Version 5.4
| 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 |
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| 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 | |||||||||||||||||||
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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 | ||||||||||||||||||