SPTLC2 (serine palmitoyltransferase long chain base subunit 2) - Rat Genome Database

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Gene: SPTLC2 (serine palmitoyltransferase long chain base subunit 2) Sus scrofa
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Symbol: SPTLC2
Name: serine palmitoyltransferase long chain base subunit 2
RGD ID: 14117549
Description: ENCODES a protein that exhibits acyltransferase activity (inferred); pyridoxal phosphate binding (inferred); serine C-palmitoyltransferase activity (inferred); INVOLVED IN response to immobilization stress (ortholog); PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); COVID-19 (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); serine palmitoyltransferase complex (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: serine palmitoyltransferase 2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7100,544,478 - 100,638,905 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17100,545,360 - 100,638,973 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27106,672,604 - 106,730,716 (+)NCBISscrofa10.2Sscrofa10.2susScr3
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SPTLC2PigCOVID-19  ISOSPTLC2 (Homo sapiens)9068941mRNA:increased expression:peripheral blood mononuclear cell (human)RGDPMID:32228226 and REF_RGD_ID:28912744
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SPTLC2PigCharcot-Marie-Tooth disease  ISOSPTLC2 (Homo sapiens)8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth diseaseClinVarPMID:17081983 more ...
SPTLC2Piggenetic disease  ISOSPTLC2 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:17576681 more ...
SPTLC2Pighereditary sensory and autonomic neuropathy type 1C  ISOSPTLC2 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:16199547 more ...
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SPTLC2Pigpsoriasis  ISOSptlc2 (Mus musculus)9068941OMIM:177900 more ...MouseDO 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SPTLC2Pighereditary sensory and autonomic neuropathy type 1C  ISOSPTLC2 (Homo sapiens)7240710 OMIM 


Biological Process
1 to 13 of 13 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SPTLC2Pigadipose tissue development involved_inIEAUniProtKB:P97363 and ensembl:ENSMUSP00000021424150520179 EnsemblGO_REF:0000107
SPTLC2Pigbiosynthetic process involved_inIEAInterPro:IPR004839150520179 InterProGO_REF:0000002
SPTLC2Pigceramide biosynthetic process involved_inIBAMGI:108074 more ...150520179 GO_CentralGO_REF:0000033
SPTLC2Pigceramide biosynthetic process acts_upstream_of_or_withinIEAUniProtKB:O15270 more ...150520179 EnsemblGO_REF:0000107
SPTLC2Pigpositive regulation of lipophagy acts_upstream_of_or_withinIEAUniProtKB:O15270 and ensembl:ENSP00000216484150520179 EnsemblGO_REF:0000107
SPTLC2Pigresponse to immobilization stress  ISOSptlc2 (Rattus norvegicus)9068941 RGDPMID:34449011 and REF_RGD_ID:213230152
SPTLC2Pigsphinganine biosynthetic process acts_upstream_of_or_withinIEAUniProtKB:P97363 and ensembl:ENSMUSP00000021424150520179 EnsemblGO_REF:0000107
SPTLC2Pigsphingolipid biosynthetic process acts_upstream_of_or_withinIEAUniProtKB:O15270 and ensembl:ENSP00000216484150520179 EnsemblGO_REF:0000107
SPTLC2Pigsphingolipid biosynthetic process involved_inIEAUniProtKB:P97363 and ensembl:ENSMUSP00000021424150520179 EnsemblGO_REF:0000107
SPTLC2Pigsphingomyelin biosynthetic process acts_upstream_of_or_withinIEAUniProtKB:P97363 and ensembl:ENSMUSP00000021424150520179 EnsemblGO_REF:0000107
SPTLC2Pigsphingosine biosynthetic process involved_inIBAMGI:108074 more ...150520179 GO_CentralGO_REF:0000033
SPTLC2Pigsphingosine biosynthetic process acts_upstream_of_or_withinIEAUniProtKB:P97363 and ensembl:ENSMUSP00000021424150520179 EnsemblGO_REF:0000107
SPTLC2Pigsphingosine biosynthetic process involved_inIEAUniProtKB:O15270 and ensembl:ENSP00000216484150520179 EnsemblGO_REF:0000107
1 to 13 of 13 rows

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SPTLC2Pigmembrane located_inIEAGO:0006686 more ...150520179 GOCGO_REF:0000108
SPTLC2Pigserine palmitoyltransferase complex part_ofIBAPANTHER:PTN000343811 more ...150520179 GO_CentralGO_REF:0000033
SPTLC2Pigserine palmitoyltransferase complex part_ofIEAUniProtKB:O15270 and ensembl:ENSP00000216484150520179 EnsemblGO_REF:0000107

Molecular Function

  

Imported Annotations - SMPDB

PMID:14681463   PMID:22301074   PMID:30032202  



SPTLC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7100,544,478 - 100,638,905 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17100,545,360 - 100,638,973 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27106,672,604 - 106,730,716 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPTLC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381477,505,997 - 77,616,637 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1477,505,997 - 77,616,637 (-)EnsemblGRCh38hg38GRCh38
GRCh371477,972,340 - 78,082,980 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361477,043,023 - 77,152,863 (-)NCBINCBI36Build 36hg18NCBI36
Build 341477,043,024 - 77,152,863NCBI
Celera1458,011,851 - 58,121,636 (-)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1458,138,337 - 58,249,054 (-)NCBIHuRef
CHM1_11477,911,814 - 78,022,586 (-)NCBICHM1_1
T2T-CHM13v2.01471,715,382 - 71,825,999 (-)NCBIT2T-CHM13v2.0
Sptlc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391287,351,832 - 87,435,129 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1287,351,832 - 87,435,129 (-)EnsemblGRCm39 Ensembl
GRCm381287,305,058 - 87,388,355 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1287,305,058 - 87,388,355 (-)EnsemblGRCm38mm10GRCm38
MGSCv371288,648,839 - 88,729,180 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361288,196,992 - 88,277,333 (-)NCBIMGSCv36mm8
Celera1288,772,417 - 88,852,773 (-)NCBICelera
Cytogenetic Map12D2NCBI
cM Map1241.52NCBI
Sptlc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86112,679,623 - 112,762,470 (-)NCBIGRCr8
mRatBN7.26106,948,682 - 107,031,532 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6106,950,949 - 107,031,542 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6107,116,961 - 107,199,840 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06107,415,779 - 107,498,659 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06106,785,468 - 106,868,346 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06111,334,408 - 111,417,960 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6111,339,136 - 111,417,954 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06120,616,251 - 120,699,243 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46111,546,037 - 111,622,959 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16111,245,978 - 111,626,585 (-)NCBI
Celera6104,771,427 - 104,849,755 (-)NCBICelera
Cytogenetic Map6q31NCBI
Sptlc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554381,385,431 - 1,491,578 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554381,385,431 - 1,491,534 (-)NCBIChiLan1.0ChiLan1.0
SPTLC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21578,591,247 - 78,702,589 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11477,807,751 - 77,918,929 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01458,066,123 - 58,170,472 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11477,266,545 - 77,370,663 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1477,266,545 - 77,370,663 (-)Ensemblpanpan1.1panPan2
SPTLC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1850,291,797 - 50,401,202 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl850,271,010 - 50,401,313 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha849,979,477 - 50,088,850 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0850,525,698 - 50,635,391 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl850,530,838 - 50,635,427 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1850,188,135 - 50,297,514 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0850,211,301 - 50,320,641 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0850,609,185 - 50,719,362 (-)NCBIUU_Cfam_GSD_1.0
LOC101967158
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864025,664,744 - 25,778,794 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364886,315,715 - 6,419,882 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0 EnsemblNW_0049364886,289,833 - 6,296,849 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364886,313,189 - 6,404,425 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPTLC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12454,769,072 - 54,876,963 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605342,955,305 - 43,064,586 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sptlc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473424,281,482 - 24,400,870 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in SPTLC2
3326 total Variants



alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
10 4 23 3 2 5 14 12 23 3 6 3



Ensembl Acc Id: ENSSSCT00000064054   ⟹   ENSSSCP00000045377
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl7100,544,478 - 100,638,905 (-)Ensembl
RefSeq Acc Id: XM_021099554   ⟹   XP_020955213
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.17100,545,360 - 100,638,973 (-)NCBI
Sequence:
1 to 13 of 13 rows
Protein RefSeqs XP_020955213 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSSSCP00000045377
  ENSSSCP00000045377.1
  ENSSSCP00015018742.1
  ENSSSCP00025039556.1
  ENSSSCP00030019926.1
  ENSSSCP00035014715.1
  ENSSSCP00040010261.1
  ENSSSCP00045041548.1
  ENSSSCP00050029130.1
  ENSSSCP00060001246.1
  ENSSSCP00065044907.1
  ENSSSCP00070009893.1
1 to 13 of 13 rows
RefSeq Acc Id: XP_020955213   ⟸   XM_021099554
- UniProtKB: A0A4X1T2C0 (UniProtKB/TrEMBL),   F1SE08 (UniProtKB/TrEMBL),   A0A8D0NHS0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSSSCP00000045377   ⟸   ENSSSCT00000064054


1 to 40 of 41 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSSSCG00000002404 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSSSCG00015035547 UniProtKB/TrEMBL
  ENSSSCG00025065785 UniProtKB/TrEMBL
  ENSSSCG00030031970 UniProtKB/TrEMBL
  ENSSSCG00035027897 UniProtKB/TrEMBL
  ENSSSCG00040017885 UniProtKB/TrEMBL
  ENSSSCG00045034596 UniProtKB/TrEMBL
  ENSSSCG00050049928 UniProtKB/TrEMBL
  ENSSSCG00060003063 UniProtKB/TrEMBL
  ENSSSCG00065073986 UniProtKB/TrEMBL
  ENSSSCG00070006284 UniProtKB/TrEMBL
Ensembl Transcript ENSSSCT00000064054 ENTREZGENE
  ENSSSCT00000064054.3 UniProtKB/TrEMBL
  ENSSSCT00015047364.1 UniProtKB/TrEMBL
  ENSSSCT00025090290.1 UniProtKB/TrEMBL
  ENSSSCT00030044230.1 UniProtKB/TrEMBL
  ENSSSCT00035036910.1 UniProtKB/TrEMBL
  ENSSSCT00040024176.1 UniProtKB/TrEMBL
  ENSSSCT00045059294.1 UniProtKB/TrEMBL
  ENSSSCT00050067922.1 UniProtKB/TrEMBL
  ENSSSCT00060003779.1 UniProtKB/TrEMBL
  ENSSSCT00065101887.1 UniProtKB/TrEMBL
  ENSSSCT00070012007.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/TrEMBL
InterPro Aminotrans_II_pyridoxalP_BS UniProtKB/TrEMBL
  Aminotransferase_I/II UniProtKB/TrEMBL
  AON_synthase_class-II UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/TrEMBL
NCBI Gene SPTLC2 ENTREZGENE
PANTHER CLASS II AMINOTRANSFERASE/8-AMINO-7-OXONONANOATE SYNTHASE UniProtKB/TrEMBL
  SERINE PALMITOYLTRANSFERASE 2 UniProtKB/TrEMBL
Pfam Aminotran_1_2 UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_2 UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/TrEMBL
UniProt A0A4X1T2C0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D0NHS0 ENTREZGENE, UniProtKB/TrEMBL
  F1SE08 ENTREZGENE, UniProtKB/TrEMBL
1 to 40 of 41 rows