![]()
Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive non-syndromic intellectual disability | | ISS | RGD:733590 | 13592920 | OMIM:249500 more ... | MouseDO | | |
|
![]()
Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive non-syndromic intellectual disability | | ISS | RGD:733590 | 13592920 | OMIM:249500 more ... | MouseDO | | |
|
|
|
|
|
|
|
|
|
1. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
3. | MGD and Homologene mouse data transfer |
4. | MGD data from the GO Consortium |
5. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
6. | OMIM Disease Annotation Pipeline |
7. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12482854 | PMID:12520002 | PMID:12904583 | PMID:14610273 | PMID:14681479 | PMID:15489334 |
PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16341590 | PMID:16916647 | PMID:18799693 | PMID:19164599 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:24457600 | PMID:26238476 |
PMID:28378742 | PMID:30196744 | PMID:30498063 | PMID:32325033 | PMID:32581705 | PMID:32968282 |
Tecr (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TECR (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tecr (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tecr (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TECR (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TECR (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tecr (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TECR (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TECR (Chlorocebus sabaeus - African green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tecr (Heterocephalus glaber - naked mole-rat) |
|
AI173355 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH126374 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH139870 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BI282960 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gpsn2 |
|
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
RefSeq Transcripts | NM_027179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_134118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC151992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK002384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK013558 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK020708 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK171718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK172506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK179321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK189199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK211768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC094046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC115455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE994003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY278351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000019382 ⟹ ENSMUSP00000019382 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000163837 ⟹ ENSMUSP00000128329 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000165740 ⟹ ENSMUSP00000131389 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000211972 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212005 ⟹ ENSMUSP00000148498 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212136 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212187 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212285 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212418 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212575 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212630 ⟹ ENSMUSP00000148368 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212652 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212703 ⟹ ENSMUSP00000148299 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000212990 ⟹ ENSMUSP00000148721 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000238861 ⟹ ENSMUSP00000159114 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000238997 ⟹ ENSMUSP00000159187 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_027179 ⟹ NP_081455 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_134118 ⟹ NP_598879 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_081455 | (Get FASTA) | NCBI Sequence Viewer |
NP_598879 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH19984 | (Get FASTA) | NCBI Sequence Viewer |
AAH94046 | (Get FASTA) | NCBI Sequence Viewer | |
AAI15456 | (Get FASTA) | NCBI Sequence Viewer | |
BAB26996 | (Get FASTA) | NCBI Sequence Viewer | |
BAB27305 | (Get FASTA) | NCBI Sequence Viewer | |
BAE42630 | (Get FASTA) | NCBI Sequence Viewer | |
EDL10910 | (Get FASTA) | NCBI Sequence Viewer | |
Q9CY27 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_598879 ⟸ NM_134118 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9CY27 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_081455 ⟸ NM_027179 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9CY27 (UniProtKB/Swiss-Prot), G3UWE1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000128329 ⟸ ENSMUST00000163837 |
RefSeq Acc Id: | ENSMUSP00000131389 ⟸ ENSMUST00000165740 |
RefSeq Acc Id: | ENSMUSP00000159114 ⟸ ENSMUST00000238861 |
RefSeq Acc Id: | ENSMUSP00000159187 ⟸ ENSMUST00000238997 |
RefSeq Acc Id: | ENSMUSP00000148721 ⟸ ENSMUST00000212990 |
RefSeq Acc Id: | ENSMUSP00000148498 ⟸ ENSMUST00000212005 |
RefSeq Acc Id: | ENSMUSP00000148368 ⟸ ENSMUST00000212630 |
RefSeq Acc Id: | ENSMUSP00000148299 ⟸ ENSMUST00000212703 |
RefSeq Acc Id: | ENSMUSP00000019382 ⟸ ENSMUST00000019382 |
RGD ID: | 8667605 | ||||||||
Promoter ID: | EPDNEW_M11834 | ||||||||
Type: | initiation region | ||||||||
Name: | Tecr_2 | ||||||||
Description: | Mus musculus trans-2,3-enoyl-CoA reductase , transcript variant2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M11835 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 8667607 | ||||||||
Promoter ID: | EPDNEW_M11835 | ||||||||
Type: | initiation region | ||||||||
Name: | Tecr_1 | ||||||||
Description: | Mus musculus trans-2,3-enoyl-CoA reductase , transcript variant2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M11834 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6848329 | ||||||||
Promoter ID: | MM_ACW:48169 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Kidney, Liver, Lung | ||||||||
Transcripts: | GPSN2.OSEP07-UNSPLICED, GPSN2.TSEP07 | ||||||||
Position: |
|
RGD ID: | 6843297 | ||||||||
Promoter ID: | MM_KWN:55006 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, Kidney, Liver, Lung | ||||||||
Transcripts: | UC009MKL.1 | ||||||||
Position: |
|
RGD ID: | 6848318 | ||||||||
Promoter ID: | MM_ACW:48170 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain, Liver, Spleen | ||||||||
Transcripts: | GPSN2.DSEP07, GPSN2.ESEP07, GPSN2.SSEP07 | ||||||||
Position: |
|
RGD ID: | 6843793 | ||||||||
Promoter ID: | MM_KWN:55009 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | NM_027179, NM_134118 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | MGI:1915408 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000031708 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000019382 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUSP00000128329 | UniProtKB/TrEMBL | |
ENSMUSP00000131389 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSMUSP00000148299 | UniProtKB/TrEMBL | |
ENSMUSP00000148368 | UniProtKB/TrEMBL | |
ENSMUSP00000148498 | UniProtKB/TrEMBL | |
ENSMUSP00000148721 | UniProtKB/TrEMBL | |
ENSMUSP00000159114 | UniProtKB/TrEMBL | |
ENSMUSP00000159187 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSMUST00000019382 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUST00000163837 | UniProtKB/TrEMBL | |
ENSMUST00000165740 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSMUST00000212005 | UniProtKB/TrEMBL | |
ENSMUST00000212630 | UniProtKB/TrEMBL | |
ENSMUST00000212703 | UniProtKB/TrEMBL | |
ENSMUST00000212990 | UniProtKB/TrEMBL | |
ENSMUST00000238861 | UniProtKB/TrEMBL | |
ENSMUST00000238997 | UniProtKB/TrEMBL | |
InterPro | 3-oxo-5_a-steroid_4-DH_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SRD5A/TECR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ubiquitin-like_domsf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:106529 | UniProtKB/Swiss-Prot |
MGD | MGI:1915408 | ENTREZGENE |
NCBI Gene | 106529 | ENTREZGENE |
PANTHER | PTHR10556 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Steroid_dh | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Tecr | PhenoGen |
PROSITE | S5A_REDUCTASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF54236 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniGene | Mm.352239 | ENTREZGENE |
UniProt | A0A1D5RLB4_MOUSE | UniProtKB/TrEMBL |
A0A1D5RLH3_MOUSE | UniProtKB/TrEMBL | |
A0A1D5RLT5_MOUSE | UniProtKB/TrEMBL | |
A0A5F8MPU6_MOUSE | UniProtKB/TrEMBL | |
A0A5F8MQC8_MOUSE | UniProtKB/TrEMBL | |
G3UWE1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q14C44_MOUSE | UniProtKB/TrEMBL | |
Q3TAN8_MOUSE | UniProtKB/TrEMBL | |
Q52L67_MOUSE | UniProtKB/TrEMBL | |
Q9CWN2_MOUSE | UniProtKB/TrEMBL | |
Q9CY27 | ENTREZGENE, UniProtKB/Swiss-Prot |