DOC2B

double C2 domain beta, the group of Synaptotagmin like tandem C2 proteins

Basic information

Region (hg38): 17:142789-181650

Previous symbols: [ "DOC2BL" ]

Links

ENSG00000272636 ∙ NCBI:8447 ∙ OMIM:604568 ∙ HGNC:2986 ∙ Uniprot:Q14184 ∙ 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 DOC2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOC2B 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	29	2	0

Variants in DOC2B

This is a list of pathogenic ClinVar variants found in the DOC2B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-156260-C-T		not specified	Uncertain significance (Sep 16, 2021)
17-160690-C-G			Likely benign (Nov 01, 2022)
17-161456-G-A		not specified	Uncertain significance (Aug 13, 2021)
17-161480-G-A		not specified	Uncertain significance (Jun 26, 2023)
17-161486-G-A		not specified	Uncertain significance (Jan 23, 2025)
17-161512-C-T		not specified	Uncertain significance (Dec 26, 2023)
17-161525-C-T		not specified	Uncertain significance (Sep 17, 2021)
17-162088-T-C		not specified	Uncertain significance (Dec 02, 2024)
17-162093-C-T		not specified	Uncertain significance (Dec 14, 2024)
17-162118-C-T		not specified	Uncertain significance (Feb 08, 2025)
17-162143-T-C			Likely benign (Jul 01, 2022)
17-162162-C-T		not specified	Uncertain significance (Mar 12, 2024)
17-164182-T-C		not specified	Uncertain significance (Sep 07, 2022)
17-164192-T-C		not specified	Uncertain significance (Sep 22, 2023)
17-164194-G-A		not specified	Uncertain significance (Mar 03, 2022)
17-172547-G-A		not specified	Uncertain significance (Mar 20, 2023)
17-172554-T-C		not specified	Uncertain significance (Dec 19, 2023)
17-172593-T-C		not specified	Uncertain significance (Jun 03, 2022)
17-172604-G-A		not specified	Uncertain significance (Aug 05, 2024)
17-181114-G-T		not specified	Uncertain significance (Dec 06, 2022)
17-181230-C-T		not specified	Uncertain significance (May 13, 2024)
17-181239-C-G		not specified	Uncertain significance (Apr 15, 2024)
17-181242-C-G		not specified	Uncertain significance (Dec 19, 2023)
17-181278-C-A		not specified	Uncertain significance (Dec 06, 2024)
17-181293-C-T		not specified	Uncertain significance (Jan 08, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOC2B	protein_coding	protein_coding	ENST00000343572	6	25618

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0171	0.898	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.67	71	123	0.576	0.00000773	1955
Missense in Polyphen		28	55.18	0.50743		644
Synonymous	-0.0611	52	51.4	1.01	0.00000329	629
Loss of Function	1.45	4	8.59	0.466	3.64e-7	135

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: Calcium sensor which positively regulates SNARE- dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes (By similarity). {ECO:0000250, ECO:0000269|PubMed:9804756}.

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.224
• hipred: Y
• hipred_score: 0.506

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.217

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Doc2b
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: protein localization;positive regulation of vesicle fusion;positive regulation of insulin secretion;positive regulation of calcium ion-dependent exocytosis;calcium ion-regulated exocytosis of neurotransmitter
• Cellular component: cytoplasm;plasma membrane;SNARE complex;presynapse
• Molecular function: calcium ion binding;calcium-dependent phospholipid binding;syntaxin binding