Seroatlas · Human Serome Atlas

TCTN2

Tectonic-2

Also known as: C12orf38, FLJ12975, JBTS24, MKS8, TECT2, TECT2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96GX1
Gene: TCTN2
Ensembl: ENSG00000168778
Chromosome: 12
Canonical length: 697 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Golgi apparatus,Microtubules,Primary cilium transition zone

OverviewNCBI Gene

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 type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

697 residues, UniProt reviewed canonical sequence.

>Q96GX1|TCTN2
     1  MGFQPPAALL LRLFLLQGIL RLLWGDLAFI PPFIRMSGPA VSASLVGDTE GVTVSLAVLQ
    61  DEAGILPIPT CGVLNNETED WSVTVIPGAK VLEVTVRWKR GLDWCSSNET DSFSESPCIL
   121  QTLLVSASHN SSCSAHLLIQ VEIYANSSLT HNASENVTVI PNQVYQPLGP CPCNLTAGAC
   181  DVRCCCDQEC SSNLTTLFRR SCFTGVFGGD VNPPFDQLCS AGTTTRGVPD WFPFLCVQSP
   241  LANTPFLGYF YHGAVSPKQD SSFEVYVDTD AKDFADFGYK QGDPIMTVKK AYFTIPQVSL
   301  AGQCMQNAPV AFLHNFDVKC VTNLELYQER DGIINAKIKN VALGGIVTPK VIYEEATDLD
   361  KFITNTETPL NNGSTPRIVN VEEHYIFKWN NNTISEINVK IFRAEINAHQ KGIMTQRFVV
   421  KFLSYNSGNE EELSGNPGYQ LGKPVRALNI NRMNNVTTLH LWQSAGRGLC TSATFKPILF
   481  GENVLSGCLL EVGINENCTQ LRENAVERLD SLIQATHVAM RGNSDYADLS DGWLEIIRVD
   541  APDPGADPLA SSVNGMCLDI PAHLSIRILI SDAGAVEGIT QQEILGVETR FSSVNWQYQC
   601  GLTCEHKADL LPISASVQFI KIPAQLPHPL TRFQINYTEY DCNRNEVCWP QLLYPWTQYY
   661  QGELHSQCVA KGLLLLLFLT LALFLSNPWT RICKAYS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCTN2 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): 0.37
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 37 nTPM
fallopian tube: 27 nTPM
retina: 16 nTPM
pituitary gland: 14 nTPM
ovary: 13 nTPM
parathyroid gland: 13 nTPM

Single-cell type

respiratory ciliated cells: 82 nCPM
ependymal cells: 72 nCPM
fallopian tube ciliated cells: 63 nCPM
choroid plexus epithelial cells: 50 nCPM
endometrial ciliated cells: 46 nCPM
epididymal efferent duct ciliated cells: 29 nCPM

Immune cell

MAIT T-cell: 2.7 nTPM
naive CD4 T-cell: 2.4 nTPM
naive CD8 T-cell: 2.4 nTPM
plasmacytoid DC: 2.4 nTPM
memory CD4 T-cell: 2.2 nTPM
naive B-cell: 2.1 nTPM

Brain region

choroid plexus: 69 nTPM
midbrain: 29 nTPM
hypothalamus: 25 nTPM
medulla oblongata: 23 nTPM
spinal cord: 20 nTPM
basal ganglia: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCTN2.

Disease | AllUniProt

Conditions TCTN2 is implicated in, by any mechanism.

Meckel syndrome 8 (MKS8) MIM:613885
Joubert syndrome 24 (JBTS24) MIM:616654

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 811 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.99
gnomAD pLI: 0
gnomAD missense Z: 0.24
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TCTN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TCTN2 as an antibody target. Whether an autoantibody or antibody against TCTN2 could matter depends on whether native TCTN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TCTN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TCTN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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