Aliases for CYP24A1 Gene
Aliases for CYP24A1 Gene
- Cytochrome P450 Family 24 Subfamily A Member 1 2 3 5
- Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase) 2 3
- Cytochrome P450, Family 24, Subfamily A, Polypeptide 1 2 3
- Vitamin D(3) 24-Hydroxylase 3 4
- Cytochrome P450 24A1 3 4
- Cytochrome P450-CC24 3 4
- 24-OHase 3 4
- CYP24 3 4
- 1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial 3
External Ids for CYP24A1 Gene
- HGNC: 2602
- Entrez Gene: 1591
- Ensembl: ENSG00000019186
- OMIM: 126065
- UniProtKB: Q07973
Previous HGNC Symbols for CYP24A1 Gene
- CYP24
Previous GeneCards Identifiers for CYP24A1 Gene
- GC20M052458
- GC20M053408
- GC20M053455
- GC20M052203
- GC20M052769
- GC20M049516
Summaries for CYP24A1 Gene
-
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYP24A1 Gene
CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP24A1 include Hypercalcemia, Infantile and Autosomal Recessive Infantile Hypercalcemia. Among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is CYP27A1.
UniProtKB/Swiss-Prot for CYP24A1 Gene
-
Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP24A1 Gene
Genomics for CYP24A1 Gene
Regulatory Elements for CYP24A1 Gene
Enhancers for CYP24A1 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 |
|---|---|---|---|---|---|---|---|---|
| GH20G054194 | 1.3 | Ensembl ENCODE | 18.1 | -21.6 | -21617 | 2.0 | FOXA2 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 TCF12 SLC30A9 | CYP24A1 PFDN4 LOC105372675 |
| GH20G054131 | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 11.3 | +40.5 | 40457 | 4.1 | HNRNPUL1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 | CYP24A1 PFDN4 BCAS1 |
| GH20G054121 | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 11.1 | +50.5 | 50483 | 5.0 | FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF143 FOS SP5 ZHX2 | CYP24A1 BCAS1 |
| GH20G054109 | 1.4 | FANTOM5 ENCODE dbSUPER | 14.7 | +63.8 | 63785 | 1.4 | ELF3 SOX13 FOXA2 SAP130 NFXL1 EBF1 RARA GATAD1 ETV6 NR2F6 | CYP24A1 PFDN4 BCAS1 |
| GH20G054148 | 1.5 | Ensembl ENCODE dbSUPER | 12.3 | +23.2 | 23228 | 5.0 | PKNOX1 FOXA2 SIN3A FEZF1 BRCA1 YY1 GTF3C2 REST TSHZ1 PBX2 | CYP24A1 PFDN4 BCAS1 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CYP24A1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CYP24A1 gene promoter:
Regulatory Element Products
Genomic Location for CYP24A1 Gene
- Chromosome:
- 20
- Start:
- 54,153,449 bp from pter
- End:
- 54,173,985 bp from pter
- Size:
- 20,537 bases
- Orientation:
- Minus strand
Genomic View for CYP24A1 Gene
Genes around CYP24A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.2 by Ensembl
- 20q13.2 by Entrez Gene
- 20q13.2 by HGNC
CYP24A1 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 CYP24A1 Gene
Proteins for CYP24A1 Gene
-
Protein details for CYP24A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q07973-CP24A_HUMAN
- Recommended name:
- 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
- Protein Accession:
- Q07973
- Q15807
- Q32ML3
- Q5I2W7
Protein attributes for CYP24A1 Gene
- Size:
- 514 amino acids
- Molecular mass:
- 58875 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
- No Data Available
Protein Expression for CYP24A1 Gene
Post-translational modifications for CYP24A1 Gene
Other Protein References for CYP24A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CYP24A1
-
Custom Antibody ServicesOriGene Antibodies for CYP24A1
- Novus Biologicals Antibodies for CYP24A1
-
Cloud-Clone Corp. Antibodies for CYP24A1
- Invitrogen Antibodies for CYP24A1
- antibodies-online Antibodies for CYP24A1: See all 82
- GeneTex CYP24A1 antibody for CYP24A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYP24A1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CYP24A1
- Origene Custom Protein Services for CYP24A1
- Novus Biologicals proteins for CYP24A1
-
Cloud-Clone Corp. Proteins for CYP24A1
- antibodies-online Proteins for CYP24A1: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CYP24A1
Assay Products
-
Cloud-Clone Corp Assay Kits for CYP24A1
- antibodies-online Kits for CYP24A1: See all 11
No data available for DME Specific Peptides for CYP24A1 Gene
Domains & Families for CYP24A1 Gene
Gene Families for CYP24A1 Gene
- HGNC:
- IUPHAR :
Protein Domains for CYP24A1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP24A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q07973- Family:
-
- Belongs to the cytochrome P450 family.
Function for CYP24A1 Gene
Molecular function for CYP24A1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Calcitriol + 2 reduced adrenodoxin + 2 H(+) + O(2) = calcitetrol + 2 oxidized adrenodoxin + H(2)O.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Calcidiol + 2 reduced adrenodoxin + 2 H(+) + O(2) = secalciferol + 2 oxidized adrenodoxin + H(2)O.
- UniProtKB/Swiss-Prot Function:
- Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product.
Enzyme Numbers (IUBMB) for CYP24A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004497 | monooxygenase activity | IEA | -- |
| GO:0005506 | iron ion binding | IEA | -- |
| GO:0008403 | 25-hydroxycholecalciferol-24-hydroxylase activity | IEA | -- |
| GO:0016491 | oxidoreductase activity | NAS | 7632726 |
| GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
Phenotypes for CYP24A1 Gene
- MGI mutant phenotypes for CYP24A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CYP24A1:
-
- Mitotic spindle defects
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased shRNA abundance (Z-score > 2)
Animal Models for CYP24A1 Gene
- MGI Knock Outs for CYP24A1:
-
- Cyp24a1 tm1Star
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYP24A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP24A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP24A1 gene
- Search ViGene Biosciences for CYP24A1
CRISPR Products
-
OriGene CRISPR knockouts for CYP24A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP24A1
- GenScript: Design CRISPR guide RNA sequences for CYP24A1
miRNA for CYP24A1 Gene
- miRTarBase miRNAs that target CYP24A1
-
- hsa-mir-125b-5p (MIRT004408)
- hsa-mir-215-5p (MIRT024646)
- hsa-mir-192-5p (MIRT026473)
- hsa-mir-26b-5p (MIRT029534)
- hsa-mir-4666b (MIRT614641)
- hsa-mir-4643 (MIRT614642)
- hsa-mir-8485 (MIRT614643)
- hsa-mir-654-3p (MIRT630104)
- hsa-mir-7157-3p (MIRT633072)
- hsa-mir-6737-3p (MIRT633073)
- hsa-mir-5008-3p (MIRT633074)
- hsa-mir-6889-3p (MIRT633075)
- hsa-mir-218-5p (MIRT638070)
- hsa-mir-3977 (MIRT638071)
- hsa-mir-636 (MIRT638072)
miRNA Products
- Search ViGene Biosciences for CYP24A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYP24A1
- Browse OriGene Inhibitory RNA Products For CYP24A1
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP24A1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CYP24A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP24A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CYP24A1
-
ViGene Biosciences adenoviral particle packaged cDNA for CYP24A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP24A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP24A1 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA6-12888) for CYP24A1
No data available for Transcription Factor Targets and HOMER Transcription for CYP24A1 Gene
Localization for CYP24A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CYP24A1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
Pathways & Interactions for CYP24A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Metabolism of fat-soluble vitamins | ||
| 4 | MicroRNAs in cancer | ||
| 5 | cholesterol biosynthesis I | ||
Pathways by source for CYP24A1 Gene
4 BioSystems pathways for CYP24A1 Gene
8 Reactome pathways for CYP24A1 Gene
3 KEGG pathways for CYP24A1 Gene
2 GeneGo (Thomson Reuters) pathways for CYP24A1 Gene
Interacting Proteins for CYP24A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001649 | osteoblast differentiation | IEP | 17023519 |
| GO:0006766 | vitamin metabolic process | TAS | -- |
| GO:0033280 | response to vitamin D | IDA | 16720713 |
| GO:0042359 | vitamin D metabolic process | TAS | -- |
| GO:0042369 | vitamin D catabolic process | NAS | 16720713 |
No data available for SIGNOR curated interactions for CYP24A1 Gene
Drugs & Compounds for CYP24A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcipotriol | Approved | Pharma | Agonist, Enzyme, substrate | Vitamin D3 analog,regulates cell differentiation and proliferation, Vitamin D3 analog | 0 | |
| Paricalcitol | Approved, Investigational | Pharma | Enzyme, substrate | Analog of VD2 active form, Analog of the active form of vitamin D2 | 0 | |
| Calcitriol | Approved | Nutra | Enzyme, substrate, inducer | TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist | 210 | |
| Calcidiol | Approved | Nutra | Enzyme, substrate | 0 | ||
| Ergocalciferol | Approved | Nutra | Enzyme, substrate | 1281 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (24R)-24,25-Dihydroxycalciol |
|
|
||||
| 24-Hydroxycalcitriol |
|
56142-94-0 |
|
|||
| Hydrogen Ion |
|
|
||||
| NADP |
|
53-59-8 |
|
|||
| nadph |
|
53-57-6 |
|
Transcripts for CYP24A1 Gene
mRNA/cDNA for CYP24A1 Gene
- (6) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (29) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CYP24A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CYP24A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP24A1
- GenScript: Design CRISPR guide RNA sequences for CYP24A1
miRNA Products
- Search ViGene Biosciences for CYP24A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYP24A1
- Browse OriGene Inhibitory RNA Products For CYP24A1
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP24A1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CYP24A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP24A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA6-12888) for CYP24A1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | · | 12d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||
| SP6: |
Expression for CYP24A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for CYP24A1 Gene
This gene is overexpressed in Kidney - Cortex (x22.7) and Bladder (x8.1).
This gene is overexpressed in Fetal Liver (48.0) and Fetal heart (20.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYP24A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CYP24A1 Gene:
CYP24A1SOURCE GeneReport for Unigene cluster for CYP24A1 Gene:
Hs.89663Evidence on tissue expression from TISSUES for CYP24A1 Gene
- Kidney(2.9)
- Intestine(2.2)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP24A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- ear
- eye
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- pituitary gland
- skull
Thorax:
- aorta
- esophagus
- heart
- heart valve
- lung
Abdomen:
- duodenum
- intestine
- kidney
- large intestine
- pancreas
- small intestine
- stomach
Pelvis:
- rectum
- ureter
General:
- blood
- blood vessel
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for CYP24A1
-
OriGene qPCR primer pairs for CYP24A1
No data available for mRNA Expression by UniProt/SwissProt for CYP24A1 Gene
Orthologs for CYP24A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYP24A1 35 |
|
OneToOne | |
| LOC746729 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | CYP24A1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CYP24A1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cyp24a1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cyp24a1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CYP24A1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP24A1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYP24A1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100496967 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp24a1 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008018 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp12b2 34 |
|
||
| sad 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | cyp-44A1 34 |
|
- Species where no ortholog for CYP24A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for CYP24A1 Gene
Variants for CYP24A1 Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs114368325 | Pathogenic, Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] | 54,158,136(+) | AGTCC(A/C/G)AGTTG | reference, missense | |
| rs387907322 | Pathogenic, Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] | 54,171,644(-) | GGTCC(A/C/G)GAGTG | reference, missense | |
| rs387907324 | Pathogenic, Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] | 54,162,743(-) | TCACA(A/G)AGCTC | reference, missense | |
| rs6068812 | Pathogenic, Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] | 54,158,096(+) | TGGGT(A/G)AAGCA | reference, missense | |
| rs387907323 | Pathogenic | 54,171,669(-) | ACAGG(G/T)AAGGG | reference, stop-gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2762085 | CNV | loss | 21179565 |
| esv28399 | CNV | loss | 19812545 |
| esv3302779 | CNV | tandem duplication | 20981092 |
| esv3568071 | CNV | loss | 25503493 |
| nsv1058882 | CNV | loss | 25217958 |
| nsv1063981 | CNV | loss | 25217958 |
| nsv1149112 | CNV | insertion | 26484159 |
| nsv586224 | CNV | gain | 21841781 |
| nsv586281 | CNV | loss | 21841781 |
| nsv834010 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.21;
62.09% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CYP24A1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP24A1 Gene
Disorders for CYP24A1 Gene
(6) MalaCards diseases for CYP24A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypercalcemia, infantile |
|
|
| autosomal recessive infantile hypercalcemia |
|
|
| osteomalacia |
|
|
| nephrocalcinosis |
|
|
| mineral metabolism disease |
|
|
Search CYP24A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CP24A_HUMAN- Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880]: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. {ECO:0000269 PubMed:21675912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CYP24A1
No data available for Genatlas for CYP24A1 Gene
Publications for CYP24A1 Gene
- Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PMID: 19255064) Ahn J. … Hayes R.B. (Carcinogenesis 2009) 3 22 46 64
- Vitamin D pathway gene variants and prostate cancer risk. (PMID: 19454612) Holt S.K. … Stanford J.L. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 22 46 64
- Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. (PMID: 17606874) Bailey R. … Todd J.A. (Diabetes 2007) 3 22 46 64
- Evidence for the activation of 1alpha-hydroxyvitamin D2 by 25-hydroxyvitamin D-24-hydroxylase: delineation of pathways involving 1alpha,24-dihydroxyvitamin D2 and 1alpha,25-dihydroxyvitamin D2. (PMID: 16516540) Masuda S. … Jones G. (Biochim. Biophys. Acta 2006) 3 22 25 64
- Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. (PMID: 16600026) Wjst M. … AndrAc E. (Respir. Res. 2006) 3 22 46 64
Products for CYP24A1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
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- Browse Cell Selection and Detection Kits
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- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CYP24A1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CYP24A1
- Origene Custom Protein Services for CYP24A1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYP24A1
- Browse OriGene Inhibitory RNA Products For CYP24A1
- OriGene qPCR primer pairs and template standards for CYP24A1
- OriGene qPCR primer pairs for CYP24A1
- OriGene CRISPR knockouts for CYP24A1
- OriGene ORF clones in human for CYP24A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CYP24A1
- GenScript: Next-day shipping cDNA ORF clone for CYP24A1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CYP24A1
- GenScript Custom Assay Services for CYP24A1
- GenScript Custom overexpressing Cell Line Services for CYP24A1
- GenScript: Design CRISPR guide RNA sequences for CYP24A1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CYP24A1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CYP24A1
- Novus Biologicals proteins for CYP24A1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for CYP24A1
- Cloud-Clone Corp. Proteins for CYP24A1
- Cloud-Clone Corp Assay Kits for CYP24A1
- antibodies-online Antibodies for CYP24A1: See all 82
- antibodies-online Kits for CYP24A1: See all 11
- antibodies-online Proteins for CYP24A1: See all 5
- Search antibodies-online for peptides
- GeneTex CYP24A1 antibody for CYP24A1
- Search GeneTex for Proteins for CYP24A1
- ViGene Biosciences adenoviral particle packaged cDNA for CYP24A1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CYP24A1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CYP24A1 gene
- Search ViGene Biosciences for CYP24A1
- Santa Cruz Biotechnology (SCBT) Antibodies for CYP24A1
- Search Santa Cruz Biotechnology (SCBT) for CYP24A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CYP24A1
- Horizon Cell Lines for CYP24A1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYP24A1
- VectorBuilder custom plasmid, inducible vectors for CYP24A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP24A1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CYP24A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
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- (32) CGAP SAGE
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- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
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- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
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- (62) NCBI
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- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
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- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
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- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
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- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
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- (104) Addgene
- (105) antibodies-online
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- (107) NONCODE
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- (110) PathCards
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- (155) Gene ORGANizer