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Aliases for CRIPT Gene

Aliases for CRIPT Gene

  • CXXC Repeat Containing Interactor Of PDZ3 Domain 2 3 5
  • Cysteine-Rich Interactor Of PDZ Three 3 4
  • Cysteine-Rich PDZ-Binding Protein 2 3
  • Cysteine-Rich Interactor Of PDZ3 3 4
  • Postsynaptic Protein CRIPT 3
  • HSPC139 3
  • SSMDF 3

External Ids for CRIPT Gene

Previous GeneCards Identifiers for CRIPT Gene

  • GC02P046862
  • GC02P047013
  • GC02P046802
  • GC02P046818
  • GC02P046755
  • GC02P046697
  • GC02P046843

Summaries for CRIPT Gene

Entrez Gene Summary for CRIPT 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. [provided by RefSeq, Jun 2014]

GeneCards Summary for CRIPT Gene

CRIPT (CXXC Repeat Containing Interactor Of PDZ3 Domain) is a Protein Coding gene. Diseases associated with CRIPT include Short Stature With Microcephaly And Distinctive Facies and Growth Hormone Deficiency, Isolated, Type Ia. GO annotations related to this gene include protein complex binding and PDZ domain binding.

UniProtKB/Swiss-Prot for CRIPT Gene

  • Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.

Gene Wiki entry for CRIPT Gene

Additional gene information for CRIPT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRIPT Gene

Genomics for CRIPT Gene

Regulatory Elements for CRIPT Gene

Enhancers for CRIPT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H046615 1.1 ENCODE 18.8 +0.5 514 2.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 CRIPT ENSG00000253515 ENSG00000225187 ATP6V1E2 PIGF
GH02H046567 1.3 Ensembl ENCODE dbSUPER 15.4 -46.9 -46879 4.3 HDAC1 PKNOX1 ATF1 BATF ZKSCAN1 RELA ZNF766 POLR2A SCRT2 ZNF600 ATP6V1E2 CRIPT RHOQ ENSG00000253515 SOCS5 LOC100506142
GH02H046634 0.8 ENCODE dbSUPER 19.8 +18.8 18760 0.5 PKNOX1 FOXA2 RFX1 FOXA3 FOXA1 CRIPT GC02M046630 LOC105374584
GH02H046519 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.3 -95.6 -95604 2 EED IKZF1 IKZF2 RELA ENSG00000253515 CRIPT ATP6V1E2 LOC101805491 TTC7A RHOQ GC02M046499
GH02H046631 0.6 dbSUPER 19.4 +16.3 16299 1.5 CTCF ZNF654 REST RAD21 GATA3 MAFF ZNF585B SMC3 MAFK CRIPT SOCS5 PIGF GC02M046630
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRIPT on UCSC Golden Path with GeneCards custom track

Promoters for CRIPT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000116670 484 2201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207

Genomic Locations for CRIPT Gene

Genomic Locations for CRIPT Gene
chr2:46,616,416-46,630,176
(GRCh38/hg38)
Size:
13,761 bases
Orientation:
Plus strand
chr2:46,843,555-46,852,881
(GRCh37/hg19)

Genomic View for CRIPT Gene

Genes around CRIPT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRIPT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRIPT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRIPT Gene

Proteins for CRIPT Gene

  • Protein details for CRIPT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P021-CRIPT_HUMAN
    Recommended name:
    Cysteine-rich PDZ-binding protein
    Protein Accession:
    Q9P021

    Protein attributes for CRIPT Gene

    Size:
    101 amino acids
    Molecular mass:
    11216 Da
    Quaternary structure:
    • Interacts with TUBB1. Interacts strongly with the PDZ3 domain of members of the DLG4 family. Associates with microtubules (By similarity). Interacts with DLG4.

neXtProt entry for CRIPT Gene

Post-translational modifications for CRIPT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRIPT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRIPT Gene

Domains & Families for CRIPT Gene

Gene Families for CRIPT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CRIPT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CRIPT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P021

UniProtKB/Swiss-Prot:

CRIPT_HUMAN :
  • Belongs to the CRIPT family.
Family:
  • Belongs to the CRIPT family.
genes like me logo Genes that share domains with CRIPT: view

Function for CRIPT Gene

Molecular function for CRIPT Gene

UniProtKB/Swiss-Prot Function:
Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.

Gene Ontology (GO) - Molecular Function for CRIPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11937501
GO:0008017 microtubule binding ISS,IEA --
GO:0030165 PDZ domain binding IEA,IDA 17474715
GO:0032403 protein complex binding ISS,IEA --
GO:0097110 scaffold protein binding IDA 17474715
genes like me logo Genes that share ontologies with CRIPT: view

Phenotypes for CRIPT Gene

genes like me logo Genes that share phenotypes with CRIPT: view

Human Phenotype Ontology for CRIPT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRIPT Gene

MGI Knock Outs for CRIPT:

Animal Model Products

miRNA for CRIPT Gene

miRTarBase miRNAs that target CRIPT

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for CRIPT Gene

Localization for CRIPT Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRIPT Gene

Cytoplasm. Cell junction, synapse. Cell projection, dendritic spine. Note=Colocalizes with DLG4 in asymmetric synapses. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRIPT gene
Compartment Confidence
nucleus 5
extracellular 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRIPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0014069 postsynaptic density ISS,IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CRIPT: view

Pathways & Interactions for CRIPT Gene

SuperPathways for CRIPT Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRIPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031122 cytoplasmic microtubule organization IEA,ISS --
GO:0035372 protein localization to microtubule IEA,ISS --
GO:0045184 establishment of protein localization ISS,IEA --
GO:1902897 regulation of postsynaptic density protein 95 clustering IEA,ISS --
genes like me logo Genes that share ontologies with CRIPT: view

No data available for Pathways by source and SIGNOR curated interactions for CRIPT Gene

Drugs & Compounds for CRIPT Gene

No Compound Related Data Available

Transcripts for CRIPT Gene

mRNA/cDNA for CRIPT Gene

Unigene Clusters for CRIPT Gene

Cysteine-rich PDZ-binding protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRIPT Gene

No ASD Table

Relevant External Links for CRIPT Gene

GeneLoc Exon Structure for
CRIPT
ECgene alternative splicing isoforms for
CRIPT

Expression for CRIPT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRIPT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRIPT Gene

This gene is overexpressed in Breast (31.2) and CD4 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CRIPT Gene



Protein tissue co-expression partners for CRIPT Gene

NURSA nuclear receptor signaling pathways regulating expression of CRIPT Gene:

CRIPT

SOURCE GeneReport for Unigene cluster for CRIPT Gene:

Hs.133998

Evidence on tissue expression from TISSUES for CRIPT Gene

  • Nervous system(4.4)
  • Kidney(4.2)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRIPT Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CRIPT: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CRIPT Gene

Orthologs for CRIPT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CRIPT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRIPT 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia CRIPT 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRIPT 33 34
  • 96.37 (n)
cow
(Bos Taurus)
Mammalia CRIPT 33 34
  • 94.06 (n)
mouse
(Mus musculus)
Mammalia Cript 33 16 34
  • 90.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CRIPT 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cript 33
  • 89.44 (n)
chicken
(Gallus gallus)
Aves CRIPT 33 34
  • 82.18 (n)
lizard
(Anolis carolinensis)
Reptilia CRIPT 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cript 33
  • 80.2 (n)
Str.1099 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14004 33
zebrafish
(Danio rerio)
Actinopterygii cript 33
  • 77.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010721 33
  • 68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4537 35 33 34
  • 58.68 (n)
worm
(Caenorhabditis elegans)
Secernentea C36B1.14 34
  • 42 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G61780 33
  • 62.24 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7291 33
rice
(Oryza sativa)
Liliopsida Os08g0190800 33
  • 61.86 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.667 33
corn
(Zea mays)
Liliopsida Zm.8100 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3282 34
  • 68 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4340 33
Species where no ortholog for CRIPT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRIPT Gene

ENSEMBL:
Gene Tree for CRIPT (if available)
TreeFam:
Gene Tree for CRIPT (if available)

Paralogs for CRIPT Gene

Pseudogenes.org Pseudogenes for CRIPT Gene

genes like me logo Genes that share paralogs with CRIPT: view

No data available for Paralogs for CRIPT Gene

Variants for CRIPT Gene

Sequence variations from dbSNP and Humsavar for CRIPT Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs757078301 Likely pathogenic, Short stature with microcephaly and distinctive facies (SSMF) [MIM:615789] 46,617,290(+) GGTGT(A/G)CGAAA upstream-variant-2KB, reference, missense
rs587779348 Pathogenic 46,623,767(+) AGATT(-/T)GATCC reference, frameshift-variant
rs587779356 Pathogenic 46,619,677(+) AAAAG(-/GG)CAAGG reference, frameshift-variant
rs1000111389 -- 46,626,998(+) TGGCT(A/G)ATTTT utr-variant-3-prime
rs1000839661 -- 46,619,008(+) TTCTC(A/G)GTTAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CRIPT Gene

Variant ID Type Subtype PubMed ID
nsv1009735 CNV loss 25217958
esv2759046 CNV loss 17122850

Variation tolerance for CRIPT Gene

Residual Variation Intolerance Score: 46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRIPT Gene

Human Gene Mutation Database (HGMD)
CRIPT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRIPT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRIPT Gene

Disorders for CRIPT Gene

MalaCards: The human disease database

(5) MalaCards diseases for CRIPT Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short stature with microcephaly and distinctive facies
  • ssmf
growth hormone deficiency, isolated, type ia
  • isolated growth hormone deficiency type ia
charcot-marie-tooth disease, type 2d
  • charcot-marie-tooth disease type 2d
3-m syndrome 1
  • 3-m syndrome
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search CRIPT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRIPT_HUMAN
  • Short stature with microcephaly and distinctive facies (SSMF) [MIM:615789]: A disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge. {ECO:0000269 PubMed:24389050, ECO:0000269 PubMed:27250922}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRIPT

Genetic Association Database (GAD)
CRIPT
Human Genome Epidemiology (HuGE) Navigator
CRIPT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRIPT
genes like me logo Genes that share disorders with CRIPT: view

No data available for Genatlas for CRIPT Gene

Publications for CRIPT Gene

  1. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. (PMID: 27250922) Leduc MS … Lalani SR (American journal of medical genetics. Part A 2016) 3 4 60
  2. Genomic analysis of primordial dwarfism reveals novel disease genes. (PMID: 24389050) Shaheen R … Alkuraya FS (Genome research 2014) 3 4 60
  3. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 45 60
  4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 45 60
  5. A thermodynamic ligand binding study of the third PDZ domain (PDZ3) from the mammalian neuronal protein PSD-95. (PMID: 17474715) Saro D … Spaller MR (Biochemistry 2007) 3 4 60

Products for CRIPT Gene

Sources for CRIPT Gene

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