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, 1 and Idiopathic Infantile Hypercalcemia. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (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.
Additional gene information for CYP24A1 Gene
- Monarch Initiative
- Search for CYP24A1 at DataMed
- Search for CYP24A1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP24A1 Gene
Genomics for CYP24A1 Gene
GeneHancer (GH) Regulatory Elements for CYP24A1 Gene
Promoters and enhancers for CYP24A1 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH20I054172 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE dbSUPER | 560.3 | +0.1 | 98 | 2.9 | INSM2 KLF17 ZNF76 SIN3A ZNF2 ZNF48 RARA ZNF335 GLIS2 SCRT2 | CYP24A1 BCAS1 | |
| GH20I054194 | Enhancer | 1.2 | Ensembl ENCODE | 18.1 | -21.6 | -21617 | 2 | FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 TCF12 SLC30A9 | CYP24A1 PFDN4 LOC105372675 | |
| GH20I054131 | Enhancer | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 11.3 | +40.5 | 40456 | 4.1 | FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 FOS | CYP24A1 PFDN4 BCAS1 | |
| GH20I054121 | Enhancer | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 11.1 | +50.5 | 50482 | 5 | FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 TCF12 FOS | CYP24A1 BCAS1 | |
| GH20I054109 | Enhancer | 1.2 | FANTOM5 ENCODE dbSUPER | 14.7 | +63.8 | 63785 | 1.4 | ELF3 SOX13 FOXA2 SAP130 EBF1 RARA LCORL GATA3 GATAD1 ATF7 | CYP24A1 PFDN4 BCAS1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CYP24A1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CYP24A1 Gene
Genomic Locations for CYP24A1 Gene
- chr20:54,153,449-54,173,985
- (GRCh38/hg38)
- Size:
- 20,537 bases
- Orientation:
- Minus strand
- chr20:52,769,988-52,790,516
- (GRCh37/hg19)
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
No Post-translational modifications
Other Protein References for CYP24A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CYP24A1
- Novus Biologicals Antibodies for CYP24A1
-
Abcam antibodies for CYP24A1
-
Cloud-Clone Corp. Antibodies for CYP24A1
- Invitrogen Antibodies for CYP24A1
- 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
- Search GeneTex for Proteins for CYP24A1
-
Abcam proteins for CYP24A1
Assay Products
-
Cloud-Clone Corp. Assay Kits for CYP24A1
No data available for DME Specific Peptides for CYP24A1 Gene
Domains & Families for CYP24A1 Gene
Gene Families for CYP24A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
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
Phenotypes From GWAS Catalog 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
- genomics-online: gRNA clones - Search results for 95 available CYP24A1 gene related products
- Overview of 95 available CYP24A1 gene related products
- Applied Biological Materials CRISPR for CYP24A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- genomics-online: shRNA clones - Search results for 95 available CYP24A1 gene related products
- Overview of 95 available CYP24A1 gene related products
-
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
- Applied Biological Materials Clones for CYP24A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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 |
| extracellular | 1 |
- Mitochondria (4)
- Nucleoplasm (2)
- Plasma membrane (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | -- |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0005886 | plasma membrane | IDA | -- |
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 | 0 | |
| Paricalcitol | Approved, Investigational | Pharma | Enzyme, substrate | Analog of VD2 active form | 0 | |
| Calcitriol | Approved | Nutra | Enzyme, substrate, inducer | TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist | 223 | |
| Calcidiol | Approved | Nutra | Enzyme, substrate | 0 | ||
| Ergocalciferol | Approved | Nutra | Enzyme, substrate | 1362 |
| 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
- genomics-online: gRNA clones - Search results for 95 available CYP24A1 gene related products
- Overview of 95 available CYP24A1 gene related products
- Applied Biological Materials CRISPR for CYP24A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- genomics-online: shRNA clones - Search results for 95 available CYP24A1 gene related products
- Overview of 95 available CYP24A1 gene related products
-
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
- Applied Biological Materials Clones for CYP24A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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
- genomics-online: primer clones - Search results for 95 available CYP24A1 gene related products
- Overview of 95 available CYP24A1 gene related products
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 34 |
|
OneToOne | |
| LOC746729 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | CYP24A1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CYP24A1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cyp24a1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cyp24a1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CYP24A1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP24A1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYP24A1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100496967 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp24a1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008018 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp12b2 33 |
|
||
| sad 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | cyp-44A1 33 |
|
- 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
Paralogs for CYP24A1 Gene
(5) SIMAP similar genes for CYP24A1 Gene using alignment to 1 proteins:
Variants for CYP24A1 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1024289506 | uncertain-significance, Infantile hypercalcemia | 54,154,397(-) | T/C | 3_prime_UTR_variant, intron_variant | |
| rs10623012 | benign, Infantile hypercalcemia | 54,153,516(-) | /AT | 3_prime_UTR_variant, intron_variant | |
| rs114368325 | pathogenic, Idiopathic hypercalcemia of infancy, Muscle cramps, Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] | 54,158,136(-) | G/A/C | coding_sequence_variant, missense_variant | |
| rs114476330 | uncertain-significance, Infantile hypercalcemia | 54,172,999(-) | C/A/T | coding_sequence_variant, missense_variant | |
| rs114579367 | uncertain-significance, Infantile hypercalcemia | 54,169,628(-) | C/G | coding_sequence_variant, missense_variant |
| 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)
Additional Variant Information for CYP24A1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP24A1 Gene
Disorders for CYP24A1 Gene
(9) MalaCards diseases for CYP24A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypercalcemia, infantile, 1 |
|
|
| idiopathic infantile hypercalcemia |
|
|
| brody myopathy |
|
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| williams-beuren syndrome |
|
|
| nephrocalcinosis |
|
|
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.
Additional Disease Information for CYP24A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Prostate, Lung, Colorectal and Ovarian Trial Project Team (Carcinogenesis 2009) 3 22 44 58
- Vitamin D pathway gene variants and prostate cancer risk. (PMID: 19454612) Holt SK … Stanford JL (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 44 58
- Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. (PMID: 17606874) Bailey R … Todd JA (Diabetes 2007) 3 22 44 58
- 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 (Biochimica et biophysica acta 2006) 3 22 25 58
- Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. (PMID: 16600026) Wjst M … André E (Respiratory research 2006) 3 22 44 58
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Sources for CYP24A1 Gene
- (1) GeneCards
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