Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | NR1H2 (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 | NR1H2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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NR1H2 (Canis lupus familiaris - dog) |
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NR1H2 (Homo sapiens - human) |
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Nr1h2 (Mus musculus - house mouse) |
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Nr1h2 (Rattus norvegicus - Norway rat) |
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Nr1h2 (Chinchilla lanigera - long-tailed chinchilla) |
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NR1H2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Nr1h2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NR1H2 (Sus scrofa - pig) |
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NR1H2 (Chlorocebus sabaeus - green monkey) |
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Nr1h2 (Heterocephalus glaber - naked mole-rat) |
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Variants in NR1H2
43 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 5 | 5 | 22 | 6 | 6 | 6 | 6 | 6 | 12 | 8 | 10 | 6 |
Low | ||||||||||||
Below cutoff |
RefSeq Transcripts | XM_005616270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_022423354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038467403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038467404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038467405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038528101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038528102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038528103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038592398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038592399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038592400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038656190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038656191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038656192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_846223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000005346 ⟹ ENSCAFP00000004950 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000079748 ⟹ ENSCAFP00000049201 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845032512 ⟹ ENSCAFP00845025424 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845032604 ⟹ ENSCAFP00845025499 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005616270 ⟹ XP_005616327 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022423354 ⟹ XP_022279062 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038467403 ⟹ XP_038323331 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038467404 ⟹ XP_038323332 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038467405 ⟹ XP_038323333 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038528101 ⟹ XP_038384029 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038528102 ⟹ XP_038384030 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038528103 ⟹ XP_038384031 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038592398 ⟹ XP_038448326 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038592399 ⟹ XP_038448327 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038592400 ⟹ XP_038448328 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038656190 ⟹ XP_038512118 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038656191 ⟹ XP_038512119 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038656192 ⟹ XP_038512120 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_846223 ⟹ XP_851316 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_005616327 | (Get FASTA) | NCBI Sequence Viewer |
XP_022279062 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038323331 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038323332 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038323333 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038384029 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038384030 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038384031 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038448326 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038448327 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038448328 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038512118 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038512119 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038512120 | (Get FASTA) | NCBI Sequence Viewer | |
XP_851316 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000004950.4 | ||
ENSCAFP00000049201.1 | |||
ENSCAFP00030003190.1 | |||
ENSCAFP00030003224.1 | |||
ENSCAFP00040019858.1 | |||
ENSCAFP00040019891.1 | |||
ENSCAFP00845025424 | |||
ENSCAFP00845025424.1 | |||
ENSCAFP00845025499.1 |
RefSeq Acc Id: | XP_851316 ⟸ XM_846223 |
- UniProtKB: | A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL), A0A8C0L554 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005616327 ⟸ XM_005616270 |
- UniProtKB: | A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL), A0A8C0L554 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022279062 ⟸ XM_022423354 |
- UniProtKB: | A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL), A0A8C0L554 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000004950 ⟸ ENSCAFT00000005346 |
RefSeq Acc Id: | ENSCAFP00000049201 ⟸ ENSCAFT00000079748 |
RefSeq Acc Id: | XP_038323333 ⟸ XM_038467405 |
RefSeq Acc Id: | XP_038323331 ⟸ XM_038467403 |
RefSeq Acc Id: | XP_038323332 ⟸ XM_038467404 |
RefSeq Acc Id: | XP_038448328 ⟸ XM_038592400 |
RefSeq Acc Id: | XP_038448326 ⟸ XM_038592398 |
RefSeq Acc Id: | XP_038448327 ⟸ XM_038592399 |
RefSeq Acc Id: | XP_038512120 ⟸ XM_038656192 |
- UniProtKB: | A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL), A0A8C0L554 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038512118 ⟸ XM_038656190 |
- UniProtKB: | A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL), A0A8C0L554 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038512119 ⟸ XM_038656191 |
- UniProtKB: | A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL), A0A8C0L554 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038384031 ⟸ XM_038528103 |
- UniProtKB: | A0A8C0L554 (UniProtKB/TrEMBL), A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038384029 ⟸ XM_038528101 |
- UniProtKB: | A0A8C0L554 (UniProtKB/TrEMBL), A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038384030 ⟸ XM_038528102 |
- UniProtKB: | A0A8C0L554 (UniProtKB/TrEMBL), A0A8C0SEE4 (UniProtKB/TrEMBL), A0A8I3NW80 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845025424 ⟸ ENSCAFT00845032512 |
RefSeq Acc Id: | ENSCAFP00845025499 ⟸ ENSCAFT00845032604 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000003338 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030001978 | UniProtKB/TrEMBL | |
ENSCAFG00040012386 | UniProtKB/TrEMBL | |
ENSCAFG00845018363 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000005346.5 | UniProtKB/TrEMBL |
ENSCAFT00000079748.2 | UniProtKB/TrEMBL | |
ENSCAFT00030003603.1 | UniProtKB/TrEMBL | |
ENSCAFT00030003638.1 | UniProtKB/TrEMBL | |
ENSCAFT00040022915.1 | UniProtKB/TrEMBL | |
ENSCAFT00040022951.1 | UniProtKB/TrEMBL | |
ENSCAFT00845032512 | ENTREZGENE | |
ENSCAFT00845032512.1 | UniProtKB/TrEMBL | |
ENSCAFT00845032604.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.565.10 | UniProtKB/TrEMBL |
3.30.50.10 | UniProtKB/TrEMBL | |
InterPro | Liver_X_rcpt | UniProtKB/TrEMBL |
NHR-like_dom_sf | UniProtKB/TrEMBL | |
Nucl_hrmn_rcpt_lig-bd | UniProtKB/TrEMBL | |
Nuclear_hrmn_rcpt | UniProtKB/TrEMBL | |
Znf_hrmn_rcpt | UniProtKB/TrEMBL | |
Znf_NHR/GATA | UniProtKB/TrEMBL | |
KEGG Report | cfa:610057 | UniProtKB/TrEMBL |
NCBI Gene | NR1H2 | ENTREZGENE |
PANTHER | NUCLEAR HORMONE RECEPTOR | UniProtKB/TrEMBL |
OXYSTEROLS RECEPTOR LXR-BETA | UniProtKB/TrEMBL | |
Pfam | Hormone_recep | UniProtKB/TrEMBL |
zf-C4 | UniProtKB/TrEMBL | |
PRINTS | LIVERXRECPTR | UniProtKB/TrEMBL |
STRDHORMONER | UniProtKB/TrEMBL | |
STROIDFINGER | UniProtKB/TrEMBL | |
PROSITE | NR_LBD | UniProtKB/TrEMBL |
NUCLEAR_REC_DBD_1 | UniProtKB/TrEMBL | |
NUCLEAR_REC_DBD_2 | UniProtKB/TrEMBL | |
SMART | HOLI | UniProtKB/TrEMBL |
ZnF_C4 | UniProtKB/TrEMBL | |
Superfamily-SCOP | Glucocorticoid receptor-like (DNA-binding domain) | UniProtKB/TrEMBL |
SSF48508 | UniProtKB/TrEMBL | |
UniProt | A0A8C0L554 | ENTREZGENE |
A0A8C0M0W1_CANLF | UniProtKB/TrEMBL | |
A0A8C0M4C0_CANLF | UniProtKB/TrEMBL | |
A0A8C0SEE4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0SEX0_CANLF | UniProtKB/TrEMBL | |
A0A8I3NW80 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PDK1_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:43942 | ENTREZGENE |