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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 Isolated Growth Hormone Deficiency, Type Ia. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for CRIPT Gene

Promoters and enhancers for CRIPT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I046615 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 568.9 +0.5 514 2.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B CRIPT PIGF ENSG00000253515 ENSG00000225187 ATP6V1E2
GH02I046616 Promoter 0.5 EPDnew 550.8 -1.2 -1205 0.1 CRIPT PIGF LOC100506142
GH02I046567 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.4 -46.9 -46878 4.3 HDAC1 PKNOX1 ATF1 BATF IRF4 ZNF766 SCRT2 ATF7 ETV6 IKZF2 ATP6V1E2 CRIPT RHOQ ENSG00000253515 SOCS5 LOC100506142
GH02I046519 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.3 -95.6 -95604 2 IKZF1 EBF1 IKZF2 RELA ATP6V1E2 ENSG00000253515 CRIPT LOC101805491 TTC7A RHOQ GC02M046499
GH02I046634 Enhancer 0.7 ENCODE dbSUPER 19.8 +18.8 18760 0.5 SP1 PKNOX1 FOXA2 RFX1 FOXA3 FOSL2 FOXA1 GC02M046630 LOC105374584 CRIPT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRIPT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRIPT gene promoter:

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

No Post-translational modifications

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 IEA,ISS --
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:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0014069 postsynaptic density ISS,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 ISS,IEA --
GO:0035372 protein localization to microtubule IEA,ISS --
GO:0045184 establishment of protein localization IEA,ISS --
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
Regions:
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 Variation AA Info Type
rs587779348 pathogenic, Ateleiotic dwarfism, Short stature with microcephaly and distinctive facies 46,623,765(+) TTT/TT coding_sequence_variant, frameshift
rs587779356 pathogenic, Ateleiotic dwarfism, Short stature with microcephaly and distinctive facies 46,619,677(+) G/GGG coding_sequence_variant, frameshift
rs757078301 likely-pathogenic, Short stature with microcephaly and distinctive facies, Short stature with microcephaly and distinctive facies (SSMF) [MIM:615789] 46,617,290(+) G/A coding_sequence_variant, missense_variant
rs1000111389 -- 46,626,998(+) A/G 3_prime_UTR_variant
rs1000839661 -- 46,619,008(+) A/G intron_variant

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for CRIPT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Genomic analysis of primordial dwarfism reveals novel disease genes. (PMID: 24389050) Shaheen R … Alkuraya FS (Genome research 2014) 3 4 58
  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 44 58
  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 44 58
  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 58

Products for CRIPT Gene

Sources for CRIPT Gene

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