Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9419
Gene name Gene Name - the full gene name approved by the HGNC.
CXXC repeat containing interactor of PDZ3 domain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRIPT
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC139, RTS3, SSMDF
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587779348 T>- Pathogenic Coding sequence variant, frameshift variant
rs587779356 ->GG Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT711911 hsa-miR-1277-5p HITS-CLIP 19536157
MIRT711910 hsa-miR-656-3p HITS-CLIP 19536157
MIRT711909 hsa-miR-486-5p HITS-CLIP 19536157
MIRT711908 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT711907 hsa-miR-3671 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11937501, 20018661, 32814053
GO:0005681 Component Spliceosomal complex IEA
GO:0005737 Component Cytoplasm IEA
GO:0006397 Process MRNA processing IEA
GO:0008017 Function Microtubule binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604594 14312 ENSG00000119878
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

Accession ID Position in sequence Description Type
PF10235 Cript 11 100 Microtubule-associated protein CRIPT Family
Sequence
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)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Rothmund-Thomson Syndrome Rothmund-Thomson syndrome, type 3 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Epilepsy Associate 37013901
Hypersensitivity Delayed Associate 37013901
Pituitary dwarfism 1 Associate 24389050
Rothmund Thomson Syndrome Associate 37013901
Seizures Associate 37013901