Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | ISO | SEZ6 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | ISO | SEZ6 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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# | Reference Title | Reference Citation |
1. | MGDs mouse GO annotations | MGD data from the GO Consortium |
2. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | Cloning and expression of SEZ-6, a brain-specific and seizure-related cDNA. | Shimizu-Nishikawa K, etal., Brain Res Mol Brain Res 1995 Feb;28(2):201-10. |
PMID:7488116 | PMID:7626882 | PMID:8645260 | PMID:8889548 | PMID:9073173 | PMID:9441754 | PMID:10349636 | PMID:10700579 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12351182 |
PMID:12477932 | PMID:14610273 | PMID:15226823 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:16814779 | PMID:18031681 | PMID:18799693 | PMID:19662096 | PMID:20436479 | PMID:21334315 |
PMID:21873635 | PMID:23341629 | PMID:23770366 | PMID:24154525 | PMID:25960298 | PMID:27716410 | PMID:29979789 | PMID:31711114 | PMID:32567721 | PMID:34302009 | PMID:36368155 |
Sez6 (Mus musculus - house mouse) |
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SEZ6 (Homo sapiens - human) |
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Sez6 (Rattus norvegicus - Norway rat) |
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Sez6 (Chinchilla lanigera - long-tailed chinchilla) |
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SEZ6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SEZ6 (Canis lupus familiaris - dog) |
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Sez6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SEZ6 (Sus scrofa - pig) |
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SEZ6 (Chlorocebus sabaeus - green monkey) |
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Sez6 (Heterocephalus glaber - naked mole-rat) |
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Variants in Sez6
1274 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 |
D29763 |
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Sez6 |
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D11Bhm1 |
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D11Bhm153 |
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D11Bhm43 |
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D11Bhm44 |
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RefSeq Transcripts | NM_001291225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001425404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_021286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006532637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006532639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006532640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030245723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036156478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB206791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK032277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK147705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK161576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK165757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK220513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL591065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL845484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW122777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC055345 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU612140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D29763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D64009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D64010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X81719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y09922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000000646 ⟹ ENSMUSP00000000646 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000093995 ⟹ ENSMUSP00000091532 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000126866 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000138346 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000138749 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000140630 ⟹ ENSMUSP00000115660 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000142542 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000151982 ⟹ ENSMUSP00000132041 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000155087 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001291225 ⟹ NP_001278154 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001425404 ⟹ NP_001412333 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001425405 ⟹ NP_001412334 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001425406 ⟹ NP_001412335 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001425407 ⟹ NP_001412336 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001425408 ⟹ NP_001412337 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001425409 ⟹ NP_001412338 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_021286 ⟹ NP_067261 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006532637 ⟹ XP_006532700 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006532639 ⟹ XP_006532702 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006532640 ⟹ XP_006532703 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030245723 ⟹ XP_030101583 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036156478 ⟹ XP_036012371 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001278154 | (Get FASTA) | NCBI Sequence Viewer |
NP_001412333 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001412334 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001412335 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001412336 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001412337 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001412338 | (Get FASTA) | NCBI Sequence Viewer | |
NP_067261 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006532700 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006532702 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006532703 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030101583 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036012371 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH53011 | (Get FASTA) | NCBI Sequence Viewer |
AAH55345 | (Get FASTA) | NCBI Sequence Viewer | |
BAA06167 | (Get FASTA) | NCBI Sequence Viewer | |
BAA10889 | (Get FASTA) | NCBI Sequence Viewer | |
BAA10890 | (Get FASTA) | NCBI Sequence Viewer | |
BAD90303 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36472 | (Get FASTA) | NCBI Sequence Viewer | |
BAE44444 | (Get FASTA) | NCBI Sequence Viewer | |
CAA71055 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12898 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12899 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12900 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000000646 | ||
ENSMUSP00000000646.8 | |||
ENSMUSP00000091532 | |||
ENSMUSP00000091532.4 | |||
ENSMUSP00000115660.2 | |||
ENSMUSP00000132041.2 | |||
GenBank Protein | Q7TSK2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_067261 ⟸ NM_021286 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q62269 (UniProtKB/Swiss-Prot), Q62224 (UniProtKB/Swiss-Prot), Q62223 (UniProtKB/Swiss-Prot), Q3TT53 (UniProtKB/Swiss-Prot), Q7TPC9 (UniProtKB/Swiss-Prot), Q7TSK2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006532700 ⟸ XM_006532637 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006532702 ⟸ XM_006532639 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q5DTK7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006532703 ⟸ XM_006532640 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q7TSK2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001278154 ⟸ NM_001291225 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | Q7TSK2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_030101583 ⟸ XM_030245723 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q5DTK7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000091532 ⟸ ENSMUST00000093995 |
RefSeq Acc Id: | ENSMUSP00000000646 ⟸ ENSMUST00000000646 |
RefSeq Acc Id: | ENSMUSP00000132041 ⟸ ENSMUST00000151982 |
RefSeq Acc Id: | ENSMUSP00000115660 ⟸ ENSMUST00000140630 |
RefSeq Acc Id: | XP_036012371 ⟸ XM_036156478 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q5DTK7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001412334 ⟸ NM_001425405 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q5DTK7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001412333 ⟸ NM_001425404 |
- Peptide Label: | isoform 3 precursor |
RefSeq Acc Id: | NP_001412336 ⟸ NM_001425407 |
- Peptide Label: | isoform 6 |
- UniProtKB: | Q5DTK7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001412337 ⟸ NM_001425408 |
- Peptide Label: | isoform 7 precursor |
RefSeq Acc Id: | NP_001412338 ⟸ NM_001425409 |
- Peptide Label: | isoform 8 precursor |
RefSeq Acc Id: | NP_001412335 ⟸ NM_001425406 |
- Peptide Label: | isoform 5 |
- UniProtKB: | Q5DTK7 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q7TSK2-F1-model_v2 | AlphaFold | Q7TSK2 | 1-991 | view protein structure |
RGD ID: | 6822072 | ||||||||
Promoter ID: | MM_KWN:8646 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | OTTMUST00000000193, OTTMUST00000000196, OTTMUST00000000197, OTTMUST00000000200, OTTMUST00000014135 | ||||||||
Position: |
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RGD ID: | 6822073 | ||||||||
Promoter ID: | MM_KWN:8647 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | OTTMUST00000000194 | ||||||||
Position: |
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RGD ID: | 6822071 | ||||||||
Promoter ID: | MM_KWN:8648 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | OTTMUST00000000199 | ||||||||
Position: |
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RGD ID: | 6822074 | ||||||||
Promoter ID: | MM_KWN:8650 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Spleen | ||||||||
Transcripts: | OTTMUST00000000198 | ||||||||
Position: |
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RGD ID: | 8675658 | ||||||||
Promoter ID: | EPDNEW_M15860 | ||||||||
Type: | initiation region | ||||||||
Name: | Sez6_2 | ||||||||
Description: | Mus musculus seizure related gene 6 , transcript variant 1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M15861 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 8675660 | ||||||||
Promoter ID: | EPDNEW_M15861 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Sez6_1 | ||||||||
Description: | Mus musculus seizure related gene 6 , transcript variant 1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M15860 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:104745 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000000632 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000000646 | ENTREZGENE |
ENSMUST00000000646.14 | UniProtKB/Swiss-Prot | |
ENSMUST00000093995 | ENTREZGENE | |
ENSMUST00000093995.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000140630.2 | UniProtKB/TrEMBL | |
ENSMUST00000151982.8 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.120.290 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Complement Module, domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | CUB_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Sperma_CUB_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sushi/SCR/CCP_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sushi_SCR_CCP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:20370 | UniProtKB/Swiss-Prot |
MGD | MGI:104745 | ENTREZGENE |
NCBI Gene | 20370 | ENTREZGENE |
PANTHER | PROTEIN CBR-CLEC-78 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SEIZURE PROTEIN 6 HOMOLOG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | CUB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Sushi | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Sez6 | PhenoGen |
PROSITE | CUB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SUSHI | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | CCP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CUB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF49854 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF57535 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | F6SXT0_MOUSE | UniProtKB/TrEMBL |
F6XNR8_MOUSE | UniProtKB/TrEMBL | |
Q3TT53 | ENTREZGENE | |
Q5DTK7 | ENTREZGENE, UniProtKB/TrEMBL | |
Q62223 | ENTREZGENE | |
Q62224 | ENTREZGENE | |
Q62269 | ENTREZGENE | |
Q7TPC9 | ENTREZGENE | |
Q7TSK2 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q3TT53 | UniProtKB/Swiss-Prot |
Q62223 | UniProtKB/Swiss-Prot | |
Q62224 | UniProtKB/Swiss-Prot | |
Q62269 | UniProtKB/Swiss-Prot | |
Q7TPC9 | UniProtKB/Swiss-Prot |