SEMA3B

semaphorin 3B, the group of Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes

Basic information

Region (hg38): 3:50267557-50277546

Previous symbols: [ "SEMAA" ]

Links

ENSG00000012171 ∙ NCBI:7869 ∙ OMIM:601281 ∙ HGNC:10724 ∙ Uniprot:Q13214 ∙ 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 SEMA3B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEMA3B 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	12	2	15
missense			40	11	1	52
nonsense						0
start loss						0
frameshift			1		1	2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2	5		7
non coding			1	2		3
Total	0	0	43	25	4

Variants in SEMA3B

This is a list of pathogenic ClinVar variants found in the SEMA3B region.

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

Position	Type	Phenotype	Significance	ClinVar
3-50269247-C-T		SEMA3B-related disorder • not specified	Uncertain significance (Mar 19, 2024)
3-50269251-C-A		not specified	Uncertain significance (Jan 09, 2024)
3-50269253-G-A		SEMA3B-related disorder	Uncertain significance (Mar 09, 2023)
3-50269265-G-A		SEMA3B-related disorder • not specified	Conflicting classifications of pathogenicity (Feb 23, 2024)
3-50269301-C-G		not specified	Uncertain significance (Sep 30, 2021)
3-50269303-G-A		SEMA3B-related disorder	Likely benign (Jan 30, 2023)
3-50269320-G-GC		SEMA3B-related disorder	Benign (Jun 17, 2021)
3-50269328-C-T		SEMA3B-related disorder	Likely benign (Mar 29, 2023)
3-50269329-G-A		SEMA3B-related disorder	Uncertain significance (Feb 14, 2024)
3-50270172-C-T		not specified	Uncertain significance (Jan 24, 2024)
3-50270208-G-A		SEMA3B-related disorder	Uncertain significance (Nov 30, 2023)
3-50270214-G-A		SEMA3B-related disorder	Uncertain significance (Feb 02, 2024)
3-50270230-C-T		SEMA3B-related disorder	Uncertain significance (Feb 27, 2024)
3-50270231-G-A		SEMA3B-related disorder	Likely benign (Feb 16, 2022)
3-50270239-T-C		SEMA3B-related disorder	Likely benign (Dec 11, 2023)
3-50270261-A-G		not specified	Uncertain significance (Oct 13, 2023)
3-50270263-C-T		SEMA3B-related disorder	Likely benign (Jul 13, 2021)
3-50270274-G-A		SEMA3B-related disorder	Uncertain significance (Nov 21, 2023)
3-50270428-G-A		SEMA3B-related disorder	Likely benign (Jun 11, 2022)
3-50270444-G-A		SEMA3B-related disorder	Likely benign (Jul 13, 2021)
3-50270936-C-T		not specified	Uncertain significance (Dec 08, 2023)
3-50270957-C-T		SEMA3B-related disorder	Uncertain significance (Sep 08, 2022)
3-50271001-C-T		SEMA3B-related disorder	Uncertain significance (May 22, 2023)
3-50271009-G-C		Neurodevelopmental disorder	Uncertain significance (Jan 01, 2019)
3-50271012-A-G		SEMA3B-related disorder	Likely benign (Aug 29, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. {ECO:0000250}.
• Pathway: Axon guidance - Homo sapiens (human);Vitamin D Receptor Pathway (Consensus)

Recessive Scores

• pRec: 0.147

Haploinsufficiency Scores

• pHI: 0.378

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.288

Mouse Genome Informatics

• Gene name: Sema3b
• 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); normal phenotype

Gene ontology

• Biological process: neural crest cell migration;cell-cell signaling;axon guidance;positive regulation of cell migration;negative regulation of axon extension involved in axon guidance;negative chemotaxis;chemorepulsion of axon;semaphorin-plexin signaling pathway
• Cellular component: extracellular space;endoplasmic reticulum;integral component of plasma membrane
• Molecular function: semaphorin receptor binding;neuropilin binding;chemorepellent activity