nsv519268 CNV gain 19592680
nsv6857 CNV insertion 18451855

Variation tolerance for TMEM47 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM47 Gene

Human Gene Mutation Database (HGMD)
TMEM47
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM47 Gene

Disorders for TMEM47 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM47 Gene - From: GeneCards

Disorder Aliases PubMed IDs
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM47

Genetic Association Database (GAD)
TMEM47
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM47
genes like me logo Genes that share disorders with TMEM47: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM47 Gene

Publications for TMEM47 Gene

  1. Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the Claudins. (PMID: 11472633) Christophe-Hobertus C. … Christophe D. (BMC Genomics 2001) 2 3 22 64
  2. Vertebrate Claudin/PMP22/EMP22/MP20 family protein TMEM47 regulates epithelial cell junction maturation and morphogenesis. (PMID: 26990309) Dong Y. … Simske J.S. (Dev. Dyn. 2016) 2 3 64
  3. Novel markers of subclinical disease for Ewing family tumors from gene expression profiling. (PMID: 18056173) Cheung I.Y. … Cheung N.K. (Clin. Cancer Res. 2007) 3 22 64
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  5. TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. (PMID: 15345028) Christophe-Hobertus C. … Christophe D. (BMC Med. Genet. 2004) 3 22 64

Products for TMEM47 Gene

Sources for TMEM47 Gene

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