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ANK2 Gene

protein-coding GIFtS: 66

GC04P114132

ankyrin 2, neuronal
(Previous name: long (electrocardiographic) QT syndrome 4 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: LQT4)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
Ankyrin-B ^³
DKFZp686M09125 ^²
DKFZp686P0948 ^²
FLJ38277 ^²
LQT4 ^², ⁵
OTTHUMP00000163834 ^²
brank-2 ^²

Descriptions
Brain ankyrin ^³
Non-erythroid ankyrin ^³
ankyrin 2 ^²
ankyrin 2, neuronal ^²
ankyrin B ^²
ankyrin, brain ^²
ankyrin, nonerythroid ^²
ankyrin-2, nonerythrocytic ^²
long (electrocardiographic) QT syndrome 4 ^¹

External Ids
HGNC: 493¹
Entrez Gene: 287²
UniProtKB: Q01484³
Ensembl: ENSG00000145362⁷

Search outside databases for aliases for ANK2 gene

Previous GC identifers: GC04P114383 GC04P114251 GC04P114429 GC04P114328

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ANK2:

This gene encodes a member of the ankyrin family of proteins that link the integral membrane

proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such

as cell motility, activation, proliferation, contact and the maintenance of specialized membrane

domains. Most ankyrins are typically composed of three structural domains: an amino-terminal

domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin

binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject

to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca

exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4. Multiple

transcript variants encoding different isoforms have been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484

Function: Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal

proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at

sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the

Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod

photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for

the regulation of neonatal cardiomyocyte contraction rate

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ANK2 gene

Entrez Gene cytogenetic band: 4q25-q27 Ensembl cytogenetic band: 4q26 HGNC cytogenetic band: 4q25-q27

ANK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P114132: (about GC identifiers)

Start:	114,190,281 bp from pter
End:	114,529,333 bp from pter
Size:	339,053 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000004.10 NT_016354.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484 (See protein sequence)

Recommended Name: Ankyrin-2

Size: 3924 amino acids; 430255 Da

Subunit: Interacts with RHBG and SPTBN1

Subcellular location: Cytoplasm, cytoskeleton. Membrane. Cytoplasm, myofibril, sarcomere, M-band

(By similarity). Apical cell membrane (By similarity). Cell membrane. Note=Expressed at the apical

membrane of airway lung epithelial cells (By similarity). Localized to the plasma membrane of the

inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict intracellular

compartment of neonatal cardiomyocytes (By similarity)

Sequence caution: Sequence=AAI25237.1; Type=Frameshift; Positions=1372; Sequence=CAB42644.1;

Type=Miscellaneous discrepancy; Note=CDS lacks C-terminal region which is nevertheless present in

the underlying cDNA;

Secondary accessions: Q01485 Q08AC7 Q08AC8 Q7Z3L5

Alternative splicing: 6 isoforms: Q01484-1 Q01484-2 Q01484-3 Q01484-4 Q01484-5 Q01484-7

Post-translational modifications:

Phosphorylated at multiple sites by different protein kinases and each phosphorylation event

regulates the protein's structure and function (Potential)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001120965.1 NP_001139.3 NP_066187.2

ENSEMBL proteins:

ENSP00000354873 ENSP00000378044 ENSP00000264366 ENSP00000349588 ENSP00000340561

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Ankyrin brain)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005856	cytoskeleton	IEA	--

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Antibodies for ANK2:

	Invitrogen Antibodies for ANK2
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Ankyrin brain), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibody for ANK2

Assays for ANK2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q01484

ProtoNet protein and cluster: Q01484

3 Blocks protein families:

IPB000488 Death domain

IPB000906 ZU5 domain

IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484

Similarity: Contains 24 ANK repeats

Similarity: Contains 1 death domain

Similarity: Contains 1 ZU5 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ANK2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001148

Applied Biosystems Silencer® siRNAs for ANK2

Sigma-Aldrich siRNA and siRNA Panels for ANK2

Sigma-Aldrich shRNA for ANK2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001127493
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001127493
untagged cDNA clones in CMV expression vector (see all 3): NM_001127493

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001148

UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484

Function: Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal

proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at

sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the

Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod

photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for

the regulation of neonatal cardiomyocyte contraction rate

Genatlas biochemistry entry for ANK2:

ankyrin 2,non erythrocytic,intermediate filament associated protein (IFAP,type III)

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ank2):

behavior/neurological

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15262991 15611082

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for ANK2

5/20 Interacting proteins for ANK2 (ENSP00000349588³ Q01484^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 20 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DCTN4	Q9UJW0¹	STRING (score=.859) EBI-941975, EBI-2134033
OBSCN	Q5VST9²	STRING (score=.816) MINT-50081
GRB2	P62993¹	EBI-941975, EBI-401755
NCK1	P16333¹	EBI-941975, EBI-389883
SCN5A	ENSP00000328968³	STRING (score=.956)

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1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ANK2
3 Novoseek chemical compound relationships for ANK2 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
inositol 1,4,5 trisphosphate	67.10	13	15262991 (2), 16292983 (2), 14722080 (1), 17074766 (1) (see all 9)
ryanodine	55.91	3	15262991 (1), 16292983 (1)
calcium	18.44	4	19098452 (3), 17413664 (1)

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1 PharmGKB drug compound relationship for ANK2 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
antiarrhythmics	FA GN	12571597

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ANK2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001148

Sigma-Aldrich siRNA and siRNA Panels for ANK2

Sigma-Aldrich shRNA for ANK2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001127493 NM_001148 NM_020977

REFSEQ mRNAs for ANK2 gene (3 alternative transcripts):

NM_001127493.1 NM_001148.4 NM_020977.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001127493 NM_001148 NM_020977

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001127493
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001127493
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001127493

Additional cDNA sequence:

AF131823.1 AK021894.1 AK095596.1 AK128049.1 AK294720.1 AK299767.1 AK299815.1 AK299893.1

AK307601.1 BC017986.1 BC047498.1 BC125235.1 BC125236.1 BX537758.1 BX538132.1 BX538239.1

CR619899.1 DQ925692.1 DQ925693.1 X56957.1 X56958.2 Z26634.2

24/25 DOTS entries (see all 25 ):

DT.447644 DT.100777845 DT.91747668 DT.91739745 DT.100777840 DT.99971372 DT.100777841 DT.91787899

DT.121257819 DT.40213674 DT.95213758 DT.40123217 DT.97762373 DT.100642065 DT.121257779 DT.121257784

DT.121257902 DT.97768810 DT.100777842 DT.121257785 DT.121257885 DT.75119078 DT.75176435 DT.75193347

24/227 AceView cDNA sequences (see all 227 ):

BM696824 T33415 AW129277 T33416 AI093196 T06245 AU132049 BE349232

BM717916 AI144158 BU735405 AL043865 AI292203 F03344 BI757580 AI493092

X56958 CR619899 AL045249 AI804466 AA285185 BQ006948 N78488 AL707820

highest scoring ESTs for ANK2:

X56958 AA019015 AA019018 AA019771 AA054200 AA285185 AA305051 AA334593 AA350438 AI123882

Unigene Cluster for ANK2:

Ankyrin 2, neuronal

Hs.620557 [show with all ESTs]

Unigene Representative Sequence: NM_001148

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ANK2 (see all 8 )

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^
SP1:
SP2:
SP3:					-		-
SP4:
SP5:

ExUns:	25	^	26	^	27a	·	27b	^	28	^	29a	·	29b	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40a	·	40b	^	41	^	42a	·	42b	·	42c
SP1:					-
SP2:																															-								-
SP3:
SP4:																																							-
SP5:

About this scheme

ECgene alternative splicing isoforms for ANK2

5 Ensembl transcripts including schematic representations:

ENST00000361149 ENST00000394537 ENST00000264366 ENST00000357077 ENST00000343056

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ANK2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ANK2

¹ / ² / ³

9 probe-sets matching ANK2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39850_at²^{, 3}	U95-A	1	1.00	1.00	0.95	1.14	X56958	1.00	1.00	1.00	1
87529_at²^{, 3}	U95-E	1	1.00	1.00	0.02	0.68	AI492338	0.80	1.00	0.91	1
87530_at²^{, 3}	U95-E	1	1.00	1.00	0.52	0.95	AI758236	0.60	1.00	0.82	1
202920_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BF726212	0.60	1.00	0.82	1
202921_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001148	0.60	1.00	0.82	1
216195_at*²^{, 3}	U133-A	1	1.00	1.00	--	--	AF131823	0.40	1.00	0.76	1
202920_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202921_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216195_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ANK2 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TATTAGTTAA

SOURCE GeneReport for Unigene cluster: Hs.620557
Expression variation in blood from EXPOLDB for ANK2
UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484
Tissue specificity: Present in plasma membrane of neurons as well as glial cells throughout the
brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner
segments of rod photoreceptors in retina

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ANK2 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	ANK2¹	--	ankyrin 2, neuronal	99.5(n) 99.28(a)	461444 XM_517403.2 XP_517403.2
mouse (Mus musculus)	Ank2⁵	3 (62.50 cM)	ankyrin 2, brain	--	BP753425
chicken (Gallus gallus)	ANK2¹	--	ankyrin 2, neuronal	62.86(n) 61.87(a)	422689 XM_420641.2 XP_420641.2
zebrafish (Danio rerio)	BI845253.1²	--	--	77.08(n)	BI845253.1
fruit fly (Drosophila melanogaster)	Ank2³	66A10	cytoskeletal anchoring cytoskeletal protein binding	60(a) (best of 4)	--

About this table Species with no ortholog for ANK2

ENSEMBL Gene Tree for ANK2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ANK2 gene

ANK3² ANK1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1938 NCBI SNPs in ANK2 are shown (see all 1938 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 861)

AB	SNP ID	Valid	Chr 4 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs7663732^1,2	A,C,F,H	114189394(+)	`TATTGT/CAACTC`	2	--	ng5¹		1	EU	112
	rs6826949^1,2	A,C,F,H	114524633(+)	`GGGGAC/TTTGCA`	2	--	ng3¹		4	EU EA WA	418
	rs313936^1,2	A,C,F,H	114188342(-)	`GCTTCA/GGTGGT`	2	--	ng5¹		7	NA EA EU WA	664
	rs3822280^1,2	A,C,F,H	114188436(+)	`GACTCC/TAGATG`	2	--	ng5¹		1	WA	112
--	rs3822281^1,2	C,F,H	114188444(+)	`ATGATG/AACGTG`	2	--	ng5¹ tfbs³		2	EU WA	212
--	rs313935^1,2	A,C,F	114188508(-)	`CACCTT/ATTTCC`	2	--	ng5¹ tfbs³		3	NA EA	252
	rs3733616^1,2	C,F,H	114496490(+)	`TCAGCG/ACTGTG`	2	T/A	mis¹ int¹		9	EA EU WA	2328
	rs29372^1,2	C,F,H	114423458(-)	`GGATAT/CTGGCT`	3	S/N	mis¹ ese³		9	MN EU EA WA	1020
	rs3733617^1,2	C,F,H	114497726(+)	`AATCTC/TCACAA`	2	P/S	mis¹ int¹ ese³		17	EA NA EU WA	2966
	rs11550170^1,2	C,F,H	114522984(+)	`GGGGTA/GTTCAG`	3	--	ut3¹ ese³		4	EU EA WA	398

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HapMap Linkage Disequilibrium images for ANK2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 106410 disorders: 600919 600919

UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484

Defects in ANK2 are the cause of long QT syndrome type 4 (LQT4) [MIM:600919]; also known

as sick sinus syndrome with bradycardia. Long QT syndromes are heart disorders characterized by a

prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and

sudden death in response to exercise or emotional stress. LQT4 displays many atypical features

compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T

waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical

LQT syndromes and prolonged QT interval on EKG is not a consistent feature

7 Novoseek disease relationships for ANK2 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
ventricular tachycardia, catecholaminergic polymorphic	71.78	1	15178757 (1)
long qt syndrome	68.14	6	15178757 (2), 16253912 (2), 18052691 (1)
death sudden cardiac	57.03	4	15124116 (1), 16650839 (1), 16800854 (1)
death sudden	56.35	1	15178757 (1)
sinus bradycardia	54.66	1	15178757 (1)
arrhythmia	48.31	17	17242276 (3), 15178757 (3), 16292983 (1), 16800854 (1) (see all 8)
tachycardia ventricular	30.10	2	16650839 (1)

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1 PharmGKB disease relationship for ANK2 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Long QT Syndrome	FA GN	12571597

About this table

Human Gene Mutation Database: ANK2
Genetic Association Database: ANK2
Human Genome Epidemiology Navigator: ANK2 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/79 PubMed articles for ANK2 gene (see all 79 ):

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. (PubMed id 12571597)^{2, 3, 4, 7} Mohler P.J....Bennett V. (2003)
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. (PubMed id 15178757)^{1, 3, 4} Mohler P.J.... Bennett V. (2004)
Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes. (PubMed id 15262991)^{1, 3, 4} Mohler P.J....Bennett V. (2004)
Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. (PubMed id 1830053)^{1, 3, 4} Otto E.... Bennett V. (1991)
Isolation and chromosomal localization of a novel nonerythroid ankyrin gene. (PubMed id 1833308)^{1, 3, 4} Tse W.T.... Forget B.G. (1991)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
The ammonium transporter RhBG: requirement of a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cells. (PubMed id 15611082)^{3, 4} Lopez C.... Colin Y. (2005)
Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. (PubMed id 15851119)^{3, 6} Khositseth A....Ackerman M.J. (2004)
Mapping of a gene for long QT syndrome to chromosome 4q25-27. (PubMed id 7485162)^{2, 3} Schott J.J....Moisan J.P. (1995)
440-kD ankyrinB: structure of the major developmentally regulated domain and selective localization in unmyelinated axons. (PubMed id 8253844)^{3, 4} Chan W.... Bennett V. (1993)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 287	HGNC: 493	AceView: ANK2	Ensembl:ENSG00000145362	euGenes: HUgn287
ECgene: ANK2	H-InvDB: ANK2

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for ANK2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=ANK2
Wikipedia	http://en.wikipedia.org/wiki/Ankyrin

Licensable Technologies for ANK2
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ANK2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ANK2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ANK2		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ANK2		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Search for Recombinant Proteins
	Search for Antibodies
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Ankyrin brain)
	Antibodies (Ankyrin brain)

Search OriGene for ANK2

Search Tocris compounds for ANK2

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ANK2

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ANK2 Gene at Home site.
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ANK2 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for ANK2

Summaries
for ANK2

Genomic Location
for ANK2

Proteins
for ANK2

Protein Domains/
Families
for ANK2

Gene Function
for ANK2

Pathways & Interactions
for ANK2

Drugs & Compounds
for ANK2

Transcripts
for ANK2

Expression
for ANK2

Orthologs
for ANK2

Paralogs
for ANK2

SNPs/Variants
for ANK2

Disorders & Mutations
for ANK2

Medical News
for ANK2

Publications
for ANK2

Search for ANK2

Genome Databases showing ANK2

Other Databases showing ANK2

Specialized Databases showing ANK2

Licensable Technologies
for ANK2

Services
for ANK2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ANK2 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor ANK2

Summariesfor ANK2

Genomic Locationfor ANK2

Proteinsfor ANK2

Protein Domains/Familiesfor ANK2

Gene Functionfor ANK2

Pathways & Interactionsfor ANK2

Drugs & Compoundsfor ANK2

Transcriptsfor ANK2

Expression for ANK2

Orthologsfor ANK2

Paralogsfor ANK2

SNPs/Variantsfor ANK2

Disorders & Mutationsfor ANK2

Medical Newsfor ANK2

Publicationsfor ANK2

Search for ANK2

Genome Databases showing ANK2

Other Databases showing ANK2

Specialized Databases showing ANK2

Licensable Technologiesfor ANK2

Servicesfor ANK2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ANK2

Summaries
for ANK2

Genomic Location
for ANK2

Proteins
for ANK2

Protein Domains/
Families
for ANK2

Gene Function
for ANK2

Pathways & Interactions
for ANK2

Drugs & Compounds
for ANK2

Transcripts
for ANK2

Expression
for ANK2

Orthologs
for ANK2

Paralogs
for ANK2

SNPs/Variants
for ANK2

Disorders & Mutations
for ANK2

Medical News
for ANK2

Publications
for ANK2

Licensable Technologies
for ANK2

Services
for ANK2