Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
287
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANK2
Synonyms (NCBI Gene) Gene synonyms aliases
ANK-2, CFAP87, FAP87, LQT4, brank-2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25-q26
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs29372 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant, genic upstream transcript variant
rs34591340 G>T Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs35530544 C>A Likely-benign, benign-likely-benign, pathogenic, benign Missense variant, coding sequence variant
rs45602336 C>T Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs72544141 A>G Likely-benign, pathogenic, not-provided, uncertain-significance, conflicting-interpretations-of-pathogenicity Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003081 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT018205 hsa-miR-335-5p Microarray 18185580
MIRT037121 hsa-miR-877-3p CLASH 23622248
MIRT781631 hsa-miR-1229 CLIP-seq
MIRT781632 hsa-miR-1261 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002027 Process Regulation of heart rate IMP 18832177
GO:0003283 Process Atrial septum development IMP 18832177
GO:0005200 Function Structural constituent of cytoskeleton IEA
GO:0005515 Function Protein binding IPI 15262991, 15611082, 16292983, 17178715, 17474147, 19109891, 19805355, 20489164, 21859974, 26949739, 30021884, 36950384
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
106410 493 ENSG00000145362
Protein
UniProt ID Q01484
Protein name Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non-erythroid ankyrin)
Protein function Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localizatio
PDB 4D8O , 4RLV , 4RLY , 5Y4D , 5Y4E , 5Y4F , 5YIR , 5YIS , 6KZJ , 6M3Q , 8ZE8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 96 128 Ankyrin repeat Repeat
PF12796 Ank_2 125 193 Ankyrin repeats (3 copies) Repeat
PF00023 Ank 232 264 Ankyrin repeat Repeat
PF00023 Ank 265 297 Ankyrin repeat Repeat
PF00023 Ank 298 330 Ankyrin repeat Repeat
PF00023 Ank 331 363 Ankyrin repeat Repeat
PF00023 Ank 364 395 Ankyrin repeat Repeat
PF00023 Ank 397 429 Ankyrin repeat Repeat
PF00023 Ank 430 462 Ankyrin repeat Repeat
PF00023 Ank 463 494 Ankyrin repeat Repeat
PF00023 Ank 496 528 Ankyrin repeat Repeat
PF00023 Ank 529 560 Ankyrin repeat Repeat
PF00023 Ank 562 591 Ankyrin repeat Repeat
PF00023 Ank 595 627 Ankyrin repeat Repeat
PF00023 Ank 628 660 Ankyrin repeat Repeat
PF00023 Ank 661 693 Ankyrin repeat Repeat
PF00023 Ank 727 759 Ankyrin repeat Repeat
PF00023 Ank 760 792 Ankyrin repeat Repeat
PF00791 ZU5 969 1048 ZU5 domain Family
PF00791 ZU5 1044 1100 ZU5 domain Family
PF17809 UPA_2 1324 1454 UPA domain Domain
PF00531 Death 3570 3653 Death domain Domain
Tissue specificity 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:0000269|PubMe
Sequence
MMNEDAAQKSDSGEKFNGSSQRRKRPKKSDSNASFLRAARAGNLDKVVEYLKGGIDINTC
NQNGLNALHLAAKEGHVGLVQELLGRGSSVDSATKKGNTALHIASLAGQAEVVKVLVKEG
ANIN
AQSQNGFTPLYMAAQENHIDVVKYLLENGANQSTATEDGFTPLAVALQQGHNQAVA
ILLENDTKGKVRL
PALHIAARKDDTKSAALLLQNDHNADVQSKMMVNRTTESGFTPLHIA
AHYGNVNVATLLLNRGAAVDFTAR
NGITPLHVASKRGNTNMVKLLLDRGGQIDAKTRDGL
TPLHCAARSGHDQVVELLLERGAPLLARTK
NGLSPLHMAAQGDHVECVKHLLQHKAPVDD
VTL
DYLTALHVAAHCGHYRVTKLLLDKRANPNARALNGFTPLHIACKKNRIKVMELLVKY
GASIQAITE
SGLTPIHVAAFMGHLNIVLLLLQNGASPDVTNIRGETALHMAARAGQVEVV
RCLLRNGALVDARA
REEQTPLHIASRLGKTEIVQLLLQHMAHPDAATTNGYTPLHISARE
GQVDVASVLLEAGAAHSLAT
KKGFTPLHVAAKYGSLDVAKLLLQRRAAADSAGKNGLTPL
HVAAHYDNQKVALLLLEKGASPHATAK
NGYTPLHIAAKKNQMQIASTLLNYGAETNIVTK
QGVTPLHLASQEGHTDMVTLLLDKGANIHMSTKSGLTSLHLAAQEDKVNVADILTKHGAD
QDAHTKLGYTPLIVACHYGNVKMVNFLLKQGANVNAKTKNGYTPLHQAAQQGHTHIINVL
LQHGAKPNATTA
NGNTALAIAKRLGYISVVDTLKVVTEEVTTTTTTITEKHKLNVPETMT
EVLDVSDEEGDDTMTGDGGEYLRPEDLKELGDDSLPSSQFLDGMNYLRYSLEGGRSDSLR
SFSSDRSHTLSHASYLRDSAVMDDSVVIPSHQVSTLAKEAERNSYRLSWGTENLDNVALS
SSPIHSGFLVSFMVDARGGAMRGCRHNGLRIIIPPRKCTAPTRVTCRLVKRHRLATMPPM
VEGEGLASRLIEVGPSGAQFLGK
LHLPTAPPPLNEGESLVSRILQLGPPGTKFLGPVIVE
IPHFAALRGKERELVVLRSE
NGDSWKEHFCDYTEDELNEILNGMDEVLDSPEDLEKKRIC
RIITRDFPQYFAVVSRIKQDSNLIGPEGGVLSSTVVPQVQAVFPEGALTKRIRVGLQAQP
MHSELVKKILGNKATFSPIVTLEPRRRKFHKPITMTIPVPKASSDVMLNGFGGDAPTLRL
LCSITGGTTPAQWEDITGTTPLTFVNECVSFTTNVSARFWLIDCRQIQESVTFASQVYRE
IICVPYMAKFVVFAKSHDPIEARLRCFCMTDDKVDKTLEQQENFAEVARSRDVEVLEGKP
IYVDCFGNLVPLTKSGQHHIFSFFAFKENRLPLFVKVRDTTQEPCGRLSFMKEPKSTRGL
VHQAICNLNITLPI
YTKESESDQEQEEEIDMTSEKNDETESTETSVLKSHLVNEVPVLAS
PDLLSEVSEMKQDLIKMTAILTTDVSDKAGSIKVKELVKAAEEEPGEPFEIVERVKEDLE
KVNEILRSGTCTRDESSVQSSRSERGLVEEEWVIVSDEEIEEARQKAPLEITEYPCVEVR
IDKEIKGKVEKDSTGLVNYLTDDLNTCVPLPKEQLQTVQDKAGKKCEALAVGRSSEKEGK
DIPPDETQSTQKQHKPSLGIKKPVRRKLKEKQKQKEEGLQASAEKAELKKGSSEESLGED
PGLAPEPLPTVKATSPLIEETPIGSIKDKVKALQKRVEDEQKGRSKLPIRVKGKEDVPKK
TTHRPHPAASPSLKSERHAPGSPSPKTERHSTLSSSAKTERHPPVSPSSKTEKHSPVSPS
AKTERHSPASSSSKTEKHSPVSPSTKTERHSPVSSTKTERHPPVSPSGKTDKRPPVSPSG
RTEKHPPVSPGRTEKRLPVSPSGRTDKHQPVSTAGKTEKHLPVSPSGKTEKQPPVSPTSK
TERIEETMSVRELMKAFQSGQDPSKHKTGLFEHKSAKQKQPQEKGKVRVEKEKGPILTQR
EAQKTENQTIKRGQRLPVTGTAESKRGVRVSSIGVKKEDAAGGKEKVLSHKIPEPVQSVP
EEESHRESEVPKEKMADEQGDMDLQISPDRKTSTDFSEVIKQELEDNDKYQQFRLSEETE
KAQLHLDQVLTSPFNTTFPLDYMKDEFLPALSLQSGALDGSSESLKNEGVAGSPCGSLME
GTPQISSEESYKHEGLAETPETSPESLSFSPKKSEEQTGETKESTKTETTTEIRSEKEHP
TTKDITGGSEERGATVTEDSETSTESFQKEATLGSPKDTSPKRQDDCTGSCSVALAKETP
TGLTEEAACDEGQRTFGSSAHKTQTDSEVQESTATSDETKALPLPEASVKTDTGTESKPQ
GVIRSPQGLELALPSRDSEVLSAVADDSLAVSHKDSLEASPVLEDNSSHKTPDSLEPSPL
KESPCRDSLESSPVEPKMKAGIFPSHFPLPAAVAKTELLTEVASVRSRLLRDPDGSAEDD
SLEQTSLMESSGKSPLSPDTPSSEEVSYEVTPKTTDVSTPKPAVIHECAEEDDSENGEKK
RFTPEEEMFKMVTKIKMFDELEQEAKQKRDYKKEPKQEESSSSSDPDADCSVDVDEPKHT
GSGEDESGVPVLVTSESRKVSSSSESEPELAQLKKGADSGLLPEPVIRVQPPSPLPSSMD
SNSSPEEVQFQPVVSKQYTFKMNEDTQEEPGKSEEEKDSESHLAEDRHAVSTEAEDRSYD
KLNRDTDQPKICDGHGCEAMSPSSSAAPVSSGLQSPTGDDVDEQPVIYKESLALQGTHEK
DTEGEELDVSRAESPQADCPSESFSSSSSLPHCLVSEGKELDEDISATSSIQKTEVTKTD
ETFENLPKDCPSQDSSITTQTDRFSMDVPVSDLAENDEIYDPQITSPYENVPSQSFFSSE
ESKTQTDANHTTSFHSSEVYSVTITSPVEDVVVASSSSGTVLSKESNFEGQDIKMESQQE
STLWEMQSDSVSSSFEPTMSATTTVVGEQISKVIITKTDVDSDSWSEIREDDEAFEARVK
EEEQKIFGLMVDRQSQGTTPDTTPARTPTEEGTPTSEQNPFLFQEGKLFEMTRSGAIDMT
KRSYADESFHFFQIGQESREETLSEDVKEGATGADPLPLETSAESLALSESKETVDDEAD
LLPDDVSEEVEEIPASDAQLNSQMGISASTETPTKEAVSVGTKDLPTVQTGDIPPLSGVK
QISCPDSSEPAVQVQLDFSTLTRSVYSDRGDDSPDSSPEEQKSVIEIPTAPMENVPFTES
KSKIPVRTMPTSTPAPPSAEYESSVSEDFLSSVDEENKADEAKPKSKLPVKVPLQRVEQQ
LSDLDTSVQKTVAPQGQDMASIAPDNRSKSESDASSLDSKTKCPVKTRSYTETETESRER
AEELELESEEGATRPKILTSRLPVKSRSTTSSCRGGTSPTKESKEHFFDLYRNSIEFFEE
ISDEASKLVDRLTQSEREQEIVSDDESSSALEVSVIENLPPVETEHSVPEDIFDTRPIWD
ESIETLIERIPDENGHDHAEDPQDEQERIEERLAYIADHLGFSWTELARELDFTEEQIHQ
IRIENPNSLQDQSHALLKYWLERDGKHATDTNLVECLTKINRMDIVHLMETNT
EPLQERI
SHSYAEIEQTITLDHSEGFSVLQEELCTAQHKQKEEQAVSKESETCDHPPIVSEEDISVG
YSTFQDGVPKTEGDSSATALFPQTHKEQVQQDFSGKMQDLPEESSLEYQQEYFVTTPGTE
TSETQKAMIVPSSPSKTPEEVSTPAEEEKLYLQTPTSSERGGSPIIQEPEEPSEHREESS
PRKTSLVIVESADNQPETCERLDEDAAFEKGDDMPEIPPETVTEEEYIDEHGHTVVKKVT
RKIIRRYVSSEGTEKEEIMVQGMPQEPVNIEEGDGYSKVIKRVVLKSDTEQSEDNNE
Sequence length 3957
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytoskeleton in muscle cells
Proteoglycans in cancer
  Interaction between L1 and Ankyrins
COPI-mediated anterograde transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Long QT Syndrome long qt syndrome rs755287627, rs796052197, rs796052198, rs1564067737 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy N/A N/A ClinVar
Brugada Syndrome brugada syndrome N/A N/A ClinVar
Cardiac arrhythmia cardiac arrhythmia, ankyrin-b-related, cardiac arrhythmia, ankyrin-B-related N/A N/A ClinVar, GenCC
cardiac arrhythmia Cardiac arrhythmia N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36539782
Arrhythmias Cardiac Associate 27784853, 27916589, 32233023, 35224819
Arrhythmogenic Right Ventricular Dysplasia Associate 37658721
Atrial Fibrillation Associate 27916589, 31539150
Autistic Disorder Associate 30755392
Autosomal Recessive Primary Microcephaly Associate 27784853
Bipolar Disorder Associate 24882193
Brugada Syndrome Associate 26230511
Carcinogenesis Associate 28334977
Cardiac Arrhythmia Ankyrin B Related Associate 27916589, 35224819