PCDHGB2

protocadherin gamma subfamily B, 2, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141359994-141512975

Links

ENSG00000253910 ∙ NCBI:56103 ∙ OMIM:606300 ∙ HGNC:8709 ∙ Uniprot:Q9Y5G2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 4.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_018923.3	NP_061746.1	4	yes	-
ENST00000522605.2	ENSP00000429018.1	4	yes	-
NM_032096.1	NP_115267.1	1	-	-
ENST00000622527.1	ENSP00000481512.1	1	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PCDHGB2 gene.

• not_specified (1992 variants)
• Inborn_genetic_diseases (103 variants)
• not_provided (58 variants)
• Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies (10 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (2 variants)
• Neurodevelopmental_disorder (1 variants)
• PCDHGC4-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHGB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_018923.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	1	4
missense			109	8		117
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	109	11	1

Highest pathogenic variant AF is 0.0000043382875

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP