PCDHAC2
Protocadherin alpha-C2
Also known as: PCDC2_HUMAN, PCDH-ALPHA-C2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5I4
- Gene
- PCDHAC2
- Ensembl
- ENSG00000243232
- Chromosome
- 5
- Canonical length
- 1007 aa
- Protein class
- Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1007 residues, UniProt reviewed canonical sequence.
>Q9Y5I4|PCDHAC2
1 MEQAGTRPAA TEHPRLRRPM PWLLLLPLLL LLLLLLPGPA ASQLRYSVPE EQAPGALVGN
61 VARALGLELR RLGPGCLRIN HLGAPSPRYL ELDLTSGALF VNERIDREAL CEQRPRCLLS
121 LEVLAHNPVA VSAVEVEILD INDNSPRFPR PNYQLQVSES VAPGARFHIE SAQDPDVGAN
181 SVQTYELSPS EHFELDLKPL QENSKVLELV LRKGLDREQA ALHHLVLTAV DGGIPARSGT
241 AQISVRVLDT NDNSPAFDQS TYRVQLREDS PPGTLVVKLN ASDPDEGSNG ELRYSLSSYT
301 SDRERQLFSI DASTGEVRVI GGLDYEEASS YQIYVQATDR GPVPMAGHCK VLVDIVDVND
361 NAPEVVLTDL YSPVPENATP NTIVAVLSVN DQDSGPNRKV SLGLEATLPF RLNGFGNSYT
421 LVVSGPLDRE RVAVYNITVT ATDGGIPQLT SLRTLKVEIS DINDNPPSFL EDSYSIYIQE
481 NNLPGVLLCT VQATDPDEKE NAEVTYSLLE REIQGLPVTS YVSINSASGS LYAVNSFDYE
541 KFREFFVTVE AQDKGSPPLS STVTANVYVV DMNDHAPHIL YPTSTNSSAA FEMVPRTAPA
601 GYLVTKVIAM DSDSGQNAWL FYHLAQTSDL DLFKVELHTG EIRTTRKMGD ESGSTFNLTV
661 VVRDNGEPSL SASVAITVAV VDRVSKILPD TQRHVKSPRT YSEITLYLII ALSTVSFIFL
721 LTIIILSIIK CYRYTAYGTA CCGGFCGVRE RSPAELYKQA NNNIDARIPH GLKVQPHFIE
781 VRGNGSLTKT YCYKACLTAG SGSDTFMFYN TGAQTGPGPS GAQAAVTDSR NLTGQSGQNA
841 GNLIILKNEA VSQNEPRQPN PDWRYSASLR AGMHSSVHLE EAGILRAGPG GPDQQWPTVS
901 SATPEPEAGE VSPPVGAGVN SNSWTFKYGP GNPKQSGPGE LPDKFIIPGS PAIISIRQEP
961 TNSQIDKSDF ITFGKKEETK KKKKKKKGNK TQEKKEKGNS TTDNSDQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PCDHAC2 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
- 1
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 40 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 40 nTPM
- retina: 9 nTPM
- cerebral cortex: 7.3 nTPM
- cerebellum: 7.1 nTPM
- basal ganglia: 2.5 nTPM
- gallbladder: 2.5 nTPM
Single-cell type
- alveolar cells type 1: 1.4 nCPM
- myosatellite cells: 1.2 nCPM
- alveolar cells type 2: 0.9 nCPM
- respiratory secretory cells: 0.8 nCPM
- salivary duct cells: 0.7 nCPM
- mesothelial cells: 0.6 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
- midbrain: 51 nTPM
- cerebral cortex: 29 nTPM
- pons: 27 nTPM
- basal ganglia: 23 nTPM
- cerebellum: 22 nTPM
- thalamus: 21 nTPM
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)
- 0.34
- gnomAD pLI
- 0.93
- gnomAD missense Z
- 1.72
- 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
- cell adhesion
- homophilic cell adhesion via plasma membrane adhesion molecules
- nervous system development
- serotonergic neuron axon guidance
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cadherin-like
- Cadherin, N-terminal
- Cadherin-like superfamily
- Cadherin conserved site
- Cadherin, C-terminal catenin-binding domain
- Cadherin, cytoplasmic C-terminal domain
- Protocadherin/Cadherin-related Cell Adhesion
- Cadherin domain
- Cadherin-like
- Cadherin C-terminal cytoplasmic tail, catenin-binding region
- Cadherin cytoplasmic C-terminal
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PCDHAC2 as an antibody target. Whether an autoantibody or antibody against PCDHAC2 could matter depends on whether native PCDHAC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PCDHAC2 is annotated at the cell surface, where native PCDHAC2 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 PCDHAC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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