Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | INSIG2 (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 | INSIG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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INSIG2 (Canis lupus familiaris - dog) |
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INSIG2 (Homo sapiens - human) |
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Insig2 (Mus musculus - house mouse) |
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Insig2 (Rattus norvegicus - Norway rat) |
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Insig2 (Chinchilla lanigera - long-tailed chinchilla) |
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INSIG2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Insig2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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INSIG2 (Sus scrofa - pig) |
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INSIG2 (Chlorocebus sabaeus - green monkey) |
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Insig2 (Heterocephalus glaber - naked mole-rat) |
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Variants in INSIG2
130 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 | 5 | 6 | 6 | 2 | 12 | 2 | 10 | 6 |
Low | 1 | 4 | 6 | |||||||||
Below cutoff |
RefSeq Transcripts | XM_038426077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_038426078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038426079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038426081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038426082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038426083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038454692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038454693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038454694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038454695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038454696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038502265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038502266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038502267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038502268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038502269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038502270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038564979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038564980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038564981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038564982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038564983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038564984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038629068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038629069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038629070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038629071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038629072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038629073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_848012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000042864 ⟹ ENSCAFP00000039217 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000060104 ⟹ ENSCAFP00000054398 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000073002 ⟹ ENSCAFP00000060795 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845010565 ⟹ ENSCAFP00845008225 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845010575 ⟹ ENSCAFP00845008235 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845010586 ⟹ ENSCAFP00845008244 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845010597 ⟹ ENSCAFP00845008253 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038426077 ⟹ XP_038282005 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038426078 ⟹ XP_038282006 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038426079 ⟹ XP_038282007 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038426081 ⟹ XP_038282009 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038426082 ⟹ XP_038282010 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038426083 ⟹ XP_038282011 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038454692 ⟹ XP_038310620 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038454693 ⟹ XP_038310621 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038454694 ⟹ XP_038310622 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038454695 ⟹ XP_038310623 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038454696 ⟹ XP_038310624 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038502265 ⟹ XP_038358193 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038502266 ⟹ XP_038358194 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038502267 ⟹ XP_038358195 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038502268 ⟹ XP_038358196 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038502269 ⟹ XP_038358197 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038502270 ⟹ XP_038358198 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038564979 ⟹ XP_038420907 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038564980 ⟹ XP_038420908 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038564981 ⟹ XP_038420909 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038564982 ⟹ XP_038420910 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038564983 ⟹ XP_038420911 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038564984 ⟹ XP_038420912 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038629068 ⟹ XP_038484996 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038629069 ⟹ XP_038484997 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038629070 ⟹ XP_038484998 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038629071 ⟹ XP_038484999 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038629072 ⟹ XP_038485000 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038629073 ⟹ XP_038485001 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_848012 ⟹ XP_853105 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_038282005 | (Get FASTA) | NCBI Sequence Viewer |
XP_038282006 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038282007 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038282009 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038282010 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038282011 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038310620 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038310621 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038310622 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038310623 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038310624 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038358193 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038358194 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038358195 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038358196 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038358197 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038358198 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038420907 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038420908 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038420909 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038420910 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038420911 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038420912 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038484996 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038484997 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038484998 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038484999 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038485000 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038485001 | (Get FASTA) | NCBI Sequence Viewer | |
XP_853105 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000039217.2 | ||
ENSCAFP00000060795.2 | |||
ENSCAFP00000072505.1 | |||
ENSCAFP00000072931.1 | |||
ENSCAFP00030031956.1 | |||
ENSCAFP00030031989.1 | |||
ENSCAFP00040013307.1 | |||
ENSCAFP00845008225.1 | |||
ENSCAFP00845008235.1 | |||
ENSCAFP00845008244 | |||
ENSCAFP00845008244.1 | |||
ENSCAFP00845008253.1 |
RefSeq Acc Id: | XP_853105 ⟸ XM_848012 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000054398 ⟸ ENSCAFT00000060104 |
RefSeq Acc Id: | ENSCAFP00000060795 ⟸ ENSCAFT00000073002 |
RefSeq Acc Id: | ENSCAFP00000039217 ⟸ ENSCAFT00000042864 |
RefSeq Acc Id: | XP_038358196 ⟸ XM_038502268 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038358193 ⟸ XM_038502265 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038358197 ⟸ XM_038502269 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038358194 ⟸ XM_038502266 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038358195 ⟸ XM_038502267 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038358198 ⟸ XM_038502270 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038484999 ⟸ XM_038629071 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038484996 ⟸ XM_038629068 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038485000 ⟸ XM_038629072 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038484997 ⟸ XM_038629069 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038484998 ⟸ XM_038629070 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038485001 ⟸ XM_038629073 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038282009 ⟸ XM_038426081 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038282005 ⟸ XM_038426077 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038282010 ⟸ XM_038426082 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038282006 ⟸ XM_038426078 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038282007 ⟸ XM_038426079 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038282011 ⟸ XM_038426083 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038310622 ⟸ XM_038454694 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038310620 ⟸ XM_038454692 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038310623 ⟸ XM_038454695 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038310621 ⟸ XM_038454693 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038310624 ⟸ XM_038454696 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038420910 ⟸ XM_038564982 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038420907 ⟸ XM_038564979 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420911 ⟸ XM_038564983 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038420908 ⟸ XM_038564980 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420909 ⟸ XM_038564981 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KMJ2 (UniProtKB/TrEMBL), A0A8C0NZL6 (UniProtKB/TrEMBL), A0A8C0QLG9 (UniProtKB/TrEMBL), A0A8I3MQT8 (UniProtKB/TrEMBL), A0A8I3RUF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420912 ⟸ XM_038564984 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSCAFP00845008244 ⟸ ENSCAFT00845010586 |
RefSeq Acc Id: | ENSCAFP00845008235 ⟸ ENSCAFT00845010575 |
RefSeq Acc Id: | ENSCAFP00845008225 ⟸ ENSCAFT00845010565 |
RefSeq Acc Id: | ENSCAFP00845008253 ⟸ ENSCAFT00845010597 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000030843 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030019935 | UniProtKB/TrEMBL | |
ENSCAFG00040008194 | UniProtKB/TrEMBL | |
ENSCAFG00845005970 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000042864.3 | UniProtKB/TrEMBL |
ENSCAFT00000073002.2 | UniProtKB/TrEMBL | |
ENSCAFT00000094683.1 | UniProtKB/TrEMBL | |
ENSCAFT00000109744.1 | UniProtKB/TrEMBL | |
ENSCAFT00030036625.1 | UniProtKB/TrEMBL | |
ENSCAFT00030036669.1 | UniProtKB/TrEMBL | |
ENSCAFT00040015357.1 | UniProtKB/TrEMBL | |
ENSCAFT00845010565.1 | UniProtKB/TrEMBL | |
ENSCAFT00845010575.1 | UniProtKB/TrEMBL | |
ENSCAFT00845010586 | ENTREZGENE | |
ENSCAFT00845010586.1 | UniProtKB/TrEMBL | |
ENSCAFT00845010597.1 | UniProtKB/TrEMBL | |
InterPro | INSIG_fam | UniProtKB/TrEMBL |
NCBI Gene | INSIG2 | ENTREZGENE |
PANTHER | INSULIN-INDUCED GENE 2 PROTEIN | UniProtKB/TrEMBL |
PTHR15301 | UniProtKB/TrEMBL | |
Pfam | INSIG | UniProtKB/TrEMBL |
UniProt | A0A8C0KMJ2 | ENTREZGENE |
A0A8C0NZL6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0P026_CANLF | UniProtKB/TrEMBL | |
A0A8C0QLG9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MQT8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MT10_CANLF | UniProtKB/TrEMBL | |
A0A8I3MXB0_CANLF | UniProtKB/TrEMBL | |
A0A8I3RUF9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0PNI1_CANLF | UniProtKB/TrEMBL | |
A0A8P0PNP1_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:42040 | ENTREZGENE |