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CEACAM16 |
Gene Facts External Data Attribution
- HGNC Symbol
- CEACAM16 (HGNC:31948) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CEA cell adhesion molecule 16, tectorial membrane component
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DFNA4B
- %HI
- 58.2(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.14(Read more about gnomAD LOEUF score)
- Cytoband
- 19q13.31-q13.32
- Genomic Coordinates
-
GRCh37/hg19: chr19:45202421-45213990 NCBI Ensembl UCSC GRCh38/hg38: chr19:44699151-44710718 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001039213.4 ENST00000587331.7 (Read more about MANE Select)
- Function
- Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane. {ECO:0000269|PubMed:21368133, ECO:0000269|PubMed:25589040, ECO:0000269|PubMed:29703829}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-3052
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_000019.9)
(NC_000019.10)
