TCTN3 (tectonic family member 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26123
Gene name Gene Name - the full gene name approved by the HGNC.
Tectonic family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TCTN3
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf61, JBTS18, OFD4, TECT3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively s
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
rs181107730 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant
rs201367852 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, synonymous variant
rs387907273 G>A Pathogenic Coding sequence variant, stop gained
rs745688122 C>T Uncertain-significance, pathogenic Coding sequence variant, missense variant, initiator codon variant
rs764091969 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
miRTarBase ID miRNA Experiments Reference
MIRT042807 hsa-miR-339-5p CLASH 23622248
MIRT1416826 hsa-miR-1252 CLIP-seq
MIRT1416827 hsa-miR-205 CLIP-seq
MIRT1416828 hsa-miR-300 CLIP-seq
MIRT1416829 hsa-miR-381 CLIP-seq
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(12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005634 Component Nucleus IDA 17464193
GO:0006915 Process Apoptotic process IEA
GO:0007224 Process Smoothened signaling pathway IBA
GO:0007224 Process Smoothened signaling pathway IMP 22883145
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
613847 24519 ENSG00000119977
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6NUS6
Protein name Tectonic-3
Protein function Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedg
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07773 DUF1619 90 → 390 Protein of unknown function (DUF1619) Family
Sequence 
MRTPQLALLQVFFLVFPDGVRPQPSSSPSGAVPTSLELQRGTDGGTLQSPSEATATRPAV
PGLPTVVPTLVTPSAPGNRTVDLFPVLPICVCDLTPGACDINCCCDRDCYLLHPRTVFSF
CLPGSVRSSSWVCVDNSVIFRSNSPFPSRVFMDSNGIRQFCVHVNNSNLNYFQKLQKVNA
TNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYFPKWSVISLLRQPAGVGAGGLCA
ESNPAGFLESKSTTCTRFFKNLASSCTLDSALNAASYYNFTVLKVPRSMTDPQNMEFQVP
VILTSQANAPLLAGNTCQNVVSQVTYEIETNGTFGIQKVSVSLGQTNLTVEPGASLQQHF
ILRFRAFQQSTAASLTSPRSGNPGYIVGKPLLALTDDISYSMTLLQSQGNGSCSVKRHEV
QFGVNAISGCKLRLKKADCSHLQQEIYQTLHGRPRPEYVAIFGNADPAQKGGWTRILNRH
CSISAINCTSCCLIPVSLEIQVLWAYVGLLSNPQAHVSGVRFLYQCQSIQDSQQVTEVSL
TTLVNFVDITQKPQPPRGQPKMDWKWPFDFFPFKVAFSRGVFSQKCSVSPILILCLLLLG
VLNLETM
Sequence length 607
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 (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Joubert Syndrome joubert syndrome 18, Joubert syndrome and related disorders rs793888508, rs745688122 N/A
Orofaciodigital syndrome Orofacial-digital syndrome IV rs793888507, rs768525869, rs764091969, rs1589623689, rs2139738553, rs387907273 N/A
Show/Hide Unknown Diseases (2)
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
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Meckel Syndrome Meckel syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 22883145, 35751429
Bone Diseases Developmental Associate 22883145
Brain Diseases Associate 22883145
Capillary Malformation Arteriovenous Malformation Associate 33098376
Ciliopathies Associate 22883145, 36039988
Heart Defects Congenital Associate 33098376
Kidney Diseases Cystic Associate 22883145
Orofaciodigital syndrome 4 Associate 36039988
Orofaciodigital Syndromes Associate 22883145, 36039988
Osteofibrous Dysplasia Associate 22883145