CRIPT

Chr 2p21

CXXC repeat containing interactor of PDZ3 domain

Aliases:: HSPC139
MANE:: ENST00000238892.4

OMIM: 604594 ↗NCBI: 9419 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CRIPT · Q9P021

v62025-08-01

Predicted Aligned Error matrix for CRIPT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.8/ 100

Confident

101 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)32%
Low(50–70)26%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
IUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Rothmund-Thomson syndrome type 3
0.74
neurodegenerative disease
0.53
Non-acquired isolated growth hormone deficiency
0.42
Nephropathy
0.25
nephritis
0.25
hereditary disease
0.19
placental abruption
0.02
plasma cell myeloma
0.02
Rothmund-Thomson syndrome
0.02
Neurodevelopmental delay
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cysteine-rich PDZ-binding protein

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)