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	8086
Gene name	Aladin WD repeat nucleoporin
Gene symbol	AAAS
Synonyms (NCBI Gene)	AAAAAASbADRACALAADRACALINALADINGL003
Chromosome	12
Chromosome location	12q13.13
Summary	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

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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 (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	26246606
GO:0000922	Component	Spindle pole	IEA
GO:0001578	Process	Microtubule bundle formation	IMP	26246606
GO:0005515	Function	Protein binding	IPI	27754849
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095, 27754849
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IBA
GO:0005643	Component	Nuclear pore	IDA	12730363
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006913	Process	Nucleocytoplasmic transport	IBA
GO:0006913	Process	Nucleocytoplasmic transport	IDA	12730363
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007612	Process	Learning	IEA
GO:0009566	Process	Fertilization	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031965	Component	Nuclear membrane	IDA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0046822	Process	Regulation of nucleocytoplasmic transport	NAS	12730363
GO:0051028	Process	MRNA transport	IEA
GO:0072686	Component	Mitotic spindle	IDA	26246606
GO:0090307	Process	Mitotic spindle assembly	IMP	26246606

MIM	HGNC	e!Ensembl
605378	13666	ENSG00000094914

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

160

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AAAS-related disorder	Pathogenic	rs121918549, rs763216820, rs746305979	RCV004748500 RCV004748681 RCV003962360
Abnormality of the nervous system	Likely pathogenic	rs777711720	RCV001814251
Achalasia-alacrima syndrome	Pathogenic; Likely pathogenic	rs121918551, rs754637718	RCV002508104 RCV002508105
Babinski sign	Likely pathogenic; Pathogenic	rs121918550	RCV000415076
Germ cell tumor of testis	Likely pathogenic; Pathogenic	rs1592513048	RCV005870879
Glucocorticoid deficiency with achalasia	Pathogenic; Likely pathogenic	rs2136811976, rs2136820957, rs765577880, rs1017700992, rs145446970, rs2136811371, rs2121082201, rs754078574, rs774817639, rs1944347921, rs1184877278, rs757303233, rs746057093, rs1297831120, rs2121089586 View all (25 more)	RCV001449917 RCV001449918 RCV003397000 RCV004765890 RCV005006041 RCV004586038 RCV003340764 RCV003332013 RCV001784889 RCV001784911 RCV005013032 RCV005410963 RCV001785163 RCV006262843 RCV001785166 RCV002249206 RCV002249207 RCV005438165 RCV003479438 RCV000184015 RCV000005342 RCV000005343 RCV000005344 RCV000005345 RCV000005347 RCV000005348 RCV000005349 RCV000005351 RCV000005346 RCV000778369 RCV005008222 RCV005013066 RCV005013108 RCV005637013 RCV005013119 RCV003986012 RCV004586441 RCV005431650 RCV001782989 RCV004545882 RCV000791173 RCV001784588 RCV001706976
Hyperreflexia	Likely pathogenic; Pathogenic	rs121918550	RCV000415076
Malignant tumor of esophagus	Pathogenic	rs121918549	RCV005887300
Microcephaly	Likely pathogenic	rs777711720	RCV001252886
Neurodevelopmental disorder	Pathogenic	rs121918548	RCV001778647
Spastic paraparesis	Likely pathogenic; Pathogenic	rs121918550	RCV000415076

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs4759021	RCV005921903
Colon adenocarcinoma	Uncertain significance	rs144873582	RCV005925719
Hepatocellular carcinoma	Benign	rs7953255	RCV005914956
Lung cancer	Benign	rs4759021	RCV005921904
Ovarian serous cystadenocarcinoma	Likely benign	rs4759231	RCV005934657

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)