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COL11A2 |
Gene Facts External Data Attribution
- HGNC Symbol
- COL11A2 (HGNC:2187) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- collagen type XI alpha 2 chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA13, DFNB53
- Alias symbols
- HKE5
- %HI
- 27.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.5(Read more about gnomAD LOEUF score)
- Cytoband
- 6p21.32
- Genomic Coordinates
-
GRCh37/hg19: chr6:33130471-33160244 NCBI Ensembl UCSC GRCh38/hg38: chr6:33162694-33193519 NCBI Ensembl UCSC - MANE Select Transcript
- NM_080680.3 ENST00000341947.7 (Read more about MANE Select)
- Function
- May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27189
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)
