Hs00003628_cn

• Gene Symbol: ALDOA
• Assay Reference Genome Location: Chr.16:30054871 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 226
• Gene Name: aldolase, fructose-bisphosphate A
• Gene Aliases: ALDA, GSD12, HEL-S-87p
• Location: Chr.16:30053090-30070420 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALDOA	NM_000034.3			NP_000025.1
	XM_011545768.2			XP_011544070.1
	AK098778.1
	AK308495.1
	AK308748.1
	BC004333.1			AAH04333.1
	DB057572.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833187	Chr.16:30051939 - 30173160 on Build GRCh38	Loss	ALDOA TBX6 LOC101928595 FAM57B GDPD3 MAPK3 YPEL3 PPP4C
esv3638380	Chr.16:30042305 - 30056210 on Build GRCh38	Loss	ALDOA FAM57B
nsv1160384	Chr.16:30023148 - 30178660 on Build GRCh38	Duplication	ALDOA TBX6 C16orf92 LOC101928595 FAM57B GDPD3 MAPK3 YPEL3 PPP4C DOC2A

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

aldolase

Gene Ontology Categories:

Process(es)

platelet degranulation
fructose metabolic process
gluconeogenesis
glycolytic process
ATP biosynthetic process
striated muscle contraction
actin filament organization
regulation of cell shape
fructose 1,6-bisphosphate metabolic process
muscle cell cellular homeostasis
protein homotetramerization
canonical glycolysis
cell-cell adhesion

Function(s)

actin binding
fructose-bisphosphate aldolase activity
protein binding
cytoskeletal protein binding
tubulin binding
identical protein binding
poly(A) RNA binding
fructose binding
cadherin binding involved in cell-cell adhesion