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Aliases for TMCO3 Gene

Aliases for TMCO3 Gene

  • Transmembrane And Coiled-Coil Domains 3 2 3 5
  • Putative LAG1-Interacting Protein 3 4
  • C13orf11 3 4
  • Transmembrane And Coiled-Coil Domain-Containing Protein 3 3
  • Chromosome 13 Open Reading Frame 11 2

External Ids for TMCO3 Gene

Previous HGNC Symbols for TMCO3 Gene

  • C13orf11

Previous GeneCards Identifiers for TMCO3 Gene

  • GC13P113194
  • GC13P114145
  • GC13P094584

Summaries for TMCO3 Gene

Entrez Gene Summary for TMCO3 Gene

  • This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]

GeneCards Summary for TMCO3 Gene

TMCO3 (Transmembrane And Coiled-Coil Domains 3) is a Protein Coding gene. Diseases associated with TMCO3 include Cornea Guttata With Anterior Polar Cataract. GO annotations related to this gene include solute:proton antiporter activity.

UniProtKB/Swiss-Prot for TMCO3 Gene

  • Probable Na(+)/H(+) antiporter.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMCO3 Gene

Genomics for TMCO3 Gene

Regulatory Elements for TMCO3 Gene

Enhancers for TMCO3 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
GH13G113489 1.8 FANTOM5 Ensembl ENCODE 34.4 +1.8 1837 7.5 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 TMCO3 GRTP1 DCUN1D2-AS ADPRHL1 GRTP1-AS1 F7 DCUN1D2 F10 PROZ ENSG00000276916
GH13G113507 1.3 FANTOM5 Ensembl ENCODE 32.4 +17.2 17168 1.4 SOX13 TFAP4 FOXA2 ARID4B THRB ZNF48 SCRT2 NR2F6 SOX5 SCRT1 TMCO3 DCUN1D2-AS DCUN1D2 LAMP1 ENSG00000276916
GH13G113544 1.1 Ensembl ENCODE 36.2 +55.5 55503 4.9 ARID4B KLF17 ZNF48 RARA SCRT2 EGR2 ZHX2 REST NR2F2 ZFP69B TMCO3 DCUN1D2 ENSG00000267868 ENSG00000276248 TFDP1
GH13G113505 0.8 ENCODE 32.4 +15.2 15167 1.5 HDGF ZSCAN4 KLF17 MAX GLI4 ZIC2 ZNF2 ZFHX2 ZNF316 ZBTB48 TMCO3 DCUN1D2-AS DCUN1D2 ENSG00000276916
GH13G113531 0.6 ENCODE 37.4 +42.0 41957 3.8 ZNF680 BCL11A POLR2A TEAD4 RBBP5 DPF2 TCF7L2 TMCO3 DCUN1D2 DCUN1D2-AS ADPRHL1 ENSG00000276248 TFDP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMCO3 on UCSC Golden Path with GeneCards custom track

Promoters for TMCO3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066142 7 2401 HDGF HNRNPUL1 CREB3L1 ARID4B SIN3A ZNF2 ZNF207 ZNF143 SP3 SP5

Genomic Location for TMCO3 Gene

Chromosome:
13
Start:
113,490,993 bp from pter
End:
113,554,590 bp from pter
Size:
63,598 bases
Orientation:
Plus strand

Genomic View for TMCO3 Gene

Genes around TMCO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMCO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMCO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMCO3 Gene

Proteins for TMCO3 Gene

  • Protein details for TMCO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWJ1-TMCO3_HUMAN
    Recommended name:
    Transmembrane and coiled-coil domain-containing protein 3
    Protein Accession:
    Q6UWJ1
    Secondary Accessions:
    • Q5JSB1
    • Q6NUN1
    • Q8NG29
    • Q8TCI6
    • Q96EA6
    • Q9NWT2

    Protein attributes for TMCO3 Gene

    Size:
    677 amino acids
    Molecular mass:
    75598 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM92892.1; Type=Frameshift; Positions=367, 378; Evidence={ECO:0000305}; Sequence=BAB85074.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMCO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMCO3 Gene

Post-translational modifications for TMCO3 Gene

  • Glycosylation at isoforms=2, 3104, Asn206, and Asn230
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMCO3 Gene

Domains & Families for TMCO3 Gene

Protein Domains for TMCO3 Gene

Suggested Antigen Peptide Sequences for TMCO3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UWJ1

UniProtKB/Swiss-Prot:

TMCO3_HUMAN :
  • Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) family.
Family:
  • Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) family.
genes like me logo Genes that share domains with TMCO3: view

No data available for Gene Families for TMCO3 Gene

Function for TMCO3 Gene

Molecular function for TMCO3 Gene

UniProtKB/Swiss-Prot Function:
Probable Na(+)/H(+) antiporter.

Gene Ontology (GO) - Molecular Function for TMCO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
GO:0022890 inorganic cation transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with TMCO3: view
genes like me logo Genes that share phenotypes with TMCO3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMCO3

CRISPR Products

miRNA for TMCO3 Gene

miRTarBase miRNAs that target TMCO3

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMCO3 Gene

Localization for TMCO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMCO3 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 TMCO3 gene
Compartment Confidence
plasma membrane 3
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMCO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA,IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMCO3: view

Pathways & Interactions for TMCO3 Gene

SuperPathways for TMCO3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMCO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0098655 cation transmembrane transport IEA --
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMCO3: view

No data available for Pathways by source and SIGNOR curated interactions for TMCO3 Gene

Drugs & Compounds for TMCO3 Gene

No Compound Related Data Available

Transcripts for TMCO3 Gene

Unigene Clusters for TMCO3 Gene

Transmembrane and coiled-coil domains 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMCO3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - - - - - - -
SP4:
SP5: - - - - - - - -
SP6:
SP7: - - - - -
SP8: - -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

ExUns: 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d · 20e ^ 21 ^ 22a · 22b · 22c ^ 23
SP1: -
SP2:
SP3: -
SP4: - - - - -
SP5:
SP6:
SP7: -
SP8: -
SP9: -
SP10: - - -
SP11: -
SP12: - -
SP13:
SP14:
SP15:

Relevant External Links for TMCO3 Gene

GeneLoc Exon Structure for
TMCO3
ECgene alternative splicing isoforms for
TMCO3

Expression for TMCO3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMCO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMCO3 Gene

This gene is overexpressed in Adrenal (61.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMCO3 Gene



Protein tissue co-expression partners for TMCO3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMCO3 Gene:

TMCO3

SOURCE GeneReport for Unigene cluster for TMCO3 Gene:

Hs.317593

mRNA Expression by UniProt/SwissProt for TMCO3 Gene:

Q6UWJ1-TMCO3_HUMAN
Tissue specificity: Expressed in the cornea, lens capsule and choroid-retinal pigment epithelium (at protein level).

Evidence on tissue expression from TISSUES for TMCO3 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TMCO3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMCO3 Gene

Orthologs for TMCO3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMCO3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMCO3 34 35
  • 99.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMCO3 35
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMCO3 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMCO3 34 35
  • 83.8 (n)
mouse
(Mus musculus)
Mammalia Tmco3 34 16 35
  • 83.16 (n)
rat
(Rattus norvegicus)
Mammalia Tmco3 34
  • 82.03 (n)
cow
(Bos Taurus)
Mammalia TMCO3 34 35
  • 77.35 (n)
chicken
(Gallus gallus)
Aves TMCO3 34 35
  • 76.97 (n)
lizard
(Anolis carolinensis)
Reptilia TMCO3 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmco3 34
  • 73.1 (n)
zebrafish
(Danio rerio)
Actinopterygii tmco3 34 35
  • 67.3 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons KEA5 34
  • 44.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for TMCO3 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)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMCO3 Gene

ENSEMBL:
Gene Tree for TMCO3 (if available)
TreeFam:
Gene Tree for TMCO3 (if available)

Paralogs for TMCO3 Gene

No data available for Paralogs for TMCO3 Gene

Variants for TMCO3 Gene

Sequence variations from dbSNP and Humsavar for TMCO3 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs886039242 Uncertain significance 113,491,225(+) CCGCG(A/G)AACGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000018980 -- 113,539,214(+) GACCC(A/G)GGACC intron-variant
rs1000020608 -- 113,511,891(+) AGTGC(A/C)CGGTG intron-variant, utr-variant-3-prime
rs1000051499 -- 113,538,967(+) CGCTT(C/T)CTCTC intron-variant
rs1000097046 -- 113,501,498(+) CACTG(C/T)CCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMCO3 Gene

Variant ID Type Subtype PubMed ID
dgv122e215 CNV deletion 23714750
dgv254e201 CNV deletion 23290073
dgv255e201 CNV deletion 23290073
dgv376e214 CNV loss 21293372
dgv585e212 CNV loss 25503493
dgv586e212 CNV loss 25503493
esv22070 CNV loss 19812545
esv2293160 CNV deletion 18987734
esv2662301 CNV deletion 23128226
esv2665668 CNV deletion 23128226
esv2674514 CNV deletion 23128226
esv2748299 CNV deletion 23290073
esv2748300 CNV deletion 23290073
esv2748301 CNV deletion 23290073
esv2748302 CNV deletion 23290073
esv2748303 CNV deletion 23290073
esv2748304 CNV deletion 23290073
esv2748305 CNV deletion 23290073
esv2748306 CNV deletion 23290073
esv2748307 CNV deletion 23290073
esv2748309 CNV deletion 23290073
esv2748310 CNV deletion 23290073
esv2748311 CNV deletion 23290073
esv2748312 CNV deletion 23290073
esv2748313 CNV deletion 23290073
esv2748314 CNV deletion 23290073
esv2748315 CNV deletion 23290073
esv2748316 CNV deletion 23290073
esv2748318 CNV deletion 23290073
esv2748321 CNV deletion 23290073
esv2748322 CNV deletion 23290073
esv2748323 CNV deletion 23290073
esv2748324 CNV deletion 23290073
esv2759970 CNV loss 17122850
esv3356802 CNV duplication 20981092
esv3359380 CNV duplication 20981092
esv3441306 CNV duplication 20981092
esv3551151 CNV deletion 23714750
esv3580917 CNV loss 25503493
nsv1035248 CNV loss 25217958
nsv1041228 CNV gain 25217958
nsv1048814 CNV gain 25217958
nsv1053362 CNV gain 25217958
nsv1070620 CNV deletion 25765185
nsv1112268 CNV deletion 24896259
nsv1112269 CNV deletion 24896259
nsv1115721 CNV deletion 24896259
nsv1115726 CNV deletion 24896259
nsv1121502 CNV deletion 24896259
nsv1121868 CNV deletion 24896259
nsv1140128 CNV insertion 24896259
nsv1150828 CNV deletion 26484159
nsv563380 CNV loss 21841781

Variation tolerance for TMCO3 Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.20; 80.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMCO3 Gene

Human Gene Mutation Database (HGMD)
TMCO3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMCO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMCO3 Gene

Disorders for TMCO3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMCO3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cornea guttata with anterior polar cataract
  • familial congenital cornea guttata with anterior polar cataracts
- elite association - COSMIC cancer census association via MalaCards
Search TMCO3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TMCO3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMCO3
genes like me logo Genes that share disorders with TMCO3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMCO3 Gene

Publications for TMCO3 Gene

  1. Mutations in the TMCO3 gene are associated with cornea guttata and anterior polar cataract. (PMID: 27484837) Chen P. … Huang Y. (Sci. Rep. 2016) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64
  4. 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
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for TMCO3 Gene

Sources for TMCO3 Gene

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