Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79867
Gene name	Tectonic family member 2
Gene symbol	TCTN2
Synonyms (NCBI Gene)	C12orf38JBTS24MKS8TECT2
Chromosome	12
Chromosome location	12q24.31
Summary	This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome ty

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141768405	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant
rs146698907	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs149430216	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs187433682	G>A	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs188417716	T>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs201010803	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs201827132	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs374349989	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs746186338	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs748951253	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs760034947	->T	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs760830696	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs786204788	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs786205622	TG>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs797046040	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225220	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225221	G>T	Pathogenic	Stop gained, coding sequence variant
rs863225222	G>-,GG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225425	G>A	Pathogenic	Splice acceptor variant
rs863225426	C>T	Pathogenic	Stop gained, coding sequence variant
rs915737037	->CTCTGCTC	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1131691491	A>T	Likely-pathogenic	Splice acceptor variant
rs1555293215	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

169

Show/Hide all (169)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029239	hsa-miR-26b-5p	Microarray	19088304
MIRT695166	hsa-miR-2278	HITS-CLIP	23313552
MIRT695165	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT695164	hsa-miR-4459	HITS-CLIP	23313552
MIRT695163	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT695162	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT695161	hsa-miR-3926	HITS-CLIP	23313552
MIRT695160	hsa-miR-548s	HITS-CLIP	23313552
MIRT695166	hsa-miR-2278	HITS-CLIP	23313552
MIRT695165	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT695164	hsa-miR-4459	HITS-CLIP	23313552
MIRT695163	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT695162	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT695161	hsa-miR-3926	HITS-CLIP	23313552
MIRT695160	hsa-miR-548s	HITS-CLIP	23313552
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT1416812	hsa-miR-1262	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416817	hsa-miR-4433	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416820	hsa-miR-4701-3p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT1416823	hsa-miR-542-3p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2347465	hsa-miR-323b-3p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2347466	hsa-miR-4710	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT2347467	hsa-miR-4792	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT2395624	hsa-miR-1285	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2395625	hsa-miR-3157-5p	CLIP-seq
MIRT2395626	hsa-miR-3187-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2395627	hsa-miR-612	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT1416812	hsa-miR-1262	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT2640387	hsa-miR-1323	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2640388	hsa-miR-323-5p	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT2640389	hsa-miR-3613-3p	CLIP-seq
MIRT2640390	hsa-miR-371-5p	CLIP-seq
MIRT2640391	hsa-miR-371b-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT1416820	hsa-miR-4701-3p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2640392	hsa-miR-548o	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT2640393	hsa-miR-876-3p	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT2640387	hsa-miR-1323	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2640388	hsa-miR-323-5p	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT2640389	hsa-miR-3613-3p	CLIP-seq
MIRT2640390	hsa-miR-371-5p	CLIP-seq
MIRT2640391	hsa-miR-371b-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2640392	hsa-miR-548o	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT2640393	hsa-miR-876-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036038	Component	MKS complex	IBA
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:1904491	Process	Protein localization to ciliary transition zone	IBA
GO:1904491	Process	Protein localization to ciliary transition zone	IEA

MIM	HGNC	e!Ensembl
613846	25774	ENSG00000168778

Q96GX1

Protein name

Tectonic-2

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. Required for hedgehog signaling

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07773	DUF1619	171 → 444	Protein of unknown function (DUF1619)	Family

Sequence

MGFQPPAALLLRLFLLQGILRLLWGDLAFIPPFIRMSGPAVSASLVGDTEGVTVSLAVLQ
DEAGILPIPTCGVLNNETEDWSVTVIPGAKVLEVTVRWKRGLDWCSSNETDSFSESPCIL
QTLLVSASHNSSCSAHLLIQVEIYANSSLTHNASENVTVIPNQVYQPLGPCPCNLTAGAC
DVRCCCDQECSSNLTTLFRRSCFTGVFGGDVNPPFDQLCSAGTTTRGVPDWFPFLCVQSP
LANTPFLGYFYHGAVSPKQDSSFEVYVDTDAKDFADFGYKQGDPIMTVKKAYFTIPQVSL
AGQCMQNAPVAFLHNFDVKCVTNLELYQERDGIINAKIKNVALGGIVTPKVIYEEATDLD
KFITNTETPLNNGSTPRIVNVEEHYIFKWNNNTISEINVKIFRAEINAHQKGIMTQRFVV
KFLSYNSGNEEELSGNPGYQLGKPVRALNINRMNNVTTLHLWQSAGRGLCTSATFKPILF
GENVLSGCLLEVGINENCTQLRENAVERLDSLIQATHVAMRGNSDYADLSDGWLEIIRVD
APDPGADPLASSVNGMCLDIPAHLSIRILISDAGAVEGITQQEILGVETRFSSVNWQYQC
GLTCEHKADLLPISASVQFIKIPAQLPHPLTRFQINYTEYDCNRNEVCWPQLLYPWTQYY
QGELHSQCVAKGLLLLLFLTLALFLSNPWTRICKAYS

Sequence length

697

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

1336

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome	Likely pathogenic; Pathogenic	rs371537478, rs2135834102, rs757485757, rs2135847212, rs1408997904, rs141752910, rs1025526121, rs786204788, rs780032084, rs1306876740, rs757123597, rs753905088, rs1196281944, rs201010803, rs774994149 View all (25 more)	RCV002028164 RCV001380665 RCV002569084 RCV001993399 RCV001895406 RCV002015985 RCV001918702 RCV000169679 RCV003060382 RCV003070111 RCV002610374 RCV002591572 RCV002622677 RCV002635728 RCV002700171 RCV002819384 RCV002856308 RCV002875674 RCV003765238 RCV002885983 RCV002899586 RCV000201599 RCV000201539 RCV000201712 RCV000201772 RCV000201600 RCV003765308 RCV003002956 RCV003034650 RCV003035367 RCV003765663 RCV003784099 RCV003795943 RCV003784525 RCV003805651 RCV003810133 RCV002513219 RCV000546531 RCV000545308 RCV000693065 RCV002535646 RCV002559269 RCV001207165
Joubert syndrome 24	Likely pathogenic; Pathogenic	rs371537478, rs757485757, rs1408997904, rs141752910, rs780032084, rs760830696, rs863225222, rs863225220, rs863225425, rs863225426, rs2541810812, rs1956234424, rs1191280597, rs2541798281, rs374349989 View all (3 more)	RCV005008356 RCV005860239 RCV005006146 RCV005008392 RCV005010919 RCV001281672 RCV005003556 RCV000202326 RCV005008142 RCV000202333 RCV000202341 RCV002789997 RCV005012994 RCV005013183 RCV005006351 RCV003987331 RCV005010499 RCV003987793 RCV002504226
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs760830696, rs201010803, rs1956234424, rs2541798281, rs374349989	RCV002509290 RCV001582698 RCV003493345 RCV003988592 RCV003993750
Meckel syndrome, type 6	Likely pathogenic; Pathogenic	rs374349989, rs1955997540, rs1555293215	RCV001261610 RCV001261612 RCV001261611
Meckel syndrome, type 8	Likely pathogenic; Pathogenic	rs371537478, rs1408997904, rs141752910, rs780032084, rs797046040, rs760830696, rs863225222, rs863225220, rs1956234424, rs1191280597, rs2541798281, rs374349989, rs760034947, rs1956235509, rs754596743	RCV005008356 RCV005006146 RCV005008392 RCV005010919 RCV000192770 RCV000194845 RCV005003556 RCV005008142 RCV005012994 RCV005013183 RCV005006351 RCV000024072 RCV005010499 RCV001175225 RCV001198916
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs371537478, rs2135834102, rs757485757, rs2135847212, rs1408997904, rs141752910, rs1025526121, rs780032084, rs1306876740, rs757123597, rs753905088, rs1196281944, rs201010803, rs774994149, rs1956031029 View all (22 more)	RCV002028164 RCV001380665 RCV002569084 RCV001993399 RCV001895406 RCV002015985 RCV001918702 RCV003060382 RCV003070111 RCV002610374 RCV002591572 RCV002622677 RCV002635728 RCV002700171 RCV002819384 RCV002856308 RCV002875674 RCV003765238 RCV002885983 RCV002899586 RCV002517314 RCV001853238 RCV003765308 RCV003002956 RCV003034650 RCV003035367 RCV003765663 RCV003784099 RCV003795943 RCV003784525 RCV003805651 RCV003810133 RCV002513219 RCV000546531 RCV000545308 RCV000693065 RCV002535646 RCV002559269 RCV001207165
TCTN2-related disorder	Likely pathogenic; Pathogenic	rs374349989	RCV000305893
Uveal melanoma	Likely pathogenic	rs141752910	RCV005925567

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs10846543	RCV005904147
Cholangiocarcinoma	Benign	rs11613632	RCV005903906
Familial cancer of breast	Benign; Likely benign	rs113301547	RCV005893578
Gastric cancer	Benign	rs11613632, rs35946281	RCV005903905 RCV005903902
Lung cancer	Conflicting classifications of pathogenicity	rs147485641	RCV005892038
Malignant lymphoma, large B-cell, diffuse	Benign	rs11613632, rs35946281	RCV005903904 RCV005903901
Malignant tumor of urinary bladder	Benign; Likely benign	rs113301547	RCV005893579
Microcephaly	Uncertain significance	rs778418417	RCV001252747
Sarcoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs748105865, rs147485641, rs111574617, rs113301547	RCV005911197 RCV005892037 RCV005893577 RCV005893580
Thymoma	Benign	rs10846543	RCV005904149
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs375717971	RCV005924243
Uterine carcinosarcoma	Benign	rs35946281	RCV005903903

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	37735380
Ciliopathies	Associate	29866362
Endocardial Cushion Defects	Associate	32655147
Meckel syndrome type 1	Associate	29866362, 32655147

TCTN2 (tectonic family member 2)