DEFB106B

defensin beta 106B, the group of Defensins, beta

Basic information

Region (hg38): 8:7482504-7486400

Links

ENSG00000187082 ∙ NCBI:503841 ∙ ∙ HGNC:28879 ∙ Uniprot:Q8N104 ∙ 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 DEFB106B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB106B 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						0
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	0	0

Variants in DEFB106B

This is a list of pathogenic ClinVar variants found in the DEFB106B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-7482659-T-C		not specified	Uncertain significance (Jan 27, 2025)
8-7482714-T-G		not specified	Uncertain significance (Aug 23, 2021)
8-7482725-C-T		not specified	Uncertain significance (Dec 28, 2022)
8-7482739-A-C		not specified	Uncertain significance (Jan 30, 2025)
8-7486356-G-A			Likely benign (Mar 01, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB106B	protein_coding	protein_coding	ENST00000335479	2	3897

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0812	0.565	101904	0	1	101905	0.00000491

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.569	18	26.2	0.687	0.00000125	418
Missense in Polyphen		4	7.7242	0.51786		115
Synonymous	1.50	4	10.0	0.399	5.13e-7	107
Loss of Function	-0.241	1	0.772	1.30	3.24e-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	0.0000513	0.0000513
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: Has antibacterial activity (PubMed:12600824). Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:23938203). {ECO:0000269|PubMed:12600824, ECO:0000269|PubMed:23938203}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Recessive Scores

• pRec: 0.0344

Haploinsufficiency Scores

• pHI: 0.00769

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	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Defb34