PCDHGB1 (protocadherin gamma subfamily B, 1)

Gene

• Entrez ID: 56104
• Gene name: Protocadherin gamma subfamily B, 1
• Gene symbol: PCDHGB1
• Synonyms (NCBI Gene): PCDH-GAMMA-B1
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0030426	Component	Growth cone	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

Other IDs

• MIM: 606299
• HGNC: 8708
• e!Ensembl: ENSG00000254221

Protein

• UniProt ID: Q9Y5G3
• Protein name: Protocadherin gamma-B1 (PCDH-gamma-B1)
• 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	30 → 109	Cadherin-like	Domain
  PF00028	Cadherin	135 → 230	Cadherin domain	Domain
  PF00028	Cadherin	244 → 334	Cadherin domain	Domain
  PF00028	Cadherin	348 → 439	Cadherin domain	Domain
  PF00028	Cadherin	453 → 549	Cadherin domain	Domain
  PF00028	Cadherin	574 → 659	Cadherin domain	Domain
  PF16492	Cadherin_C_2	683 → 765	Cadherin cytoplasmic C-terminal	Family
  PF15974	Cadherin_tail	805 → 927	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MQRAREAEMMKSQVLFPFLLSLFCGAISQQIRYTIPEELANGSRVGKLAKDLGLSVRELP
  TRKLRVSAEDYFNVSLESGDLLVNGRIDREKICGRKLECALEFETVAENPMNVFHVVVVI
  QDINDNAPRFVAKGIDLEICESALPGVKFSLDSAQDADVEGNSLKLYTINPNQYFSLSTK
  ESPDGSKYPVLLLEKPLDREHQSSHRLILTAMDGGDPPLSGTTHIWIRVTDANDNAPVFS
  QEVYRVSLQENVPWGTSVLRVMATDQDEGINAEITYAFLNSPISTSLFNLNPNTGDITTN
  GTLDFEETSRYVLSVEAKDGGVHTAHCNVQIEIVDENDNAPEVTFMSFSNQIPEDSDLGT
  VIALIKVRDKDSGQNGMVTCYTQEEVPFKLESTSKNYYKLVIAGALNREQTADYNVTIIA
  TDKGKPALSSRTSITLHISDINDNAPVFHQASYVVHVSENNPPGASIAQVSASDPDLGPN
  GRVSYSILASDLEPRELLSYVSVSPQSGVVFAQRAFDHEQLRAFELTLQARDQGSPALSA
  NVSLRVLVGDLNDNAPRVLYPALGPDGSALFDMVPRAAEPGYLVTKVVAVDADSGHNAWL
  SYHVLQASEPGLFSLGLRTGEVRTARALGDRDAARQRLLVAVRDGGQPPLSATATLHLIF
  ADSLQEVLPDLSDRPEPSDPQTELQFYLVVALALISVLFLLAVILAIALRLRRSSSLDTE
  GCFQTGLCSKSGPGVPPNHSEGTLPYSYNLCIASHSAKTEFNSLNLTPEMAPPQDLLCDD
  PSMVVCASNEDHKIAYDPSLSSHQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT
  EMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLT
  NAAGKRDGKAPAGGNGNKKKSGKKEKK

• Sequence length: 927

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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