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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8086
Gene name Gene Name - the full gene name approved by the HGNC.	Aladin WD repeat nucleoporin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AAAS
Synonyms (NCBI Gene) Gene synonyms aliases	AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AAA
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored the

Show/Hide all(23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80027466	A>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs121918547	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs121918548	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121918549	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs121918550	A>G	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918551	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs150511103	C>A,G,T	Pathogenic	Splice donor variant
rs369629444	C>G	Pathogenic	Splice acceptor variant
rs387906326	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs552637666	CA>-	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, stop gained
rs746305979	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs754637718	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs763216820	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs763820204	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766542823	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs770214071	CAGA>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs773601814	A>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041850	CAAACACT>-	Pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1017700992	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1035139364	C>T	Pathogenic	Splice donor variant
rs1565776390	T>A	Pathogenic	Missense variant, splice acceptor variant, coding sequence variant
rs1565781382	T>C	Pathogenic	Splice acceptor variant
rs1592513048	CT>-	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant

Show/Hide all(6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031962	hsa-miR-16-5p	Proteomics	18668040
MIRT049994	hsa-miR-28-5p	CLASH	23622248
MIRT041345	hsa-miR-193b-3p	CLASH	23622248
MIRT036148	hsa-miR-1296-5p	CLASH	23622248
MIRT441319	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441319	hsa-miR-218-5p	HITS-CLIP	23212916

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	26246606
GO:0001578	Process	Microtubule bundle formation	IMP	26246606
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	27754849
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005635	Component	Nuclear envelope	IDA	27754849
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IBA	21873635
GO:0005643	Component	Nuclear pore	IDA	12730363
GO:0005654	Component	Nucleoplasm	IDA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006110	Process	Regulation of glycolytic process	TAS
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0006409	Process	TRNA export from nucleus	TAS
GO:0006913	Process	Nucleocytoplasmic transport	IBA	21873635
GO:0006913	Process	Nucleocytoplasmic transport	IDA	12730363
GO:0007612	Process	Learning	IEA
GO:0009566	Process	Fertilization	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	TAS
GO:0016925	Process	Protein sumoylation	TAS
GO:0019083	Process	Viral transcription	TAS
GO:0031965	Component	Nuclear membrane	IDA
GO:0043657	Component	Host cell	IEA
GO:0046822	Process	Regulation of nucleocytoplasmic transport	NAS	12730363
GO:0060964	Process	Regulation of gene silencing by miRNA	TAS
GO:0072686	Component	Mitotic spindle	IDA	26246606
GO:0075733	Process	Intracellular transport of virus	TAS
GO:0090307	Process	Mitotic spindle assembly	IMP	26246606
GO:1900034	Process	Regulation of cellular response to heat	TAS

MIM	HGNC	e!Ensembl
605378	13666	ENSG00000094914

Protein

UniProt ID

Q9NRG9

Protein name

Aladin (Adracalin)

Protein function

Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein N

PDB

7R5J , 7R5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	235 → 273	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947). {ECO:0000269|PubMed:11159947, ECO:

Sequence

MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGR
LDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRW
ASSLHGSLFPHLSLRSEDLIAEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNA
SSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPTSLSTRPSSGCAQVLS
HPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGS
KILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPE
RCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPR
VQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIA
HIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPH
SPHSHL

Sequence length

546

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport		ISG15 antiviral mechanism Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Vpr-mediated nuclear import of PICs snRNP Assembly SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) tRNA processing in the nucleus HCMV Early Events HCMV Late Events

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086 View all (27 more)
Glucocorticoid deficiency with achalasia	Glucocorticoid deficiency with achalasia	rs121918547, rs121918548, rs387906326, rs1565781382, rs121918549, rs121918550, rs1035139364, rs754637718, rs773601814, rs150511103, rs770214071, rs552637666, rs746305979, rs766542823, rs1592513048, rs758057774, rs758440592 View all (2 more)	11159947, 18615337, 17853339, 21865313, 23315990, 15666842, 12429595, 16609705, 11701718, 22538409, 25529582, 20674935, 12752575, 11815731, 11062474
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	26622478, 6243664, 18628786, 12752575, 16098009, 1537368
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	24763052

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
Achalasia Addisonianism Alacrimia syndrome	Associate	12008750, 12730363, 15217518, 15516781, 16467144, 19855093, 23800107, 23825130, 26519721, 29334914, 29866068, 29874194, 30612286, 31600784, 31939195 View all (6 more)
Addison Disease	Associate	34193132
Adrenal Gland Neoplasms	Associate	23825130
Adrenal Insufficiency	Associate	23800107, 26519721, 37924815
Adrenocortical Carcinoma	Associate	23825130
Alacrima	Associate	12008750, 29334914, 35570467
Autonomic Nervous System Diseases	Associate	31600784, 35570467
Basal Ganglia Diseases	Associate	33087664
Cerebellar Ataxia	Associate	31600784
Dysarthria	Associate	35570467
Esophageal Achalasia	Associate	12008750, 26519721, 35570467
Familial Glucocorticoid Deficiency 1	Associate	12008750, 37331934
Genetic Diseases Inborn	Associate	31939195
Motor Neuron Disease	Associate	31600784, 33087664
Muscle Weakness	Associate	35570467
Neoplasms	Associate	16909202
Neurologic Manifestations	Associate	30612286
Niemann Pick Disease Type C	Associate	12730363
Optic Atrophy	Associate	35570467
Osteoporosis	Associate	39953608
Taste Disorders	Associate	34193132

AAAS (aladin WD repeat nucleoporin)