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The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility ... See more...
Aliases for CRTAP Gene
Aliases for CRTAP Gene
External Ids for CRTAP Gene
- HGNC: 2379
- Entrez Gene: 10491
- Ensembl: ENSG00000170275
- OMIM: 605497
- UniProtKB: O75718
Previous GeneCards Identifiers for CRTAP Gene
- GC03P032462
- GC03P033002
- GC03P033127
- GC03P033130
- GC03P033155
- GC03P033083
Summaries for CRTAP Gene
-
The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
GeneCards Summary for CRTAP Gene
CRTAP (Cartilage Associated Protein) is a Protein Coding gene. Diseases associated with CRTAP include Osteogenesis Imperfecta, Type Vii and Osteogenesis Imperfecta, Type Ii. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. An important paralog of this gene is P3H4.
UniProtKB/Swiss-Prot Summary for CRTAP Gene
-
Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.
Additional gene information for CRTAP Gene
- Monarch Initiative
- Search for CRTAP at DataMed
- Search for CRTAP at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRTAP Gene
Genomics for CRTAP Gene
GeneHancer (GH) Regulatory Elements for CRTAP Gene
Promoters and enhancers for CRTAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CRTAP on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CRTAP gene promoter:
-
- HEN1
- Hlf
- HSF2
- Nkx5-1
- NRSF form 1
- NRSF form 2
- POU2F1
- POU2F1a
- RORalpha1
- Sp1
Genomic Locations for CRTAP Gene
Genomic Locations for CRTAP Gene
- chr3:33,113,958-33,147,773
- (GRCh38/hg38)
- Size:
- 33,816 bases
- Orientation:
- Plus strand
- chr3:33,155,450-33,189,265
- (GRCh37/hg19)
- Size:
- 33,816 bases
- Orientation:
- Plus strand
Genomic View for CRTAP Gene
Genes around CRTAP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p22.3 by HGNC
- 3p22.3 by Entrez Gene
- 3p22.3 by Ensembl
CRTAP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CRTAP Gene
Proteins for CRTAP Gene
-
Protein details for CRTAP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75718-CRTAP_HUMAN
- Recommended name:
- Cartilage-associated protein
- Protein Accession:
- O75718
- B2RBL6
Protein attributes for CRTAP Gene
- Size:
- 401 amino acids
- Molecular mass:
- 46562 Da
- Quaternary structure:
- No Data Available
Protein Expression for CRTAP Gene
Post-translational modifications for CRTAP Gene
Other Protein References for CRTAP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-CRTAP Antibody (HPA043598) and Anti-CRTAP Antibody (HPA044150)
- Novus Biologicals Antibodies for CRTAP
-
Abcam antibodies for CRTAP
- Invitrogen Antibodies for CRTAP (AFLGC-CRTAP)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CRTAP
Protein Products
-
OriGene Purified Proteins for CRTAP
- Search Origene for MassSpec and Protein Over-expression Lysates for CRTAP
- Origene Custom Protein Services for CRTAP
- ProSpec Recombinant Proteins for CRTAP
- antibodies-online: Show 11 available CRTAP Proteins ranked by validation data
- Compare Top CRTAP Proteins
-
Quality Products:
-
Abcam proteins for CRTAP
Assay Products
- Aviva Systems Biology CRTAP ELISA Kit (Human) (OKDD00209) and CRTAP ELISA Kit (Human) (OKCD09189)
- antibodies-online: Show 15 available CRTAP Elisa Kits ranked by validation data
- Compare Top CRTAP Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CRTAP Gene
Domains & Families for CRTAP Gene
Gene Families for CRTAP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted secreted proteins
Protein Domains for CRTAP Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CRTAP Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA PSEC0091 fis, clone PLACE1001683, highly similar to Cartilage-associated protein (B3KQR7_HUMAN)
- cDNA FLJ40331 fis, clone TESTI2031687, highly similar to Cartilage-associated protein (B3KUP0_HUMAN)
- cDNA FLJ55123, highly similar to Cartilage-associated protein (B4DPA3_HUMAN)
- Cartilage-associated protein (CRTAP_HUMAN)
- cDNA FLJ34453 fis, clone HLUNG2002429, highly similar to Homo sapiens cartilage-associated protein (Q8NB01_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75718- Family:
-
- Belongs to the leprecan family.
Function for CRTAP Gene
Molecular function for CRTAP Gene
- UniProtKB/Swiss-Prot Function:
- Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.
Phenotypes From GWAS Catalog for CRTAP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | ISS | -- |
Phenotypes for CRTAP Gene
- MGI mutant phenotypes for CRTAP:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CRTAP:
Animal Models for CRTAP Gene
- MGI Knock Outs for CRTAP:
-
- Crtap Crtap<tm1Brle>
Animal Model Products
-
Taconic Biosciences Mouse Models for CRTAP
CRISPR Products
-
OriGene CRISPR knockouts for CRTAP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CRTAP
- genomics-online: gRNA clones - Search for available CRTAP gRNA products
- Overview of 107 available CRTAP gene related products
- Applied Biological Materials (abm): CRISPR Clones for CRTAP - Select products 50% OFF >
- * CRTAP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CRTAP CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CRTAP
miRNA for CRTAP Gene
- miRTarBase miRNAs that target CRTAP
-
- hsa-mir-7-5p (MIRT025763)
- hsa-mir-98-5p (MIRT027681)
- hsa-mir-1296-5p (MIRT036134)
- hsa-mir-296-3p (MIRT038419)
- hsa-mir-484 (MIRT041994)
- hsa-mir-5187-5p (MIRT409755)
- hsa-mir-4524b-3p (MIRT409756)
- hsa-mir-6757-5p (MIRT409759)
- hsa-mir-493-3p (MIRT478796)
- hsa-mir-570-3p (MIRT478797)
- hsa-mir-5683 (MIRT478798)
- hsa-mir-6862-5p (MIRT478799)
- hsa-mir-4253 (MIRT478800)
- hsa-mir-24-3p (MIRT478801)
- hsa-mir-4284 (MIRT478802)
- hsa-mir-3622b-5p (MIRT478803)
- hsa-mir-6089 (MIRT478804)
- hsa-mir-539-5p (MIRT478805)
- hsa-mir-3934-5p (MIRT478806)
- hsa-mir-552-3p (MIRT478807)
- hsa-mir-548m (MIRT478808)
- hsa-mir-3611 (MIRT478809)
- hsa-mir-7150 (MIRT478810)
- hsa-mir-4736 (MIRT478811)
- hsa-mir-4763-3p (MIRT478812)
- hsa-mir-1207-5p (MIRT478813)
- hsa-mir-3665 (MIRT478814)
- hsa-mir-7854-3p (MIRT478815)
- hsa-mir-6134 (MIRT478816)
- hsa-mir-4699-5p (MIRT478817)
- hsa-mir-6865-5p (MIRT478818)
- hsa-mir-6815-5p (MIRT478819)
- hsa-mir-940 (MIRT478820)
- hsa-mir-6893-5p (MIRT478821)
- hsa-mir-6808-5p (MIRT478822)
- hsa-mir-4496 (MIRT478823)
- hsa-mir-3714 (MIRT478824)
- hsa-mir-4662a-3p (MIRT478825)
- hsa-mir-548an (MIRT478826)
- hsa-mir-3915 (MIRT560813)
- hsa-mir-3928-3p (MIRT560814)
- hsa-mir-6780a-5p (MIRT638815)
- hsa-mir-6779-5p (MIRT638816)
- hsa-mir-3689c (MIRT638817)
- hsa-mir-3689b-3p (MIRT638818)
- hsa-mir-3689a-3p (MIRT638819)
- hsa-mir-30b-3p (MIRT638820)
- hsa-mir-1273h-5p (MIRT638821)
- hsa-mir-7977 (MIRT638822)
- hsa-mir-4769-5p (MIRT638823)
- hsa-mir-4654 (MIRT638824)
- hsa-mir-6778-5p (MIRT638825)
- hsa-mir-1233-5p (MIRT638826)
- hsa-mir-4648 (MIRT638827)
- hsa-mir-6799-5p (MIRT638828)
- hsa-mir-6883-5p (MIRT638829)
- hsa-mir-6785-5p (MIRT638830)
- hsa-mir-4728-5p (MIRT638831)
- hsa-mir-149-3p (MIRT638832)
- hsa-mir-7106-5p (MIRT638833)
- hsa-mir-134-3p (MIRT638834)
- hsa-mir-383-3p (MIRT638835)
- hsa-mir-6511a-5p (MIRT638836)
- hsa-mir-1910-3p (MIRT638837)
- hsa-mir-4318 (MIRT638838)
- hsa-mir-3155a (MIRT740429)
- hsa-mir-3155b (MIRT740440)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CRTAP
- Browse OriGene Inhibitory RNA Products For CRTAP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRTAP
- genomics-online: shRNA clones - Search for available CRTAP shRNA products
- Overview of 107 available CRTAP gene related products
Clone Products
- Sino Biological Human cDNA Clone for CRTAP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CRTAP
- genomics-online: cdna clones - Search for available CRTAP CDNA products
- Overview of 107 available CRTAP gene related products
- orf clones - Search for available CRTAP ORF products
- Overview of 107 available CRTAP gene related products
- Applied Biological Materials (abm): Clones for CRTAP - Select products 50% OFF >
- * CRTAP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CRTAP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for CRTAP
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CRTAP Gene
Localization for CRTAP Gene
Subcellular locations from UniProtKB/Swiss-Prot for CRTAP Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 2 |
| cytoskeleton | 1 |
| lysosome | 0 |
| golgi apparatus | 0 |
- Actin filaments (2)
- Cytosol (2)
- Intermediate filaments (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IDA | 19846465 |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 19846465 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0032991 | protein-containing complex | ISS | -- |
Pathways & Interactions for CRTAP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Degradation of the extracellular matrix | ||
Pathways by source for CRTAP Gene
3 Reactome pathways for CRTAP Gene
Interacting Proteins for CRTAP Gene
GPS-Prot Interaction Network for CRTAP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007283 | spermatogenesis | IEA | -- |
| GO:0018400 | peptidyl-proline hydroxylation to 3-hydroxy-L-proline | IEA | -- |
| GO:0050821 | protein stabilization | IMP | 19846465 |
| GO:0061077 | chaperone-mediated protein folding | ISS | -- |
| GO:1901874 | negative regulation of post-translational protein modification | IMP | 19846465 |
No data available for SIGNOR curated interactions for CRTAP Gene
Transcripts for CRTAP Gene
mRNA/cDNA for CRTAP Gene
- (1) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (15) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000320954 6630 bps (ENST00000320954.10)
- ENST00000449224 1811 bps (ENST00000449224.1)
- ENST00000485310 562 bps (ENST00000485310.1)
CRISPR Products
-
OriGene CRISPR knockouts for CRTAP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CRTAP
- genomics-online: gRNA clones - Search for available CRTAP gRNA products
- Overview of 107 available CRTAP gene related products
- Applied Biological Materials (abm): CRISPR Clones for CRTAP - Select products 50% OFF >
- * CRTAP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CRTAP CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CRTAP
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CRTAP
- Browse OriGene Inhibitory RNA Products For CRTAP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRTAP
- genomics-online: shRNA clones - Search for available CRTAP shRNA products
- Overview of 107 available CRTAP gene related products
Clone Products
- Sino Biological Human cDNA Clone for CRTAP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CRTAP
- genomics-online: cdna clones - Search for available CRTAP CDNA products
- Overview of 107 available CRTAP gene related products
- orf clones - Search for available CRTAP ORF products
- Overview of 107 available CRTAP gene related products
- Applied Biological Materials (abm): Clones for CRTAP - Select products 50% OFF >
- * CRTAP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CRTAP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for CRTAP Gene
This gene is overexpressed in Bone (29.2), Bone marrow stromal cell (10.7), and Fetal testis (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRTAP Gene
NURSA nuclear receptor signaling pathways regulating expression of CRTAP Gene:
CRTAPSOURCE GeneReport for Unigene cluster for CRTAP Gene:
Hs.517888mRNA Expression by UniProt/SwissProt for CRTAP Gene:
O75718-CRTAP_HUMAN
Tissue specificity:
Found in articular chondrocytes. Expressed in a variety of tissues.
Evidence on tissue expression from TISSUES for CRTAP Gene
- Nervous system(4.9)
- Kidney(4.6)
- Skin(3.9)
- Lung(3.5)
- Eye(2.7)
- Intestine(2.7)
- Gall bladder(2.1)
- Adrenal gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CRTAP Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- skull
- tongue
- tooth
- vocal cord
Thorax:
- chest wall
- clavicle
- heart
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- biliary tract
- intestine
- kidney
- liver
- stomach
Pelvis:
- pelvis
- ureter
- uterus
- vagina
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
- blood vessel
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for CRTAP
-
OriGene qPCR primer pairs and template standards for CRTAP
- genomics-online: primer clones - Search for available CRTAP Primer products
- Overview of 107 available CRTAP gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CRTAP Gene
Orthologs for CRTAP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CRTAP 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CRTAP 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CRTAP 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Crtap 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC102555086 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CRTAP 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CRTAP 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CRTAP 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CRTAP 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | crtap 32 |
|
||
| Str.12426 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24676 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | crtap 33 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003898 32 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_Y73F8A.26 32 |
|
||
| Y73F8A.26 33 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
- Species where no ortholog for CRTAP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- 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 (Oryza sativa)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for CRTAP Gene
- ENSEMBL:
- Gene Tree for CRTAP (if available)
- TreeFam:
- Gene Tree for CRTAP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CRTAP: view image
Paralogs for CRTAP Gene
Variants for CRTAP Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112399944 | uncertain-significance, Osteogenesis Imperfecta, Recessive | 33,143,809(+) | G/A/C | 3_prime_UTR_variant | |
| rs1127898 | benign, Osteogenesis Imperfecta, Recessive | 33,144,864(+) | T/C | 3_prime_UTR_variant | |
| rs1132392 | benign, Osteogenesis Imperfecta, Recessive | 33,145,933(+) | G/A | 3_prime_UTR_variant | |
| rs1135127 | benign, not specified, Osteogenesis Imperfecta, Recessive, Osteogenesis imperfecta type 7, - | 33,132,664(+) | T/C/G | coding_sequence_variant, synonymous_variant | |
| rs1135128 | benign, not specified, Osteogenesis Imperfecta, Recessive, Osteogenesis imperfecta type 7 | 33,132,676(+) | G/A | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1292944 | OTHER | inversion | 17803354 |
| nsv1003285 | CNV | gain | 25217958 |
| nsv590050 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.89;
79.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CRTAP Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRTAP Gene
Disorders for CRTAP Gene
(14) MalaCards diseases for CRTAP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| osteogenesis imperfecta, type vii |
|
|
| osteogenesis imperfecta, type ii |
|
|
| osteogenesis imperfecta, type iv |
|
|
| osteogenesis imperfecta, type iii |
|
|
| osteogenesis imperfecta, type viii |
|
|
Search CRTAP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CRTAP_HUMAN- Osteogenesis imperfecta 7 (OI7) [MIM:610682]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency. {ECO:0000269 PubMed:17055431, ECO:0000269 PubMed:18566967, ECO:0000269 PubMed:19550437, ECO:0000269 PubMed:21955071}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CRTAP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CRTAP Gene
Publications for CRTAP Gene
- CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. (PMID: 19550437) Van Dijk FS … Pals G (European journal of human genetics : EJHG 2009) 3 4 23 56
- CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. (PMID: 18566967) Baldridge D … Lee B (Human mutation 2008) 3 4 23 56
- cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). (PMID: 10702664) Tonachini L … Castagnola P (Cytogenetics and cell genetics 1999) 3 4 23 56
- Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. (PMID: 19727905) Li GH … Huang QY (Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2010) 3 43 56
- Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. (PMID: 19846465) Chang W … Marini JC (Human molecular genetics 2010) 3 23 56
ExternalLinks
Products for CRTAP Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CRTAP
- Search Origene for MassSpec and Protein Over-expression Lysates for CRTAP
- Origene Custom Protein Services for CRTAP
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CRTAP
- Browse OriGene Inhibitory RNA Products For CRTAP
- OriGene qPCR primer pairs for CRTAP
- OriGene qPCR primer pairs and template standards for CRTAP
- OriGene CRISPR knockouts for CRTAP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CRTAP
- Sino Biological Human cDNA Clone for CRTAP
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CRTAP
- Novus Biologicals proteins and lysates for CRTAP
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CRTAP
- Abcam proteins for CRTAP
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for CRTAP
- Taconic Biosciences Mouse Models for CRTAP
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CRTAP (AFLGC-CRTAP)
- antibodies-online: Show 16 available CRTAP Antibodies ranked by validation data
- Compare Top CRTAP Antibodies
- antibodies-online: Show 15 available CRTAP Elisa Kits ranked by validation data
- Compare Top CRTAP Elisa Kits
- Quality Products:
- antibodies-online: Show 11 available CRTAP Proteins ranked by validation data
- Compare Top CRTAP Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for CRTAP
- Search Santa Cruz Biotechnology (SCBT) for CRTAP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CRTAP
- Horizon Cell Lines for CRTAP
- genomics-online: cdna clones - Search for available CRTAP CDNA products
- Overview of 107 available CRTAP gene related products
- orf clones - Search for available CRTAP ORF products
- Overview of 107 available CRTAP gene related products
- genomics-online: gRNA clones - Search for available CRTAP gRNA products
- Overview of 107 available CRTAP gene related products
- genomics-online: primer clones - Search for available CRTAP Primer products
- Overview of 107 available CRTAP gene related products
- genomics-online: shRNA clones - Search for available CRTAP shRNA products
- Overview of 107 available CRTAP gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CRTAP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CRTAP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CRTAP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRTAP
Sources for CRTAP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource