Hs00769836_cn

• Gene Symbol: CAD
• Assay Reference Genome Location: Chr.2:27226596 on build GRCh38
• Cytoband: 2p23.3

Target Gene Details

• Entrez Gene ID: 790
• Gene Name: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
• Gene Aliases: CDG1Z
• Location: Chr.2:27217257-27243792 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CAD	NM_001306079.1	13	2076	NP_001293008.1
	NM_004341.4	14	2265	NP_004332.2
	XM_005264555.3	14	2398	XP_005264612.1
	XM_006712101.2	13	2209	XP_006712164.1
	AK226105.1	13	2058
	BC065510.1	14	2265	AAH65510.1
	D78586.1	14	2129	BAA11423.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833603	Chr.2:27059106 - 27263631 on Build GRCh38	Loss	PREB TCF23 EMILIN1 ABHD1 AGBL5 PRR30 CGREF1 CAD KHK ATRAID SLC5A6 OST4 SLC30A3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligase

Gene Ontology Categories:

Process(es)

urea cycle
liver development
'de novo' pyrimidine nucleobase biosynthetic process
UTP biosynthetic process
arginine biosynthetic process
glutamine metabolic process
heart development
female pregnancy
lactation
response to amine
drug metabolic process
peptidyl-threonine phosphorylation
response to caffeine
organ regeneration
response to testosterone
cellular response to drug
'de novo' UMP biosynthetic process
pyrimidine nucleoside biosynthetic process
protein autophosphorylation
response to cortisol
cellular response to epidermal growth factor stimulus

Function(s)

aspartate carbamoyltransferase activity
carbamoyl-phosphate synthase (ammonia) activity
carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity
dihydroorotase activity
protein kinase activity
ATP binding
zinc ion binding
enzyme binding
identical protein binding
aspartate binding