PCDHGB4

Protein identityUniProt · HPA

UniProt accession

Q9UN71

Gene

PCDHGB4

Ensembl

ENSG00000253953

Chromosome

5

Canonical length

923 aa

Protein class

Predicted membrane proteins

Subcellular location

Nucleoplasm,Vesicles,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

923 residues, UniProt reviewed canonical sequence.

>Q9UN71|PCDHGB4
     1  MGSGAGELGR AERLPVLFLF LLSLFCPALC EQIRYRIPEE MPKGSVVGNL ATDLGFSVQE
    61  LPTRKLRVSS EKPYFTVSAE SGELLVSSRL DREEICGKKP ACALEFEAVA ENPLNFYHVN
   121  VEIEDINDHT PKFTQNSFEL QISESAQPGT RFILGSAHDA DIGSNTLQNY QLSPSDHFSL
   181  INKEKSDGSK YPEMVLKTPL DREKQKSYHL TLTALDFGAP PLSSTAQIHV LVTDANDNAP
   241  VFSQDVYRVS LSENVYPGTT VLQVTATDQD EGVNAEITFS FSEASQITQF DLNSNTGEIT
   301  VLNTLDFEEV KEYSIVLEAR DGGGMIAQCT VEVEVIDEND NAPEVIFQSL PNLIMEDAEL
   361  GTHIALLKVR DKDSRHNGEV TCKLEGDVPF KILTSSRNTY KLVTDAVLDR EQNPEYNITV
   421  TATDRGKPPL SSSSSITLHI GDVNDNAPVF SQSSYIVHVA ENNPPGASIS QVRASDPDLG
   481  PNGQVSYCIM ASDLEQRELS SYVSISAESG VVFAQRAFDH EQLRAFELTL QARDQGSPAL
   541  SANVSLRVLV DDRNDNAPRV LYPALGPDGS ALFDMVPHAA EPGYLVTKVV AVDADSGHNA
   601  WLSYHVLQAS EPGLFSLGLR TGEVRTARAL GDRDAVRQRL LVAVRDGGQP PLSATATLHL
   661  VFADSLQEVL PDITDRPDPS DLQAELQFYL VVALALISVL FLVAMILAIA LRLRRSSSPA
   721  SWSCFQPGLC VKSESVVPPN YSEGTLPYSY NLCVAHTGKT EFNFLKCSEQ LSSGQDILCG
   781  DSSGALFPLC NSSELTSHQQ APPNTDWRFS QAQRPGTSGS QNGDDTGTWP NNQFDTEMLQ
   841  AMILASASEA ADGSSTLGGG AGTMGLSARY GPQFTLQHVP DYRQNVYIPG SNATLTNAAG
   901  KRDGKAPAGG NGNKKKSGKK EKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCDHGB4 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)

0.42

Highest tissue expression

2.8 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)

0.94

gnomAD pLI

0

gnomAD missense Z

0.33

DepMap mean gene effect

0.01

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

• calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
• cell adhesion
• homophilic cell adhesion via plasma membrane adhesion molecules
• nervous system development

Molecular functions

• calcium ion binding
• cell adhesion molecule binding

Cellular components

• membrane
• plasma membrane

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

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