Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 115 | | ISO | SPNS2 (Homo sapiens) | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 115 | | ISO | SPNS2 (Homo sapiens) | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:16141072 | PMID:16141073 | PMID:18799693 | PMID:19074308 | PMID:21084291 | PMID:21267068 |
PMID:21677750 | PMID:21873635 | PMID:22406534 | PMID:22664872 | PMID:22723910 | PMID:22876197 | PMID:23103166 | PMID:23180825 | PMID:23870131 | PMID:24652767 | PMID:25356849 | PMID:26324848 |
PMID:27626380 | PMID:27841869 | PMID:28052056 | PMID:28538737 | PMID:29452570 | PMID:30484906 | PMID:30973865 | PMID:31202927 | PMID:31570118 | PMID:32245826 | PMID:33334894 | PMID:33785361 |
PMID:33953184 | PMID:34240614 | PMID:34260944 | PMID:35977478 | PMID:35988880 | PMID:36198832 | PMID:37552762 |
Spns2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SPNS2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spns2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spns2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SPNS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SPNS2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spns2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SPNS2 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SPNS2 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spns2 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Spns2
1202 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 |
RH136313 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH125539 |
|
RefSeq Transcripts | NM_001276383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_153060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006532934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006532935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006532936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017314460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_388404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB441166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK156007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL662812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC025823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000045303 ⟹ ENSMUSP00000044418 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000126452 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000129274 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000144940 ⟹ ENSMUSP00000120722 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000147418 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000150491 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001276383 ⟹ NP_001263312 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_153060 ⟹ NP_694700 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006532934 ⟹ XP_006532997 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006532935 ⟹ XP_006532998 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006532936 ⟹ XP_006532999 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017314460 ⟹ XP_017169949 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XR_388404 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
Protein RefSeqs | NP_001263312 | (Get FASTA) | NCBI Sequence Viewer |
NP_694700 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006532997 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006532998 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006532999 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017169949 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH11467 | (Get FASTA) | NCBI Sequence Viewer |
AAH25823 | (Get FASTA) | NCBI Sequence Viewer | |
BAE33543 | (Get FASTA) | NCBI Sequence Viewer | |
BAH15193 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12684 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12685 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12686 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000044418 | ||
ENSMUSP00000044418.4 | |||
ENSMUSP00000120722.2 | |||
GenBank Protein | Q91VM4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_694700 ⟸ NM_153060 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q5F242 (UniProtKB/Swiss-Prot), B9A1T4 (UniProtKB/Swiss-Prot), Q8R119 (UniProtKB/Swiss-Prot), Q91VM4 (UniProtKB/Swiss-Prot), Q3U1F5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001263312 ⟸ NM_001276383 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q3U1F5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006532998 ⟸ XM_006532935 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006532997 ⟸ XM_006532934 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006532999 ⟸ XM_006532936 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_017169949 ⟸ XM_017314460 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q5F242 (UniProtKB/Swiss-Prot), B9A1T4 (UniProtKB/Swiss-Prot), Q8R119 (UniProtKB/Swiss-Prot), Q91VM4 (UniProtKB/Swiss-Prot), Q3U1F5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000120722 ⟸ ENSMUST00000144940 |
RefSeq Acc Id: | ENSMUSP00000044418 ⟸ ENSMUST00000045303 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q91VM4-F1-model_v2 | AlphaFold | Q91VM4 | 1-549 | view protein structure |
RGD ID: | 8675442 | ||||||||
Promoter ID: | EPDNEW_M15752 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Spns2_1 | ||||||||
Description: | Mus musculus spinster homolog 2 , transcript variant 1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | MGI:2384936 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000040447 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000045303 | ENTREZGENE |
ENSMUST00000045303.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000144940.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1250.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | MFS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MFS_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MFS_spinster-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MFS_trans_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:216892 | UniProtKB/Swiss-Prot |
MGD | MGI:2384936 | ENTREZGENE |
NCBI Gene | 216892 | ENTREZGENE |
PANTHER | PROTEIN SPINSTER HOMOLOG 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR23505 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | MFS_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Spns2 | PhenoGen |
PROSITE | MFS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF103473 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B9A1T4 | ENTREZGENE |
F6WK70_MOUSE | UniProtKB/TrEMBL | |
Q3U1F5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5F242 | ENTREZGENE | |
Q8R119 | ENTREZGENE | |
Q91VM4 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B9A1T4 | UniProtKB/Swiss-Prot |
Q5F242 | UniProtKB/Swiss-Prot | |
Q8R119 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2022-10-25 | Spns2 | SPNS lysolipid transporter 2, sphingosine-1-phosphate | Spns2 | spinster homolog 2 | Symbol and/or name change | 5135510 | APPROVED |
2012-07-17 | Spns2 | spinster homolog 2 | Spns2 | spinster homolog 2 (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |