Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
160418
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane O-mannosyltransferase targeting cadherins 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMTC3
Synonyms (NCBI Gene) Gene synonyms aliases
LIS8, SMILE
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LIS8
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs754200057 C>G,T Pathogenic 5 prime UTR variant, missense variant, intron variant, non coding transcript variant, coding sequence variant
rs768546704 C>A,T Likely-pathogenic Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs1057517696 A>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517697 C>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs1057517698 G>A Pathogenic Intron variant, non coding transcript variant, missense variant, initiator codon variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020400 hsa-miR-29c-3p Sequencing 20371350
MIRT020906 hsa-miR-155-5p Proteomics 18668040
MIRT022084 hsa-miR-128-3p Sequencing 20371350
MIRT024869 hsa-miR-215-5p Microarray 19074876
MIRT026736 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000030 Function Mannosyltransferase activity IMP 28973932
GO:0004169 Function Dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
GO:0005515 Function Protein binding IPI 25416956
GO:0005783 Component Endoplasmic reticulum IDA 21603654
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617218 26899 ENSG00000139324
Protein
UniProt ID Q6ZXV5
Protein name Protein O-mannosyl-transferase TMTC3 (EC 2.4.1.109) (Protein SMILE) (Transmembrane O-mannosyltransferase targeting cadherins 3) (Transmembrane and tetratricopeptide repeat-containing 3)
Protein function Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08409 DUF1736 258 331 Domain of unknown function (DUF1736) Family
PF13432 TPR_16 450 508 Family
PF13181 TPR_8 528 562 Tetratricopeptide repeat Repeat
PF13431 TPR_17 585 618 Repeat
PF13181 TPR_8 669 702 Tetratricopeptide repeat Repeat
PF13174 TPR_6 704 736 Tetratricopeptide repeat Repeat
PF13181 TPR_8 737 771 Tetratricopeptide repeat Repeat
Sequence
MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTP
MSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSS
VIASLLFAVHPIHTEAVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFL
VAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTAGQFLRGKGSIPFSMLQTLVKLI
VLMFSTLLLVVIRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSEL
CCDWTMGTIPLIESLLDIRNLATFTFFCFLG
MLGVFSIRYSGDSSKTVLMALCLMALPFI
PASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISTKSVFKKLSWICLSMVILTHSLK
TFHRNWDWESEYTLFMSALKVNKNNAKLWNNVGHALENEKNFERALKYFLQATHVQPDDI
GAHMNVGRTYKNLNRTKEAEESYMMAKS
LMPQIIPGKKYAARIAPNHLNVYINLANLIRA
NESRLEEADQLYRQAISMRPDF
KQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLW
YNLAIVHIELKEPNEALK
KNFNRALELNPKHKLALFNSAIVMQESGEVKLRPEARKRLLS
YINEEPLDANGYFNLGMLAMDDKKDNEAEIWMKKAIKLQADFRSALFNLALLYSQTAKEL
KALPILEELLRYYPDH
IKGLILKGDILMNQKKDILGAKKCFERILEMDPSNVQGKHNLCV
VYFEEKDLLKAERCLLETLALAPHEEYIQRHLNIVRDKISSSSFIEPIFPTSKISSVEGK
KIPTESVKEIRGESRQTQIVKTSDNKSQSKSNKQLGKNGDEETPHKTTKDIKEIEKKRVA
ALKRLEEIERILNGE
Sequence length 915
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Lissencephaly Lissencephaly, LISSENCEPHALY 8 rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489
View all (183 more)
27773428
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Periventricular Nodular Heterotopia periventricular nodular heterotopia GenCC
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 33503040
Carcinoma Squamous Cell Associate 35982901
Cerebellar Diseases Associate 27773428
Cobblestone Lissencephaly Associate 27773428, 28973932
Esophageal Squamous Cell Carcinoma Associate 37752569
Eye Abnormalities Associate 27773428
Hydrocephalus Associate 27773428
Hypoxia Stimulate 37752569
Muscle Neoplasms Associate 27773428
Neoplasm Metastasis Stimulate 35982901