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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 Domain-Containing Protein 1 3 4
  • Transmembrane And Coiled-Coil Domains 4 2 3
  • Xenogeneic Cross-Immune Protein PCIA3 3 4
  • CLAC Channel 3 4
  • TMCC4 3 4
  • Transmembrane And Coiled-Coil Domains Protein 4 4
  • Calcium Load-Activated Calcium Channel 3
  • 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 Open-Angle Glaucoma.

UniProtKB/Swiss-Prot for TMCO1 Gene

  • Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239).

Gene Wiki entry for TMCO1 Gene

No data available for CIViC summary , 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 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
GH01G165852 2 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -28.8 -28830 7.7 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D LOC284685 UCK2 TMCO1 LOC100147773 ENSG00000236364 RPS13P1 LOC105371586
GH01G165894 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -70.2 -70239 7.5 PKNOX1 FOXA2 ZSCAN4 SIN3A FEZF1 RAD21 GATA4 GATA2 FOS HMG20B UCK2 ENSG00000236364 TMCO1 LOC100147773 LOC105371586
GH01G165870 1.5 Ensembl ENCODE dbSUPER 11.5 -43.6 -43608 1.6 FOXA2 PKNOX1 MLX ARNT WRNIP1 ARID4B YBX1 ZNF48 ZNF143 REST UCK2 TMCO1 LOC100147773 ENSG00000236364
GH01G165884 1.5 Ensembl ENCODE dbSUPER 11.5 -56.9 -56924 2.3 PKNOX1 ATF1 ZNF493 ZFP64 SIN3A ZNF121 FOS KLF7 ZNF202 REST DUTP6 LOC284685 UCK2 TMCO1 LOC100147773 ENSG00000236364 LOC105371586
GH01G165877 1.1 ENCODE dbSUPER 10.9 -50.4 -50441 1.3 PKNOX1 CBX3 TBL1XR1 BMI1 FEZF1 RFX5 GATA2 CBX5 RELB ETV6 ENSG00000236364 UCK2 TMCO1 LOC100147773 LOC105371586
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000015118 -645 2401 HDGF FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766

Genomic Location for TMCO1 Gene

Chromosome:
1
Start:
165,724,291 bp from pter
End:
165,827,755 bp from pter
Size:
103,465 bases
Orientation:
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:
    Q9UM00-TMCO1_HUMAN
    Recommended name:
    Calcium load-activated calcium channel
    Protein Accession:
    Q9UM00
    Secondary Accessions:
    • B2REA0
    • O75545
    • Q9BZS3
    • Q9BZU8

    Protein attributes for TMCO1 Gene

    Size:
    188 amino acids
    Molecular mass:
    21175 Da
    Quaternary structure:
    • Homodimer and homotetramer (PubMed:27212239). Homodimer under resting conditions; forms homotetramers following and endoplasmic reticulum calcium overload (PubMed:27212239).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for TMCO1 Gene

Post-translational modifications for TMCO1 Gene

  • Ubiquitination at Lys116 and posLast=186186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMCO1 Gene

Domains & Families for TMCO1 Gene

Protein Domains for TMCO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMCO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UM00

UniProtKB/Swiss-Prot:

TMCO1_HUMAN :
  • Belongs to the TMCO1 family.
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

Molecular function for TMCO1 Gene

UniProtKB/Swiss-Prot Function:
Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239).

Gene Ontology (GO) - Molecular Function for TMCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IEA,IDA 27212239
genes like me logo Genes that share ontologies with TMCO1: view
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

CRISPR Products

miRNA for TMCO1 Gene

miRTarBase miRNAs that target TMCO1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. Note=The first transmembrane region is required for localization to the endoplasmic reticulum (PubMed:27212239). A publication reported localization in cytoplasm and nucleus (PubMed:22714896). Nuclear localization is however in contradiction with two other reports (PubMed:10393320, PubMed:27212239). {ECO:0000269 PubMed:10393320, ECO:0000269 PubMed:22714896, ECO:0000269 PubMed:27212239}.

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 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:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006983 ER overload response IDA 27212239
GO:0032469 endoplasmic reticulum calcium ion homeostasis IDA,IEA 27212239
genes like me logo Genes that share ontologies with TMCO1: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
TMCO1
ECgene alternative splicing isoforms for
TMCO1

Expression for TMCO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TMCO1 Gene



Protein tissue co-expression partners for TMCO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMCO1 Gene:

TMCO1

SOURCE GeneReport for Unigene cluster for TMCO1 Gene:

Hs.31498

mRNA Expression by UniProt/SwissProt for TMCO1 Gene:

Q9UM00-TMCO1_HUMAN
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 (PubMed:10393320, PubMed:20018682). Present in most tissues in the eye, including the trabecular meshwork and retina (at protein level) (PubMed:22714896).

Evidence on tissue expression from TISSUES for TMCO1 Gene

  • Nervous system(4.9)
  • Lung(3.7)
  • Kidney(3.5)
  • Eye(2.7)
  • Pancreas(2.6)
  • Liver(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMCO1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TMCO1: view

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
dog
(Canis familiaris)
Mammalia TMCO1 35
  • 100 (a)
OneToOne
LOC478992 34
  • 87.76 (n)
chimpanzee
(Pan troglodytes)
Mammalia TMCO1 34 35
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TMCO1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMCO1 34 35
  • 93.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMCO1 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmco1 34
  • 91.13 (n)
mouse
(Mus musculus)
Mammalia Tmco1 34 16 35
  • 90.6 (n)
chicken
(Gallus gallus)
Aves TMCO1 34 35
  • 83.87 (n)
lizard
(Anolis carolinensis)
Reptilia TMCO1 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmco1 34
  • 78.72 (n)
Str.6955 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25231 34
zebrafish
(Danio rerio)
Actinopterygii tmco1 34 35
  • 76.6 (n)
sbcb729 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009081 34
  • 69.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10470 34 35
  • 65.93 (n)
worm
(Caenorhabditis elegans)
Secernentea F22B5.10 34 35
  • 61.99 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06660 34
  • 53.37 (n)
rice
(Oryza sativa)
Liliopsida Os03g0721400 34
  • 49.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5121 35
  • 69 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3701 34
Species where no ortholog for TMCO1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for TMCO1 (if available)
TreeFam:
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
rs201213306 Pathogenic 165,752,166(+) CATTC(A/G)AACCT nc-transcript-variant, reference, stop-gained
rs372701032 Pathogenic 165,752,099(+) ACACT(C/G/T)ACATG intron-variant
rs397518448 Pathogenic 165,768,765(-) TGCAG(-/AG)ACGAA nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs765824628 Pathogenic 165,759,546(+) TTGTC(A/G)ACCAG nc-transcript-variant, reference, stop-gained
rs786204789 Pathogenic 165,768,250(-) GTCCT(-/GGTT)TACAG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv218n106 CNV deletion 24896259
esv2177447 CNV deletion 18987734
esv2520993 CNV deletion 19546169
esv2719106 CNV deletion 23290073
esv3542056 CNV deletion 23714750
esv5064 CNV loss 18987735
esv6923 CNV loss 19470904
nsv1079026 CNV deletion 25765185
nsv159176 CNV deletion 16902084
nsv518886 CNV gain 19592680
nsv957287 CNV deletion 24416366

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)
TMCO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMCO1

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

Disorders for TMCO1 Gene

MalaCards: The human disease database

(4) 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
open-angle glaucoma
  • glaucoma simplex
sprengel deformity
  • congenital elevation of the scapula
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association - COSMIC cancer census association via MalaCards
Search TMCO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TMCO1_HUMAN
  • 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, ECO:0000269 PubMed:23320496, ECO:0000269 PubMed:24194475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Glaucoma, primary open angle (POAG) [MIM:137760]: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. {ECO:0000269 PubMed:21532571, ECO:0000269 PubMed:22714896}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for TMCO1

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

No data available for Genatlas for TMCO1 Gene

Publications for TMCO1 Gene

  1. TMCO1 is an ER Ca(2+) load-activated Ca(2+) channel. (PMID: 27212239) Wang Q.C. … Tang T.S. (Cell 2016) 3 4 64
  2. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. (PMID: 24194475) Alanay Y. … Akarsu N.A. (Am. J. Med. Genet. A 2014) 3 4 64
  3. Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye. (PMID: 22714896) Sharma S. … Craig J.E. (Invest. Ophthalmol. Vis. Sci. 2012) 3 4 64
  4. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. (PMID: 21532571) Burdon K.P. … Craig J.E. (Nat. Genet. 2011) 3 4 64
  5. 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 64

Products for TMCO1 Gene

Sources for TMCO1 Gene

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