CRIPT CXXC repeat containing interactor of PDZ3 domain
Gene ID: 9419, updated on 5-Mar-2024Gene type: protein coding
Also known as: SSMDF; HSPC139
- See all available tests in GTR for this gene
- Go to complete Gene record for CRIPT
- Go to Variation Viewer for CRIPT variants
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. [provided by RefSeq, Jun 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. GeneReviews: Not available | |
| Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. GeneReviews: Not available | |
| Short stature with microcephaly and distinctive facies | See labs |
Genomic context
- Location:
- 2p21
- Sequence:
- Chromosome: 2; NC_000002.12 (46617215..46630176)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CRIPT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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