PCDHB2

protocadherin beta 2, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141094606-141098703

Links

ENSG00000112852 ∙ NCBI:56133 ∙ OMIM:606328 ∙ HGNC:8687 ∙ Uniprot:Q9Y5E7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PCDHB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			53	5	2	60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	53	6	4

Variants in PCDHB2

This is a list of pathogenic ClinVar variants found in the PCDHB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-141094794-G-C		not specified	Uncertain significance (Jan 24, 2025)
5-141094845-T-C		not specified	Uncertain significance (Oct 01, 2024)
5-141094855-T-C		not specified	Uncertain significance (Feb 22, 2025)
5-141094869-C-G		not specified	Uncertain significance (Aug 12, 2022)
5-141094947-G-A		not specified	Uncertain significance (Mar 14, 2023)
5-141094986-G-A		not specified	Uncertain significance (Dec 22, 2023)
5-141095068-A-G		not specified	Uncertain significance (Jun 17, 2024)
5-141095073-G-A		not specified	Uncertain significance (Dec 21, 2023)
5-141095124-C-G		not specified	Uncertain significance (Jan 20, 2025)
5-141095139-C-G		not specified	Uncertain significance (Sep 22, 2023)
5-141095230-G-A		not specified	Uncertain significance (Oct 29, 2024)
5-141095252-C-G		not specified	Uncertain significance (Oct 12, 2022)
5-141095257-T-C		not specified	Uncertain significance (May 03, 2023)
5-141095262-C-A		not specified	Uncertain significance (Oct 02, 2023)
5-141095366-A-G		not specified	Uncertain significance (Oct 19, 2024)
5-141095401-G-T		not specified	Uncertain significance (Jul 14, 2021)
5-141095433-A-G		not specified	Uncertain significance (Mar 14, 2025)
5-141095448-G-A		not specified	Uncertain significance (May 16, 2022)
5-141095578-T-C		not specified	Uncertain significance (Feb 15, 2023)
5-141095611-G-C		not specified	Uncertain significance (Jan 02, 2025)
5-141095793-G-C		not specified	Uncertain significance (Aug 15, 2024)
5-141095812-A-T		not specified	Uncertain significance (Apr 25, 2022)
5-141095821-A-G		not specified	Uncertain significance (Nov 18, 2022)
5-141095830-C-T		not specified	Uncertain significance (Jun 16, 2023)
5-141095843-G-A		not specified	Likely benign (Feb 21, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PCDHB2	protein_coding	protein_coding	ENST00000194155	1	2736

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.73e-7	0.713	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.252	470	486	0.968	0.0000310	5125
Missense in Polyphen		134	143.78	0.93198		1642
Synonymous	0.844	223	240	0.931	0.0000187	1724
Loss of Function	1.19	12	17.4	0.691	7.47e-7	213

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Intolerance Scores

• loftool: 0.945
• rvis_EVS: 1.65
• rvis_percentile_EVS: 96.21

Haploinsufficiency Scores

• pHI: 0.141
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Pcdhb2

Gene ontology

• Biological process: cell adhesion;homophilic cell adhesion via plasma membrane adhesion molecules;chemical synaptic transmission;nervous system development;synapse assembly;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
• Cellular component: integral component of plasma membrane;integral component of membrane
• Molecular function: calcium ion binding