• 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)