TCTN1 (tectonic family member 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79600
Gene name Gene Name - the full gene name approved by the HGNC.
Tectonic family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TCTN1
Synonyms (NCBI Gene) Gene synonyms aliases
JBTS13, TECT1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, w
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs201894544 A>T Likely-benign, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, missense variant
rs367543065 A>G Pathogenic Intron variant, splice acceptor variant
rs368907353 C>G,T Likely-benign, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs370336923 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, synonymous variant, missense variant
rs730882221 A>G Likely-pathogenic, pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT042925 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0001841 Process Neural tube formation IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609863 26113 ENSG00000204852
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q2MV58
Protein name Tectonic-1
Protein function Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), req
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07773 DUF1619 78 → 387 Protein of unknown function (DUF1619) Family
Sequence 
MRPRGLPPLLVVLLGCWASVSAQTDATPAVTTEGLNSTEAALATFGTFPSTRPPGTPRAP
GPSSGPRPTPVTDVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFC
SQKAVIYSLNFTANPPQRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMK
TSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTSDSFLRFPSSLTSSLCTDNNPAAFL
VNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNKTLTR
REDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQ
KFEIHFLQENTQPVPLSGNPGYVVGLPLAAGFQPHKGSGIIQTTNRYGQLTILHSTTEQD
CLALEGVRTPVLFGYTMQSGCKLRLTGALPCQLVAQKVKSLLWGQGFPDYVAPFGNSQAQ
DMLDWVPIHFITQSFNRKDSCQLPGALVIEVKWTKYGSLLNPQAKIVNVTANLISSSFPE
ANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFPFV
Sequence length 587
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Anchoring of the basal body to the plasma membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Joubert Syndrome joubert syndrome 13 rs886039436, rs1593376626, rs367543065, rs730882221, rs797046039, rs751962801 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cerebellar vermis agenesis familial aplasia of the vermis N/A N/A ClinVar
Meckel Syndrome Meckel syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Esophageal Squamous Cell Carcinoma Associate 31297133
Glioblastoma Associate 25304031
Neoplasms Associate 34859261
Prostatic Neoplasms Associate 26310786
Squamous Cell Carcinoma of Head and Neck Associate 34859261