PCDHB12

Protein identityUniProt · HPA

UniProt accession

Q9Y5F1

Gene

PCDHB12

Ensembl

ENSG00000120328

Chromosome

5

Canonical length

795 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

795 residues, UniProt reviewed canonical sequence.

>Q9Y5F1|PCDHB12
     1  MENGGAGTLQ IRQVLLFFVL LGMSQAGSET GNFLVMEELQ SGSFVGNLAK TLGLEVSELS
    61  SRGARVVSND NKECLQLDTN TGDLLLREML DREELCGSNE PCVLYFQVLM KNPTQFLQIE
   121  LQVRDINDHS PVFLEKEMLL EIPENSPVGA VFLLESAKDL DVGINAVKSY TINPNSHFHV
   181  KIRVNPDNRK YPELVLDKAL DYEERPELSF ILTALDGGSP PRSGTALVRV VVVDINDNSP
   241  EFEQAFYEVK ILENSILGSL VVTVSAWDLD SGTNSELSYT FSHASEDIRK TFEINQKSGD
   301  ITLTAPLDFE AIESYSIIIQ ATDGGGLFGK STVRIQVMDV NDNAPEITVS SITSPIPENT
   361  PETVVMVFRI RDRDSGDNGK MVCSIPEDIP FVLKSSVNNY YTLETERPLD RESRAEYNIT
   421  ITVTDLGTPR LKTEHNITVL VSDVNDNAPA FTQTSYALFV RENNSPALHI GSISATDRDS
   481  GTNAQVNYSL LPSQDPHLPL ASLVSINADN GHLFALRSLD YEALQGFQFR VGATDHGSPA
   541  LSSEALVRVL VLDANDNSPF VLYPLQNGSA PCTELVPWAA EPGYLVTKVV AVDGDSGQNA
   601  WLSYQLLKAT EPGLFGVWAH NGEVRTARLL SERDAAKHRL VVLVKDNGEP PRSATATLHV
   661  LLVDGFSQPY LPLPEAAPAQ AQADSLTVYL VVALASVSSL FLFSVLLFVA VRLCRRSRAA
   721  PVGRCSVPEG PFPGHLVDVS GTGTLSQSYH YEVCVTGGSR SNKFKFLKPI IPNFLPQSTG
   781  SEVEENPPFQ NNLGF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCDHB12 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)

0.37

Highest tissue expression

2.4 nTPM

Expression across tissuesHPA

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)

1.33

gnomAD pLI

0

gnomAD missense Z

-2.51

DepMap mean gene effect

0.12

DepMap dependency class

none

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

• cell adhesion
• homophilic cell adhesion via plasma membrane adhesion molecules
• nervous system development

Molecular functions

• calcium ion binding
• cell adhesion molecule binding

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Cadherin-like
• Cadherin, N-terminal
• Cadherin-like superfamily
• Cadherin conserved site
• Cadherin, cytoplasmic C-terminal domain
• Protocadherin/Cadherin-related Cell Adhesion
• Cadherin domain
• Cadherin-like
• Cadherin cytoplasmic C-terminal

KeywordsUniProt

• Calcium
• Cell adhesion
• Cell membrane
• Glycoprotein
• Membrane
• Repeat
• Signal
• Transmembrane
• Transmembrane helix