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Aliases for TMEM40 Gene

Aliases for TMEM40 Gene

  • Transmembrane Protein 40 2 3 5

External Ids for TMEM40 Gene

Summaries for TMEM40 Gene

GeneCards Summary for TMEM40 Gene

TMEM40 (Transmembrane Protein 40) 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 TMEM40 Gene

Genomics for TMEM40 Gene

Regulatory Elements for TMEM40 Gene

Enhancers for TMEM40 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
GH03G012757 1.4 Ensembl ENCODE dbSUPER 9.9 +10.1 10056 3.8 PKNOX1 CBX3 KLF17 ZBTB7B RAD21 YY1 GLIS2 ZNF366 FOS ZNF398 CAND2 MKRN2 TMEM40 CRIP1P1
GH03G012795 1.4 Ensembl ENCODE 9.2 -28.8 -28830 4.7 CREB3L1 DMAP1 FEZF1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 CAND2 TAMM41 MKRN2 ENSG00000272263 TMEM40
GH03G012749 1.4 Ensembl ENCODE dbSUPER 8.8 +17.4 17395 5.0 HDAC1 PKNOX1 ZNF2 RFX5 YY1 SCRT2 FOS SMARCA5 ZNF623 TBX21 CAND2 MKRN2 KRT18P17 TMEM40 CRIP1P1
GH03G012755 1 dbSUPER 9.3 +13.8 13779 0.9 ATF1 FOXA2 CREB3L1 ARNT SIN3A FEZF1 YY1 TCF12 ZNF121 ZNF766 TAMM41 TMEM40 MKRN2 CRIP1P1
GH03G012756 0.8 dbSUPER 9.7 +12.7 12737 1.2 HDAC1 BCOR HDGF ESRRA ZMYM3 YBX1 CDC5L CEBPG IRF9 ZNF766 MKRN2 TMEM40 CRIP1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM40 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM40 Gene

Chromosome:
3
Start:
12,733,525 bp from pter
End:
12,769,457 bp from pter
Size:
35,933 bases
Orientation:
Minus strand

Genomic View for TMEM40 Gene

Genes around TMEM40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM40 Gene

Proteins for TMEM40 Gene

  • Protein details for TMEM40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWA1-TMM40_HUMAN
    Recommended name:
    Transmembrane protein 40
    Protein Accession:
    Q8WWA1
    Secondary Accessions:
    • C9JID5
    • Q8NAL4
    • Q9NUZ4

    Protein attributes for TMEM40 Gene

    Size:
    233 amino acids
    Molecular mass:
    25495 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM40 Gene

Post-translational modifications for TMEM40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM40 Gene

Domains & Families for TMEM40 Gene

Protein Domains for TMEM40 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM40: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM40 Gene

Function for TMEM40 Gene

Phenotypes for TMEM40 Gene

genes like me logo Genes that share phenotypes with TMEM40: view

Animal Model Products

CRISPR Products

Inhibitory RNA 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 TMEM40 Gene

Localization for TMEM40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM40 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 TMEM40 gene
Compartment Confidence
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMEM40 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 TMEM40: view

Pathways & Interactions for TMEM40 Gene

SuperPathways for TMEM40 Gene

No Data Available

Interacting Proteins for TMEM40 Gene

Gene Ontology (GO) - Biological Process for TMEM40 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM40 Gene

Drugs & Compounds for TMEM40 Gene

No Compound Related Data Available

Transcripts for TMEM40 Gene

Unigene Clusters for TMEM40 Gene

Transmembrane protein 40:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM40 Gene

No ASD Table

Relevant External Links for TMEM40 Gene

GeneLoc Exon Structure for
TMEM40
ECgene alternative splicing isoforms for
TMEM40

Expression for TMEM40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM40 Gene

This gene is overexpressed in Esophagus - Mucosa (x20.5), Skin - Sun Exposed (Lower leg) (x6.5), Vagina (x6.5), Skin - Not Sun Exposed (Suprapubic) (x6.1), and Cervix - Ectocervix (x4.7).

Protein differential expression in normal tissues from HIPED for TMEM40 Gene

This gene is overexpressed in Platelet (41.0), Cervix (11.3), and Placenta (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM40 Gene



NURSA nuclear receptor signaling pathways regulating expression of TMEM40 Gene:

TMEM40

SOURCE GeneReport for Unigene cluster for TMEM40 Gene:

Hs.475502

Evidence on tissue expression from TISSUES for TMEM40 Gene

  • Blood(4.2)
genes like me logo Genes that share expression patterns with TMEM40: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM40 Gene

Orthologs for TMEM40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM40 34 35
  • 91.67 (n)
dog
(Canis familiaris)
Mammalia TMEM40 34 35
  • 86.4 (n)
cow
(Bos Taurus)
Mammalia TMEM40 34 35
  • 85.65 (n)
mouse
(Mus musculus)
Mammalia Tmem40 34 16 35
  • 80.42 (n)
rat
(Rattus norvegicus)
Mammalia Tmem40 34
  • 75.58 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM40 35
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM40 35
  • 43 (a)
OneToOne
Species where no ortholog for TMEM40 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)
  • 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 TMEM40 Gene

ENSEMBL:
Gene Tree for TMEM40 (if available)
TreeFam:
Gene Tree for TMEM40 (if available)

Paralogs for TMEM40 Gene

No data available for Paralogs for TMEM40 Gene

Variants for TMEM40 Gene

Sequence variations from dbSNP and Humsavar for TMEM40 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000140898 -- 12,764,452(+) CCTTC(A/C)TGGAG intron-variant
rs1000147868 -- 12,733,762(+) CAAAT(G/T)GCTGA utr-variant-3-prime
rs1000176740 -- 12,749,628(+) ACCAC(A/T)ACTTC intron-variant
rs1000193591 -- 12,764,739(+) CTGAG(A/G)GCTCT intron-variant
rs1000259730 -- 12,735,989(+) CCTGA(A/G)TAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM40 Gene

Variant ID Type Subtype PubMed ID
dgv4686n100 CNV gain 25217958
dgv597n27 CNV gain 19166990
dgv763e201 CNV deletion 23290073
dgv8227n54 CNV gain 21841781
dgv850e199 CNV deletion 23128226
dgv869e214 CNV gain 21293372
esv2751977 CNV gain 17911159
esv3595333 CNV gain 21293372
nsv1112379 CNV deletion 24896259
nsv1147269 CNV deletion 26484159
nsv460434 CNV loss 19166990
nsv470394 CNV gain 18288195
nsv589713 CNV loss 21841781
nsv589714 CNV loss 21841781
nsv7351 OTHER inversion 18451855
nsv818127 CNV gain 17921354
nsv821993 CNV loss 20364138
nsv821994 CNV gain 20364138

Variation tolerance for TMEM40 Gene

Residual Variation Intolerance Score: 53.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM40 Gene

Disorders for TMEM40 Gene

Relevant External Links for TMEM40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM40

No disorders were found for TMEM40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM40 Gene

Publications for TMEM40 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 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. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K. … Vandekerckhove J. (Nat. Biotechnol. 2003) 3 4 64
  4. 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
  5. Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment. (PMID: 19367720) Carrascal M. … Abian J. (J. Proteome Res. 2008) 4 64

Products for TMEM40 Gene

Sources for TMEM40 Gene

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