Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | methylmalonic acidemia | | ISO | SEPTIN2 (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16823967 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | methylmalonic acidemia | | ISO | SEPTIN2 (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16823967 | |
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SEPTIN2 (Sus scrofa - pig) |
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SEPTIN2 (Homo sapiens - human) |
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Septin2 (Mus musculus - house mouse) |
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Septin2 (Rattus norvegicus - Norway rat) |
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Septin2 (Chinchilla lanigera - long-tailed chinchilla) |
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SEPTIN2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SEPTIN2 (Canis lupus familiaris - dog) |
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Septin2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SEPTIN2 (Chlorocebus sabaeus - green monkey) |
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Septin2 (Heterocephalus glaber - naked mole-rat) |
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Variants in SEPTIN2
749 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 8 | 2 | 3 | 5 | 16 | 2 | 3 | 3 | |
Low | 2 | 2 | 2 | 7 | |||||
Below cutoff |
RefSeq Transcripts | NM_001243793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021074595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021074596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021074597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021074598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021074600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002338992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002338993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK236310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK239638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK345098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK391334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK391422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK397428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK398019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK399263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB794261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FD637425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FP017230 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01024726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU358534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000017825 ⟹ ENSSSCP00000017344 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000038919 ⟹ ENSSSCP00000034021 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000039807 ⟹ ENSSSCP00000040319 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000057871 ⟹ ENSSSCP00000056587 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001243793 ⟹ NP_001230722 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021074595 ⟹ XP_020930254 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021074596 ⟹ XP_020930255 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021074597 ⟹ XP_020930256 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021074598 ⟹ XP_020930257 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021074600 ⟹ XP_020930259 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002338992 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002338993 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001230722 | (Get FASTA) | NCBI Sequence Viewer |
XP_020930254 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020930255 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020930256 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020930257 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020930259 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | ANH21167 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSSSCP00000017344 | ||
ENSSSCP00000017344.3 | |||
ENSSSCP00000034021.3 | |||
ENSSSCP00000040319.3 | |||
ENSSSCP00000056587.2 | |||
ENSSSCP00005013566.1 | |||
ENSSSCP00005013592.1 | |||
ENSSSCP00005013637.1 | |||
ENSSSCP00005013653.1 | |||
ENSSSCP00015041597.1 | |||
ENSSSCP00015041674.1 | |||
ENSSSCP00015041744.1 | |||
ENSSSCP00025046981.1 | |||
ENSSSCP00025046987.1 | |||
ENSSSCP00025046996.1 | |||
ENSSSCP00025047008.1 | |||
ENSSSCP00030011808.1 | |||
ENSSSCP00030011821.1 | |||
ENSSSCP00035039895.1 | |||
ENSSSCP00040041493.1 | |||
ENSSSCP00040041548.1 | |||
ENSSSCP00040041609.1 | |||
ENSSSCP00040041659.1 | |||
ENSSSCP00045018464.1 | |||
ENSSSCP00045018533.1 | |||
ENSSSCP00045018605.1 | |||
ENSSSCP00045018659.1 | |||
ENSSSCP00050025359.1 | |||
ENSSSCP00050025364.1 | |||
ENSSSCP00050025368.1 | |||
ENSSSCP00050025371.1 | |||
ENSSSCP00055038844.1 | |||
ENSSSCP00055038949.1 | |||
ENSSSCP00055039018.1 | |||
ENSSSCP00055039091.1 | |||
ENSSSCP00055039160.1 | |||
ENSSSCP00060039655.1 | |||
ENSSSCP00060039663.1 | |||
ENSSSCP00060039669.1 | |||
ENSSSCP00060039679.1 | |||
ENSSSCP00060039689.1 | |||
ENSSSCP00065044916.1 | |||
ENSSSCP00065044932.1 | |||
ENSSSCP00065044937.1 | |||
ENSSSCP00065044945.1 | |||
ENSSSCP00065044949.1 | |||
ENSSSCP00070008096.1 | |||
ENSSSCP00070008110.1 | |||
ENSSSCP00070008153.1 | |||
ENSSSCP00070008161.1 | |||
ENSSSCP00070008175.1 |
RefSeq Acc Id: | XP_020930256 ⟸ XM_021074597 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A173G6F9 (UniProtKB/TrEMBL), A0A4X1SZY0 (UniProtKB/TrEMBL), F1SIP0 (UniProtKB/TrEMBL), A0A286ZRC8 (UniProtKB/TrEMBL), A0A8D1S1A6 (UniProtKB/TrEMBL), A0A8D1RQ57 (UniProtKB/TrEMBL), A0A8D1WH62 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020930255 ⟸ XM_021074596 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A4X1T0C5 (UniProtKB/TrEMBL), A0A8D1RKK2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020930254 ⟸ XM_021074595 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A4X1T0C5 (UniProtKB/TrEMBL), A0A8D1RKK2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001230722 ⟸ NM_001243793 |
- UniProtKB: | F1SIP0 (UniProtKB/TrEMBL), A0A173G6F9 (UniProtKB/TrEMBL), A0A4X1SZY0 (UniProtKB/TrEMBL), A0A286ZRC8 (UniProtKB/TrEMBL), A0A8D1S1A6 (UniProtKB/TrEMBL), A0A8D1RQ57 (UniProtKB/TrEMBL), A0A8D1WH62 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020930259 ⟸ XM_021074600 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_020930257 ⟸ XM_021074598 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A173G6F9 (UniProtKB/TrEMBL), A0A4X1SZY0 (UniProtKB/TrEMBL), F1SIP0 (UniProtKB/TrEMBL), A0A286ZRC8 (UniProtKB/TrEMBL), A0A8D1S1A6 (UniProtKB/TrEMBL), A0A8D1RQ57 (UniProtKB/TrEMBL), A0A8D1WH62 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000040319 ⟸ ENSSSCT00000039807 |
RefSeq Acc Id: | ENSSSCP00000017344 ⟸ ENSSSCT00000017825 |
RefSeq Acc Id: | ENSSSCP00000034021 ⟸ ENSSSCT00000038919 |
RefSeq Acc Id: | ENSSSCP00000056587 ⟸ ENSSSCT00000057871 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000016370 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005014523 | UniProtKB/TrEMBL | |
ENSSSCG00015074686 | UniProtKB/TrEMBL | |
ENSSSCG00025076090 | UniProtKB/TrEMBL | |
ENSSSCG00030019151 | UniProtKB/TrEMBL | |
ENSSSCG00035070253 | UniProtKB/TrEMBL | |
ENSSSCG00040068665 | UniProtKB/TrEMBL | |
ENSSSCG00045015764 | UniProtKB/TrEMBL | |
ENSSSCG00050043425 | UniProtKB/TrEMBL | |
ENSSSCG00055024477 | UniProtKB/TrEMBL | |
ENSSSCG00060067015 | UniProtKB/TrEMBL | |
ENSSSCG00065073782 | UniProtKB/TrEMBL | |
ENSSSCG00070005178 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000017825 | ENTREZGENE |
ENSSSCT00000017825.5 | UniProtKB/TrEMBL | |
ENSSSCT00000038919.3 | UniProtKB/TrEMBL | |
ENSSSCT00000039807.3 | UniProtKB/TrEMBL | |
ENSSSCT00000057871 | ENTREZGENE | |
ENSSSCT00000057871.3 | UniProtKB/TrEMBL | |
ENSSSCT00005022641.1 | UniProtKB/TrEMBL | |
ENSSSCT00005022687.1 | UniProtKB/TrEMBL | |
ENSSSCT00005022751.1 | UniProtKB/TrEMBL | |
ENSSSCT00005022773.1 | UniProtKB/TrEMBL | |
ENSSSCT00015100548.1 | UniProtKB/TrEMBL | |
ENSSSCT00015100677.1 | UniProtKB/TrEMBL | |
ENSSSCT00015100813.1 | UniProtKB/TrEMBL | |
ENSSSCT00025105238.1 | UniProtKB/TrEMBL | |
ENSSSCT00025105245.1 | UniProtKB/TrEMBL | |
ENSSSCT00025105260.1 | UniProtKB/TrEMBL | |
ENSSSCT00025105279.1 | UniProtKB/TrEMBL | |
ENSSSCT00030026447.1 | UniProtKB/TrEMBL | |
ENSSSCT00030026469.1 | UniProtKB/TrEMBL | |
ENSSSCT00035094916.1 | UniProtKB/TrEMBL | |
ENSSSCT00040093965.1 | UniProtKB/TrEMBL | |
ENSSSCT00040094099.1 | UniProtKB/TrEMBL | |
ENSSSCT00040094250.1 | UniProtKB/TrEMBL | |
ENSSSCT00040094346.1 | UniProtKB/TrEMBL | |
ENSSSCT00045026749.1 | UniProtKB/TrEMBL | |
ENSSSCT00045026838.1 | UniProtKB/TrEMBL | |
ENSSSCT00045026924.1 | UniProtKB/TrEMBL | |
ENSSSCT00045026998.1 | UniProtKB/TrEMBL | |
ENSSSCT00050059093.1 | UniProtKB/TrEMBL | |
ENSSSCT00050059102.1 | UniProtKB/TrEMBL | |
ENSSSCT00050059110.1 | UniProtKB/TrEMBL | |
ENSSSCT00050059116.1 | UniProtKB/TrEMBL | |
ENSSSCT00055048672.1 | UniProtKB/TrEMBL | |
ENSSSCT00055048794.1 | UniProtKB/TrEMBL | |
ENSSSCT00055048875.1 | UniProtKB/TrEMBL | |
ENSSSCT00055048966.1 | UniProtKB/TrEMBL | |
ENSSSCT00055049049.1 | UniProtKB/TrEMBL | |
ENSSSCT00060091769.1 | UniProtKB/TrEMBL | |
ENSSSCT00060091805.1 | UniProtKB/TrEMBL | |
ENSSSCT00060091820.1 | UniProtKB/TrEMBL | |
ENSSSCT00060091844.1 | UniProtKB/TrEMBL | |
ENSSSCT00060091864.1 | UniProtKB/TrEMBL | |
ENSSSCT00065101913.1 | UniProtKB/TrEMBL | |
ENSSSCT00065101946.1 | UniProtKB/TrEMBL | |
ENSSSCT00065101959.1 | UniProtKB/TrEMBL | |
ENSSSCT00065101975.1 | UniProtKB/TrEMBL | |
ENSSSCT00065101982.1 | UniProtKB/TrEMBL | |
ENSSSCT00070009864.1 | UniProtKB/TrEMBL | |
ENSSSCT00070009887.1 | UniProtKB/TrEMBL | |
ENSSSCT00070009937.1 | UniProtKB/TrEMBL | |
ENSSSCT00070009945.1 | UniProtKB/TrEMBL | |
ENSSSCT00070009963.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/TrEMBL |
InterPro | G_SEPTIN_dom | UniProtKB/TrEMBL |
P-loop_NTPase | UniProtKB/TrEMBL | |
Septin | UniProtKB/TrEMBL | |
Septin2 | UniProtKB/TrEMBL | |
KEGG Report | ssc:100510936 | UniProtKB/TrEMBL |
NCBI Gene | SEPT2 | ENTREZGENE |
PANTHER | SEPTIN | UniProtKB/TrEMBL |
SEPTIN-2 | UniProtKB/TrEMBL | |
Pfam | Septin | UniProtKB/TrEMBL |
PIRSF | Septin | UniProtKB/TrEMBL |
PRINTS | SEPTIN2 | UniProtKB/TrEMBL |
PROSITE | G_SEPTIN | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF52540 | UniProtKB/TrEMBL |
UniProt | A0A173G6F9 | ENTREZGENE |
A0A286ZRC8 | ENTREZGENE | |
A0A287A8W9_PIG | UniProtKB/TrEMBL | |
A0A287BJ05_PIG | UniProtKB/TrEMBL | |
A0A4X1SY74_PIG | UniProtKB/TrEMBL | |
A0A4X1SZ06_PIG | UniProtKB/TrEMBL | |
A0A4X1SZY0 | ENTREZGENE | |
A0A4X1T0C5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0PZQ5_PIG | UniProtKB/TrEMBL | |
A0A8D0THM7_PIG | UniProtKB/TrEMBL | |
A0A8D0THN6_PIG | UniProtKB/TrEMBL | |
A0A8D0TJP4_PIG | UniProtKB/TrEMBL | |
A0A8D1RKK2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1RQ57 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1S1A6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1WH62 | ENTREZGENE, UniProtKB/TrEMBL | |
F1SIP0 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | A0A173G6F9 | UniProtKB/TrEMBL |
A0A286ZRC8 | UniProtKB/TrEMBL | |
A0A4X1SZY0 | UniProtKB/TrEMBL | |
VGNC ID | VGNC:104054 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-04-09 | SEPTIN2 | septin 2 | SEPT2 | Symbol and/or name change | 5135510 | APPROVED |