CTNND2
Catenin delta-2
Also known as: CTND2_HUMAN, GT24, NPRAP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UQB3
- Gene
- CTNND2
- Ensembl
- ENSG00000169862
- Chromosome
- 5
- Canonical length
- 1225 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cell Junctions,Cytosol
OverviewNCBI Gene
This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Canonical amino-acid sequenceUniProt
1225 residues, UniProt reviewed canonical sequence.
>Q9UQB3|CTNND2
1 MFARKPPGAA PLGAMPVPDQ PSSASEKTSS LSPGLNTSNG DGSETETTSA ILASVKEQEL
61 QFERLTRELE AERQIVASQL ERCKLGSETG SMSSMSSAEE QFQWQSQDGQ KDIEDELTTG
121 LELVDSCIRS LQESGILDPQ DYSTGERPSL LSQSALQLNS KPEGSFQYPA SYHSNQTLAL
181 GETTPSQLPA RGTQARATGQ SFSQGTTSRA GHLAGPEPAP PPPPPPREPF APSLGSAFHL
241 PDAPPAAAAA ALYYSSSTLP APPRGGSPLA APQGGSPTKL QRGGSAPEGA TYAAPRGSSP
301 KQSPSRLAKS YSTSSPINIV VSSAGLSPIR VTSPPTVQST ISSSPIHQLS STIGTYATLS
361 PTKRLVHASE QYSKHSQELY ATATLQRPGS LAAGSRASYS SQHGHLGPEL RALQSPEHHI
421 DPIYEDRVYQ KPPMRSLSQS QGDPLPPAHT GTYRTSTAPS SPGVDSVPLQ RTGSQHGPQN
481 AAAATFQRAS YAAGPASNYA DPYRQLQYCP SVESPYSKSG PALPPEGTLA RSPSIDSIQK
541 DPREFGWRDP ELPEVIQMLQ HQFPSVQSNA AAYLQHLCFG DNKIKAEIRR QGGIQLLVDL
601 LDHRMTEVHR SACGALRNLV YGKANDDNKI ALKNCGGIPA LVRLLRKTTD LEIRELVTGV
661 LWNLSSCDAL KMPIIQDALA VLTNAVIIPH SGWENSPLQD DRKIQLHSSQ VLRNATGCLR
721 NVSSAGEEAR RRMRECDGLT DALLYVIQSA LGSSEIDSKT VENCVCILRN LSYRLAAETS
781 QGQHMGTDEL DGLLCGEANG KDAESSGCWG KKKKKKKSQD QWDGVGPLPD CAEPPKGIQM
841 LWHPSIVKPY LTLLSECSNP DTLEGAAGAL QNLAAGSWKW SVYIRAAVRK EKGLPILVEL
901 LRIDNDRVVC AVATALRNMA LDVRNKELIG KYAMRDLVHR LPGGNNSNNT ASKAMSDDTV
961 TAVCCTLHEV ITKNMENAKA LRDAGGIEKL VGISKSKGDK HSPKVVKAAS QVLNSMWQYR
1021 DLRSLYKKDG WSQYHFVASS STIERDRQRP YSSSRTPSIS PVRVSPNNRS ASAPASPREM
1081 ISLKERKTDY ECTGSNATYH GAKGEHTSRK DAMTAQNTGI STLYRNSYGA PAEDIKHNQV
1141 SAQPVPQEPS RKDYETYQPF QNSTRNYDES FFEDQVHHRP PASEYTMHLG LKSTGNYVDF
1201 YSAARPYSEL NYETSHYPAS PDSWVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CTNND2 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 72 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 72 nTPM
- amygdala: 61 nTPM
- basal ganglia: 57 nTPM
- midbrain: 49 nTPM
- hippocampal formation: 46 nTPM
- hypothalamus: 36 nTPM
Single-cell type
- astrocytes: 4,013 nCPM
- bergmann glia: 3,618 nCPM
- oligodendrocyte progenitor cells: 2,054 nCPM
- brain excitatory neurons: 1,244 nCPM
- somatotrophs: 1,228 nCPM
- pituicytes/fscs: 1,102 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 256 nTPM
- spinal cord: 222 nTPM
- white matter: 221 nTPM
- thalamus: 221 nTPM
- hippocampal formation: 215 nTPM
- basal ganglia: 213 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CTNND2.
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 373 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Inborn genetic diseases
- CTNND2-related disorder
- Schizophrenia
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)
- 0.1
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.77
- DepMap mean gene effect
- 0.08
- 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
- cell adhesion
- cell-cell adhesion
- dendritic spine morphogenesis
- regulation of canonical Wnt signaling pathway
- signal transduction
- synapse organization
- Wnt signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CTNND2 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 CTNND2 as an antibody target. Whether an autoantibody or antibody against CTNND2 could matter depends on whether native CTNND2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CTNND2 is annotated at the cell surface, where native CTNND2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CTNND2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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