Gene Gene information from NCBI Gene database.
Entrez ID 10142
Gene name A-kinase anchoring protein 9
Gene symbol AKAP9
Synonyms (NCBI Gene)
AKAP-9AKAP350AKAP450CG-NAPHYPERIONLQT11MU-RMS-40.16APPP1R45PRKA9YOTIAO
Chromosome 7
Chromosome location 7q21.2
Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene e
SNPs SNP information provided by dbSNP.
20
SNP ID Visualize variation Clinical significance Consequence
rs56198613 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs61757663 G>C Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs61757664 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs61757671 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs77447750 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign 3 prime UTR variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
122
miRTarBase ID miRNA Experiments Reference
MIRT004170 hsa-miR-192-5p Microarray 16822819
MIRT030952 hsa-miR-21-5p Microarray 19242418
MIRT776003 hsa-miR-1206 CLIP-seq
MIRT776004 hsa-miR-1226 CLIP-seq
MIRT776005 hsa-miR-1279 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005102 Function Signaling receptor binding TAS 9482789
GO:0005515 Function Protein binding IPI 12163479, 16980960, 18772391, 19242490, 20466722, 23455924, 25416956, 27666745, 28089391, 28514442, 29162697, 29961565, 31413325, 32353859, 32814053, 33060197, 33961781, 36217030
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IDA 12163479, 27666745
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604001 379 ENSG00000127914
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99996
Protein name A-kinase anchor protein 9 (AKAP-9) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (A-kinase anchor protein 450 kDa) (AKAP 450) (AKAP 120-like protein) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP) (Protein hyperion) (Protein
Protein function Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10495 PACT_coil_coil 3704 3785 Pericentrin-AKAP-450 domain of centrosomal targeting protein Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:10202149). Isoform 4: Highly expressed in skeletal muscle and in pancreas (PubMed:9482789). {ECO:0000269|PubMed:10202149, ECO:0000269|PubMed:9482789}.
Sequence
MEDEERQKKLEAGKAKLAQFRQRKAQSDGQSPSKKQKKKRKTSSSKHDVSAHHDLNIDQS
QCNEMYINSSQRVESTVIPESTIMRTLHSGEITSHEQGFSVELESEISTTADDCSSEVNG
CSFVMRTGKPTNLLREEEFGVDDSYSEQGAQDSPTHLEMMESELAGKQHEIEELNRELEE
MRVTYGTEGLQQLQEFEAAIKQRDGIITQLTANLQQARREKDETMREFLELTEQSQKLQI
QFQQLQASETLRNSTHSSTAADLLQAKQQILTHQQQLEEQDHLLEDYQKKKEDFTMQISF
LQEKIKVYEMEQDKKVENSNKEEIQEKETIIEELNTKIIEEEKKTLELKDKLTTADKLLG
ELQEQIVQKNQEIKNMKLELTNSKQKERQSSEEIKQLMGTVEELQKRNHKDSQFETDIVQ
RMEQETQRKLEQLRAELDEMYGQQIVQMKQELIRQHMAQMEEMKTRHKGEMENALRSYSN
ITVNEDQIKLMNVAINELNIKLQDTNSQKEKLKEELGLILEEKCALQRQLEDLVEELSFS
REQIQRARQTIAEQESKLNEAHKSLSTVEDLKAEIVSASESRKELELKHEAEVTNYKIKL
EMLEKEKNAVLDRMAESQEAELERLRTQLLFSHEEELSKLKEDLEIEHRINIEKLKDNLG
IHYKQQIDGLQNEMSQKIETMQFEKDNLITKQNQLILEISKLKDLQQSLVNSKSEEMTLQ
INELQKEIEILRQEEKEKGTLEQEVQELQLKTELLEKQMKEKENDLQEKFAQLEAENSIL
KDEKKTLEDMLKIHTPVSQEERLIFLDSIKSKSKDSVWEKEIEILIEENEDLKQQCIQLN
EEIEKQRNTFSFAEKNFEVNYQELQEEYACLLKVKDDLEDSKNKQELEYKSKLKALNEEL
HLQRINPTTVKMKSSVFDEDKTFVAETLEMGEVVEKDTTELMEKLEVTKREKLELSQRLS
DLSEQLKQKHGEISFLNEEVKSLKQEKEQVSLRCRELEIIINHNRAENVQSCDTQVSSLL
DGVVTMTSRGAEGSVSKVNKSFGEESKIMVEDKVSFENMTVGEESKQEQLILDHLPSVTK
ESSLRATQPSENDKLQKELNVLKSEQNDLRLQMEAQRICLSLVYSTHVDQVREYMENEKD
KALCSLKEELIFAQEEKIKELQKIHQLELQTMKTQETGDEGKPLHLLIGKLQKAVSEECS
YFLQTLCSVLGEYYTPALKCEVNAEDKENSGDYISENEDPELQDYRYEVQDFQENMHTLL
NKVTEEYNKLLVLQTRLSKIWGQQTDGMKLEFGEENLPKEETEFLSIHSQMTNLEDIDVN
HKSKLSSLQDLEKTKLEEQVQELESLISSLQQQLKETEQNYEAEIHCLQKRLQAVSESTV
PPSLPVDSVVITESDAQRTMYPGSCVKKNIDGTIEFSGEFGVKEETNIVKLLEKQYQEQL
EEEVAKVIVSMSIAFAQQTELSRISGGKENTASSKQAHAVCQQEQHYFNEMKLSQDQIGF
QTFETVDVKFKEEFKPLSKELGEHGKEILLSNSDPHDIPESKDCVLTISEEMFSKDKTFI
VRQSIHDEISVSSMDASRQLMLNEEQLEDMRQELVRQYQEHQQATELLRQAHMRQMERQR
EDQEQLQEEIKRLNRQLAQRSSIDNENLVSERERVLLEELEALKQLSLAGREKLCCELRN
SSTQTQNGNENQGEVEEQTFKEKELDRKPEDVPPEILSNERYALQKANNRLLKILLEVVK
TTAAVEETIGRHVLGILDRSSKSQSSASLIWRSEAEASVKSCVHEEHTRVTDESIPSYSG
SDMPRNDINMWSKVTEEGTELSQRLVRSGFAGTEIDPENEELMLNISSRLQAAVEKLLEA
ISETSSQLEHAKVTQTELMRESFRQKQEATESLKCQEELRERLHEESRAREQLAVELSKA
EGVIDGYADEKTLFERQIQEKTDIIDRLEQELLCASNRLQELEAEQQQIQEERELLSRQK
EAMKAEAGPVEQQLLQETEKLMKEKLEVQCQAEKVRDDLQKQVKALEIDVEEQVSRFIEL
EQEKNTELMDLRQQNQALEKQLEKMRKFLDEQAIDREHERDVFQQEIQKLEQQLKVVPRF
QPISEHQTREVEQLANHLKEKTDKCSELLLSKEQLQRDIQERNEEIEKLEFRVRELEQAL
LVSADTFQKVEDRKHFGAVEAKPELSLEVQLQAERDAIDRKEKEITNLEEQLEQFREELE
NKNEEVQQLHMQLEIQKKESTTRLQELEQENKLFKDDMEKLGLAIKESDAMSTQDQHVLF
GKFAQIIQEKEVEIDQLNEQVTKLQQQLKITTDNKVIEEKNELIRDLETQIECLMSDQEC
VKRNREEEIEQLNEVIEKLQQELANIGQKTSMNAHSLSEEADSLKHQLDVVIAEKLALEQ
QVETANEEMTFMKNVLKETNFKMNQLTQELFSLKRERESVEKIQSIPENSVNVAIDHLSK
DKPELEVVLTEDALKSLENQTYFKSFEENGKGSIINLETRLLQLESTVSAKDLELTQCYK
QIKDMQEQGQFETEMLQKKIVNLQKIVEEKVAAALVSQIQLEAVQEYAKFCQDNQTISSE
PERTNIQNLNQLREDELGSDISALTLRISELESQVVEMHTSLILEKEQVEIAEKNVLEKE
KKLLELQKLLEGNEKKQREKEKKRSPQDVEVLKTTTELFHSNEESGFFNELEALRAESVA
TKAELASYKEKAEKLQEELLVKETNMTSLQKDLSQVRDHLAEAKEKLSILEKEDETEVQE
SKKACMFEPLPIKLSKSIASQTDGTLKISSSNQTPQILVKNAGIQINLQSECSSEEVTEI
ISQFTEKIEKMQELHAAEILDMESRHISETETLKREHYVAVQLLKEECGTLKAVIQCLRS
KEGSSIPELAHSDAYQTREICSSDSGSDWGQGIYLTHSQGFDIASEGRGEESESATDSFP
KKIKGLLRAVHNEGMQVLSLTESPYSDGEDHSIQQVSEPWLEERKAYINTISSLKDLITK
MQLQREAEVYDSSQSHESFSDWRGELLLALQQVFLEERSVLLAAFRTELTALGTTDAVGL
LNCLEQRIQEQGVEYQAAMECLQKADRRSLLSEIQALHAQMNGRKITLKREQESEKPSQE
LLEYNIQQKQSQMLEMQVELSSMKDRATELQEQLSSEKMVVAELKSELAQTKLELETTLK
AQHKHLKELEAFRLEVKDKTDEVHLLNDTLASEQKKSRELQWALEKEKAKLGRSEERDKE
ELEDLKFSLESQKQRNLQLNLLLEQQKQLLNESQQKIESQRMLYDAQLSEEQGRNLELQV
LLESEKVRIREMSSTLDRERELHAQLQSSDGTGQSRPPLPSEDLLKELQKQLEEKHSRIV
ELLNETEKYKLDSLQTRQQMEKDRQVHRKTLQTEQEANTEGQKKMHELQSKVEDLQRQLE
EKRQQVYKLDLEGQRLQGIMQEFQKQELEREEKRESRRILYQNLNEPTTWSLTSDRTRNW
VLQQKIEGETKESNYAKLIEMNGGGTGCNHELEMIRQKLQCVASKLQVLPQKASERLQFE
TADDEDFIWVQENIDEIILQLQKLTGQQGEEPSLVSPSTSCGSLTERLLRQNAELTGHIS
QLTEEKNDLRNMVMKLEEQIRWYRQTGAGRDNSSRFSLNGGANIEAIIASEKEVWNREKL
TLQKSLKRAEAEVYKLKAELRNDSLLQTLSPDSEHVTLKRIYGKYLRAESFRKALIYQKK
YLLLLLGGFQECEDATLALLARMGGQPAFTDLEVITNRPKGFTRFRSAVRVSIAISRMKF
LVRRW
HRVTGSVSININRDGFGLNQGAEKTDSFYHSSGGLELYGEPRHTTYRSRSDLDYI
RSPLPFQNRYPGTPADFNPGSLACSQLQNYDPDRALTDYITRLEALQRRLGTIQSGSTTQ
FHAGMRR
Sequence length 3907
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Phase 3 - rapid repolarisation
Phase 2 - plateau phase
Anchoring of the basal body to the plasma membrane
Signaling by BRAF and RAF fusions
AURKA Activation by TPX2
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4326
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Long QT syndrome Likely pathogenic rs796052199, rs796052200 RCV000190222
RCV000190223
Long QT syndrome 11 Likely pathogenic rs730880043 RCV000157100
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AKAP9-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs745898364, rs775989174, rs371133254, rs150968594, rs144662445, rs61757665, rs1214206783, rs765475242, rs749167841, rs771712081, rs139965373, rs151021935, rs34953651, rs144615758, rs141990258
View all (49 more)
RCV003953750
RCV003953759
RCV003948446
RCV003905186
RCV003952635
RCV003905187
RCV003407862
RCV004746521
RCV003416533
RCV003978656
RCV003975223
RCV003975224
RCV003907534
RCV003947450
RCV003917582
RCV003965223
RCV003907540
RCV003907541
RCV003927572
RCV003982921
RCV003422064
RCV003907542
RCV003927571
RCV003937537
RCV003917587
RCV003937748
RCV003927876
RCV003977668
RCV003907875
RCV003909891
RCV003955398
RCV003400451
RCV003410617
RCV003929282
RCV003922603
RCV003957850
RCV004745360
RCV003972520
RCV004747407
RCV003982808
RCV003941396
RCV003937272
RCV003902716
RCV003942576
RCV003932770
RCV003942575
RCV003902715
RCV003900120
RCV003942739
RCV003979946
RCV003928033
RCV003905663
RCV003980199
RCV003953097
RCV003420092
RCV003411779
RCV003411786
RCV003892774
RCV003938226
RCV003892780
RCV003975436
RCV003414000
RCV003393897
RCV003945937
Amyloidosis Benign; Likely benign rs141856443 RCV000853027
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity rs144054367 RCV000853025
Atrial fibrillation Benign; Likely benign rs35669569 RCV000853010
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 25172201, 29516269, 35307406, 35567427
Anodontia Associate 26786868
Arrhythmias Cardiac Associate 27707468
Breast Neoplasms Associate 21931171, 24943594, 26510858, 27270325, 33407744
Brugada Syndrome Associate 27707468
Carcinogenesis Associate 26786868
Cardiomyopathy Dilated Associate 28750076
Cardiomyopathy Hypertrophic Associate 28750076
Cardiovascular Diseases Associate 25087618
Colorectal Neoplasms Associate 25446987, 26786868, 26887056