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	79600
Gene name	Tectonic family member 1
Gene symbol	TCTN1
Synonyms (NCBI Gene)	JBTS13TECT1
Chromosome	12
Chromosome location	12q24.11
Summary	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

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
rs751962801	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs797046038	TAA>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs797046039	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, splice donor variant, coding sequence variant
rs886039436	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs886044606	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1593376626	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, synonymous variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042925	hsa-miR-324-3p	CLASH	23622248

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence
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
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0021523	Process	Somatic motor neuron differentiation	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021956	Process	Central nervous system interneuron axonogenesis	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: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
609863	26113	ENSG00000204852

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

	Reactome
			Anchoring of the basal body to the plasma membrane

799

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Likely pathogenic	rs760922371	RCV005937371
Global developmental delay	Pathogenic	rs730882221	RCV000162131
Joubert syndrome	Likely pathogenic; Pathogenic	rs200241085, rs1165243207, rs200863258, rs2136195903, rs1398514249, rs1353535488, rs766816100, rs2136172776, rs756402483, rs748215804, rs1303964272, rs374065616, rs1475200635, rs2548754386, rs751962801 View all (13 more)	RCV002032552 RCV003772349 RCV002543304 RCV001915855 RCV002007152 RCV001942140 RCV001879311 RCV001883240 RCV002030713 RCV001940214 RCV003108852 RCV002586667 RCV002575567 RCV002824414 RCV003765338 RCV005228001 RCV003785532 RCV003782951 RCV003808061 RCV003797294 RCV003809329 RCV003813383 RCV001856156 RCV001069111 RCV001035552 RCV001035441 RCV001035553 RCV001219098
Joubert syndrome 13	Pathogenic; Likely pathogenic	rs1275375836, rs200241085, rs2136171586, rs1165243207, rs1398514249, rs748215804, rs2136006298, rs730882221, rs2548832773, rs797046039, rs751962801, rs886039436, rs760922371, rs367543065, rs1593376626	RCV001335645 RCV002471121 RCV001844404 RCV001825289 RCV005002711 RCV002300621 RCV002237204 RCV000201626 RCV002471490 RCV000194752 RCV000207452 RCV003989511 RCV003984992 RCV000023788 RCV001029772
Joubert syndrome and related disorders	Likely pathogenic	rs200863258, rs1566003392, rs749481321, rs2067211703	RCV001844532 RCV002238589 RCV003123410 RCV003331775
Lung cancer	Likely pathogenic; Pathogenic	rs886039436	RCV005895437
Malignant tumor of urinary bladder	Likely pathogenic	rs200241085	RCV005915964
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs200241085, rs1165243207, rs200863258, rs2136195903, rs1398514249, rs1353535488, rs766816100, rs2136172776, rs756402483, rs748215804, rs1303964272, rs374065616, rs1475200635, rs2548754386, rs751962801 View all (13 more)	RCV002032552 RCV003772349 RCV002543304 RCV001915855 RCV002007152 RCV001942140 RCV001879311 RCV001883240 RCV002030713 RCV001940214 RCV003108852 RCV002586667 RCV002575567 RCV002824414 RCV003765338 RCV005228001 RCV003785532 RCV003782951 RCV003808061 RCV003797294 RCV003809329 RCV003813383 RCV001856156 RCV001069111 RCV001035552 RCV001035441 RCV001035553 RCV001219098
TCTN1-related disorder	Likely pathogenic; Pathogenic	rs2136045792, rs2548884767, rs757348545	RCV004751032 RCV003391503 RCV003411716
Typical Joubert syndrome MRI findings	Pathogenic	rs730882221	RCV000162131

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs182009649	RCV005916401
Cervical cancer	Likely benign; Benign	rs114661062, rs12307716	RCV005916394 RCV005888246
Colon adenocarcinoma	Benign; Likely benign	rs201913681	RCV005869550
Colorectal cancer	Benign; Likely benign	rs201913681	RCV005869553
Developmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs765199264, rs2066952227	RCV003126272 RCV003128029
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1172220213	RCV004557981
Familial cancer of breast	Benign; Likely benign	rs201913681	RCV005869549
Gastric cancer	Benign; Likely benign	rs201913681	RCV005869554
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs201913681	RCV005869552
Malignant tumor of esophagus	Benign; Likely benign	rs201913681	RCV005869551
Ovarian serous cystadenocarcinoma	Benign	rs12307716	RCV005888248
Sarcoma	Benign	rs12307716	RCV005888247
Uterine corpus endometrial carcinoma	Benign	rs12307716	RCV005888249

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

TCTN1 (tectonic family member 1)