SEC23B SEC23 homolog B, COPII coat complex component

Gene ID: 10483, updated on 6-Oct-2024
Gene type: protein coding
Also known as: CWS7; CDAII; CDAN2; CDA-II; HEMPAS; hSec23B

Summary

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital dyserythropoietic anemia, type II MedGen: C1306589OMIM: 224100GeneReviews: Not available	See labs
Cowden syndrome 7 MedGen: C4225179OMIM: 616858GeneReviews: Not available	See labs

Genomic context

Location:: 20p11.23

Sequence:: Chromosome: 20; NC_000020.11 (18507548..18561415)

Total number of exons:: 21

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SEC23B variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SEC23B database
Variation Viewer
Related Variants

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