• Gene id: 26053

Gene Summary

• Gene Symbol: AUTS2   Gene   UCSC   Ensembl
• Aliases: FBRSL2, MRD26
• Gene name: activator of transcription and developmental regulator AUTS2
• Alternate names: autism susceptibility gene 2 protein, AUTS2, activator of transcription and developmental regulator, autism susceptibility candidate 2, autism-related protein 1,
• Gene location: 7q11.22 (69598474: 70793505)     Exons: 23     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 607270

Protein Summary

• Protein general information: Q8WXX7  
  • Name: Autism susceptibility gene 2 protein
  • Length: 1259  
  • Mass: 138982
  • Tissue specificity: Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes. {ECO
• Sequence:

  MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRR
  KRRESTSAEEDIIDGFAMTSFVTFEALEKDVALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSS
  DRENDRNLCQHLGKRKKMPKALRQLKPGQNSCRDSDSESASGESKGFHRSSSRERLSDSSAPSSLGTGYFCDSDS
  DQEEKASDASSEKLFNTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCP
  QVAQPIPQPQTEPQLRAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNL
  PPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQP
  PAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFH
  QHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPF
  GSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDP
  HKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTF
  TGLAAVGGNAFGGLGNPSVTPNSMFGHKDGPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHD
  RDRDVDKRDSSVSKDDKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSES
  RKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSREAEPRKGEPAYENPK
  KSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRTRMMTPFM
  GISPLPGGERFPYPSFHWDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYS
  HHHHHHHHPLSVDPRREHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPT
  AGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRERPPSHTLKDIEAR

• Structural information:
  • Interpro: IPR023246  
  • DIP: 61355
  • STRING: ENSP00000344087
• Other Databases: GeneCards:  AUTS2  Malacards:  AUTS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015629	actin cytoskeleton	ISS	colocalizes with
GO:0048675	axon extension	ISS	biological process
GO:0035022	positive regulation of Rac protein signal transduction	ISS	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0030426	growth cone	ISS	cellular component
GO:0097484	dendrite extension	ISS	biological process
GO:0031532	actin cytoskeleton reorganization	ISS	biological process
GO:0010592	positive regulation of lamellipodium assembly	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051571	positive regulation of histone H3-K4 methylation	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:2000620	positive regulation of histone H4-K16 acetylation	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray