• Gene id: 288

Gene Summary

• Gene Symbol: ANK3   Gene   UCSC   Ensembl
• Aliases: ANKYRIN-G, MRT37
• Gene name: ankyrin 3
• Alternate names: ankyrin-3, ankyrin 3, node of Ranvier (ankyrin G),
• Gene location: 10q21.2 (60733527: 60026297)     Exons: 52     NC_000010.11
• Gene summary(Entrez): Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of spe
• OMIM: 600465

SNPs

rs3021522

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

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

Protein Summary

• Protein general information: Q12955  
  • Name: Ankyrin 3 (ANK 3) (Ankyrin G)
  • Length: 4377  
  • Mass: 480410
  • Tissue specificity: Expressed in brain, neurons, muscles and other tissues. {ECO
• Sequence:

  MAHAASQLKKNRDLEINAEEEPEKKRKHRKRSRDRKKKSDANASYLRAARAGHLEKALDYIKNGVDINICNQNGL
  NALHLASKEGHVEVVSELLQREANVDAATKKGNTALHIASLAGQAEVVKVLVTNGANVNAQSQNGFTPLYMAAQE
  NHLEVVKFLLDNGASQSLATEDGFTPLAVALQQGHDQVVSLLLENDTKGKVRLPALHIAARKDDTKAAALLLQND
  NNADVESKSGFTPLHIAAHYGNINVATLLLNRAAAVDFTARNDITPLHVASKRGNANMVKLLLDRGAKIDAKTRD
  GLTPLHCGARSGHEQVVEMLLDRAAPILSKTKNGLSPLHMATQGDHLNCVQLLLQHNVPVDDVTNDYLTALHVAA
  HCGHYKVAKVLLDKKANPNAKALNGFTPLHIACKKNRIKVMELLLKHGASIQAVTESGLTPIHVAAFMGHVNIVS
  QLMHHGASPNTTNVRGETALHMAARSGQAEVVRYLVQDGAQVEAKAKDDQTPLHISARLGKADIVQQLLQQGASP
  NAATTSGYTPLHLSAREGHEDVAAFLLDHGASLSITTKKGFTPLHVAAKYGKLEVANLLLQKSASPDAAGKSGLT
  PLHVAAHYDNQKVALLLLDQGASPHAAAKNGYTPLHIAAKKNQMDIATTLLEYGADANAVTRQGIASVHLAAQEG
  HVDMVSLLLGRNANVNLSNKSGLTPLHLAAQEDRVNVAEVLVNQGAHVDAQTKMGYTPLHVGCHYGNIKIVNFLL
  QHSAKVNAKTKNGYTPLHQAAQQGHTHIINVLLQNNASPNELTVNGNTALGIARRLGYISVVDTLKIVTEETMTT
  TTVTEKHKMNVPETMNEVLDMSDDEVRKANAPEMLSDGEYISDVEEGEDAMTGDTDKYLGPQDLKELGDDSLPAE
  GYMGFSLGARSASLRSFSSDRSYTLNRSSYARDSMMIEELLVPSKEQHLTFTREFDSDSLRHYSWAADTLDNVNL
  VSSPIHSGFLVSFMVDARGGSMRGSRHHGMRIIIPPRKCTAPTRITCRLVKRHKLANPPPMVEGEGLASRLVEMG
  PAGAQFLGPVIVEIPHFGSMRGKERELIVLRSENGETWKEHQFDSKNEDLTELLNGMDEELDSPEELGKKRICRI
  ITKDFPQYFAVVSRIKQESNQIGPEGGILSSTTVPLVQASFPEGALTKRIRVGLQAQPVPDEIVKKILGNKATFS
  PIVTVEPRRRKFHKPITMTIPVPPPSGEGVSNGYKGDTTPNLRLLCSITGGTSPAQWEDITGTTPLTFIKDCVSF
  TTNVSARFWLADCHQVLETVGLATQLYRELICVPYMAKFVVFAKMNDPVESSLRCFCMTDDKVDKTLEQQENFEE
  VARSKDIEVLEGKPIYVDCYGNLAPLTKGGQQLVFNFYSFKENRLPFSIKIRDTSQEPCGRLSFLKEPKTTKGLP
  QTAVCNLNITLPAHKKETESDQDDEIEKTDRRQSFASLALRKRYSYLTEPGMIERSTGATRSLPTTYSYKPFFST
  RPYQSWTTAPITVPGPAKSGFTSLSSSSSNTPSASPLKSIWSVSTPSPIKSTLGASTTSSVKSISDVASPIRSFR
  TMSSPIKTVVSQSPYNIQVSSGTLARAPAVTEATPLKGLASNSTFSSRTSPVTTAGSLLERSSITMTPPASPKSN
  INMYSSSLPFKSIITSAAPLISSPLKSVVSPVKSAVDVISSAKITMASSLSSPVKQMPGHAEVALVNGSISPLKY
  PSSSTLINGCKATATLQEKISSATNSVSSVVSAATDTVEKVFSTTTAMPFSPLRSYVSAAPSAFQSLRTPSASAL
  YTSLGSSISATTSSVTSSIITVPVYSVVNVLPEPALKKLPDSNSFTKSAAALLSPIKTLTTETHPQPHFSRTSSP
  VKSSLFLAPSALKLSTPSSLSSSQEILKDVAEMKEDLMRMTAILQTDVPEEKPFQPELPKEGRIDDEEPFKIVEK
  VKEDLVKVSEILKKDVCVDNKGSPKSPKSDKGHSPEDDWIEFSSEEIREARQQAAASQSPSLPERVQVKAKAASE
  KDYNLTKVIDYLTNDIGSSSLTNLKYKFEDAKKDGEERQKRVLKPAIALQEHKLKMPPASMRTSTSEKELCKMAD
  SFFGTDTILESPDDFSQHDQDKSPLSDSGFETRSEKTPSAPQSAESTGPKPLFHEVPIPPVITETRTEVVHVIRS
  YDPSAGDVPQTQPEEPVSPKPSPTFMELEPKPTTSSIKEKVKAFQMKASSEEDDHNRVLSKGMRVKEETHITTTT
  RMVYHSPPGGEGASERIEETMSVHDIMKAFQSGRDPSKELAGLFEHKSAVSPDVHKSAAETSAQHAEKDNQMKPK
  LERIIEVHIEKGNQAEPTEVIIRETKKHPEKEMYVYQKDLSRGDINLKDFLPEKHDAFPCSEEQGQQEEEELTAE
  ESLPSYLESSRVNTPVSQEEDSRPSSAQLISDDSYKTLKLLSQHSIEYHDDELSELRGESYRFAEKMLLSEKLDV
  SHSDTEESVTDHAGPPSSELQGSDKRSREKIATAPKKEILSKIYKDVSENGVGKVSKDEHFDKVTVLHYSGNVSS
  PKHAMWMRFTEDRLDRGREKLIYEDRVDRTVKEAEEKLTEVSQFFRDKTEKLNDELQSPEKKARPKNGKEYSSQS
  PTSSSPEKVLLTELLASNDEWVKARQHGPDGQGFPKAEEKAPSLPSSPEKMVLSQQTEDSKSTVEAKGSISQSKA
  PDGPQSGFQLKQSKLSSIRLKFEQGTHAKSKDMSQEDRKSDGQSRIPVKKIQESKLPVYQVFAREKQQKAIDLPD
  ESVSVQKDFMVLKTKDEHAQSNEIVVNDSGSDNVKKQRTEMSSKAMPDSFSEQQAKDLACHITSDLATRGPWDKK
  VFRTWESSGATNNKSQKEKLSHVLVHDVRENHIGHPESKSVDQKNEFMSVTERERKLLTNGSLSEIKEMTVKSPS
  KKVLYREYVVKEGDHPGGLLDQPSRRSESSAVSHIPVRVADERRMLSSNIPDGFCEQSAFPKHELSQKLSQSSMS
  KETVETQHFNSIEDEKVTYSEISKVSKHQSYVGLCPPLEETETSPTKSPDSLEFSPGKESPSSDVFDHSPIDGLE
  KLAPLAQTEGGKEIKTLPVYVSFVQVGKQYEKEIQQGGVKKIISQECKTVQETRGTFYTTRQQKQPPSPQGSPED
  DTLEQVSFLDSSGKSPLTPETPSSEEVSYEFTSKTPDSLIAYIPGKPSPIPEVSEESEEEEQAKSTSLKQTTVEE
  TAVEREMPNDVSKDSNQRPKNNRVAYIEFPPPPPLDADQIESDKKHHYLPEKEVDMIEVNLQDEHDKYQLAEPVI
  RVQPPSPVPPGADVSDSSDDESIYQPVPVKKYTFKLKEVDDEQKEKPKASAEKASNQKELESNGSGKDNEFGLGL
  DSPQNEIAQNGNNDQSITECSIATTAEFSHDTDATEIDSLDGYDLQDEDDGLTESDSKLPIQAMEIKKDIWNTEG
  ILKPADRSFSQSKLEVIEEEGKVGPDEDKPPSKSSSSEKTPDKTDQKSGAQFFTLEGRHPDRSVFPDTYFSYKVD
  EEFATPFKTVATKGLDFDPWSNNRGDDEVFDSKSREDETKPFGLAVEDRSPATTPDTTPARTPTDESTPTSEPNP
  FPFHEGKMFEMTRSGAIDMSKRDFVEERLQFFQIGEHTSEGKSGDQGEGDKSMVTATPQPQSGDTTVETNLERNV
  ETPTVEPNPSIPTSGECQEGTSSSGSLEKSAAATNTSKVDPKLRTPIKMGISASTMTMKKEGPGEITDKIEAVMT
  SCQGLENETITMISNTANSQMGVRPHEKHDFQKDNFNNNNNLDSSTIQTDNIMSNIVLTEHSAPTCTTEKDNPVK
  VSSGKKTGVLQGHCVRDKQKVLGEQQKTKELIGIRQKSKLPIKATSPKDTFPPNHMSNTKASKMKQVSQSEKTKA
  LTTSSCVDVKSRIPVKNTHRDNIIAVRKACATQKQGQPEKGKAKQLPSKLPVKVRSTCVTTTTTTATTTTTTTTT
  TTTSCTVKVRKSQLKEVCKHSIEYFKGISGETLKLVDRLSEEEKKMQSELSDEEESTSRNTSLSETSRGGQPSVT
  TKSARDKKTEAAPLKSKSEKAGSEKRSSRRTGPQSPCERTDIRMAIVADHLGLSWTELARELNFSVDEINQIRVE
  NPNSLISQSFMLLKKWVTRDGKNATTDALTSVLTKINRIDIVTLLEGPIFDYGNISGTRSFADENNVFHDPVDGW
  QNETSSGNLESCAQARRVTGGLLDRLDDSPDQCRDSITSYLKGEAGKFEANGSHTEITPEAKTKSYFPESQNDVG
  KQSTKETLKPKIHGSGHVEEPASPLAAYQKSLEETSKLIIEETKPCVPVSMKKMSRTSPADGKPRLSLHEEEGSS
  GSEQKQGEGFKVKTKKEIRHVEKKSHS

• Structural information:
  • Protein Domains: (984..113-)
    (/note="ZU5-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (1141..128-)
    (/note="ZU5-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (4090..417-)
    (/note="Death-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00064"-)
  • Interpro: IPR037971  IPR002110  IPR020683  IPR036770  IPR040745   IPR011029  IPR000488  IPR000906  
  • Prosite: PS50297 PS50088 PS50017 PS51145
  • CDD: cd08803
  • PDB: 4O6X
  • PDBsum: 4O6X
  • DIP: 49017
  • STRING: ENSP00000280772
• Other Databases: GeneCards:  ANK3  Malacards:  ANK3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033268	node of Ranvier	ISS	cellular component
GO:0033268	node of Ranvier	ISS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0044325	ion channel binding	IBA	molecular function
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0030507	spectrin binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0008093	cytoskeletal anchor activity	IBA	molecular function
GO:1902260	negative regulation of delayed rectifier potassium channel activity	ISS	biological process
GO:0071286	cellular response to magnesium ion	ISS	biological process
GO:0010960	magnesium ion homeostasis	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005794	Golgi apparatus	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008092	cytoskeletal protein binding	ISS	molecular function
GO:0030507	spectrin binding	ISS	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0045296	cadherin binding	ISS	molecular function
GO:0005200	structural constituent of cytoskeleton	IMP	molecular function
GO:0030674	protein-macromolecule adaptor activity	ISS	molecular function
GO:0005923	bicellular tight junction	IDA	colocalizes with
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0009925	basal plasma membrane	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010765	positive regulation of sodium ion transport	ISS	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0019228	neuronal action potential	ISS	biological process
GO:0030315	T-tubule	ISS	cellular component
GO:0033268	node of Ranvier	ISS	cellular component
GO:0045838	positive regulation of membrane potential	ISS	biological process
GO:0071709	membrane assembly	IMP	biological process
GO:0071709	membrane assembly	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0072659	protein localization to plasma membrane	IGI	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:1900827	positive regulation of membrane depolarization during cardiac muscle cell action potential	ISS	biological process
GO:2000651	positive regulation of sodium ion transmembrane transporter activity	ISS	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0007009	plasma membrane organization	IMP	biological process
GO:0007409	axonogenesis	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0014731	spectrin-associated cytoskeleton	ISS	cellular component
GO:0043001	Golgi to plasma membrane protein transport	IMP	biological process
GO:0043034	costamere	TAS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
GO:0043266	regulation of potassium ion transport	ISS	biological process
GO:0072660	maintenance of protein location in plasma membrane	IGI	biological process
GO:0008092	cytoskeletal protein binding	ISS	molecular function
GO:0007528	neuromuscular junction development	ISS	biological process
GO:0034112	positive regulation of homotypic cell-cell adhesion	ISS	biological process
GO:0071709	membrane assembly	ISS	biological process
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:2001259	positive regulation of cation channel activity	ISS	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0016529	sarcoplasmic reticulum	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0033268	node of Ranvier	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0010650	positive regulation of cell communication by electrical coupling	ISS	biological process
GO:0090314	positive regulation of protein targeting to membrane	ISS	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0031594	neuromuscular junction	ISS	cellular component
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0043194	axon initial segment	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0099612	protein localization to axon	ISS	biological process
GO:0045184	establishment of protein localization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq