DEFB106A

defensin beta 106A, the group of Defensins, beta

Basic information

Region (hg38): 8:7825139-7829053

Previous symbols: [ "DEFB106" ]

Links

ENSG00000186579 ∙ NCBI:245909 ∙ ∙ HGNC:18088 ∙ 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 DEFB106A gene.

• not_specified (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB106A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152251.4. 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						0
missense			8	4		12
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	8	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB106A	protein_coding	protein_coding	ENST00000335186	2	3882

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00858	0.366	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.402	15	20.1	0.748	9.09e-7	411
Missense in Polyphen		4	5.2916	0.75591		107
Synonymous	0.138	7	7.48	0.936	3.95e-7	105
Loss of Function	-2.66	2	0.336	5.96	1.39e-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: 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)

Haploinsufficiency Scores

• pHI: 0.0323
• hipred: N
• hipred_score: 0.238
• ghis: 0.468

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

Gene ontology

• Biological process: innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;antifungal innate immune response
• Cellular component: nucleus;extrinsic component of membrane;microvesicle
• Molecular function: lipopolysaccharide binding;protein binding;heparin binding;CCR2 chemokine receptor binding