Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

ANK3

contributors: shn/npt - updated : 20-10-2016

HGNC name	ankyrin 3, node of Ranvier (ankyrin G)
HGNC id	494

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Nervous brain       highly Reproductive female system breast mammary gland   highly   female system placenta     highly Visual eye retina     specific

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Homo sapiens Nervous neuron Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal band 3 binding domain made of 24 tandem subunits of 33 amino-acids (the SW16/Ank repeat)
	a spectrin binding domain a
	a regulatory domain with alternatively spliced isoforms
	a ZU5 domain
	a death domain
	Obscurin/Titin-Binding-related Domain (OTBD), a muscle-specific insert of the C-terminal domain which is highly conserved among ankyrin genes, that confer ankyrins with a gain of function in vertebrates, bringing further consolidation and resilience of the linkage between sarcomeres and sarcolemma

HOMOLOGY

interspecies	ortholog to Ank3, Rattus norvegicus
	ortholog to Ank3, Mus musculus
	homolog to LOC569152, Danio rerio

Homologene

FAMILY

ankyrins family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	plays a role in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains
	axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems
	ankyrin-G is required for transport of CNG channels to the plasma membrane of rod outer segments and is required for rod outer segments morphogenesis
	ankyrin-G plays role(s) in either assembly and/or maintenance of rod outer segments
	restricts ion channel diffusion at the axonal initial segment before the establishment of the diffusion barrier
	ANK3-dependent subventricular zone (SVZ) niche assembly is required for the continued production of new neurons
	involved in neuronal development and signaling
	plays a role in intellectual functioning
	role for ANK3 in modulating the biophysical properties of KCNA1, implicated in renal magnesium handling
	functions as an adaptor to link Nav channels to KIF5B during axonal transport before anchoring them to the axon initial segment (AIS) and nodes of Ranvier

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

development , nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with SCN2A1
	binds to the cytoplasmic domain of CDH1 at a conserved site distinct from that of CTNNB
	binds to N-cadherin and probably other type 1 classical cadherins (with cadherin partners thus could direct formation of a variety of specialized membrane domains at sites of cell-cell contact, ranging from synapses in the nervous system to inter-calated discs in cardiomyocytes)
	SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
	Cyclic nucleotide–gated (CNG) channels
	SPTBN4 is recruited to axon initial segments and nodes of Ranvier by ANK3
	ANK3 expression is controlled by FOXJ1, a transcriptional regulator of multicilia formation
	CD44 of control chondrocytes was found to interact and co-immunoprecipitate with both the 65- and 130-kDa isoforms of ANK3
	ANK3 was identified as a binding partner of KCNA1 and was enriched in isolated distal convoluted tubules as compared to whole kidney
	KIF5B directly binds to ankyrin-G (ANK3) to transport Nav channels into axons
	constitutive binding of SCN10A with ANK3 could contribute to the pathological aspects of illnesses where SCN10A is ectopically expressed in CNS neurons
	CK2-regulated IQJC-SCHIP-1 association with ANKG contributes to axon initial segment (AIS) maintenance
	PRICKLE2 regulates ANK3 distribution by controlling the proper localization of IGSF9B

cell & other

intermediate filament associated protein (IFAP, type III)

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in a consanguineous family with moderate intellectual disability (ID), an ADHD-like phenotype and behavioral problems

Susceptibility

to bipolar disorder (BD) to late-onset Alzheimer's disease to Autism spectrum disorders (ASDs)

Variant & Polymorphism SNP	increasing the risk of late-onset Alzheimer's disease
	susceptibility gene specific to BD
	association between ANK3 mutations and ASD susceptibility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS