• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SEC23B (HGNC:10702) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SEC23 homolog B, COPII coat complex component
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CDAN2
Alias symbols
CDA-II, CDAII, HEMPAS
%HI
45.77(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.98(Read more about gnomAD LOEUF score)
Cytoband
20p11.23
Genomic Coordinates
GRCh37/hg19: chr20:18488192-18542059 NCBI Ensembl UCSC
GRCh38/hg38: chr20:18507548-18561415 NCBI Ensembl UCSC
MANE Select Transcript
NM_006363.6 ENST00000650089.1 (Read more about MANE Select)
Function
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. {ECO:0000250|UniProtKB:Q15436}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8929
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital dyserythropoietic anemia type 2 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)