ENSG00000100596


Homo sapiens

Features
Gene ID: ENSG00000100596
  
Biological name :SPTLC2
  
Synonyms : O15270 / serine palmitoyltransferase long chain base subunit 2 / SPTLC2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q24.3
Gene start: 77505997
Gene end: 77616773
  
Corresponding Affymetrix probe sets: 203127_s_at (Human Genome U133 Plus 2.0 Array)   203128_at (Human Genome U133 Plus 2.0 Array)   216202_s_at (Human Genome U133 Plus 2.0 Array)   216203_at (Human Genome U133 Plus 2.0 Array)   225095_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452189
Ensembl peptide - ENSP00000216484
Ensembl peptide - ENSP00000451029
NCBI entrez gene - 9517     See in Manteia.
OMIM - 605713
RefSeq - XM_011537384
RefSeq - NM_004863
RefSeq Peptide - NP_004854
swissprot - H0YJV2
swissprot - A0A024R6H1
swissprot - O15270
swissprot - H0YJ96
Ensembl - ENSG00000100596
  
Related genetic diseases (OMIM): 613640 - Neuropathy, hereditary sensory and autonomic, type IC, 613640
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sptlc2aENSDARG00000018976Danio rerio
 sptlc2bENSDARG00000074287Danio rerio
 SPTLC2ENSGALG00000031928Gallus gallus
 P97363ENSMUSG00000021036Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NUV7 / SPTLC3 / serine palmitoyltransferase long chain base subunit 3ENSG0000017229668


Protein motifs (from Interpro)
Interpro ID Name
 IPR001917  Aminotransferase, class-II, pyridoxal-phosphate binding site
 IPR004839  Aminotransferase, class I/classII
 IPR015421  Pyridoxal phosphate-dependent transferase, major domain
 IPR015422  Pyridoxal phosphate-dependent transferase domain 1
 IPR015424  Pyridoxal phosphate-dependent transferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IEA
 biological_processGO:0006686 sphingomyelin biosynthetic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009058 biosynthetic process IEA
 biological_processGO:0030148 sphingolipid biosynthetic process IDA
 biological_processGO:0046511 sphinganine biosynthetic process IEA
 biological_processGO:0046512 sphingosine biosynthetic process IEA
 biological_processGO:0046513 ceramide biosynthetic process IDA
 biological_processGO:1904504 positive regulation of lipophagy IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0017059 serine C-palmitoyltransferase complex IDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004758 serine C-palmitoyltransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IEA


Pathways (from Reactome)
Pathway description
Sphingolipid de novo biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000970 Anhidrosis "Inability to sweat." [HPO:curators]
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 HP:0001218 Autoamputation 
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 HP:0001760 Abnormality of the feet "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators]
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0002754 Osteomyelitis 
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 HP:0002936 Distal sensory impairment 
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 HP:0006984 Distal sensory loss of all modalities 
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 HP:0007141 Sensorimotor neuropathy 
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 HP:0012534 Dysesthesia "Abnormal sensations with no apparent physical cause that are painful or unpleasant." [ORCID:0000-0001-5208-3432]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000165389 Q969W0 / SPTSSA / serine palmitoyltransferase small subunit A  / complex
 ENSG00000196542 Q8NFR3 / SPTSSB / serine palmitoyltransferase small subunit B  / complex
 ENSG00000090054 O15269 / SPTLC1 / serine palmitoyltransferase long chain base subunit 1  / complex






 

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