CFL2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CFL2 (HGNC:1875) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cofilin 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- NEM7
- %HI
- 4.83(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.11(Read more about gnomAD pLI score)
- LOEUF
- 0.91(Read more about gnomAD LOEUF score)
- Cytoband
- 14q13.1
- Genomic Coordinates
-
GRCh37/hg19: chr14:35178319-35183799 NCBI Ensembl UCSC GRCh38/hg38: chr14:34709113-34714593 NCBI Ensembl UCSC - MANE Select Transcript
- NM_138638.5 ENST00000298159.11 (Read more about MANE Select)
- Function
- Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity). {ECO:0... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-18477
ClinGen Curation ID:
CCID:006847
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- nemaline myopathy 7 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)