Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | BTC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | BTC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology | An JZ, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2005 May;21(3):284-6. |
2. | Purification and molecular characterization of recombinant rat betacellulin. | Dunbar AJ, etal., J Mol Endocrinol. 2001 Oct;27(2):239-47. |
3. | 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. |
4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
5. | Betacellulin promotes growth of the gastrointestinal organs and effects a diuresis in normal rats. | Howarth GS, etal., Growth Factors. 2003 Jun;21(2):79-86. |
6. | Cloning of rat betacellulin and characterization of its expression in the gastrointestinal tract. | Kallincos NC, etal., Growth Factors 2000;18(3):203-13. |
7. | Genomic structure and promoter characterization of the gene encoding the ErbB ligand betacellulin. | Lawson J, etal., Biochim Biophys Acta 2002 Jun 7;1576(1-2):183-90. |
8. | Activin A and betacellulin: effect on regeneration of pancreatic beta-cells in neonatal streptozotocin-treated rats. | Li L, etal., Diabetes 2004 Mar;53(3):608-15. |
9. | Coexpression of Pdx1 and betacellulin in mesenchymal stem cells could promote the differentiation of nestin-positive epithelium-like progenitors and pancreatic islet-like spheroids. | Li L, etal., Stem Cells Dev. 2008 Aug;17(4):815-23. |
10. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
11. | Immunohistochemical localization of betacellulin, a new member of the EGF family, in normal human pancreas and islet tumor cells. | Miyagawa J, etal., Endocr J. 1999 Dec;46(6):755-64. |
12. | A functional variant in the human betacellulin gene promoter is associated with type 2 diabetes. | Nakano Y, etal., Diabetes. 2005 Dec;54(12):3560-6. |
13. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
14. | Growth factors and their receptors in the middle ear mucosa during otitis media. | Palacios SD, etal., Laryngoscope. 2002 Mar;112(3):420-3. |
15. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
16. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
17. | GOA pipeline | RGD automated data pipeline |
18. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
19. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
20. | Comprehensive gene review and curation | RGD comprehensive gene curation |
21. | Remission of diabetes by beta-cell regeneration in diabetic mice treated with a recombinant adenovirus expressing betacellulin. | Shin S, etal., Mol Ther. 2008 May;16(5):854-61. Epub 2008 Mar 18. |
22. | The exon 1 Cys7Gly polymorphism within the betacellulin gene is associated with type 2 diabetes in African Americans. | Silver K, etal., Diabetes. 2005 Apr;54(4):1179-84. |
23. | Association of a polymorphism in the betacellulin gene with type 1 diabetes mellitus in two populations. | Silver KD, etal., J Mol Med. 2006 Jul;84(7):616-23. Epub 2006 May 9. |
24. | Autocrine, paracrine and juxtacrine signaling by EGFR ligands. | Singh AB and Harris RC, Cell Signal. 2005 Oct;17(10):1183-93. |
25. | Molecular cloning and expression of rat betacellulin cDNA. | Tada H, etal., Biochim Biophys Acta 2000 Jun 21;1492(1):285-8. |
26. | Gene Therapy with Neurogenin 3 and Betacellulin Reverses Major Metabolic Problems in Insulin-Deficient Diabetic Mice. | Yechoor V, etal., Endocrinology. 2009 Oct 9. |
Btc (Rattus norvegicus - Norway rat) |
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BTC (Homo sapiens - human) |
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Btc (Mus musculus - house mouse) |
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Btc (Chinchilla lanigera - long-tailed chinchilla) |
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BTC (Pan paniscus - bonobo/pygmy chimpanzee) |
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BTC (Canis lupus familiaris - dog) |
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Btc (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BTC (Sus scrofa - pig) |
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BTC (Chlorocebus sabaeus - green monkey) |
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Btc (Heterocephalus glaber - naked mole-rat) |
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Variants in Btc
300 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 |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 14 | ||||||||||||
Low | 3 | 37 | 17 | 4 | 16 | 4 | 60 | 21 | 30 | 10 | |||
Below cutoff | 6 | 40 | 37 | 3 | 37 | 8 | 11 | 14 | 7 | 1 | 8 |
RefSeq Transcripts | NM_022256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB028862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH474060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000003686 ⟹ ENSRNOP00000003686 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000109549 ⟹ ENSRNOP00000095979 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000113734 ⟹ ENSRNOP00000082218 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000116022 ⟹ ENSRNOP00000081813 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_022256 ⟹ NP_071592 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_071592 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | BAA96731 | (Get FASTA) | NCBI Sequence Viewer |
EDL88582 | (Get FASTA) | NCBI Sequence Viewer | |
EDL88583 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000003686.7 | ||
ENSRNOP00000081813.1 | |||
ENSRNOP00000082218 | |||
ENSRNOP00000082218.1 | |||
ENSRNOP00000095979.1 |
RefSeq Acc Id: | NP_071592 ⟸ NM_022256 |
- Peptide Label: | precursor |
- UniProtKB: | Q9JJM4 (UniProtKB/TrEMBL), F1LPG4 (UniProtKB/TrEMBL), A0A8J8YRH0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000003686 ⟸ ENSRNOT00000003686 |
RefSeq Acc Id: | ENSRNOP00000095979 ⟸ ENSRNOT00000109549 |
RefSeq Acc Id: | ENSRNOP00000082218 ⟸ ENSRNOT00000113734 |
RefSeq Acc Id: | ENSRNOP00000081813 ⟸ ENSRNOT00000116022 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9JJM4-F1-model_v2 | AlphaFold | Q9JJM4 | 1-177 | 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:620275 | AgrOrtholog |
BioCyc Gene | G2FUF-16217 | BioCyc |
Ensembl Genes | ENSRNOG00000002728 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000003686.8 | UniProtKB/TrEMBL |
ENSRNOT00000109549.1 | UniProtKB/TrEMBL | |
ENSRNOT00000113734 | ENTREZGENE | |
ENSRNOT00000113734.1 | UniProtKB/TrEMBL | |
ENSRNOT00000116022.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Laminin | UniProtKB/TrEMBL |
InterPro | EGF_3 | UniProtKB/TrEMBL |
KEGG Report | rno:64022 | UniProtKB/TrEMBL |
NCBI Gene | 64022 | ENTREZGENE |
PANTHER | PROBETACELLULIN | UniProtKB/TrEMBL |
PTHR10740 | UniProtKB/TrEMBL | |
PhenoGen | Btc | PhenoGen |
PRINTS | EGFTGF | UniProtKB/TrEMBL |
PROSITE | EGF_1 | UniProtKB/TrEMBL |
EGF_2 | UniProtKB/TrEMBL | |
EGF_3 | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000002728 | RatGTEx |
Superfamily-SCOP | EGF/Laminin | UniProtKB/TrEMBL |
UniProt | A0A8I5ZSF9_RAT | UniProtKB/TrEMBL |
A0A8I6AQ55_RAT | UniProtKB/TrEMBL | |
A0A8J8YRH0 | ENTREZGENE, UniProtKB/TrEMBL | |
A6KKC7_RAT | UniProtKB/TrEMBL | |
A6KKC8_RAT | UniProtKB/TrEMBL | |
F1LPG4 | ENTREZGENE | |
Q9JJM4 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | F1LPG4 | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2004-12-14 | Btc | betacellulin | Symbol and Name status set to approved | 1299863 | APPROVED | ||
2002-08-07 | Btc | betacellulin | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_expression | expressed in kidney | 631927 |