SEC22B

SEC22 homolog B, vesicle trafficking protein, the group of SNAREs

Basic information

Region (hg38): 1:120150897-120176520

Previous symbols: [ "SEC22L1" ]

Links

ENSG00000265808 ∙ NCBI:9554 ∙ OMIM:604029 ∙ HGNC:10700 ∙ Uniprot:O75396 ∙ 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 SEC22B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEC22B 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER. {ECO:0000269|PubMed:15272311}.
• Pathway: Legionellosis - Homo sapiens (human);Phagosome - Homo sapiens (human);SNARE interactions in vesicular transport - Homo sapiens (human);Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Cargo concentration in the ER;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;ER-Phagosome pathway;COPII-mediated vesicle transport;ER to Golgi Anterograde Transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Mouse Genome Informatics

• Gene name: Sec22b
• Phenotype: skeleton phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;endoplasmic reticulum to Golgi vesicle-mediated transport;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;protein transport;positive regulation of protein catabolic process;COPII vesicle coating;vesicle fusion with Golgi apparatus;negative regulation of autophagosome assembly;vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane
• Cellular component: Golgi membrane;endoplasmic reticulum;endoplasmic reticulum membrane;endoplasmic reticulum-Golgi intermediate compartment;synaptic vesicle;ER to Golgi transport vesicle membrane;integral component of membrane;transport vesicle;phagocytic vesicle membrane;SNARE complex;endoplasmic reticulum-Golgi intermediate compartment membrane;melanosome
• Molecular function: SNAP receptor activity;protein binding;syntaxin binding