Hs06020249_cn

• Gene Symbol: COL4A3BP
• Assay Reference Genome Location: Chr.5:75374946 on build GRCh38
• Cytoband: 5q13.3

Target Gene Details

• Entrez Gene ID: 10087
• Gene Name: collagen type IV alpha 3 binding protein
• Gene Aliases: CERT, CERTL, GPBP, MRD34, STARD11
• Location: Chr.5:75368486-75511981 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COL4A3BP	NM_001130105.1			NP_001123577.1
	NM_005713.2			NP_005704.1
	NM_031361.2			NP_112729.1
	XM_006714513.2			XP_006714576.1
	XM_011543090.2			XP_011541392.1
	XM_011543091.2			XP_011541393.1
	XM_017008919.1			XP_016864408.1
	AK000604.1
	AK091851.1			BAC03762.1
	AK096854.1
	AK292087.1
	BC000102.2			AAH00102.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3575856	Chr.5:75260838 - 75400813 on Build GRCh38	Gain	COL4A3BP HMGCR
nsv980685	Chr.5:75374056 - 75374913 on Build GRCh38	Duplication	COL4A3BP

More Information

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

Panther Classification:

Molecular Function -

transfer/carrier protein

Gene Ontology Categories:

Process(es)

cell morphogenesis
in utero embryonic development
heart morphogenesis
protein phosphorylation
ceramide metabolic process
muscle contraction
immune response
endoplasmic reticulum organization
signal transduction
cell proliferation
sphingolipid biosynthetic process
response to endoplasmic reticulum stress
ER to Golgi ceramide transport
lipid homeostasis
mitochondrion morphogenesis

Function(s)

protein kinase activity
protein binding
ceramide transporter activity
phosphatidylinositol-4-phosphate binding
ceramide binding