TCTN3

Protein identityUniProt · HPA

UniProt accession

Q6NUS6

Gene

TCTN3

Ensembl

ENSG00000119977

Chromosome

10

Canonical length

607 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Microtubules

Secretome location

Intracellular and membrane

OverviewNCBI 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 spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

Canonical amino-acid sequenceUniProt

607 residues, UniProt reviewed canonical sequence.

>Q6NUS6|TCTN3
     1  MRTPQLALLQ VFFLVFPDGV RPQPSSSPSG AVPTSLELQR GTDGGTLQSP SEATATRPAV
    61  PGLPTVVPTL VTPSAPGNRT VDLFPVLPIC VCDLTPGACD INCCCDRDCY LLHPRTVFSF
   121  CLPGSVRSSS WVCVDNSVIF RSNSPFPSRV FMDSNGIRQF CVHVNNSNLN YFQKLQKVNA
   181  TNFQALAAEF GGESFTSTFQ TQSPPSFYRA GDPILTYFPK WSVISLLRQP AGVGAGGLCA
   241  ESNPAGFLES KSTTCTRFFK NLASSCTLDS ALNAASYYNF TVLKVPRSMT DPQNMEFQVP
   301  VILTSQANAP LLAGNTCQNV VSQVTYEIET NGTFGIQKVS VSLGQTNLTV EPGASLQQHF
   361  ILRFRAFQQS TAASLTSPRS GNPGYIVGKP LLALTDDISY SMTLLQSQGN GSCSVKRHEV
   421  QFGVNAISGC KLRLKKADCS HLQQEIYQTL HGRPRPEYVA IFGNADPAQK GGWTRILNRH
   481  CSISAINCTS CCLIPVSLEI QVLWAYVGLL SNPQAHVSGV RFLYQCQSIQ DSQQVTEVSL
   541  TTLVNFVDIT QKPQPPRGQP KMDWKWPFDF FPFKVAFSRG VFSQKCSVSP ILILCLLLLG
   601  VLNLETM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCTN3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

68 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCTN3.

Disease | AllUniProt

Conditions TCTN3 is implicated in, by any mechanism.

• Orofaciodigital syndrome 4 (OFD4) MIM:258860
• Joubert syndrome 18 (JBTS18) MIM:614815

Disease | GeneticClinVar

70 pathogenic / likely-pathogenic of 611 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Orofacial-digital syndrome IV
• Joubert syndrome 18
• Joubert syndrome and related disorders
• TCTN3-related disorder
• Autosomal recessive TCTN3-related disorders

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.04

gnomAD pLI

0

gnomAD missense Z

0.84

DepMap mean gene effect

-0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• cilium assembly
• positive regulation of apoptotic process
• smoothened signaling pathway

Cellular components

• ciliary membrane
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Tectonic-1-3 domain
• Tectonic-1-3
• Tectonic-1-3, N-terminal domain
• Tectonic domain of DUF1619
• N-terminal domain of DUF1619

KeywordsUniProt

• Apoptosis
• Ciliopathy
• Cilium biogenesis/degradation
• Glycoprotein
• Joubert syndrome
• Membrane
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of TCTN3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MKS1
• CANX
• TCTN1
• TCTN2