Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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
rs121908566	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs139965373	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs144875383	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs144888041	G>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs189083857	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs192046591	A>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, intron variant
rs201958512	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201977551	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs367857951	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs376950905	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs553800160	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880043	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs796052199	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs796052200	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1563145763	G>A	Likely-pathogenic	Coding sequence variant, stop gained

122

Show/Hide all (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
MIRT776006	hsa-miR-1283	CLIP-seq
MIRT776007	hsa-miR-133a	CLIP-seq
MIRT776008	hsa-miR-133b	CLIP-seq
MIRT776009	hsa-miR-300	CLIP-seq
MIRT776010	hsa-miR-3120-5p	CLIP-seq
MIRT776011	hsa-miR-3145-3p	CLIP-seq
MIRT776012	hsa-miR-3149	CLIP-seq
MIRT776013	hsa-miR-320e	CLIP-seq
MIRT776014	hsa-miR-3689a-5p	CLIP-seq
MIRT776015	hsa-miR-3689b	CLIP-seq
MIRT776016	hsa-miR-3689e	CLIP-seq
MIRT776017	hsa-miR-3689f	CLIP-seq
MIRT776018	hsa-miR-381	CLIP-seq
MIRT776019	hsa-miR-4281	CLIP-seq
MIRT776020	hsa-miR-4423-3p	CLIP-seq
MIRT776021	hsa-miR-4666-3p	CLIP-seq
MIRT776022	hsa-miR-4684-5p	CLIP-seq
MIRT776023	hsa-miR-4733-3p	CLIP-seq
MIRT776024	hsa-miR-513b	CLIP-seq
MIRT776025	hsa-miR-568	CLIP-seq
MIRT776026	hsa-miR-656	CLIP-seq
MIRT776027	hsa-miR-936	CLIP-seq
MIRT776028	hsa-miR-3133	CLIP-seq
MIRT776024	hsa-miR-513b	CLIP-seq
MIRT776029	hsa-miR-520d-5p	CLIP-seq
MIRT776030	hsa-miR-524-5p	CLIP-seq
MIRT776031	hsa-miR-548b-3p	CLIP-seq
MIRT1929006	hsa-miR-106a	CLIP-seq
MIRT1929007	hsa-miR-106b	CLIP-seq
MIRT1929008	hsa-miR-1197	CLIP-seq
MIRT1929009	hsa-miR-1286	CLIP-seq
MIRT1929010	hsa-miR-145	CLIP-seq
MIRT1929011	hsa-miR-17	CLIP-seq
MIRT1929012	hsa-miR-181a	CLIP-seq
MIRT1929013	hsa-miR-181b	CLIP-seq
MIRT1929014	hsa-miR-181c	CLIP-seq
MIRT1929015	hsa-miR-181d	CLIP-seq
MIRT1929016	hsa-miR-2054	CLIP-seq
MIRT1929017	hsa-miR-20a	CLIP-seq
MIRT1929018	hsa-miR-20b	CLIP-seq
MIRT1929019	hsa-miR-214	CLIP-seq
MIRT1929020	hsa-miR-34b	CLIP-seq
MIRT1929021	hsa-miR-3619-5p	CLIP-seq
MIRT1929022	hsa-miR-4262	CLIP-seq
MIRT1929023	hsa-miR-4275	CLIP-seq
MIRT1929024	hsa-miR-4291	CLIP-seq
MIRT1929025	hsa-miR-4436a	CLIP-seq
MIRT1929026	hsa-miR-4643	CLIP-seq
MIRT1929027	hsa-miR-466	CLIP-seq
MIRT776021	hsa-miR-4666-3p	CLIP-seq
MIRT1929028	hsa-miR-4668-3p	CLIP-seq
MIRT1929029	hsa-miR-4722-5p	CLIP-seq
MIRT1929030	hsa-miR-4789-3p	CLIP-seq
MIRT1929031	hsa-miR-519a	CLIP-seq
MIRT1929032	hsa-miR-519b-3p	CLIP-seq
MIRT1929033	hsa-miR-519c-3p	CLIP-seq
MIRT1929034	hsa-miR-519d	CLIP-seq
MIRT1929035	hsa-miR-548n	CLIP-seq
MIRT1929036	hsa-miR-548t	CLIP-seq
MIRT1929037	hsa-miR-561	CLIP-seq
MIRT1929038	hsa-miR-761	CLIP-seq
MIRT1929039	hsa-miR-922	CLIP-seq
MIRT1929040	hsa-miR-93	CLIP-seq
MIRT776021	hsa-miR-4666-3p	CLIP-seq
MIRT2169696	hsa-miR-1179	CLIP-seq
MIRT776014	hsa-miR-3689a-5p	CLIP-seq
MIRT776015	hsa-miR-3689b	CLIP-seq
MIRT776016	hsa-miR-3689e	CLIP-seq
MIRT776017	hsa-miR-3689f	CLIP-seq
MIRT2169697	hsa-miR-3692	CLIP-seq
MIRT2169698	hsa-miR-409-3p	CLIP-seq
MIRT2169699	hsa-miR-4307	CLIP-seq
MIRT2169700	hsa-miR-4719	CLIP-seq
MIRT1929012	hsa-miR-181a	CLIP-seq
MIRT1929013	hsa-miR-181b	CLIP-seq
MIRT1929014	hsa-miR-181c	CLIP-seq
MIRT1929015	hsa-miR-181d	CLIP-seq
MIRT1929016	hsa-miR-2054	CLIP-seq
MIRT1929019	hsa-miR-214	CLIP-seq
MIRT2472433	hsa-miR-3161	CLIP-seq
MIRT1929021	hsa-miR-3619-5p	CLIP-seq
MIRT2472434	hsa-miR-374a	CLIP-seq
MIRT2472435	hsa-miR-374b	CLIP-seq
MIRT1929022	hsa-miR-4262	CLIP-seq
MIRT1929024	hsa-miR-4291	CLIP-seq
MIRT2472436	hsa-miR-4457	CLIP-seq
MIRT1929026	hsa-miR-4643	CLIP-seq
MIRT1929027	hsa-miR-466	CLIP-seq
MIRT2472437	hsa-miR-4731-3p	CLIP-seq
MIRT1929030	hsa-miR-4789-3p	CLIP-seq
MIRT2472438	hsa-miR-4801	CLIP-seq
MIRT2472439	hsa-miR-5096	CLIP-seq
MIRT1929035	hsa-miR-548n	CLIP-seq
MIRT1929036	hsa-miR-548t	CLIP-seq
MIRT1929037	hsa-miR-561	CLIP-seq
MIRT2472440	hsa-miR-624	CLIP-seq
MIRT2472441	hsa-miR-660	CLIP-seq
MIRT1929038	hsa-miR-761	CLIP-seq
MIRT1929039	hsa-miR-922	CLIP-seq
MIRT1929012	hsa-miR-181a	CLIP-seq
MIRT1929013	hsa-miR-181b	CLIP-seq
MIRT1929014	hsa-miR-181c	CLIP-seq
MIRT1929015	hsa-miR-181d	CLIP-seq
MIRT1929016	hsa-miR-2054	CLIP-seq
MIRT1929019	hsa-miR-214	CLIP-seq
MIRT1929021	hsa-miR-3619-5p	CLIP-seq
MIRT1929022	hsa-miR-4262	CLIP-seq
MIRT1929024	hsa-miR-4291	CLIP-seq
MIRT1929026	hsa-miR-4643	CLIP-seq
MIRT1929027	hsa-miR-466	CLIP-seq
MIRT1929030	hsa-miR-4789-3p	CLIP-seq
MIRT2472439	hsa-miR-5096	CLIP-seq
MIRT1929035	hsa-miR-548n	CLIP-seq
MIRT1929036	hsa-miR-548t	CLIP-seq
MIRT1929037	hsa-miR-561	CLIP-seq
MIRT1929038	hsa-miR-761	CLIP-seq
MIRT1929039	hsa-miR-922	CLIP-seq

Show/Hide all (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
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IBA
GO:0005795	Component	Golgi stack	IDA	19242490
GO:0005801	Component	Cis-Golgi network	IBA
GO:0005801	Component	Cis-Golgi network	IDA	24648492
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	20096683, 21399614, 24648492, 25657325, 29162697
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	TAS	10202149
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	9482789
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007020	Process	Microtubule nucleation	IMP	19242490
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10390370
GO:0007268	Process	Chemical synaptic transmission	TAS	9482789
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11799244
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IMP	16002409
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	29162697
GO:0031503	Process	Protein-containing complex localization	IDA	19218243
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	21502359
GO:0034237	Function	Protein kinase A regulatory subunit binding	IEA
GO:0034237	Function	Protein kinase A regulatory subunit binding	IPI	17911601
GO:0034705	Component	Potassium channel complex	IDA	19218243
GO:0043025	Component	Neuronal cell body	IEA
GO:0044307	Component	Dendritic branch	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	11799244, 16002409, 18093912
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0051661	Process	Maintenance of centrosome location	IBA
GO:0051661	Process	Maintenance of centrosome location	IMP	25657325
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	11799244, 27666745
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060306	Process	Regulation of membrane repolarization	IMP	16002409
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	18093912
GO:0071320	Process	Cellular response to cAMP	IMP	16002409, 18093912
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	18093912
GO:0097060	Component	Synaptic membrane	IBA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098909	Process	Regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	18093912
GO:0098978	Component	Glutamatergic synapse	IDA	10390370
GO:0098978	Component	Glutamatergic synapse	IMP	10390370
GO:0099104	Function	Potassium channel activator activity	IMP	18093912
GO:0099147	Component	Extrinsic component of postsynaptic density membrane	IEA
GO:1903358	Process	Regulation of Golgi organization	IDA	27666745

MIM	HGNC	e!Ensembl
604001	379	ENSG00000127914

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
LVRRWHRVTGSVSININRDGFGLNQGAEKTDSFYHSSGGLELYGEPRHTTYRSRSDLDYI
RSPLPFQNRYPGTPADFNPGSLACSQLQNYDPDRALTDYITRLEALQRRLGTIQSGSTTQ
FHAGMRR

Sequence length

3907

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Long QT syndrome	Likely pathogenic	rs796052199, rs796052200	RCV000190222 RCV000190223	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome 11	Likely pathogenic	rs730880043	RCV000157100	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (47)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AKAP9-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrest	Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrhythmia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 2	Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
unspecified heart condition	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular tachycardia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (68)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	25172201, 29516269, 35307406, 35567427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	29688227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29274321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	26786868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27707468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18334708, 21931171, 28210903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	25751625, 29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21931171, 24943594, 26510858, 27270325, 33407744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	27707468	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome	Brugada Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	ORPHANET_DG	25016126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	31654968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26786868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28750076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28750076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25087618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17000706, 26786868, 26887056, 27039663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25446987, 26786868, 26887056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	25087618		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyst	Cyst	BEFREE	29097729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	31836585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36966136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26510858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28750076		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38035073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32764209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	20809527, 24561134, 25087618, 28003625, 36395689	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome	Long QT Syndrome	BEFREE	25087618		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 11	Long QT Syndrome	CLINGEN_DG	11799244, 18093912		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 11	Long QT Syndrome	GENOMICS_ENGLAND_DG	11799244, 16301704, 25087618		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 11	Long QT Syndrome	UNIPROT_DG	18093912		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 11	Long QT Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 11	Long QT Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Neoplasms	Lung neoplasms	Pubtator	16741161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18334708, 21931171, 28210903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15630448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24668645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18334708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20520718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29464327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27270325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	16753739, 20951315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31134918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24452374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	24093767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	25943950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26786868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31164161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	38203733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15630448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	38203733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	15630448, 19766698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22887574, 38203733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

AKAP9 (A-kinase anchoring protein 9)