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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ateleiotic dwarfism Pathogenic rs587779356, rs587779348 RCV000115046
RCV000115047
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rothmund-Thomson syndrome type 3 Pathogenic; Likely pathogenic rs587779356, rs587779348, rs1558716043, rs757078301, rs2466595181, rs771238795 RCV000116206
RCV000116207
RCV002281649
RCV000240836
RCV004526293
View all (1 more)
★★★★★
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
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRIPT-related disorder Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
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
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Complex partial seizure with impairment of consciousness Dyscognitive seizures HPO_DG
★☆☆☆☆
Found in Text Mining only
Complex partial seizures Seizure HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot HPO_DG
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism BEFREE 27250922
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 37013901 Associate
★☆☆☆☆
Found in Text Mining only
Exophthalmos Proptosis HPO_DG
★☆☆☆☆
Found in Text Mining only