Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aff2 | Rat | fragile X syndrome | | ISO | AFF2 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aff2 | Rat | fragile X syndrome | | ISO | AFF2 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | Comprehensive gene review and curation | RGD comprehensive gene curation |
Aff2 (Rattus norvegicus - Norway rat) |
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AFF2 (Homo sapiens - human) |
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Aff2 (Mus musculus - house mouse) |
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Aff2 (Chinchilla lanigera - long-tailed chinchilla) |
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AFF2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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AFF2 (Canis lupus familiaris - dog) |
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Aff2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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AFF2 (Sus scrofa - pig) |
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AFF2 (Chlorocebus sabaeus - green monkey) |
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Aff2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Aff2
544 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH131095 |
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RH137656 |
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AU049694 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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2 | 10 | 43 | 82 | 53 | 56 | 37 | 19 | 37 | 153 | 72 | 74 | 34 | 41 | 19 |
RefSeq Transcripts | NM_001427288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006229538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006229539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017602424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH474085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000087990 ⟹ ENSRNOP00000072039 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001427288 ⟹ NP_001414217 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_006229538 ⟹ XP_006229600 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006229539 ⟹ XP_006229601 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017602424 ⟹ XP_017457913 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039100404 ⟹ XP_038956332 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039100405 ⟹ XP_038956333 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001414217 | (Get FASTA) | NCBI Sequence Viewer |
XP_006229600 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006229601 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017457913 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956332 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956333 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL84461 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000072039.2 |
RefSeq Acc Id: | XP_006229601 ⟸ XM_006229539 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A6KQ91 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006229600 ⟸ XM_006229538 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A6KQ91 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017457913 ⟸ XM_017602424 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6KQ91 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_038956332 ⟸ XM_039100404 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038956333 ⟸ XM_039100405 |
- Peptide Label: | isoform X5 |
Ensembl Acc Id: | ENSRNOP00000072039 ⟸ ENSRNOT00000087990 |
RefSeq Acc Id: | NP_001414217 ⟸ NM_001427288 |
- UniProtKB: | A0A0G2K1Y9 (UniProtKB/TrEMBL), A6KQ91 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A0A0G2KA99-F1-model_v2 | AlphaFold | A0A0G2KA99 | 1-1281 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1565592 | AgrOrtholog |
BioCyc Gene | G2FUF-736 | BioCyc |
Ensembl Genes | ENSRNOG00000052572 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000087990.2 | UniProtKB/TrEMBL |
Gene3D-CATH | 6.10.250.2670 | UniProtKB/TrEMBL |
InterPro | AF4/FMR2_C | UniProtKB/TrEMBL |
AF4_int | UniProtKB/TrEMBL | |
TF_AF4/FMR2 | UniProtKB/TrEMBL | |
NCBI Gene | 293922 | ENTREZGENE |
PANTHER | AF-4 | UniProtKB/TrEMBL |
AF4/FMR2 FAMILY MEMBER 2 | UniProtKB/TrEMBL | |
Pfam | AF-4 | UniProtKB/TrEMBL |
AF-4_C | UniProtKB/TrEMBL | |
AF4_int | UniProtKB/TrEMBL | |
PhenoGen | Aff2 | PhenoGen |
RatGTEx | ENSRNOG00000052572 | RatGTEx |
UniProt | A0A0G2K1Y9 | ENTREZGENE, UniProtKB/TrEMBL |
A6KQ91 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2022-07-05 | Aff2 | ALF transcription elongation factor 2 | Aff2 | AF4/FMR2 family, member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | Aff2 | AF4/FMR2 family, member 2 | Aff2_predicted | AF4/FMR2 family, member 2 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-03-30 | Aff2_predicted | AF4/FMR2 family, member 2 (predicted) | RGD1565592_predicted | similar to FMR2 protein (predicted) | Symbol and Name updated | 1299863 | APPROVED |
2006-03-07 | RGD1565592_predicted | similar to FMR2 protein (predicted) | LOC293922 | similar to FMR2 protein | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC293922 | similar to FMR2 protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |