ANK2 ankyrin 2, neuronal [Homo sapiens] - Gene

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Summary

Official Symbol: ANK2provided by HGNC
Official Full Name: ankyrin 2, neuronalprovided by HGNC
Primary source: HGNC:493
See related: Ensembl:ENSG00000145362; HPRD:00110; MIM:106410; Vega:OTTHUMG00000132912
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LQT4; ANK-2; brank-2
Summary: 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 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]

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Genomic context

Location :: 4q25-q27

Sequence :: Chromosome: 4; NC_000004.11 (113739239..114304896)

See ANK2 in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Reduced ankyrin-B expression or mutations in ankyrin 2 are associated with atrial fibrillation.
Title: Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation.
Data show that DAnk2-binding is critical for beta spectrin function in vivo.
Title: Transgene rescue identifies an essential function for Drosophila beta spectrin in the nervous system and a selective requirement for ankyrin-2-binding activity.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The common genetic variation in the ANK2 gene is modified the physiological variability of the QT interval in the general population.
Title: Common genetic variants in ANK2 modulate QT interval: results from the KORA study.
ANK2 mutations were not found to directly cause long QT syndrome.
Title: Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome.
Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease
Title: Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease.
ANK2 is subject to alternative splicing that gives rise to unique polypeptides with diverse roles in cardiac function.
Title: Obscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-line.
dysfunction in AnkB-based trafficking pathways causes abnormal sinoatrial node (SAN) electrical activity and sinus node dysfunction.
Title: Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.

Submit: New GeneRIF Correction See all (25)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Cardiac arrhythmia, ankyrin-B-related

MIM: 600919

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_066187.2	NP_000416.1	L1CAM	BIND	PubMed	L1CAM interacts with Ankyrin. This interaction was modelled on a demonstrated interaction between human L1CAM and drosophila ankyrin.
Q01484	P25685	DNAJB1	HPRD	PubMed
Q01484	P32004	L1CAM	HPRD	PubMed
Q01484	Q92823	NRCAM	HPRD	PubMed
Q01484	Q5VST9	OBSCN	HPRD	PubMed
Q01484	Q99720	SIGMAR1	HPRD	PubMed
Q01484	Q01082	SPTBN1	HPRD	PubMed
BioGRID:106784	BioGRID:108352	EPB42	BioGRID	PubMed	Reconstituted Complex
BioGRID:106784	BioGRID:123527	NDEL1	BioGRID	PubMed	Two-hybrid
BioGRID:106784	BioGRID:115569	SIGMAR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106784	BioGRID:116682	TNIK	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
axon guidance	TAS Traceable Author Statement more info
signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
M band	IEA Inferred from Electronic Annotation more info
apical plasma membrane	IEA Inferred from Electronic Annotation more info
basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: ankyrin-2

Names: ankyrin-2; ankyrin B; ankyrin, brain; non-erythroid ankyrin; ankyrin-2, nonerythrocytic

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009006.2 RefSeqGene

Range

5001..570658

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127493.1 → NP_001120965.1 ankyrin-2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter isoform (3) that has a distinct N-terminus.

Source sequence(s)

AC004057, AC017007, AC093900

Consensus CDS

CCDS54796.1

UniProtKB/Swiss-Prot

Q01484

Related

ENSP00000421067, OTTHUMP00000220392, ENST00000506722, OTTHUMT00000365336

Conserved Domains (6) summary

cd00204
Location:206 – 331
Blast Score: 347

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08804
Location:1473 – 1556
Blast Score: 443

Death_ank2; Death domain of Ankyrin-2

cl02517
Location:957 – 1094
Blast Score: 377

ZU5; ZU5 domain

pfam12796
Location:216 – 307
Blast Score: 258

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:17 – 50
Blast Score: 86

Ank_5; Ankyrin repeats (many copies)

cl02529
Location:508 – 533
Blast Score: 96

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
NM_001148.4 → NP_001139.3 ankyrin-2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC004057, AC093879, AC093900

Consensus CDS

CCDS3702.1

UniProtKB/Swiss-Prot

Q01484

Related

ENSP00000349588, OTTHUMP00000163833, ENST00000357077, OTTHUMT00000256422

Conserved Domains (6) summary

cd00204
Location:227 – 352
Blast Score: 377

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08804
Location:3567 – 3650
Blast Score: 436

Death_ank2; Death domain of Ankyrin-2

cl02517
Location:966 – 1103
Blast Score: 374

ZU5; ZU5 domain

pfam12737
Location:1764 – 1936
Blast Score: 119

Mating_C; C-terminal domain of homeodomain 1

pfam12796
Location:237 – 328
Blast Score: 277

Ank_2; Ankyrin repeats (3 copies)

cl02529
Location:529 – 554
Blast Score: 103

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
NM_020977.3 → NP_066187.2 ankyrin-2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1. Isoform 2 is the major form of ankyrin in adult brain.

Source sequence(s)

AC004057, AC093879, AC093900

Consensus CDS

CCDS43261.1

UniProtKB/Swiss-Prot

Q01484

Related

ENSP00000378044, OTTHUMP00000163834, ENST00000394537, OTTHUMT00000256423

Conserved Domains (6) summary

cd00204
Location:227 – 352
Blast Score: 348

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08804
Location:1482 – 1565
Blast Score: 443

Death_ank2; Death domain of Ankyrin-2

cl02517
Location:966 – 1103
Blast Score: 379

ZU5; ZU5 domain

pfam12796
Location:237 – 328
Blast Score: 258

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:38 – 71
Blast Score: 86

Ank_5; Ankyrin repeats (many copies)

cl02529
Location:529 – 554
Blast Score: 96

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

113739239..114304896

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

109467190..110033212

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC004057.1 (7361..135784)	None
genomic	AC017007.9 (87278..173709)	None
genomic	AC093617.2	None
genomic	AC093879.3 (126237..214869)	None
genomic	AC093900.3 (3048..75533)	None
genomic	AC108042.4	None
genomic	CH471057.1	EAX06287.1
		EAX06288.1
		EAX06289.1
		EAX06290.1
		EAX06291.1
		EAX06292.1
genomic	M37123.1	AAA62828.1
mRNA	AF131823.1	None
mRNA	AK021894.1	None
mRNA	AK095596.1	None
mRNA	AK128049.1	None
mRNA	AK294720.1	BAH11860.1
mRNA	AK299767.1	BAH13122.1
mRNA	AK299815.1	BAH13137.1
mRNA	AK299893.1	BAH13164.1
mRNA	AK307601.1	None
mRNA	AL706912.1	None
mRNA	BC017986.1	None
mRNA	BC047498.1	None
mRNA	BC125235.1	AAI25236.1
mRNA	BC125236.1	AAI25237.1
mRNA	BQ716903.1	None
mRNA	BQ890406.1	None
mRNA	BX537758.1	CAD97827.1
mRNA	BX538132.1	CAD98033.1
mRNA	BX538239.1	CAD98077.1
mRNA	CN259048.1	None
mRNA	DQ925692.1	ABL59919.1
mRNA	DQ925693.1	ABL59920.1
mRNA	X56957.1	CAA40278.1
mRNA	X56958.2	CAA40279.2
mRNA	Z26634.2	CAB42644.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
Q01484.3	GenPept	UniProtKB/Swiss-Prot:Q01484
Q7Z307	GenPept	UniProtKB/TrEMBL:Q7Z307
Q7Z344	GenPept	UniProtKB/TrEMBL:Q7Z344