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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| Aff2 (Rattus rattus - black rat) |
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| 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. |
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| 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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musculoskeletal system
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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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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 5 | 11 | 61 | 124 | 53 | 56 | 37 | 23 | 37 | 212 | 104 | 11 | 115 | 58 | 73 | 19 | 14 | 14 |
| 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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| Ensembl Acc Id: | ENSRNOT00000161102 ⟹ ENSRNOP00000103733 | ||||||||
| 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 | ||
| ENSRNOP00000072039.3 | |||
| ENSRNOP00000103733 | |||
| ENSRNOP00000103733.1 |
| 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) |
| Ensembl Acc Id: | ENSRNOP00000103733 ⟸ ENSRNOT00000161102 |
| 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, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000087990 | ENTREZGENE |
| ENSRNOT00000087990.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000161102 | ENTREZGENE | |
| ENSRNOT00000161102.1 | 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 |
| A0ABK0LJN0_RAT | UniProtKB/TrEMBL | |
| A6KQ91 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 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 |