PCDHGB4 (protocadherin gamma subfamily B, 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8641
Gene name Protocadherin gamma subfamily B, 4
Gene symbol PCDHGB4
Synonyms (NCBI Gene)
CDH20FIB2PCDH-GAMMA-B4
Chromosome 5
Chromosome location 5q31.3
Summary 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 regul
miRNA miRNA information provided by mirtarbase database.
10
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT051244 hsa-miR-16-5p CLASH 23622248
MIRT038306 hsa-miR-130b-5p CLASH 23622248
MIRT497901 hsa-miR-4691-3p PAR-CLIP 22291592
MIRT497900 hsa-miR-3157-5p PAR-CLIP 22291592
MIRT497899 hsa-miR-218-1-3p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0007155 Process Cell adhesion IBA
GO:0007155 Process Cell adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603058 8711 ENSG00000253953
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UN71
Protein name Protocadherin gamma-B4 (PCDH-gamma-B4) (Cadherin-20) (Fibroblast cadherin-2)
Protein function Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 32 → 112 Cadherin-like Domain
PF00028 Cadherin 138 → 233 Cadherin domain Domain
PF00028 Cadherin 247 → 336 Cadherin domain Domain
PF00028 Cadherin 353 → 441 Cadherin domain Domain
PF00028 Cadherin 455 → 551 Cadherin domain Domain
PF00028 Cadherin 575 → 661 Cadherin domain Domain
PF16492 Cadherin_C_2 685 → 766 Cadherin cytoplasmic C-terminal Family
PF15974 Cadherin_tail 801 → 923 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence 
MGSGAGELGRAERLPVLFLFLLSLFCPALCEQIRYRIPEEMPKGSVVGNLATDLGFSVQE
LPTRKLRVSSEKPYFTVSAESGELLVSSRLDREEICGKKPACALEFEAVAENPLNFYHVN
VEIEDINDHTPKFTQNSFELQISESAQPGTRFILGSAHDADIGSNTLQNYQLSPSDHFSL
INKEKSDGSKYPEMVLKTPLDREKQKSYHLTLTALDFGAPPLSSTAQIHVLVTDANDNAP
VFSQDVYRVSLSENVYPGTTVLQVTATDQDEGVNAEITFSFSEASQITQFDLNSNTGEIT
VLNTLDFEEVKEYSIVLEARDGGGMIAQCTVEVEVIDENDNAPEVIFQSLPNLIMEDAEL
GTHIALLKVRDKDSRHNGEVTCKLEGDVPFKILTSSRNTYKLVTDAVLDREQNPEYNITV
TATDRGKPPLSSSSSITLHIGDVNDNAPVFSQSSYIVHVAENNPPGASISQVRASDPDLG
PNGQVSYCIMASDLEQRELSSYVSISAESGVVFAQRAFDHEQLRAFELTLQARDQGSPAL
SANVSLRVLVDDRNDNAPRVLYPALGPDGSALFDMVPHAAEPGYLVTKVVAVDADSGHNA
WLSYHVLQASEPGLFSLGLRTGEVRTARALGDRDAVRQRLLVAVRDGGQPPLSATATLHL
VFADSLQEVLPDITDRPDPSDLQAELQFYLVVALALISVLFLVAMILAIALRLRRSSSPA
SWSCFQPGLCVKSESVVPPNYSEGTLPYSYNLCVAHTGKTEFNFLKCSEQLSSGQDILCG
DSSGALFPLCNSSELTSHQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ
AMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAG
KRDGKAPAGGNGNKKKSGKKEKK
Sequence length 923
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations