Hs05175675_cn

• Gene Symbol: ANK3
• Assay Reference Genome Location: Chr.10:60045641 on build GRCh38
• Cytoband: 10q21.2

Target Gene Details

• Entrez Gene ID: 288
• Gene Name: ankyrin 3, node of Ranvier (ankyrin G)
• Gene Aliases: ANKYRIN-G, MRT37
• Location: Chr.10:60026298-60733526 on Build GRCh38
• Assay Gene Location: Within Intron 50

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANK3	NM_001149.3			NP_001140.2
	NM_001204403.1			NP_001191332.1
	NM_001204404.1			NP_001191333.1
	NM_001320874.1			NP_001307803.1
	NM_020987.4			NP_066267.2
	XM_005269715.3			XP_005269772.1
	XM_006717796.3			XP_006717859.1
	XM_006717802.3			XP_006717865.1
	XM_011539708.2			XP_011538010.1
	XM_011539709.2			XP_011538011.1
	XM_017016110.1			XP_016871599.1
	XM_017016111.1			XP_016871600.1
	XM_017016112.1			XP_016871601.1
	XM_017016113.1			XP_016871602.1
	XM_017016114.1			XP_016871603.1
	XM_017016115.1			XP_016871604.1
	XM_017016116.1			XP_016871605.1
	XM_017016117.1			XP_016871606.1
	XM_017016118.1			XP_016871607.1
	XM_017016119.1			XP_016871608.1
	XM_017016120.1			XP_016871609.1
	XM_017016121.1			XP_016871610.1
	XM_017016122.1			XP_016871611.1
	XM_017016123.1			XP_016871612.1
	XM_017016124.1			XP_016871613.1
	XM_017016125.1			XP_016871614.1
	XM_017016126.1			XP_016871615.1
	XM_017016127.1			XP_016871616.1
	XM_017016128.1			XP_016871617.1
	XM_017016129.1			XP_016871618.1
	XM_017016130.1			XP_016871619.1
	XM_017016131.1			XP_016871620.1
	XM_017016132.1			XP_016871621.1
	XM_017016133.1			XP_016871622.1
	XM_017016134.1			XP_016871623.1
	XM_017016135.1			XP_016871624.1
	XM_017016136.1			XP_016871625.1
	XM_017016137.1			XP_016871626.1
	XM_017016138.1			XP_016871627.1
	XM_017016139.1			XP_016871628.1
	XM_017016140.1			XP_016871629.1
	XM_017016141.1			XP_016871630.1
	XM_017016142.1			XP_016871631.1
	XM_017016143.1			XP_016871632.1
	XM_017016144.1			XP_016871633.1
	XM_017016145.1			XP_016871634.1
	XM_017016146.1			XP_016871635.1
	XM_017016147.1			XP_016871636.1
	XM_017016148.1			XP_016871637.1
	XM_017016149.1			XP_016871638.1
	XM_017016150.1			XP_016871639.1
	AK092361.1
	AK124230.1
	AK126851.1			BAC86721.1
	AK128784.1
	AK292927.1
	AK295661.1
	AL136710.1			CAB66645.1
	BX537917.1			CAD97900.2
	BX648574.1			CAI56716.1
	U13616.1			AAA64834.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv551176	Chr.10:60042584 - 60054294 on Build GRCh38	Loss	ANK3

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

mitotic cytokinesis
ER to Golgi vesicle-mediated transport
plasma membrane organization
cytoskeletal anchoring at plasma membrane
signal transduction
axonogenesis
axon guidance
neuromuscular junction development
positive regulation of gene expression
positive regulation of cell communication by electrical coupling
positive regulation of sodium ion transport
magnesium ion homeostasis
neuronal action potential
positive regulation of homotypic cell-cell adhesion
Golgi to plasma membrane protein transport
regulation of potassium ion transport
establishment of protein localization
positive regulation of membrane potential
cellular response to magnesium ion
membrane assembly
protein localization to plasma membrane
maintenance of protein location in plasma membrane
protein targeting to plasma membrane
positive regulation of protein targeting to membrane
positive regulation of membrane depolarization during cardiac muscle cell action potential
negative regulation of delayed rectifier potassium channel activity
positive regulation of sodium ion transmembrane transporter activity
positive regulation of cation channel activity

Function(s)

structural constituent of cytoskeleton
protein binding
cytoskeletal protein binding
cytoskeletal adaptor activity
spectrin binding
protein binding, bridging
ion channel binding
cadherin binding