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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 nameGene Name - the full gene name approved by the HGNC.
Tectonic family member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TCTN1
SynonymsGene synonyms aliases
JBTS13, TECT1
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0001841 Process Neural tube formation IEA
GO:0005615 Component Extracellular space IEA
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IEA
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Anchoring of the basal body to the plasma membrane
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cerebellar vermis agenesis Familial aplasia of the vermis rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003, rs199469707, rs11230683, rs386834044, rs386834149, rs267604575, rs587777079, rs587777653, rs587783013, rs778149316, rs786204135, rs386834043, rs786204189, rs786204788, rs794729195, rs534542684, rs797045223, rs863224523, rs201502401, rs374144275, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs863225199, rs775518991, rs752300607, rs863225202, rs863225200, rs863225198, rs754637179, rs755459875, rs863225151, rs863225222, rs863225221, rs863225220, rs201010803, rs863225214, rs369488112, rs863225207, rs863225204, rs863225210, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs750436680, rs863225150, rs757863670, rs864309712, rs878855006, rs1114167302, rs768663992, rs760952407, rs1057517498, rs1057517528, rs767384710, rs756789619, rs1057520085, rs1057520162, rs142759730, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs779450345, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs767018622, rs565629362, rs905262279, rs1554214237, rs771866500, rs754404879, rs1554972547, rs1560002959, rs1564430716, rs756276537, rs1431917892, rs1565088283, rs1277577195, rs1562753388, rs772289223, rs777215595, rs747322175, rs751823180, rs751477523, rs187245292, rs1574587553, rs762334514, rs747514855, rs1318058212, rs1583179845, rs1589150410, rs1588830568, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs771226563, rs1784887448, rs781198326 28631893, 26489806, 22693042, 21725307
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hirschsprung disease Hirschsprung Disease rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Unknown
Disease name Disease term dbSNP ID References
Ciliopathies Ciliopathies
Congenital cerebral hernia Congenital cerebral hernia
Congenital coloboma of iris Congenital coloboma of iris
Disorder of eye Disorder of eye

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