CRIPT (CXXC repeat containing interactor of PDZ3 domain)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9419 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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CXXC repeat containing interactor of PDZ3 domain |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CRIPT |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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HSPC139, RTS3, SSMDF |
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Chromosome
Chromosome number
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2 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p21 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provi |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q9P021 | ||||||||||
| Protein name | Cysteine-rich PDZ-binding protein (Cysteine-rich interactor of PDZ three) (Cysteine-rich interactor of PDZ3) | ||||||||||
| Protein function | As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses (By similarity). {ECO:0000250|UniProtKB:Q792Q4, ECO:0000305|PubM | ||||||||||
| PDB | 7DVQ | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 101 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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