![]()
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Extl3 | Rat | Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities | | ISO | EXTL3 (Homo sapiens) | 7240710 | | OMIM | | |
|
![]()
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Extl3 | Rat | Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities | | ISO | EXTL3 (Homo sapiens) | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
|
# | 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. | Localization of Reg receptor in rat fundic mucosa. | Kazumori H, etal., J Lab Clin Med 2002 Feb;139(2):101-8. |
3. | Identification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor. | Kobayashi S, etal., J Biol Chem 2000 Apr 14;275(15):10723-6. |
4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
5. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | GOA pipeline | RGD automated data pipeline |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
10. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
PMID:10639137 | PMID:16874863 | PMID:22158612 | PMID:28132690 | PMID:28148688 |
Extl3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
EXTL3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Extl3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Extl3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
EXTL3 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
EXTL3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Extl3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
EXTL3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
EXTL3 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Extl3 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Extl3
1939 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 |
BF392677 |
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
16 | 12 | 67 | 161 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 140 | 81 | 92 | 31 | 17 | 17 |
RefSeq Transcripts | NM_001431349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001431350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001431351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001431352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001431353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001431354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001431355 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_020097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006252206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017599790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093622 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063274596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063274597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB033367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH474023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000018583 ⟹ ENSRNOP00000018583 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000077197 ⟹ ENSRNOP00000073791 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
RefSeq Acc Id: | NM_020097 ⟹ NP_064482 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006252206 ⟹ XP_006252268 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_039093618 ⟹ XP_038949546 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039093619 ⟹ XP_038949547 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039093620 ⟹ XP_038949548 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039093622 ⟹ XP_038949550 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039093623 ⟹ XP_038949551 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_063274596 ⟹ XP_063130666 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063274597 ⟹ XP_063130667 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001418278 | (Get FASTA) | NCBI Sequence Viewer |
NP_001418279 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001418280 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001418281 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001418282 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001418283 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001418284 | (Get FASTA) | NCBI Sequence Viewer | |
NP_064482 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006252268 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949546 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949547 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949548 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949550 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949551 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063130666 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063130667 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAA92895 | (Get FASTA) | NCBI Sequence Viewer |
EDL85349 | (Get FASTA) | NCBI Sequence Viewer | |
EDL85350 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000018583.1 | ||
ENSRNOP00000073791 | |||
ENSRNOP00000073791.2 |
RefSeq Acc Id: | NP_064482 ⟸ NM_020097 |
- UniProtKB: | A0A0G2K6F4 (UniProtKB/TrEMBL), F7F308 (UniProtKB/TrEMBL), Q9JMA8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006252268 ⟸ XM_006252206 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0G2K6F4 (UniProtKB/TrEMBL), F7F308 (UniProtKB/TrEMBL), Q9JMA8 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000073791 ⟸ ENSRNOT00000077197 |
Ensembl Acc Id: | ENSRNOP00000018583 ⟸ ENSRNOT00000018583 |
RefSeq Acc Id: | XP_038949550 ⟸ XM_039093622 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038949547 ⟸ XM_039093619 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038949551 ⟸ XM_039093623 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038949546 ⟸ XM_039093618 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038949548 ⟸ XM_039093620 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_063130667 ⟸ XM_063274597 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_063130666 ⟸ XM_063274596 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9JMA8-F1-model_v2 | AlphaFold | Q9JMA8 | 1-919 | 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:62065 | AgrOrtholog |
BioCyc Gene | G2FUF-13365 | BioCyc |
BioCyc Pathway | PWY-6558 [heparan sulfate biosynthesis] | BioCyc |
BioCyc Pathway Image | PWY-6558 | BioCyc |
Ensembl Genes | ENSRNOG00000013581 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000018583.4 | UniProtKB/TrEMBL |
ENSRNOT00000077197 | ENTREZGENE | |
ENSRNOT00000077197.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A | UniProtKB/TrEMBL |
InterPro | Exostosin | UniProtKB/TrEMBL |
Exostosin_GT47 | UniProtKB/TrEMBL | |
HexNAc_Trfase_a | UniProtKB/TrEMBL | |
Nucleotide-diphossugar_trans | UniProtKB/TrEMBL | |
KEGG Report | rno:56819 | UniProtKB/TrEMBL |
NCBI Gene | Extl3 | ENTREZGENE |
PANTHER | ACETYLGLUCOSAMINYLTRANSFERASE | UniProtKB/TrEMBL |
EXOSTOSIN LIKE GLYCOSYLTRANSFERASE 3 | UniProtKB/TrEMBL | |
Pfam | Exostosin | UniProtKB/TrEMBL |
Glyco_transf_64 | UniProtKB/TrEMBL | |
PhenoGen | Extl3 | PhenoGen |
RatGTEx | ENSRNOG00000013581 | RatGTEx |
Superfamily-SCOP | SSF53448 | UniProtKB/TrEMBL |
TIGR | TC226254 | |
UniProt | A0A0G2K6F4 | ENTREZGENE, UniProtKB/TrEMBL |
F7F308 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9JMA8 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2021-03-09 | Extl3 | exostosin-like glycosyltransferase 3 | LOC102549615 | exostosin-like 3-like | Data merged from RGD:7558291 | 737654 | PROVISIONAL |
2013-12-17 | LOC102549615 | exostosin-like 3-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2013-03-06 | Extl3 | exostosin-like glycosyltransferase 3 | Extl3 | exostoses (multiple)-like 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2002-06-10 | Extl3 | exostoses (multiple)-like 3 | Name updated | 70584 | APPROVED |
Note Type | Note | Reference |
---|---|---|
gene_protein | 919 amino acids | 61576 |