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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. | Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin. | Lace B, etal., Eur J Oral Sci. 2011 Dec;119(6):413-7. doi: 10.1111/j.1600-0722.2011.00877.x. Epub 2011 Oct 15. |
| 3. | Identification of an enhancer sequence within the first intron required for cartilage-specific transcription of the alpha2(XI) collagen gene. | Liu Y, etal., J Biol Chem 2000 Apr 28;275(17):12712-8. |
| 4. | Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. | Melkoniemi M, etal., Am J Hum Genet. 2000 Feb;66(2):368-77. |
| 5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 6. | Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. | Nikopensius T, etal., Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):748-56. doi: 10.1002/bdra.20700. |
| 7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 8. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 9. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 12. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 13. | Immature osteoblastic cells express the pro-alpha2(XI) collagen gene during bone formation in vitro and in vivo. | Urabe K, etal., J Orthop Res 2001 Nov;19(6):1013-20. |
| 14. | Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. | Vikkula M, etal., Cell. 1995 Feb 10;80(3):431-7. |
| PMID:8662089 | PMID:9188673 | PMID:10581026 | PMID:11237662 | PMID:11668593 | PMID:12673280 | PMID:16033917 | PMID:17683922 |
| Col11a2 (Rattus norvegicus - Norway rat) |
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| COL11A2 (Homo sapiens - human) |
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| Col11a2 (Mus musculus - house mouse) |
|
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| Col11a2 (Chinchilla lanigera - long-tailed chinchilla) |
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| COL11A2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| COL11A2 (Canis lupus familiaris - dog) |
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| Col11a2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| COL11A2 (Sus scrofa - pig) |
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| COL11A2 (Chlorocebus sabaeus - green monkey) |
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| Col11a2 (Heterocephalus glaber - naked mole-rat) |
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| Col11a2 (Rattus rattus - black rat) |
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.
Variants in Col11a2
332 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. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D20Yum79 |
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| UniSTS:237626 |
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| UniSTS:463405 |
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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 | 162 | 91 | 90 | 59 | 91 | 59 | 6 | 354 | 191 | 11 | 141 | 80 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001401302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_212528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006255929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039098499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039098500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005497184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC098547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BX883042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X95873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000045533 ⟹ ENSRNOP00000048846 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000084117 ⟹ ENSRNOP00000071327 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000085547 ⟹ ENSRNOP00000073041 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000092329 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000104091 ⟹ ENSRNOP00000079082 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000107648 ⟹ ENSRNOP00000082947 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000112730 ⟹ ENSRNOP00000097357 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000115128 ⟹ ENSRNOP00000080979 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000120229 ⟹ ENSRNOP00000086235 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000171964 ⟹ ENSRNOP00000111025 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000173481 ⟹ ENSRNOP00000110587 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001401302 ⟹ NP_001388231 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_212528 ⟹ NP_997693 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_006255929 ⟹ XP_006255991 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_017601580 ⟹ XP_017457069 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_017601581 ⟹ XP_017457070 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_017601582 ⟹ XP_017457071 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_017601583 ⟹ XP_017457072 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_017601584 ⟹ XP_017457073 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_017601585 ⟹ XP_017457074 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_039098499 ⟹ XP_038954427 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039098500 ⟹ XP_038954428 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063279020 ⟹ XP_063135090 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_005497184 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
|
| Protein RefSeqs | NP_001388231 | (Get FASTA) | NCBI Sequence Viewer |
| NP_997693 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006255991 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457069 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457070 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457071 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457072 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457073 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457074 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038954427 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038954428 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135090 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | CAE83934 | (Get FASTA) | NCBI Sequence Viewer |
| EDL96822 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000048846.5 | ||
| ENSRNOP00000071327 | |||
| ENSRNOP00000071327.2 | |||
| ENSRNOP00000073041 | |||
| ENSRNOP00000073041.2 | |||
| ENSRNOP00000079082.1 | |||
| ENSRNOP00000080979.1 | |||
| ENSRNOP00000082947.1 | |||
| ENSRNOP00000086235.1 | |||
| ENSRNOP00000097357.1 | |||
| ENSRNOP00000110587.1 | |||
| ENSRNOP00000111025 | |||
| ENSRNOP00000111025.1 |
| RefSeq Acc Id: | NP_997693 ⟸ NM_212528 |
| - Peptide Label: | isoform 2 precursor |
| - UniProtKB: | A6JJF6 (UniProtKB/TrEMBL), Q6MGB2 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006255991 ⟸ XM_006255929 |
| - Peptide Label: | isoform X9 |
| - UniProtKB: | A6JJF6 (UniProtKB/TrEMBL), F6T0B3 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457069 ⟸ XM_017601580 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I5ZM36 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457071 ⟸ XM_017601582 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A8I5ZR92 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457074 ⟸ XM_017601585 |
| - Peptide Label: | isoform X8 |
| - UniProtKB: | A6JJF6 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457070 ⟸ XM_017601581 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A8I5ZM36 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457072 ⟸ XM_017601583 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | A0A8I5ZR92 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457073 ⟸ XM_017601584 |
| - Peptide Label: | isoform X7 |
| - UniProtKB: | A0A8I6A1U6 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000048846 ⟸ ENSRNOT00000045533 |
| Ensembl Acc Id: | ENSRNOP00000073041 ⟸ ENSRNOT00000085547 |
| Ensembl Acc Id: | ENSRNOP00000071327 ⟸ ENSRNOT00000084117 |
| RefSeq Acc Id: | XP_038954427 ⟸ XM_039098499 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I5ZM36 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038954428 ⟸ XM_039098500 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | A0A8I5ZM36 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000080979 ⟸ ENSRNOT00000115128 |
| Ensembl Acc Id: | ENSRNOP00000082947 ⟸ ENSRNOT00000107648 |
| Ensembl Acc Id: | ENSRNOP00000086235 ⟸ ENSRNOT00000120229 |
| Ensembl Acc Id: | ENSRNOP00000097357 ⟸ ENSRNOT00000112730 |
| Ensembl Acc Id: | ENSRNOP00000079082 ⟸ ENSRNOT00000104091 |
| RefSeq Acc Id: | NP_001388231 ⟸ NM_001401302 |
| - Peptide Label: | isoform 1 precursor |
| - UniProtKB: | A0A8I5ZM36 (UniProtKB/TrEMBL), A0A0G2K069 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063135090 ⟸ XM_063279020 |
| - Peptide Label: | isoform X10 |
| Ensembl Acc Id: | ENSRNOP00000110587 ⟸ ENSRNOT00000173481 |
| Ensembl Acc Id: | ENSRNOP00000111025 ⟸ ENSRNOT00000171964 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-F6T0B3-F1-model_v2 | AlphaFold | F6T0B3 | 1-1650 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701321 | ||||||||
| Promoter ID: | EPDNEW_R11842 | ||||||||
| Type: | single initiation site | ||||||||
| Name: | Col11a2_1 | ||||||||
| Description: | collagen type XI alpha 2 chain | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:2373 | AgrOrtholog |
| BioCyc Gene | G2FUF-4544 | BioCyc |
| Ensembl Genes | ENSRNOG00000000463 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| ENSRNOG00000061939 | Ensembl | |
| Ensembl Transcript | ENSRNOT00000045533.5 | UniProtKB/TrEMBL |
| ENSRNOT00000084117 | ENTREZGENE | |
| ENSRNOT00000084117.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000085547 | ENTREZGENE | |
| ENSRNOT00000085547.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000104091.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000107648.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000112730.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000115128.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000120229.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000171964 | ENTREZGENE | |
| ENSRNOT00000171964.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000173481.1 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.120.1000 | UniProtKB/TrEMBL |
| 2.60.120.200 | UniProtKB/TrEMBL | |
| InterPro | Collagen | UniProtKB/TrEMBL |
| Collagen_Structural_Proteins | UniProtKB/TrEMBL | |
| Collagen_superfamily | UniProtKB/TrEMBL | |
| ConA-like_subgrp | UniProtKB/TrEMBL | |
| Fib_collagen_C | UniProtKB/TrEMBL | |
| Laminin_G | UniProtKB/TrEMBL | |
| TSPN-like_N | UniProtKB/TrEMBL | |
| NCBI Gene | Col11a2 | ENTREZGENE |
| PANTHER | COL_CUTICLE_N DOMAIN-CONTAINING PROTEIN-RELATED | UniProtKB/TrEMBL |
| COLLAGEN | UniProtKB/TrEMBL | |
| COLLAGEN ALPHA | UniProtKB/TrEMBL | |
| COLLAGEN ALPHA-1(X) CHAIN | UniProtKB/TrEMBL | |
| COLLAGEN ALPHA-1(XXIII) CHAIN-LIKE ISOFORM X2 | UniProtKB/TrEMBL | |
| COLLAGEN TYPE III, PUTATIVE-RELATED | UniProtKB/TrEMBL | |
| COLLAGEN TYPE IX ALPHA 1 CHAIN | UniProtKB/TrEMBL | |
| SI:CH211-266K2.1 | UniProtKB/TrEMBL | |
| Pfam | COLFI | UniProtKB/TrEMBL |
| Collagen | UniProtKB/TrEMBL | |
| Laminin_G_2 | UniProtKB/TrEMBL | |
| PhenoGen | Col11a2 | PhenoGen |
| PROSITE | NC1_FIB | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000000463 | RatGTEx |
| ENSRNOG00000061939 | RatGTEx | |
| SMART | COLFI | UniProtKB/TrEMBL |
| LamG | UniProtKB/TrEMBL | |
| TSPN | UniProtKB/TrEMBL | |
| Superfamily-SCOP | ConA_like_lec_gl | UniProtKB/TrEMBL |
| UniProt | A0A0G2K069 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A0G2K4H1_RAT | UniProtKB/TrEMBL | |
| A0A8I5ZM36 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I5ZR92 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I5ZY93_RAT | UniProtKB/TrEMBL | |
| A0A8I6A1U6 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6AUU9_RAT | UniProtKB/TrEMBL | |
| A0ABK0LY77_RAT | UniProtKB/TrEMBL | |
| A0ABK0M6S3_RAT | UniProtKB/TrEMBL | |
| A6JJF6 | ENTREZGENE, UniProtKB/TrEMBL | |
| F6T0B3 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q6MGB2 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2021-03-09 | Col11a2 | collagen type XI alpha 2 chain | LOC100911886 | collagen alpha-2(XI) chain-like | Data merged from RGD:6490199 | 737654 | PROVISIONAL |
| 2016-07-27 | Col11a2 | collagen type XI alpha 2 chain | Col11a2 | collagen, type XI, alpha 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-07-05 | LOC100911886 | collagen alpha-2(XI) chain-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2008-04-25 | Col11a2 | collagen, type XI, alpha 2 | Col11a2 | procollagen, type XI, alpha 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2007-03-29 | Col11a2 | procollagen, type XI, alpha 2 | Col11a2_mapped | procollagen, type XI, alpha 2 (mapped) | Symbol and Name updated | 1299863 | APPROVED |
| 2007-03-29 | Col11a2_mapped | procollagen, type XI, alpha 2 (mapped) | Col11a2_retired | procollagen, type XI, alpha 2 (mapped) | Data merged from RGD:1593281 | 737654 | APPROVED |
| 2007-03-29 | Col11a2_retired | Col11a2 | procollagen, type XI, alpha 2 (mapped) | Symbol updated | 1299863 | PROVISIONAL | |
| 2006-11-20 | Col11a2 | procollagen, type XI, alpha 2 (mapped) | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2005-11-17 | Col11a2_mapped | procollagen, type XI, alpha 2 (mapped) | Col11a2 | procollagen, type XI, alpha 2 | Symbol and Name updated | 1556543 | APPROVED |
| 2002-11-06 | Col11a2 | procollagen, type XI, alpha 2 | Type XI collagen, alpha2 chain | Name updated | 625702 | APPROVED | |
| 2002-06-10 | Col11a2 | Type XI collagen, alpha2 chain | Symbol and Name status set to approved | 70586 | APPROVED |