Homo sapiens Gene: AUTS2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-19010.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | AUTS2 | ||||||||||||||||||
Gene Name | autism susceptibility candidate 2 | ||||||||||||||||||
Synonyms | FBRSL2; MRD26 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000158321 | ||||||||||||||||||
Encoded Proteins |
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
autism susceptibility candidate 2
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
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-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 7:69598919-70793068 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q11.22 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||
SwissProt | Q8WXX7 | ||||||||||||||||||
TrEMBL | A0A024RDL5 H7BZZ9 L7QET3 L7QF75 Q75MD7 Q75MQ3 Q75MQ4 Q75MQ7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 26053 | ||||||||||||||||||
UniGene | Hs.21631 Hs.613877 | ||||||||||||||||||
RefSeq | NM_001127231 NM_001127232 NM_015570 XM_005250257 | ||||||||||||||||||
HUGO | HGNC:14262 | ||||||||||||||||||
OMIM | 607270 | ||||||||||||||||||
CCDS | CCDS47601 CCDS47602 CCDS5539 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB007902 AC004773 AC004881 AC004927 AC006012 AC006317 AC006318 AC006319 AC006361 AC073148 AC073873 AC093487 AC093679 AC093685 AF326917 BC011643 BC064693 CH236952 CH471140 JQ670866 JQ670867 | ||||||||||||||||||
GenPept | AAH11643 AAH64693 AAL37411 AAS00369 AAS00371 AAS02044 AAS07468 AFY24235 AFY24236 BAA23714 EAL23968 EAX07895 EAX07896 | ||||||||||||||||||
RNA Seq Atlas | 26053 | ||||||||||||||||||