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	26053
Gene name	Activator of transcription and developmental regulator AUTS2
Gene symbol	AUTS2
Synonyms (NCBI Gene)	FBRSL2MRD26
Chromosome	7
Chromosome location	7q11.22
Summary	This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs767529359	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, genic downstream transcript variant, missense variant
rs775225727	C>A,G,T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, missense variant
rs864321694	AA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs869312878	->C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886041609	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886041671	->C	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant
rs1057517708	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1057518198	T>-	Pathogenic	Genic downstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057518986	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1064794696	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1064795490	C>-	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554401434	->GCCCC	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554480487	A>T	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs1554480537	C>T	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs1554481395	CTCA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554481713	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554481763	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1562957809	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1563183444	C>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1563183469	A>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1563183492	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1585645384	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1585645641	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1585646282	->CC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1585653028	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1585653240	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1585667374	TT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1585694219	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1585701007	G>-	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030951	hsa-miR-21-5p	Microarray	19253296
MIRT046611	hsa-miR-222-3p	CLASH	23622248
MIRT441135	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441135	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT812212	hsa-miR-3653	CLIP-seq
MIRT812213	hsa-miR-3658	CLIP-seq
MIRT812214	hsa-miR-450b-5p	CLIP-seq
MIRT812215	hsa-miR-455-3p	CLIP-seq
MIRT812216	hsa-miR-4712-5p	CLIP-seq
MIRT812217	hsa-miR-485-3p	CLIP-seq
MIRT812218	hsa-miR-518a-5p	CLIP-seq
MIRT812219	hsa-miR-527	CLIP-seq
MIRT812220	hsa-miR-582-5p	CLIP-seq
MIRT812221	hsa-miR-770-5p	CLIP-seq
MIRT812222	hsa-miR-3121-3p	CLIP-seq
MIRT812223	hsa-miR-4328	CLIP-seq
MIRT1921527	hsa-miR-129-5p	CLIP-seq
MIRT812214	hsa-miR-450b-5p	CLIP-seq
MIRT1921528	hsa-miR-507	CLIP-seq
MIRT812218	hsa-miR-518a-5p	CLIP-seq
MIRT812219	hsa-miR-527	CLIP-seq
MIRT1921529	hsa-miR-557	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT1940225	hsa-miR-216b	CLIP-seq
MIRT1940226	hsa-miR-3137	CLIP-seq
MIRT1940227	hsa-miR-4703-3p	CLIP-seq
MIRT1940228	hsa-miR-4731-3p	CLIP-seq
MIRT1940229	hsa-miR-4753-3p	CLIP-seq
MIRT1940230	hsa-miR-4801	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179110	hsa-miR-4448	CLIP-seq
MIRT2179111	hsa-miR-4694-3p	CLIP-seq
MIRT2179112	hsa-miR-4796-5p	CLIP-seq
MIRT2179113	hsa-miR-1193	CLIP-seq
MIRT2179114	hsa-miR-1271	CLIP-seq
MIRT2179115	hsa-miR-1280	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2179116	hsa-miR-182	CLIP-seq
MIRT2179117	hsa-miR-183	CLIP-seq
MIRT1940225	hsa-miR-216b	CLIP-seq
MIRT2179118	hsa-miR-23a	CLIP-seq
MIRT2179119	hsa-miR-23b	CLIP-seq
MIRT2179120	hsa-miR-23c	CLIP-seq
MIRT2179121	hsa-miR-3134	CLIP-seq
MIRT2179122	hsa-miR-3177-5p	CLIP-seq
MIRT2179123	hsa-miR-323-3p	CLIP-seq
MIRT2179124	hsa-miR-338-5p	CLIP-seq
MIRT2179125	hsa-miR-3941	CLIP-seq
MIRT2179126	hsa-miR-4642	CLIP-seq
MIRT2179127	hsa-miR-466	CLIP-seq
MIRT2179128	hsa-miR-4672	CLIP-seq
MIRT2179111	hsa-miR-4694-3p	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2179130	hsa-miR-4713-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT1940228	hsa-miR-4731-3p	CLIP-seq
MIRT2179112	hsa-miR-4796-5p	CLIP-seq
MIRT1940230	hsa-miR-4801	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179132	hsa-miR-873	CLIP-seq
MIRT2179133	hsa-miR-935	CLIP-seq
MIRT2179134	hsa-miR-96	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2482580	hsa-miR-1178	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2482581	hsa-miR-3909	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179133	hsa-miR-935	CLIP-seq
MIRT2675786	hsa-miR-1247	CLIP-seq
MIRT2179114	hsa-miR-1271	CLIP-seq
MIRT1940223	hsa-miR-146a	CLIP-seq
MIRT1940224	hsa-miR-146b-5p	CLIP-seq
MIRT2179116	hsa-miR-182	CLIP-seq
MIRT2675787	hsa-miR-331-3p	CLIP-seq
MIRT2675788	hsa-miR-3620	CLIP-seq
MIRT2179126	hsa-miR-4642	CLIP-seq
MIRT2179129	hsa-miR-4699-5p	CLIP-seq
MIRT2675789	hsa-miR-4727-5p	CLIP-seq
MIRT2179131	hsa-miR-4728-3p	CLIP-seq
MIRT2675790	hsa-miR-4769-3p	CLIP-seq
MIRT2675791	hsa-miR-5096	CLIP-seq
MIRT2675792	hsa-miR-544	CLIP-seq
MIRT1940231	hsa-miR-589	CLIP-seq
MIRT2179134	hsa-miR-96	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	ISS
GO:0003682	Function	Chromatin binding	IDA	25519132
GO:0005515	Function	Protein binding	IPI	25519132, 27705803, 28514442, 32296183, 33961781, 34637754
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	ISS
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0035022	Process	Positive regulation of Rac protein signal transduction	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	25519132
GO:0048675	Process	Axon extension	ISS
GO:0097484	Process	Dendrite extension	ISS

MIM	HGNC	e!Ensembl
607270	14262	ENSG00000158321

Q8WXX7

Protein name

Autism susceptibility gene 2 protein

Protein function

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remod

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15336	Auts2	645 → 857	Autism susceptibility gene 2 protein	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes. {ECO:0000269|PubMed:12160723, ECO:0000269|PubMed:23332918}.

Sequence

MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNG
KPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVALKPQERVEKRQTP
LTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQN
SCRDSDSESASGESKGFHRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKASDASSEKLF
NTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCP
QVAQPIPQPQTEPQLRAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQR
PPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPP
HISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVA
GHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQ
HTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPF
GSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQI
YHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHP
TGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSMFGHKDG
PSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKD
DKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSES
RKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSR
EAEPRKGEPAYENPKKSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLA
SMPMTVGVTGIHPMNSISSLDRTRMMTPFMGISPLPGGERFPYPSFHWDPIRDPLRDPYR
ELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLSVDPR
REHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPT
AGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRERPPSHTLKDIEAR

Sequence length

1259

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

297

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs2484638564	RCV003127400
Autism spectrum disorder due to AUTS2 deficiency	Pathogenic; Likely pathogenic	rs1792258600, rs1383001370, rs2129067294, rs2129556993, rs2129540475, rs2129540473, rs2129559195, rs2129558877, rs2484905405, rs2484684324, rs2484642297, rs864321694, rs869312878, rs1348011365, rs2484637496 View all (24 more)	RCV001336298 RCV001788502 RCV001528177 RCV003336430 RCV001780715 RCV001784118 RCV001813923 RCV002074456 RCV002287633 RCV002291073 RCV002472101 RCV000203570 RCV000209947 RCV003123341 RCV003127401 RCV003128537 RCV003153054 RCV003223549 RCV003315382 RCV003326212 RCV003482494 RCV003883293 RCV004578009 RCV001706624 RCV001841277 RCV000677402 RCV005253029 RCV001199170 RCV000677397 RCV000708594 RCV003224878 RCV000779651 RCV000824999 RCV000987898 RCV000995502 RCV000995503 RCV001027682 RCV001090150 RCV001270382
AUTS2-related disorder	Likely pathogenic; Pathogenic	rs2484637496, rs2484667150, rs2484683408	RCV003395701 RCV003405760 RCV003408388
Congenital cerebellar hypoplasia	Likely pathogenic	rs1563183469	RCV001257949
Corpus callosum, agenesis of	Likely pathogenic	rs1563183469	RCV000779651
Developmental disorder	Pathogenic	rs2484634380	RCV003128035
Intellectual disability	Pathogenic; Likely pathogenic	rs1057517708, rs1789811451	RCV001260885 RCV001249492
Intellectual disability, autosomal dominant 57	Likely pathogenic; Pathogenic	rs1562957809	RCV002227495
Multiple congenital anomalies	Likely pathogenic	rs1563183469	RCV000779651
Pierre Robin-like syndrome	Likely pathogenic	rs1057518986	RCV000415119

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
15q11q13 microduplication syndrome	Uncertain significance	rs1057522609	RCV000678333
Acute myeloid leukemia	Likely benign	rs146678594	RCV005916341
Autism	Conflicting classifications of pathogenicity	rs538005366	RCV000415240
concomitant exotropia	Benign; Likely benign	rs141599415	RCV004731049
Familial cancer of breast	Likely benign	rs146678594	RCV005916340
Gastric cancer	Likely benign; Benign	rs146678594, rs3750174	RCV005916344 RCV005907015
Global developmental delay	Uncertain significance; Conflicting classifications of pathogenicity	rs2129547444, rs538005366	RCV001527622 RCV000415240
Lung cancer	Likely benign	rs146678594	RCV005916348
Lymphoma	Likely benign	rs146678594	RCV005916345
Malignant tumor of esophagus	Likely benign; Benign	rs144577131, rs3750174	RCV005917491 RCV005907013
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity	rs1789934246	RCV001264706
Ovarian cancer	Likely benign	rs146678594	RCV005916342
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs146678594, rs144577131, rs3750174	RCV005916346 RCV005917492 RCV005907016
Sarcoma	Likely benign; Benign	rs146678594, rs3750174	RCV005916343 RCV005907014
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs1051952947, rs772666638, rs2129561775, rs2484975097, rs1789934246	RCV001420192 RCV002253005 RCV002252396 RCV003985629 RCV001420233
Syndromic intellectual disability	Conflicting classifications of pathogenicity	rs540878144	RCV005356486
Thymoma	Likely benign; Uncertain significance	rs146678594, rs1272659885	RCV005916347 RCV005926674
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	rs146678594, rs771663725	RCV005916349 RCV005920725

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	22521361
Agenesis of Corpus Callosum	Associate	33562463
Apraxias	Associate	40419990
Arthrogryposis	Associate	39953909
Atrioventricular Septal Defect	Associate	27396555
Attention Deficit Disorder with Hyperactivity	Associate	19546859
Autism Spectrum Disorder	Associate	22872102, 36864756
Autistic Disorder	Associate	19546859, 22521361, 23575222, 24265791, 24776741, 25205402, 25347278, 30190612, 31505389, 37948839, 39953909
Autoimmune Diseases	Associate	19727120
Autosomal Recessive Primary Microcephaly	Associate	35802027
Bipolar Disorder	Associate	34282735, 40419990
Carcinoma Renal Cell	Associate	29215599
Cardiomyopathy Hypertrophic	Associate	36499607
Central Nervous System Vascular Malformations	Associate	35802027
Chromosome Aberrations	Associate	22521361
Colitis Ulcerative	Associate	38274809
Craniofacial Abnormalities	Associate	33562463
Craniosynostoses	Associate	39953909
Depressive Disorder Major	Associate	34282735
Developmental Disabilities	Associate	20502679, 22872102, 31505389, 33562463, 37816306, 39174599
Down Syndrome	Associate	27396555
Exotropia	Associate	39773702
Genetic Diseases Inborn	Associate	37816306
Growth Disorders	Associate	39174599
Hearing Loss Noise Induced	Associate	33242228
Heroin Dependence	Associate	25347278
Hirschsprung Disease	Associate	29377512
Hyperkinesis	Associate	37816306
Hypersensitivity Delayed	Associate	36864756
Hypoxia	Inhibit	29215599
Inflammation	Associate	38274809
Intellectual Disability	Associate	24265791, 35802027, 37816306, 37948839, 39174599
Kidney Neoplasms	Associate	29215599
Language Disorders	Associate	33562463
Leukemia T Cell	Associate	27322685
Lymphedema and Cerebral Arteriovenous Anomaly	Associate	33562463
Lymphoma B Cell	Associate	29166413
Medulloblastoma	Associate	36273157
Mental Disorders	Associate	37816306, 39953909
Microcephaly	Associate	35802027, 37948839, 39174599, 39953909
Neoplasms	Associate	36273157
Nervous System Diseases	Associate	35802027
Neurodegenerative Diseases	Associate	35802027
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	27322685
Psychotic Disorders	Associate	19567891
Retrognathia	Associate	39953909
Schizophrenia	Associate	19546859, 25347278, 34282735
Seizures	Associate	22872102
Sexual Dysfunctions Psychological	Associate	37816306
Speech Disorders	Associate	33562463
Spinocerebellar Ataxia 29	Associate	33562463
Stiff Skin Syndrome	Associate	39953909
Thyroid Cancer Papillary	Associate	37733241
Tourette Syndrome	Associate	19546859
Vitiligo	Associate	19727120
Williams Syndrome	Associate	24265791, 32077592

AUTS2 (activator of transcription and developmental regulator AUTS2)