Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54499
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane and coiled-coil domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMCO1
Synonyms (NCBI Gene) Gene synonyms aliases
CFSMR1, HP10122, PCIA3, PNAS-136, TMCC4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CFSMR1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alt
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs201213306 G>A Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs372701032 C>G,T Pathogenic Intron variant
rs765379963 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs765824628 G>A Pathogenic, uncertain-significance Stop gained, non coding transcript variant, coding sequence variant
rs1247427997 G>A,T Pathogenic Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005185 hsa-miR-30a-5p pSILAC 18668040
MIRT005185 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT717025 hsa-miR-2681-3p HITS-CLIP 19536157
MIRT717024 hsa-miR-96-3p HITS-CLIP 19536157
MIRT717023 hsa-miR-1250-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005262 Function Calcium channel activity IBA 21873635
GO:0005262 Function Calcium channel activity IDA 27212239
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005783 Component Endoplasmic reticulum IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614123 18188 ENSG00000143183
Protein
UniProt ID Q9UM00
Protein name Calcium load-activated calcium channel (CLAC channel) (GEL complex subunit TMCO1) (Transmembrane and coiled-coil domain-containing protein 1) (Transmembrane and coiled-coil domains protein 4) (Xenogeneic cross-immune protein PCIA3)
Protein function Endoplasmic reticulum (ER) calcium-selective channel preventing intracellular Ca2(+) stores from overfilling and maintaining calcium homeostasis in the ER (PubMed:27212239). In response to endoplasmic reticulum (ER) Ca2(+) overloading, assembles
PDB 6W6L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01956 EMC3_TMCO1 49 217 Integral membrane protein EMC3/TMCO1-like Family
Tissue specificity 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
Sequence
Sequence length 239
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Cleft palate and bilateral cleft lip Cleft palate and bilateral cleft lip ClinVar
Dysmorphism craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 24387768
Cerebrofaciothoracic Dysplasia Associate 30556256
Colorectal Neoplasms Associate 37527660
Complement Component 3 Deficiency Autosomal Recessive Associate 36671475
Exfoliation Syndrome Associate 25489222
Genetic Diseases Inborn Associate 20018682
Glaucoma Associate 29401312, 37527660
Glaucoma Angle Closure Associate 25489222
Glaucoma Open Angle Associate 25414181, 25489222, 25637523, 29104244, 30862618
Intellectual Disability Associate 20018682, 24424126, 30556256