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COX7A2L |
Gene Facts External Data Attribution
- HGNC Symbol
- COX7A2L (HGNC:2289) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cytochrome c oxidase subunit 7A2 like
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- EB1, COX7RP, COX7AR, SIG81, SCAF1, SCAFI
- %HI
- 46.84(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.77(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:42562699-42596097 NCBI Ensembl UCSC GRCh38/hg38: chr2:42335559-42368957 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004718.4 ENST00000234301.3 (Read more about MANE Select)
- Function
- Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity). {ECO:0000250|UniProtKB:Q61387}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-17998
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)
