Hs01747861_cn

• Gene Symbol: DAB2
• Assay Reference Genome Location: Chr.5:39377111 on build GRCh38
• Cytoband: 5p13.1

Target Gene Details

• Entrez Gene ID: 1601
• Gene Name: DAB2, clathrin adaptor protein
• Gene Aliases: DOC-2, DOC2
• Location: Chr.5:39371674-39425233 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DAB2	NM_001244871.1	11	2144	NP_001231800.1
	NM_001343.3	12	2207	NP_001334.2
	AF188298.1	10	1701	AAF05540.1
	AK130136.1	2	217
	AK297984.1	7	1258
	AK314381.1	12	1955
	BC003064.2	12	1803	AAH03064.1
	U39050.1	11	1775	AAC50824.1
	U53446.1	12	1820	AAA98975.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv597860	Chr.5:38995581 - 40274356 on Build GRCh38	Gain	LOC101926940 DAB2 LINC00603 RICTOR FYB C9
esv3604783	Chr.5:39235417 - 39382661 on Build GRCh38	Gain	DAB2 FYB C9

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

positive regulation of protein phosphorylation
receptor-mediated endocytosis
apoptotic process
integrin-mediated signaling pathway
multicellular organism development
cell proliferation
positive regulation of epithelial to mesenchymal transition
positive regulation of pathway-restricted SMAD protein phosphorylation
protein transport
Wnt signaling pathway
positive regulation of cell migration
positive regulation of transforming growth factor beta receptor signaling pathway
negative regulation of protein binding
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
leading edge cell differentiation
negative regulation of apoptotic process
positive regulation of endocytosis
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of SMAD protein import into nucleus
negative regulation of androgen receptor signaling pathway
negative regulation of canonical Wnt signaling pathway
negative regulation of protein localization to plasma membrane
positive regulation of Wnt signaling pathway, planar cell polarity pathway
positive regulation of clathrin-mediated endocytosis
positive regulation of early endosome to late endosome transport

Function(s)

protein binding
protein C-terminus binding
clathrin adaptor activity
cargo receptor activity
SMAD binding