Gene Gene information from NCBI Gene database.
Entrez ID 1827
Gene name Regulator of calcineurin 1
Gene symbol RCAN1
Synonyms (NCBI Gene)
ADAPT78CSP1DSC1DSCR1MCIP1RCN1
Chromosome 21
Chromosome location 21q22.12
Summary The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotyp
miRNA miRNA information provided by mirtarbase database.
420
miRTarBase ID miRNA Experiments Reference
MIRT005055 hsa-let-7b-5p Microarray 17699775
MIRT018955 hsa-miR-335-5p Microarray 18185580
MIRT023116 hsa-miR-124-3p Microarray 18668037
MIRT049031 hsa-miR-92a-3p CLASH 23622248
MIRT627717 hsa-miR-4668-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
STAT2 Unknown 22426484
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0002931 Process Response to ischemia IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0004864 Function Protein phosphatase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 12809556, 15935327, 21965663, 33961781, 35914814
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602917 3040 ENSG00000159200
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53805
Protein name Calcipressin-1 (Adapt78) (Down syndrome critical region protein 1) (Myocyte-enriched calcineurin-interacting protein 1) (MCIP1) (Regulator of calcineurin 1)
Protein 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:00002
PDB 6UUQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04847 Calcipressin 75 246 Calcipressin Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed heart, brain and skeletal muscle. Also expressed in all other tissues.
Sequence
Sequence length 252
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Thyroid hormone signaling pathway
Oxytocin signaling pathway
Kaposi sarcoma-associated herpesvirus infection
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 30139658
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17088906
★☆☆☆☆
Found in Text Mining only
Akinetic-Rigid Variant of Huntington Disease Akinetic-Rigid Variant Of Huntington Disease CTD_human_DG 19270310
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12716059, 21838211, 24735980, 27872486, 33633844, 39192218 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 17331188, 21838211, 32566665 Stimulate
★☆☆☆☆
Found in Text Mining only
Anus Neoplasms Anus neoplasm Pubtator 22333708 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 24155299
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 24155299
★☆☆☆☆
Found in Text Mining only
Aortic Rupture Aortic Rupture BEFREE 30442942
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 24127415, 29106519, 29561322
★☆☆☆☆
Found in Text Mining only