RCAN1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RCAN1 (HGNC:3040) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- regulator of calcineurin 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DSCR1
- Alias symbols
- No aliases found
- %HI
- 38.75(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 1.07(Read more about gnomAD LOEUF score)
- Cytoband
- 21q22.12
- Genomic Coordinates
-
GRCh37/hg19: chr21:35888740-35987412 NCBI Ensembl UCSC GRCh38/hg38: chr21:34516442-34615113 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004414.7 ENST00000313806.9 (Read more about MANE Select)
- Function
- Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A (PubMed:12809556). Could play a role during central nervous system development (By similarity). {ECO:0000250|UniProtKB:Q9JHG6, ECO:0000269|PubMed:12809556}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-35401
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/27/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
PMID:20101688 Eggermann et al. found a paternally inherited ~0.5 Mb duplication including RCAN1 and KCNE1 in a patient with Silver-Russell syndrome, but cardiac abnormalities or other DS features were not present.
Genomic View
Select assembly:
(NC_000021.8)
(NC_000021.9)