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Aliases for TMCO1 Gene

Aliases for TMCO1 Gene

  • Transmembrane And Coiled-Coil Domains 1 2 3 5
  • Transmembrane And Coiled-Coil Domains 4 2 3
  • Xenogeneic Cross-Immune Protein PCIA3 3 4
  • TMCC4 3 4
  • Transmembrane And Coiled-Coil Domains Protein 4 4
  • Putative Membrane Protein 3
  • PNAS-136 3
  • HP10122 3
  • PCIA3 3

External Ids for TMCO1 Gene

Previous HGNC Symbols for TMCO1 Gene

  • TMCC4

Previous GeneCards Identifiers for TMCO1 Gene

  • GC01M162429
  • GC01M163962
  • GC01M165693
  • GC01M136941

Summaries for TMCO1 Gene

Entrez Gene Summary for TMCO1 Gene

  • This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

GeneCards Summary for TMCO1 Gene

TMCO1 (Transmembrane And Coiled-Coil Domains 1) is a Protein Coding gene. Diseases associated with TMCO1 include Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome and Sprengel Deformity.

Gene Wiki entry for TMCO1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMCO1 Gene

Genomics for TMCO1 Gene

Regulatory Elements for TMCO1 Gene

Enhancers for TMCO1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMCO1 on UCSC Golden Path with GeneCards custom track

Promoters for TMCO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMCO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMCO1 Gene

165,724,291 bp from pter
165,827,755 bp from pter
103,465 bases
Minus strand

Genomic View for TMCO1 Gene

Genes around TMCO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMCO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMCO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMCO1 Gene

Proteins for TMCO1 Gene

  • Protein details for TMCO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane and coiled-coil domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B2REA0
    • O75545
    • Q9BZS3
    • Q9BZU8

    Protein attributes for TMCO1 Gene

    188 amino acids
    Molecular mass:
    21175 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC25388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAK07514.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAK07549.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for TMCO1 Gene


neXtProt entry for TMCO1 Gene

Proteomics data for TMCO1 Gene at MOPED

Post-translational modifications for TMCO1 Gene

  • Ubiquitination at Lys 116 and Lys 186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMCO1 Gene

Domains & Families for TMCO1 Gene

Protein Domains for TMCO1 Gene


Suggested Antigen Peptide Sequences for TMCO1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TMCO1 family.
  • Belongs to the TMCO1 family.
genes like me logo Genes that share domains with TMCO1: view

No data available for Gene Families for TMCO1 Gene

Function for TMCO1 Gene

Phenotypes for TMCO1 Gene

genes like me logo Genes that share phenotypes with TMCO1: view

Human Phenotype Ontology for TMCO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TMCO1

miRNA for TMCO1 Gene

miRTarBase miRNAs that target TMCO1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TMCO1 Gene

Localization for TMCO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMCO1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for TMCO1 Gene COMPARTMENTS Subcellular localization image for TMCO1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
golgi apparatus 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for TMCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMCO1: view

Pathways & Interactions for TMCO1 Gene

SuperPathways for TMCO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMCO1 Gene


No data available for Pathways by source and SIGNOR curated interactions for TMCO1 Gene

Drugs & Compounds for TMCO1 Gene

No Compound Related Data Available

Transcripts for TMCO1 Gene

mRNA/cDNA for TMCO1 Gene

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

Unigene Clusters for TMCO1 Gene

Transmembrane and coiled-coil domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMCO1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d
SP1: - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: -

Relevant External Links for TMCO1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMCO1 Gene

mRNA expression in normal human tissues for TMCO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMCO1 Gene

This gene is overexpressed in Nasal epithelium (50.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMCO1 Gene

SOURCE GeneReport for Unigene cluster for TMCO1 Gene Hs.31498

mRNA Expression by UniProt/SwissProt for TMCO1 Gene

Tissue specificity: Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney.
genes like me logo Genes that share expression patterns with TMCO1: view

Protein tissue co-expression partners for TMCO1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for TMCO1 Gene

Orthologs for TMCO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMCO1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TMCO1 35
  • 93.62 (n)
  • 100 (a)
TMCO1 36
  • 100 (a)
(Canis familiaris)
Mammalia LOC478992 35
  • 87.76 (n)
  • 92.37 (a)
TMCO1 36
  • 100 (a)
(Mus musculus)
Mammalia Tmco1 35
  • 90.6 (n)
  • 100 (a)
Tmco1 16
Tmco1 36
  • 100 (a)
(Pan troglodytes)
Mammalia TMCO1 35
  • 99.72 (n)
  • 99.16 (a)
TMCO1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tmco1 35
  • 91.13 (n)
  • 100 (a)
(Monodelphis domestica)
Mammalia TMCO1 36
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia TMCO1 36
  • 93 (a)
(Gallus gallus)
Aves TMCO1 35
  • 83.87 (n)
  • 96.81 (a)
TMCO1 36
  • 97 (a)
(Anolis carolinensis)
Reptilia TMCO1 36
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6955 35
tmco1 35
  • 78.72 (n)
  • 94.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25231 35
(Danio rerio)
Actinopterygii sbcb729 35
tmco1 35
  • 76.6 (n)
  • 95.21 (a)
tmco1 36
  • 95 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009081 35
  • 69.85 (n)
  • 78.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10470 35
  • 65.93 (n)
  • 75.82 (a)
CG10470 36
  • 75 (a)
(Caenorhabditis elegans)
Secernentea F22B5.10 35
  • 61.99 (n)
  • 64.04 (a)
F22B5.10 36
  • 61 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06660 35
  • 53.37 (n)
  • 48.88 (a)
(Oryza sativa)
Liliopsida Os03g0721400 35
  • 49.72 (n)
  • 44.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3701 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5121 36
  • 69 (a)
Species with no ortholog for TMCO1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for TMCO1 Gene

Gene Tree for TMCO1 (if available)
Gene Tree for TMCO1 (if available)

Paralogs for TMCO1 Gene

(1) SIMAP similar genes for TMCO1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with TMCO1: view

No data available for Paralogs for TMCO1 Gene

Variants for TMCO1 Gene

Sequence variations from dbSNP and Humsavar for TMCO1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs14223 -- 165,724,626(+) ctagt(G/T)attct nc-transcript-variant, utr-variant-3-prime
rs1063701 -- 165,727,540(-) ATGTA(A/C)AAGGA nc-transcript-variant, utr-variant-3-prime
rs1063702 -- 165,727,537(-) TACAA(A/G)GAGAG nc-transcript-variant, utr-variant-3-prime
rs1913845 -- 165,726,342(+) GACTA(C/T)TTTGT nc-transcript-variant, utr-variant-3-prime
rs1913846 -- 165,726,489(+) AGGCT(C/T)TACAC nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TMCO1 Gene

Variant ID Type Subtype PubMed ID
nsv518886 CNV Gain 19592680
esv2520993 CNV Deletion 19546169
esv2177447 CNV Deletion 18987734
esv2719106 CNV Deletion 23290073
esv5064 CNV Deletion 18987735
esv6923 CNV Loss 19470904
nsv159176 CNV Loss 16902084

Variation tolerance for TMCO1 Gene

Residual Variation Intolerance Score: 40% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMCO1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMCO1 Gene

Disorders for TMCO1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TMCO1 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
  • cerebrofaciothoracic dysplasia
sprengel deformity
  • congenital elevation of the scapula
open-angle glaucoma
  • glaucoma simplex
glaucoma 1, open angle, e
  • primary open angle glaucoma
low tension glaucoma
  • normal tension glaucoma
- elite association - COSMIC cancer census association via MalaCards
Search TMCO1 in MalaCards View complete list of genes associated with diseases


  • Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR) [MIM:213980]: A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. {ECO:0000269 PubMed:20018682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMCO1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TMCO1: view

No data available for Genatlas for TMCO1 Gene

Publications for TMCO1 Gene

  1. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. (PMID: 20018682) Xin B. … Wang H. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 67
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  4. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for TMCO1 Gene

Sources for TMCO1 Gene