Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Smarcc2 | Rat | Coffin-Siris syndrome 8 | | ISO | SMARCC2 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Smarcc2 | Rat | Coffin-Siris syndrome 8 | | ISO | SMARCC2 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | REST repression of neuronal genes requires components of the hSWI.SNF complex. | Battaglioli E, etal., J Biol Chem. 2002 Oct 25;277(43):41038-45. Epub 2002 Aug 20. |
| 2. | 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. |
| 3. | ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. | Hargreaves DC and Crabtree GR, Cell Res. 2011 Mar;21(3):396-420. doi: 10.1038/cr.2011.32. Epub 2011 Mar 1. |
| 4. | GOA pipeline | RGD automated data pipeline |
| 5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 7. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 8. | The spectrum of SWI/SNF mutations, ubiquitous in human cancers. | Shain AH and Pollack JR, PLoS One. 2013;8(1):e55119. doi: 10.1371/journal.pone.0055119. Epub 2013 Jan 23. |
| 9. | Purification and biochemical heterogeneity of the mammalian SWI-SNF complex. | Wang W, etal., EMBO J. 1996 Oct 1;15(19):5370-82. |
| PMID:8804307 | PMID:10078207 | PMID:11018012 | PMID:11078522 | PMID:11726552 | PMID:12368262 | PMID:16217013 | PMID:17640523 | PMID:23643363 | PMID:23785148 | PMID:24335282 | PMID:26514267 |
| PMID:28131823 | PMID:31505169 |
| Smarcc2 (Rattus norvegicus - Norway rat) |
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| SMARCC2 (Homo sapiens - human) |
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| Smarcc2 (Mus musculus - house mouse) |
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| Smarcc2 (Chinchilla lanigera - long-tailed chinchilla) |
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| SMARCC2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SMARCC2 (Canis lupus familiaris - dog) |
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| Smarcc2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SMARCC2 (Sus scrofa - pig) |
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| SMARCC2 (Chlorocebus sabaeus - green monkey) |
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| Smarcc2 (Heterocephalus glaber - naked mole-rat) |
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| Smarcc2 (Rattus rattus - black rat) |
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Variants in Smarcc2
96 total Variants
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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 |
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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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integumental 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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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001427252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_001055673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_001055738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_001055795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006240805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006240806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006240807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017595139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017603329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039079999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039080000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC128207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000028244 ⟹ ENSRNOP00000028244 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000097786 ⟹ ENSRNOP00000091991 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000100913 ⟹ ENSRNOP00000086212 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001427252 ⟹ NP_001414181 | ||||||||
| RefSeq Status: | VALIDATED | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_001055673 ⟹ XP_001055673 | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_001055738 ⟹ XP_001055738 | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_001055795 ⟹ XP_001055795 | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006240805 ⟹ XP_006240867 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006240806 ⟹ XP_006240868 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006240807 ⟹ XP_006240869 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039079999 ⟹ XP_038935927 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039080000 ⟹ XP_038935928 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264254 ⟹ XP_063120324 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264255 ⟹ XP_063120325 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264256 ⟹ XP_063120326 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001414181 | (Get FASTA) | NCBI Sequence Viewer |
| XP_001055673 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_001055738 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_001055795 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006240867 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006240868 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006240869 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038935927 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038935928 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120324 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120325 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120326 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000028244 | ||
| ENSRNOP00000028244.9 | |||
| ENSRNOP00000091991 | |||
| ENSRNOP00000091991.2 |
| RefSeq Acc Id: | XP_001055673 ⟸ XM_001055673 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_001055795 ⟸ XM_001055795 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A8I6AGR8 (UniProtKB/TrEMBL), D4A510 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_001055738 ⟸ XM_001055738 |
| - Peptide Label: | isoform X10 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006240867 ⟸ XM_006240805 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006240868 ⟸ XM_006240806 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006240869 ⟸ XM_006240807 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000028244 ⟸ ENSRNOT00000028244 |
| RefSeq Acc Id: | XP_038935927 ⟸ XM_039079999 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038935928 ⟸ XM_039080000 |
| - Peptide Label: | isoform X8 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000091991 ⟸ ENSRNOT00000097786 |
| Ensembl Acc Id: | ENSRNOP00000086212 ⟸ ENSRNOT00000100913 |
| RefSeq Acc Id: | XP_063120324 ⟸ XM_063264254 |
| - Peptide Label: | isoform X7 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063120325 ⟸ XM_063264255 |
| - Peptide Label: | isoform X9 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063120326 ⟸ XM_063264256 |
| - Peptide Label: | isoform X11 |
| - UniProtKB: | D4A510 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | NP_001414181 ⟸ NM_001427252 |
| - UniProtKB: | A0A8I6A5E1 (UniProtKB/TrEMBL), D4A510 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D4A510-F1-model_v2 | AlphaFold | D4A510 | 1-1135 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13694941 | ||||||||
| Promoter ID: | EPDNEW_R5463 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Smarcc2_1 | ||||||||
| Description: | SWI/SNF related, matrix associated, actin dependent regulatorof chromatin, subfamily c, member 2 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1597704 | AgrOrtholog |
| BioCyc Gene | G2FUF-35365 | BioCyc |
| Ensembl Genes | ENSRNOG00000031135 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000028244 | ENTREZGENE |
| ENSRNOT00000028244.9 | UniProtKB/TrEMBL | |
| ENSRNOT00000097786 | ENTREZGENE | |
| ENSRNOT00000097786.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.10.10 | UniProtKB/TrEMBL |
| Homeodomain-like | UniProtKB/TrEMBL | |
| InterPro | BRCT_dom_sf | UniProtKB/TrEMBL |
| Chromodomain | UniProtKB/TrEMBL | |
| Homeodomain-like | UniProtKB/TrEMBL | |
| MARR_BRCT_CHROMO | UniProtKB/TrEMBL | |
| SANT_DNA-bd | UniProtKB/TrEMBL | |
| SANT_eukarya | UniProtKB/TrEMBL | |
| SMARCC_C | UniProtKB/TrEMBL | |
| SMARCC_N | UniProtKB/TrEMBL | |
| SWIRM | UniProtKB/TrEMBL | |
| SWIRM-assoc | UniProtKB/TrEMBL | |
| WH-like_DNA-bd_sf | UniProtKB/TrEMBL | |
| NCBI Gene | 685179 | ENTREZGENE |
| PANTHER | CHONDROITIN SULFATE PROTEOGLYCAN 5 | UniProtKB/TrEMBL |
| CHONDROITIN SULFATE PROTEOGLYCAN 5 -RELATED | UniProtKB/TrEMBL | |
| Pfam | Myb_DNA-binding | UniProtKB/TrEMBL |
| SWIRM | UniProtKB/TrEMBL | |
| SWIRM-assoc_1 | UniProtKB/TrEMBL | |
| SWIRM-assoc_2 | UniProtKB/TrEMBL | |
| SWIRM-assoc_3 | UniProtKB/TrEMBL | |
| PhenoGen | Smarcc2 | PhenoGen |
| PROSITE | MARR_BRCT_CHROMO | UniProtKB/TrEMBL |
| MYB_LIKE | UniProtKB/TrEMBL | |
| SANT | UniProtKB/TrEMBL | |
| SWIRM | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000031135 | RatGTEx |
| SMART | CHROMO | UniProtKB/TrEMBL |
| SANT | UniProtKB/TrEMBL | |
| Superfamily-SCOP | BRCT | UniProtKB/TrEMBL |
| Homeodomain_like | UniProtKB/TrEMBL | |
| UniProt | A0A8I6A5E1 | ENTREZGENE |
| A0A8I6AGR8 | ENTREZGENE, UniProtKB/TrEMBL | |
| D4A510 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2024-11-08 | Smarcc2 | SWI/SNF related BAF chromatin remodeling complex subunit C2 | Smarcc2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2010-04-21 | Smarcc2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | LOC685179 | similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin c2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-11-20 | LOC685179 | similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin c2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |