SEMA3B

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

Basic information

Region (hg38): 3:50267558-50277546

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.

SEMA3B-related_disorder (181 variants)
not_specified (37 variants)
not_provided (1 variants)
Neurodevelopmental_disorder (1 variants)

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. These statistics are base on transcript: NM_001290060.2. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			12 clinvar	42 clinvar	2 clinvar	56
missense			113 clinvar	18 clinvar		131
nonsense			1 clinvar			1
start loss						0
frameshift			3 clinvar		1 clinvar	4
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	132	60	3

Loading clinvar variants...

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
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
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