Cad Gene Detail

Summary

• Symbol
  Cad
• Name
  carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
• Synonyms
  2410008J01Rik

• Feature Type
  protein coding gene
• IDs
  MGI:1916969
  NCBI Gene: 69719

Location & Maps

• Sequence Map
  Chr5:31054780-31078479 bp, + strand
• From VEGA annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    23700 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 5, 16.95 cM, cytoband B1
• Mapping Data
  3 experiments

Homology

• Human Ortholog
  CAD, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

• Vertebrate Orthologs
  10

• Human Ortholog
  CAD, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
  Orthology source: HomoloGene, HGNC
• Synonyms
  CDG1Z
• Links
  HGNC:1424

  NCBI Gene ID: 790

  neXtProt AC: NX_P27708

  
  
• Chr Location
  2p22-p21; chr2:27217390-27243792 (+)  GRCh38.p2

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• HomoloGene
  Vertebrate Homology Class 1412
  1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  
• HCOP
  human homology predictions: CAD
• Gene Tree
  Cad
  

Human Diseases

• Diseases
  1 with human CAD associations

				Human Disease	Mouse Models
				Congenital Disorder of Glycosylation, Type Iz; CDG1Z   OMIM: 616457

Click on a disease name to see all genes associated with that disease.

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  26 phenotype references
  

• All Mutations and Alleles
  15
• Chemically induced (other)
  2
• Gene trapped
  7
• Radiation induced
  3
• Spontaneous
  1
• Targeted
  2
• Genomic Mutations
  6 involving Cad
• Incidental Mutations
  Mutagenetix , APF , CvDC

Gene Ontology
(GO)
Classifications

• All GO Annotations
  63
• GO References
  6

• External Resources
  FuncBase

Expression

• Assay Results
  106
• Tissues
  102
• cDNA Data
  231
• Literature Summary
  2

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
• Other Vertebrate Links
  Xenbase cad
  ZFIN cad

Interactions

• Cad interacts with 91 markers (Mir15a, Mir15b, Mir16-1, ...) View All

Sequences &
Gene Models

• All Sequences
  80
• RefSeq
  10
• UniProt
  10
• CCDS
  CCDS19171.1, CCDS80245.1, CCDS80246.1
• UniGene
  305535

• VEGA
  OTTMUSG00000022393 (Evidence)
• Ensembl
  ENSMUSG00000013629 (Evidence)
• NCBI Gene
  69719

Representative Sequences			Length	Strain/Species
genomic	OTTMUSG00000022393	VEGA Gene Model | MGI Sequence Detail	23700	C57BL/6J
transcript	OTTMUST00000053506	VEGA | MGI Sequence Detail	7137	Not Applicable
polypeptide	OTTMUSP00000025444	VEGA | MGI Sequence Detail	2225	Not Applicable

Polymorphisms

• SNPs within 2kb
  133 from dbSNP Build 142

Protein
Information

• UniProt
  10 Sequences
• Protein Ontology
  PR:000004959 CAD protein
• EC
  2.1.3.2, 3.5.2.3, 6.3.5.5
• InterPro Domains
  IPR006680 Amidohydrolase-related
  IPR002082 Aspartate carbamoyltransferase
  IPR006130 Aspartate/ornithine carbamoyltransferase
  IPR006131 Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
  IPR006132 Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
  IPR011761 ATP-grasp fold
  IPR013815 ATP-grasp fold, subdomain 1
  IPR013816 ATP-grasp fold, subdomain 2
  IPR006275 Carbamoyl-phosphate synthase, large subunit
  IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain
  IPR006274 Carbamoyl-phosphate synthase, small subunit
  IPR002474 Carbamoyl-phosphate synthase, small subunit N-terminal domain
  IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
  IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain
  IPR029062 Class I glutamine amidotransferase-like
  IPR002195 Dihydroorotase, conserved site
  IPR017926 Glutamine amidotransferase
  IPR032466 Metal-dependent hydrolase
  IPR011059 Metal-dependent hydrolase, composite domain
  IPR011607 Methylglyoxal synthase-like domain
  IPR016185 Pre-ATP-grasp domain

Molecular
Reagents

• All nucleic 234

  Genomic 1

  cDNA 231

  Primer pair 2

  
  

  Microarray probesets 7

Other
Accession IDs

MGI:2141042

References

• Summaries
  All 34

  Developmental Gene Expression 2

  Diseases 1

  Gene Ontology 6

  Phenotypes 26
• Earliest
  J:84769 Boyd KE, et al., c-Myc target gene specificity is determined by a post-DNAbinding mechanism. Proc Natl Acad Sci U S A. 1998 Nov 10;95(23):13887-92
• Latest
  J:187427 Rainger J, et al., Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012 Sep 15;21(18):3969-83