• Gene id: 287

Gene Summary

• Gene Symbol: ANK2   Gene   UCSC   Ensembl
• Aliases: ANK-2, CFAP87, FAP87, LQT4, brank-2
• Gene name: ankyrin 2
• Alternate names: ankyrin-2, ankyrin 2, neuronal, ankyrin B, ankyrin, brain, ankyrin-2, nonerythrocytic, non-erythroid ankyrin,
• Gene location: 4q25-q26 (112706017: 113383739)     Exons: 24     NC_000004.12
• Gene summary(Entrez): 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 ma
• OMIM: 106410

SNPs

rs757230

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102132A>G
NC_000019.9   g.1102131A>G
NG_050621.1   g.3207A>G|SEQ=[A/G]|GENE=GPX4

rs757229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102115G>A
NC_000019.10   g.1102115G>C
NC_000019.10   g.1102115G>T
NC_000019.9   g.1102114G>A
NC_000019.9   g.1102114G>C
NC_000019.9   g.1102114G>T
NG_050621.1   g.3190G>A
NG_050621.1   g.3190G>C
NG_050621.1   g.3190G>T|SEQ=[G/A/C/T]|GENE=GPX4

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs4588110

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102140A>C
NC_000019.10   g.1102140A>G
NC_000019.10   g.1102140A>T
NC_000019.9   g.1102139A>C
NC_000019.9   g.1102139A>G
NC_000019.9   g.1102139A>T
NG_050621.1   g.3215A>C
NG_050621.1   g.3215A>G
NG_050621.1   g.3215A>T|SEQ=[A/C/G/T]|GENE=GPX4

rs3746165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102212A>G
NC_000019.10   g.1102212A>T
NC_000019.9   g.1102211A>G
NC_000019.9   g.1102211A>T
NG_050621.1   g.3287A>G
NG_050621.1   g.3287A>T|SEQ=[A/G/T]|GENE=GPX4

rs3746166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102176C>T
NC_000019.9   g.1102175C>T
NG_050621.1   g.3251C>T|SEQ=[C/T]|GENE=GPX4

Protein Summary

• Protein general information: Q01484  
  • Name: Ankyrin 2 (ANK 2) (Ankyrin B) (Brain ankyrin) (Non erythroid ankyrin)
  • Length: 3957  
  • Mass: 433715
  • 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. {ECO
• Sequence:

  MMNEDAAQKSDSGEKFNGSSQRRKRPKKSDSNASFLRAARAGNLDKVVEYLKGGIDINTCNQNGLNALHLAAKEG
  HVGLVQELLGRGSSVDSATKKGNTALHIASLAGQAEVVKVLVKEGANINAQSQNGFTPLYMAAQENHIDVVKYLL
  ENGANQSTATEDGFTPLAVALQQGHNQAVAILLENDTKGKVRLPALHIAARKDDTKSAALLLQNDHNADVQSKMM
  VNRTTESGFTPLHIAAHYGNVNVATLLLNRGAAVDFTARNGITPLHVASKRGNTNMVKLLLDRGGQIDAKTRDGL
  TPLHCAARSGHDQVVELLLERGAPLLARTKNGLSPLHMAAQGDHVECVKHLLQHKAPVDDVTLDYLTALHVAAHC
  GHYRVTKLLLDKRANPNARALNGFTPLHIACKKNRIKVMELLVKYGASIQAITESGLTPIHVAAFMGHLNIVLLL
  LQNGASPDVTNIRGETALHMAARAGQVEVVRCLLRNGALVDARAREEQTPLHIASRLGKTEIVQLLLQHMAHPDA
  ATTNGYTPLHISAREGQVDVASVLLEAGAAHSLATKKGFTPLHVAAKYGSLDVAKLLLQRRAAADSAGKNGLTPL
  HVAAHYDNQKVALLLLEKGASPHATAKNGYTPLHIAAKKNQMQIASTLLNYGAETNIVTKQGVTPLHLASQEGHT
  DMVTLLLDKGANIHMSTKSGLTSLHLAAQEDKVNVADILTKHGADQDAHTKLGYTPLIVACHYGNVKMVNFLLKQ
  GANVNAKTKNGYTPLHQAAQQGHTHIINVLLQHGAKPNATTANGNTALAIAKRLGYISVVDTLKVVTEEVTTTTT
  TITEKHKLNVPETMTEVLDVSDEEGDDTMTGDGGEYLRPEDLKELGDDSLPSSQFLDGMNYLRYSLEGGRSDSLR
  SFSSDRSHTLSHASYLRDSAVMDDSVVIPSHQVSTLAKEAERNSYRLSWGTENLDNVALSSSPIHSGFLVSFMVD
  ARGGAMRGCRHNGLRIIIPPRKCTAPTRVTCRLVKRHRLATMPPMVEGEGLASRLIEVGPSGAQFLGKLHLPTAP
  PPLNEGESLVSRILQLGPPGTKFLGPVIVEIPHFAALRGKERELVVLRSENGDSWKEHFCDYTEDELNEILNGMD
  EVLDSPEDLEKKRICRIITRDFPQYFAVVSRIKQDSNLIGPEGGVLSSTVVPQVQAVFPEGALTKRIRVGLQAQP
  MHSELVKKILGNKATFSPIVTLEPRRRKFHKPITMTIPVPKASSDVMLNGFGGDAPTLRLLCSITGGTTPAQWED
  ITGTTPLTFVNECVSFTTNVSARFWLIDCRQIQESVTFASQVYREIICVPYMAKFVVFAKSHDPIEARLRCFCMT
  DDKVDKTLEQQENFAEVARSRDVEVLEGKPIYVDCFGNLVPLTKSGQHHIFSFFAFKENRLPLFVKVRDTTQEPC
  GRLSFMKEPKSTRGLVHQAICNLNITLPIYTKESESDQEQEEEIDMTSEKNDETESTETSVLKSHLVNEVPVLAS
  PDLLSEVSEMKQDLIKMTAILTTDVSDKAGSIKVKELVKAAEEEPGEPFEIVERVKEDLEKVNEILRSGTCTRDE
  SSVQSSRSERGLVEEEWVIVSDEEIEEARQKAPLEITEYPCVEVRIDKEIKGKVEKDSTGLVNYLTDDLNTCVPL
  PKEQLQTVQDKAGKKCEALAVGRSSEKEGKDIPPDETQSTQKQHKPSLGIKKPVRRKLKEKQKQKEEGLQASAEK
  AELKKGSSEESLGEDPGLAPEPLPTVKATSPLIEETPIGSIKDKVKALQKRVEDEQKGRSKLPIRVKGKEDVPKK
  TTHRPHPAASPSLKSERHAPGSPSPKTERHSTLSSSAKTERHPPVSPSSKTEKHSPVSPSAKTERHSPASSSSKT
  EKHSPVSPSTKTERHSPVSSTKTERHPPVSPSGKTDKRPPVSPSGRTEKHPPVSPGRTEKRLPVSPSGRTDKHQP
  VSTAGKTEKHLPVSPSGKTEKQPPVSPTSKTERIEETMSVRELMKAFQSGQDPSKHKTGLFEHKSAKQKQPQEKG
  KVRVEKEKGPILTQREAQKTENQTIKRGQRLPVTGTAESKRGVRVSSIGVKKEDAAGGKEKVLSHKIPEPVQSVP
  EEESHRESEVPKEKMADEQGDMDLQISPDRKTSTDFSEVIKQELEDNDKYQQFRLSEETEKAQLHLDQVLTSPFN
  TTFPLDYMKDEFLPALSLQSGALDGSSESLKNEGVAGSPCGSLMEGTPQISSEESYKHEGLAETPETSPESLSFS
  PKKSEEQTGETKESTKTETTTEIRSEKEHPTTKDITGGSEERGATVTEDSETSTESFQKEATLGSPKDTSPKRQD
  DCTGSCSVALAKETPTGLTEEAACDEGQRTFGSSAHKTQTDSEVQESTATSDETKALPLPEASVKTDTGTESKPQ
  GVIRSPQGLELALPSRDSEVLSAVADDSLAVSHKDSLEASPVLEDNSSHKTPDSLEPSPLKESPCRDSLESSPVE
  PKMKAGIFPSHFPLPAAVAKTELLTEVASVRSRLLRDPDGSAEDDSLEQTSLMESSGKSPLSPDTPSSEEVSYEV
  TPKTTDVSTPKPAVIHECAEEDDSENGEKKRFTPEEEMFKMVTKIKMFDELEQEAKQKRDYKKEPKQEESSSSSD
  PDADCSVDVDEPKHTGSGEDESGVPVLVTSESRKVSSSSESEPELAQLKKGADSGLLPEPVIRVQPPSPLPSSMD
  SNSSPEEVQFQPVVSKQYTFKMNEDTQEEPGKSEEEKDSESHLAEDRHAVSTEAEDRSYDKLNRDTDQPKICDGH
  GCEAMSPSSSAAPVSSGLQSPTGDDVDEQPVIYKESLALQGTHEKDTEGEELDVSRAESPQADCPSESFSSSSSL
  PHCLVSEGKELDEDISATSSIQKTEVTKTDETFENLPKDCPSQDSSITTQTDRFSMDVPVSDLAENDEIYDPQIT
  SPYENVPSQSFFSSEESKTQTDANHTTSFHSSEVYSVTITSPVEDVVVASSSSGTVLSKESNFEGQDIKMESQQE
  STLWEMQSDSVSSSFEPTMSATTTVVGEQISKVIITKTDVDSDSWSEIREDDEAFEARVKEEEQKIFGLMVDRQS
  QGTTPDTTPARTPTEEGTPTSEQNPFLFQEGKLFEMTRSGAIDMTKRSYADESFHFFQIGQESREETLSEDVKEG
  ATGADPLPLETSAESLALSESKETVDDEADLLPDDVSEEVEEIPASDAQLNSQMGISASTETPTKEAVSVGTKDL
  PTVQTGDIPPLSGVKQISCPDSSEPAVQVQLDFSTLTRSVYSDRGDDSPDSSPEEQKSVIEIPTAPMENVPFTES
  KSKIPVRTMPTSTPAPPSAEYESSVSEDFLSSVDEENKADEAKPKSKLPVKVPLQRVEQQLSDLDTSVQKTVAPQ
  GQDMASIAPDNRSKSESDASSLDSKTKCPVKTRSYTETETESRERAEELELESEEGATRPKILTSRLPVKSRSTT
  SSCRGGTSPTKESKEHFFDLYRNSIEFFEEISDEASKLVDRLTQSEREQEIVSDDESSSALEVSVIENLPPVETE
  HSVPEDIFDTRPIWDESIETLIERIPDENGHDHAEDPQDEQERIEERLAYIADHLGFSWTELARELDFTEEQIHQ
  IRIENPNSLQDQSHALLKYWLERDGKHATDTNLVECLTKINRMDIVHLMETNTEPLQERISHSYAEIEQTITLDH
  SEGFSVLQEELCTAQHKQKEEQAVSKESETCDHPPIVSEEDISVGYSTFQDGVPKTEGDSSATALFPQTHKEQVQ
  QDFSGKMQDLPEESSLEYQQEYFVTTPGTETSETQKAMIVPSSPSKTPEEVSTPAEEEKLYLQTPTSSERGGSPI
  IQEPEEPSEHREESSPRKTSLVIVESADNQPETCERLDEDAAFEKGDDMPEIPPETVTEEEYIDEHGHTVVKKVT
  RKIIRRYVSSEGTEKEEIMVQGMPQEPVNIEEGDGYSKVIKRVVLKSDTEQSEDNNE

• Structural information:
  • Protein Domains: (968..115-)
    (/note="ZU5-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (1158..130-)
    (/note="ZU5-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (1450..153-)
    (/note="Death-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0006-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR040745  IPR011029   IPR000488  IPR000906  
  • Prosite: PS50297 PS50088 PS50017 PS51145
  • PDB: 4D8O 4RLV 4RLY 5Y4D 5Y4E 5Y4F 5YIR 5YIS 6KZJ
  • PDBsum: 4D8O 4RLV 4RLY 5Y4D 5Y4E 5Y4F 5YIR 5YIS 6KZJ
  • DIP: 37425
  • STRING: ENSP00000349588
• Other Databases: GeneCards:  ANK2  Malacards:  ANK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0030507	spectrin binding	IBA	molecular function
GO:0008093	cytoskeletal anchor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0051597	response to methylmercury	IEA	biological process
GO:0005886	plasma membrane	NAS	cellular component
GO:0098907	regulation of SA node cell action potential	IMP	biological process
GO:0098907	regulation of SA node cell action potential	IMP	biological process
GO:0030507	spectrin binding	IPI	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0098910	regulation of atrial cardiac muscle cell action potential	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030674	protein-macromolecule adaptor activity	ISS	molecular function
GO:0051117	ATPase binding	ISS	molecular function
GO:0003283	atrial septum development	IMP	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0010628	positive regulation of gene expression	IGI	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IGI	biological process
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	IMP	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0030315	T-tubule	ISS	cellular component
GO:0033292	T-tubule organization	ISS	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0051924	regulation of calcium ion transport	IGI	biological process
GO:0051924	regulation of calcium ion transport	IGI	biological process
GO:0051928	positive regulation of calcium ion transport	ISS	biological process
GO:0055117	regulation of cardiac muscle contraction	IMP	biological process
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0072659	protein localization to plasma membrane	IGI	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086070	SA node cell to atrial cardiac muscle cell communication	IMP	biological process
GO:0086070	SA node cell to atrial cardiac muscle cell communication	IMP	biological process
GO:0086070	SA node cell to atrial cardiac muscle cell communication	IMP	biological process
GO:1901018	positive regulation of potassium ion transmembrane transporter activity	ISS	biological process
GO:1901019	regulation of calcium ion transmembrane transporter activity	ISS	biological process
GO:2001259	positive regulation of cation channel activity	ISS	biological process
GO:0031647	regulation of protein stability	IC	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0030018	Z disc	ISS	cellular component
GO:0031430	M band	ISS	cellular component
GO:0031672	A band	ISS	cellular component
GO:0033365	protein localization to organelle	IGI	biological process
GO:0034394	protein localization to cell surface	ISS	biological process
GO:0034613	cellular protein localization	IGI	biological process
GO:0034613	cellular protein localization	IGI	biological process
GO:0036309	protein localization to M-band	ISS	biological process
GO:0036309	protein localization to M-band	ISS	biological process
GO:0036371	protein localization to T-tubule	ISS	biological process
GO:0042383	sarcolemma	ISS	cellular component
GO:0043034	costamere	ISS	cellular component
GO:0043268	positive regulation of potassium ion transport	ISS	biological process
GO:0051279	regulation of release of sequestered calcium ion into cytosol	IGI	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:0070296	sarcoplasmic reticulum calcium ion transport	TAS	biological process
GO:0070972	protein localization to endoplasmic reticulum	IGI	biological process
GO:0086004	regulation of cardiac muscle cell contraction	IGI	biological process
GO:0086014	atrial cardiac muscle cell action potential	IMP	biological process
GO:0086014	atrial cardiac muscle cell action potential	IMP	biological process
GO:0086014	atrial cardiac muscle cell action potential	IMP	biological process
GO:0086015	SA node cell action potential	ISS	biological process
GO:0086046	membrane depolarization during SA node cell action potential	TAS	biological process
GO:0086066	atrial cardiac muscle cell to AV node cell communication	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:1901021	positive regulation of calcium ion transmembrane transporter activity	ISS	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0140031	phosphorylation-dependent protein binding	IPI	molecular function
GO:0140031	phosphorylation-dependent protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer

Diseases

Associated diseases	References
Long QT syndrome	KEGG:H00720
Long QT syndrome	KEGG:H00720
Atrial fibrillation	PMID:21859974
Sick sinus syndrome	PMID:15178757
Long QT syndrome	PMID:12571597
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray