Hs01734595_cn

• Gene Symbol: ANGPTL2
• Assay Reference Genome Location: Chr.9:127108038 on build GRCh38
• Cytoband: 9q33.3

Target Gene Details

• Entrez Gene ID: 23452
• Gene Name: angiopoietin like 2
• Gene Aliases: ARP2, HARP
• Location: Chr.9:127087349-127122803 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANGPTL2	NM_012098.2	2	1194	NP_036230.1
	XM_006717030.3	2	1232	XP_006717093.1
	AF125175.1	1	715	AAD55357.1
	AK074726.1			BAC11164.1
	AK075026.1			BAC11358.1
	AK307175.1
	AK312876.1	2	1113
	AY358274.1	2	1213	AAQ88641.1
	BC012368.1	2	1067	AAH12368.1

Target Gene Details

• Entrez Gene ID: 9649
• Gene Name: Ral GEF with PH domain and SH3 binding motif 1
• Gene Aliases: RALGEF2, RALGPS1A
• Location: Chr.9:126914774-127223166 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RALGPS1	NM_001190728.1			NP_001177657.1
	NM_001190729.1			NP_001177658.1
	NM_001190730.1			NP_001177659.1
	NM_001322320.1			NP_001309249.1
	NM_001322321.1			NP_001309250.1
	NM_001322322.1			NP_001309251.1
	NM_001322323.1			NP_001309252.1
	NM_001322324.1			NP_001309253.1
	NM_001322325.1			NP_001309254.1
	NM_014636.2			NP_055451.1
	XM_006717328.3			XP_006717391.2
	XM_011519225.1			XP_011517527.1
	XM_011519226.1			XP_011517528.1
	XM_011519227.1			XP_011517529.1
	XM_011519228.1			XP_011517530.1
	XM_011519229.1			XP_011517531.1
	XM_011519230.2			XP_011517532.1
	XM_011519231.1			XP_011517533.1
	XM_011519232.1			XP_011517534.1
	XM_011519233.1			XP_011517535.1
	XM_011519234.2			XP_011517536.1
	XM_011519235.2			XP_011517537.1
	XM_011519236.1			XP_011517538.1
	XM_011519238.2			XP_011517540.1
	XM_017015342.1			XP_016870831.1
	XM_017015343.1			XP_016870832.1
	XM_017015344.1			XP_016870833.1
	XM_017015345.1			XP_016870834.1
	XM_017015346.1			XP_016870835.1
	XM_017015347.1			XP_016870836.1
	XM_017015348.1			XP_016870837.1
	XM_017015349.1			XP_016870838.1
	XM_017015350.1			XP_016870839.1
	AB002349.1
	AF221098.1			AAF65253.1
	AK299149.1
	BC032372.1			AAH32372.1
	BC033708.1			AAH33708.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv615342	Chr.9:127091920 - 127178137 on Build GRCh38	Loss	ANGPTL2 RALGPS1

More Information

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

Panther Classification:

Molecular Function -

intercellular signal molecule, guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

multicellular organism development
small GTPase mediated signal transduction
regulation of Ral protein signal transduction
intracellular signal transduction
positive regulation of GTPase activity

Function(s)

receptor binding
guanyl-nucleotide exchange factor activity
Ral guanyl-nucleotide exchange factor activity