Gene Gene information from NCBI Gene database.
Entrez ID 9419
Gene name CXXC repeat containing interactor of PDZ3 domain
Gene symbol CRIPT
Synonyms (NCBI Gene)
HSPC139RTS3SSMDF
Chromosome 2
Chromosome location 2p21
Summary 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.
2
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.
494
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604594 14312 ENSG00000119878
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ateleiotic dwarfism Pathogenic rs587779356, rs587779348 RCV000115046
RCV000115047
Rothmund-Thomson syndrome type 3 Pathogenic; Likely pathogenic rs587779356, rs587779348, rs1558716043, rs757078301, rs2466595181, rs771238795 RCV000116206
RCV000116207
RCV002281649
RCV000240836
RCV004526293
RCV001254147
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CRIPT-related disorder Uncertain significance; Benign rs748070966, rs60552651 RCV003408375
RCV004754647
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2466577725 RCV004560207
Associations from Text MiningDisease 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