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ERLEC1 |
Gene Facts External Data Attribution
- HGNC Symbol
- ERLEC1 (HGNC:25222) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- endoplasmic reticulum lectin 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C2orf30
- Alias symbols
- CL25084, XTP3TPB, XTP3-B, ERLECTIN
- %HI
- 22.79(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.95(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:54014181-54045933 NCBI Ensembl UCSC GRCh38/hg38: chr2:53787044-53818796 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015701.5 ENST00000185150.9 (Read more about MANE Select)
- Function
- Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non- glycosylated proteins and glycoproteins. {ECO:0000269|PubMed:16531414, ECO:0000269|PubMed:18264092, ECO:0000269|PubMed:18502753}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34057
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
