Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1827 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Regulator of calcineurin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RCAN1 |
SynonymsGene synonyms aliases
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ADAPT78, CSP1, DSC1, DSCR1, MCIP1, RCN1 |
ChromosomeChromosome number
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21 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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21q22.12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
|
Transcription factor |
Regulation |
Reference |
STAT2 |
Unknown |
22426484 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
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 |
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Sequence |
|
Sequence length |
252 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital heart defects |
Congenital Heart Defects |
rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049 |
15906378 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
23143596, 30423114 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Akinetic-rigid variant of huntington disease |
Akinetic-Rigid Variant of Huntington Disease |
|
19270310 |
Down syndrome |
Down Syndrome, Down Syndrome, Partial Trisomy 21 |
|
15906378 |
Huntington disease |
Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease |
rs768047421 |
19270310 |
Liver carcinoma |
Liver carcinoma |
|
28284560 |
Malignant neoplasm |
Malignant Neoplasms |
|
29299148 |
Trisomy 21 |
Trisomy 21, Meiotic Nondisjunction, Trisomy 21, Mitotic Nondisjunction |
|
15906378 |
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