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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 Cataract. Gene Ontology (GO) annotations related to this gene include solute:proton antiporter activity.

UniProtKB/Swiss-Prot for TMCO3 Gene

  • Probable Na(+)/H(+) antiporter.

Additional gene information for TMCO3 Gene

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

GeneHancer (GH) Regulatory Elements for TMCO3 Gene

Promoters and enhancers for TMCO3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I113544 Enhancer 1 Ensembl ENCODE 36.2 +55.5 55502 4.9 FOXA2 ARID4B KLF17 ZNF48 RARA RCOR1 EGR2 ZHX2 NR2F2 ZFP69B TMCO3 DCUN1D2 ENSG00000267868 ENSG00000276248 TFDP1
GH13I113507 Enhancer 0.8 FANTOM5 Ensembl ENCODE 32.4 +17.2 17167 1.4 SCRT1 SCRT2 TMCO3 DCUN1D2-AS DCUN1D2 LAMP1 ENSG00000276916 GC13M113076
GH13I113505 Enhancer 0.7 ENCODE 32.4 +15.2 15166 1.5 HDGF ZSCAN4 KLF17 MAX GLI4 ZIC2 ZNF2 ZFHX2 ZNF316 ZBTB48 TMCO3 DCUN1D2-AS DCUN1D2 ENSG00000276916 GC13M113076
GH13I113583 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 +94.1 94055 2.5 ARID4B SIN3A DMAP1 GLI4 ZNF2 ZNF766 GLIS2 ARID2 ZNF143 ATF7 TFDP1 CDC16 TUBGCP3 GRK1 PCID2 GAS6 GAS6-AS1 TMCO3 PIR60549
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMCO3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMCO3 gene promoter:

Genomic Locations for TMCO3 Gene

Genomic Locations for TMCO3 Gene
63,598 bases
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:
    Recommended name:
    Transmembrane and coiled-coil domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • Q5JSB1
    • Q6NUN1
    • Q8NG29
    • Q8TCI6
    • Q96EA6
    • Q9NWT2

    Protein attributes for TMCO3 Gene

    677 amino acids
    Molecular mass:
    75598 Da
    Quaternary structure:
    No Data Available
    • 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


neXtProt entry for TMCO3 Gene

Post-translational modifications for TMCO3 Gene

  • Glycosylation at posLast=104104, isoforms=2, 3206, and posLast=230230
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMCO3 Gene

Domains & Families for TMCO3 Gene

Gene Families for TMCO3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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



  • Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) 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

Function for TMCO3 Gene

Molecular function for TMCO3 Gene

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

Phenotypes From GWAS Catalog for TMCO3 Gene

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

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

Subcellular locations from the

Human Protein Atlas (HPA)

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: - - - - - - - - - -
SP5: - - - - - - - -
SP7: - - - - -
SP8: - -
SP9: -

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

Relevant External Links for TMCO3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for TMCO3 Gene:


mRNA Expression by UniProt/SwissProt for TMCO3 Gene:

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

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
(Pan troglodytes)
Mammalia TMCO3 33 34
  • 99.21 (n)
(Ornithorhynchus anatinus)
Mammalia TMCO3 34
  • 87 (a)
(Monodelphis domestica)
Mammalia TMCO3 34
  • 86 (a)
(Canis familiaris)
Mammalia TMCO3 33 34
  • 83.8 (n)
(Mus musculus)
Mammalia Tmco3 33 16 34
  • 83.16 (n)
(Rattus norvegicus)
Mammalia Tmco3 33
  • 82.03 (n)
(Bos Taurus)
Mammalia TMCO3 33 34
  • 77.35 (n)
(Gallus gallus)
Aves TMCO3 33 34
  • 76.97 (n)
(Anolis carolinensis)
Reptilia TMCO3 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmco3 33
  • 73.1 (n)
(Danio rerio)
Actinopterygii tmco3 33 34
  • 67.3 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons KEA5 33
  • 44.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
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

Gene Tree for TMCO3 (if available)
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 Variation AA Info Type
rs886039242 uncertain-significance, not provided 113,491,225(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1000018980 -- 113,539,214(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000020608 -- 113,511,891(+) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000051499 -- 113,538,967(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000097046 -- 113,501,498(+) C/T 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)

Additional Variant Information for TMCO3 Gene

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

SNP Genotyping and Copy Number Assay Products

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
  • cataracts
- elite association - COSMIC cancer census association via MalaCards
Search TMCO3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 (Scientific reports 2016) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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 HF … Gray A (Genome research 2003) 3 4 58

Products for TMCO3 Gene

Sources for TMCO3 Gene

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