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	26123
Gene name	Tectonic family member 3
Gene symbol	TCTN3
Synonyms (NCBI Gene)	C10orf61JBTS18OFD4TECT3
Chromosome	10
Chromosome location	10q24.1
Summary	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

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
rs768525869	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs781327291	GACTTACCTGTATAGA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs793888507	CT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs793888508	C>A,T	Pathogenic	Stop gained, coding sequence variant, intron variant, missense variant
rs1589613893	ATCCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589623689	C>T	Pathogenic	Splice acceptor variant

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
MIRT1416830	hsa-miR-3929	CLIP-seq
MIRT1416831	hsa-miR-4297	CLIP-seq
MIRT1416832	hsa-miR-4419b	CLIP-seq
MIRT1416833	hsa-miR-4476	CLIP-seq
MIRT1416834	hsa-miR-4478	CLIP-seq
MIRT1416835	hsa-miR-4666-3p	CLIP-seq
MIRT1416836	hsa-miR-4803	CLIP-seq
MIRT1416837	hsa-miR-624	CLIP-seq
MIRT1416838	hsa-miR-935	CLIP-seq
MIRT2125019	hsa-miR-139-5p	CLIP-seq
MIRT2125020	hsa-miR-198	CLIP-seq
MIRT2125021	hsa-miR-3134	CLIP-seq
MIRT2125022	hsa-miR-3909	CLIP-seq
MIRT2125023	hsa-miR-4268	CLIP-seq
MIRT2125024	hsa-miR-4328	CLIP-seq
MIRT2125025	hsa-miR-4530	CLIP-seq
MIRT2125026	hsa-miR-455-3p	CLIP-seq
MIRT2125027	hsa-miR-4652-3p	CLIP-seq
MIRT2125024	hsa-miR-4328	CLIP-seq
MIRT2640394	hsa-miR-3920	CLIP-seq
MIRT2640395	hsa-miR-4668-5p	CLIP-seq
MIRT2640396	hsa-miR-548a-3p	CLIP-seq
MIRT2640397	hsa-miR-548e	CLIP-seq
MIRT2640398	hsa-miR-548f	CLIP-seq
MIRT2640399	hsa-miR-759	CLIP-seq
MIRT2640394	hsa-miR-3920	CLIP-seq
MIRT2640395	hsa-miR-4668-5p	CLIP-seq
MIRT2640396	hsa-miR-548a-3p	CLIP-seq
MIRT2640397	hsa-miR-548e	CLIP-seq
MIRT2640398	hsa-miR-548f	CLIP-seq
MIRT2640399	hsa-miR-759	CLIP-seq

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
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	17464193
GO:0060170	Component	Ciliary membrane	TAS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS

MIM	HGNC	e!Ensembl
613847	24519	ENSG00000119977

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

	Reactome
			Anchoring of the basal body to the plasma membrane

911

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliopathy	Likely pathogenic; Pathogenic	rs763132585	RCV005361864
Joubert syndrome 18	Likely pathogenic; Pathogenic	rs1224169161, rs553175533, rs779729881, rs755903123, rs777263669, rs761798713, rs793888508, rs749018985, rs1276774121, rs763132585, rs2139744863, rs373479905, rs2139731384, rs2139749042, rs1221992171 View all (24 more)	RCV001379433 RCV001882726 RCV001896023 RCV001974853 RCV002029922 RCV001898313 RCV001914436 RCV001963032 RCV002007223 RCV002007314 RCV002007409 RCV001941559 RCV001988259 RCV001967151 RCV002043471 RCV002289211 RCV002468883 RCV002634078 RCV002654910 RCV002612326 RCV003104650 RCV002517029 RCV002829115 RCV002863360 RCV002889728 RCV000201547 RCV003007542 RCV003029406 RCV003059382 RCV003050185 RCV003784362 RCV003792379 RCV003806525 RCV003806615 RCV003798618 RCV003807623 RCV003812783 RCV001852611 RCV002513274 RCV000030715 RCV002535034 RCV000804457
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs1224169161, rs755903123, rs761798713, rs793888508, rs373479905, rs745688122, rs2097949677	RCV003987855 RCV005432863 RCV004782815 RCV003492701 RCV003323961 RCV004782310 RCV003988538
Orofacial-digital syndrome IV	Likely pathogenic; Pathogenic	rs1224169161, rs553175533, rs779729881, rs755903123, rs777263669, rs761798713, rs793888508, rs749018985, rs1276774121, rs763132585, rs2139744863, rs373479905, rs2139731384, rs2139749042, rs1221992171 View all (27 more)	RCV001379433 RCV001882726 RCV001896023 RCV001974853 RCV002029922 RCV001898313 RCV001914436 RCV001963032 RCV002007223 RCV002007314 RCV002007409 RCV001941559 RCV001988259 RCV001967151 RCV002043471 RCV002571430 RCV002634078 RCV002654910 RCV002612326 RCV003104650 RCV000190630 RCV002829115 RCV002863360 RCV002889728 RCV000796275 RCV003007542 RCV003029406 RCV003059382 RCV003050185 RCV003784362 RCV003792379 RCV003806525 RCV003806615 RCV003798618 RCV003807623 RCV003812783 RCV000030710 RCV000030712 RCV000030713 RCV000030714 RCV002535034 RCV000804457 RCV001007403 RCV001197442
TCTN3-related disorder	Pathogenic; Likely pathogenic	rs761798713, rs373479905, rs1566074908	RCV003401841 RCV004538683 RCV004535803

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign	rs532774999	RCV005921429
Gastric cancer	Likely benign	rs368389310	RCV005903122
Long QT syndrome	Likely benign	rs796052142	RCV000190128
Sarcoma	Uncertain significance	rs541135431	RCV005924029
See cases	Conflicting classifications of pathogenicity	rs758733887	RCV004584450
Thymoma	Likely benign	rs149416401	RCV005915091

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Polydactyly	Associate	33098376
Tibial Neuropathy	Associate	22883145

TCTN3 (tectonic family member 3)