SEC23B |
- 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)