DEFB4B

defensin beta 4B, the group of Defensins, beta

Basic information

Region (hg38): 8:7414854-7416863

Previous symbols: [ "DEFB4P" ]

Links

ENSG00000177257 ∙ NCBI:100289462 ∙ ∙ HGNC:30193 ∙ Uniprot:O15263 ∙ 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 DEFB4B gene.

• Inborn genetic diseases (2 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB4B 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		1
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	1	0

Variants in DEFB4B

This is a list of pathogenic ClinVar variants found in the DEFB4B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-7414984-T-C		not specified	Uncertain significance (Dec 27, 2023)
8-7415020-T-C		not specified	Uncertain significance (Mar 11, 2022)
8-7415079-C-G		not specified	Uncertain significance (Jun 11, 2021)
8-7416788-A-T		not specified	Uncertain significance (Aug 19, 2021)
8-7416807-G-A			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB4B	protein_coding	protein_coding	ENST00000318157	2	2004

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0680	0.534	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.190	17	19.4	0.878	8.72e-7	385
Missense in Polyphen		0	2.258	0		40
Synonymous	-0.367	7	5.87	1.19	2.49e-7	114
Loss of Function	-0.763	1	0.448	2.23	1.88e-8	11

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: Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells (PubMed:20068036). {ECO:0000269|PubMed:20068036}.
• Pathway: IL-17 signaling pathway - Homo sapiens (human);Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Haploinsufficiency Scores

• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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