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Aliases for SPTLC2 Gene

Aliases for SPTLC2 Gene

  • Serine Palmitoyltransferase Long Chain Base Subunit 2 2 3 5
  • Long Chain Base Biosynthesis Protein 2a 3 4
  • Serine-Palmitoyl-CoA Transferase 2 3 4
  • LCB 2 3 4
  • SPT 2 3 4
  • LCB2 3 4
  • Serine Palmitoyltransferase, Subunit II 3
  • Long Chain Base Biosynthesis Protein 2 4
  • Serine Palmitoyltransferase 2 3
  • EC 2.3.1.50 4
  • KIAA0526 4
  • NSAN1C 3
  • HLCB2a 3
  • HSN1C 3
  • LCB2A 3
  • LCB2a 4
  • SPT2 3

External Ids for SPTLC2 Gene

Previous GeneCards Identifiers for SPTLC2 Gene

  • GC14M075479
  • GC14M071790
  • GC14M075963
  • GC14M077043
  • GC14M077973
  • GC14M058139

Summaries for SPTLC2 Gene

Entrez Gene Summary for SPTLC2 Gene

  • This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]

GeneCards Summary for SPTLC2 Gene

SPTLC2 (Serine Palmitoyltransferase Long Chain Base Subunit 2) is a Protein Coding gene. Diseases associated with SPTLC2 include Neuropathy, Hereditary Sensory And Autonomic, Type Ic and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity. An important paralog of this gene is SPTLC3.

UniProtKB/Swiss-Prot for SPTLC2 Gene

  • Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.

Gene Wiki entry for SPTLC2 Gene

Additional gene information for SPTLC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTLC2 Gene

Genomics for SPTLC2 Gene

GeneHancer (GH) Regulatory Elements for SPTLC2 Gene

Promoters and enhancers for SPTLC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J077614 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 661.1 +0.6 551 2.7 HDGF PKNOX1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 SPTLC2 SNW1 VIPAS39 ALKBH1 RPL22P2 ADCK1 ZMYND19P1 RPL21P10 IRF2BPL RN7SL587P
GH14J077597 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.4 +19.5 19471 0.1 SPTLC2 RN7SL587P
GH14J077580 Enhancer 1.2 Ensembl ENCODE dbSUPER 27.1 +35.0 34951 2.8 PKNOX1 SMAD1 NFIB ZFP64 FEZF1 BATF IRF4 ZNF213 ZNF366 ATF7 SPTLC2 RPL21P10 ALKBH1 SNW1 VIPAS39 VASH1 ZMYND19P1 ENSG00000259081 RPL22P2 NGB
GH14J077588 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 22.2 +25.2 25213 7 NFIB JUN BMI1 ZNF205 ZNF121 GATA3 EED ATF7 ETV6 IKZF2 SPTLC2 ADCK1 RPL21P10 SNW1 RN7SL587P
GH14J077565 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +51.0 50972 1.6 HLF FOS SPTLC2 GSTZ1 POMT2 SNW1 RN7SL587P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPTLC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPTLC2 gene promoter:
  • RORalpha1
  • ZID
  • Elk-1
  • C/EBPbeta
  • Lhx3a
  • LHX3b
  • C/EBPalpha
  • STAT1
  • Pax-6

Genomic Locations for SPTLC2 Gene

Genomic Locations for SPTLC2 Gene
chr14:77,505,997-77,616,773
(GRCh38/hg38)
Size:
110,777 bases
Orientation:
Minus strand
chr14:77,972,340-78,083,116
(GRCh37/hg19)
Size:
110,777 bases
Orientation:
Minus strand

Genomic View for SPTLC2 Gene

Genes around SPTLC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTLC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPTLC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTLC2 Gene

Proteins for SPTLC2 Gene

  • Protein details for SPTLC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15270-SPTC2_HUMAN
    Recommended name:
    Serine palmitoyltransferase 2
    Protein Accession:
    O15270
    Secondary Accessions:
    • Q16685

    Protein attributes for SPTLC2 Gene

    Size:
    562 amino acids
    Molecular mass:
    62924 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB).
    SequenceCaution:
    • Sequence=BAA25452.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SPTLC2 Gene

Post-translational modifications for SPTLC2 Gene

  • Ubiquitination at isoforms=161
  • Modification sites at PhosphoSitePlus

Other Protein References for SPTLC2 Gene

No data available for DME Specific Peptides for SPTLC2 Gene

Domains & Families for SPTLC2 Gene

Gene Families for SPTLC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SPTLC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15270

UniProtKB/Swiss-Prot:

SPTC2_HUMAN :
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with SPTLC2: view

Function for SPTLC2 Gene

Molecular function for SPTLC2 Gene

UniProtKB/Swiss-Prot Function:
Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2).

Enzyme Numbers (IUBMB) for SPTLC2 Gene

Phenotypes From GWAS Catalog for SPTLC2 Gene

Gene Ontology (GO) - Molecular Function for SPTLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004758 serine C-palmitoyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with SPTLC2: view
genes like me logo Genes that share phenotypes with SPTLC2: view

Human Phenotype Ontology for SPTLC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPTLC2 Gene

MGI Knock Outs for SPTLC2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPTLC2

CRISPR Products

miRNA for SPTLC2 Gene

miRTarBase miRNAs that target SPTLC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTLC2

No data available for Transcription Factor Targets and HOMER Transcription for SPTLC2 Gene

Localization for SPTLC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTLC2 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPTLC2 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
cytosol 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SPTLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPTLC2: view

Pathways & Interactions for SPTLC2 Gene

genes like me logo Genes that share pathways with SPTLC2: view

Pathways by source for SPTLC2 Gene

UniProtKB/Swiss-Prot O15270-SPTC2_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for SPTLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006686 sphingomyelin biosynthetic process IEA --
GO:0008152 metabolic process IEA --
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with SPTLC2: view

No data available for SIGNOR curated interactions for SPTLC2 Gene

Drugs & Compounds for SPTLC2 Gene

(6) Drugs for SPTLC2 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Serine Approved Nutra Full agonist, Agonist, Target Weak endogenous glycine receptor agonist 1104
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Coenzyme A Investigational Nutra 0
Myriocin Pharma 0

(4) Additional Compounds for SPTLC2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-dehydro-D-Sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-amino-1-Hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
hexadecanoyl-CoA
  • coenzyme A, S-Hexadecanoate
  • Palmitoyl coenzyme A
  • S-Palmitoylcoenzyme A
  • coenzyme A, S-Hexadecanoic acid
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme A
  • Palmitoyl-CoA
1763-10-6
genes like me logo Genes that share compounds with SPTLC2: view

Transcripts for SPTLC2 Gene

mRNA/cDNA for SPTLC2 Gene

Unigene Clusters for SPTLC2 Gene

Serine palmitoyltransferase, long chain base subunit 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTLC2

Alternative Splicing Database (ASD) splice patterns (SP) for SPTLC2 Gene

No ASD Table

Relevant External Links for SPTLC2 Gene

GeneLoc Exon Structure for
SPTLC2
ECgene alternative splicing isoforms for
SPTLC2

Expression for SPTLC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPTLC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPTLC2 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for SPTLC2 Gene

This gene is overexpressed in Bone (15.0), Peripheral blood mononuclear cells (13.8), and Breast (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPTLC2 Gene



Protein tissue co-expression partners for SPTLC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPTLC2 Gene:

SPTLC2

SOURCE GeneReport for Unigene cluster for SPTLC2 Gene:

Hs.435661

mRNA Expression by UniProt/SwissProt for SPTLC2 Gene:

O15270-SPTC2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SPTLC2 Gene

  • Nervous system(4.7)
  • Pancreas(4.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTLC2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with SPTLC2: view

Orthologs for SPTLC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPTLC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPTLC2 34 33
  • 99.58 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTLC2 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTLC2 34 33
  • 92.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sptlc2 16 34 33
  • 90.83 (n)
cow
(Bos Taurus)
Mammalia SPTLC2 34 33
  • 90.73 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptlc2 33
  • 89.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPTLC2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPTLC2 34 33
  • 79.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTLC2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptlc2 33
  • 73.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2338 33
zebrafish
(Danio rerio)
Actinopterygii sptlc2b 34
  • 75 (a)
OneToMany
sptlc2a 34 33
  • 72.45 (n)
OneToMany
Dr.16885 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007941 33
  • 59.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta lace 34 35 33
  • 59 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sptl-2 34 33
  • 57.79 (n)
ManyToMany
F43H9.2a 35
  • 55 (a)
F43H9.2b 35
  • 55 (a)
T22G5.5 35
  • 49 (a)
sptl-3 34
  • 45 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02134g 33
  • 53.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB2 36 34 33
  • 53.31 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR127C 33
  • 52.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons LCB2 33
  • 56.59 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2016 33
rice
(Oryza sativa)
Liliopsida Os01g0928800 33
  • 56.82 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.2702 33
corn
(Zea mays)
Liliopsida Zm.13752 33
barley
(Hordeum vulgare)
Liliopsida Hv.11007 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToMany
Cin.835 33
bread mold
(Neurospora crassa)
Ascomycetes NCU00447 33
  • 55.24 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lcb2 33
  • 52.82 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.835 33
Species where no ortholog for SPTLC2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SPTLC2 Gene

ENSEMBL:
Gene Tree for SPTLC2 (if available)
TreeFam:
Gene Tree for SPTLC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPTLC2: view image

Paralogs for SPTLC2 Gene

Paralogs for SPTLC2 Gene

(1) SIMAP similar genes for SPTLC2 Gene using alignment to 4 proteins:

  • SPTC2_HUMAN
  • H0YJ96_HUMAN
  • H0YJV2_HUMAN
  • L8E997_HUMAN

Pseudogenes.org Pseudogenes for SPTLC2 Gene

genes like me logo Genes that share paralogs with SPTLC2: view

Variants for SPTLC2 Gene

Sequence variations from dbSNP and Humsavar for SPTLC2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs10132095 benign, Hereditary sensory and autonomic neuropathy type IC 77,507,639(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10147023 benign, Hereditary sensory and autonomic neuropathy type IC 77,509,582(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1027765004 uncertain-significance, Hereditary sensory and autonomic neuropathy type IC 77,616,739(-) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1042510037 uncertain-significance, Hereditary sensory and autonomic neuropathy type IC 77,506,266(-) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1063270 benign, Hereditary sensory and autonomic neuropathy type IC 77,508,760(-) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SPTLC2 Gene

Variant ID Type Subtype PubMed ID
esv2759998 CNV gain 17122850
esv3309823 CNV mobile element insertion 20981092
esv3340561 CNV insertion 20981092
esv3358343 CNV insertion 20981092
esv3635007 CNV loss 21293372
esv7096 OTHER inversion 19470904
nsv1051554 CNV loss 25217958
nsv1053810 CNV gain 25217958
nsv1118537 CNV duplication 24896259
nsv832835 CNV gain 17160897
nsv85432 CNV deletion 16902084

Variation tolerance for SPTLC2 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPTLC2 Gene

Human Gene Mutation Database (HGMD)
SPTLC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPTLC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTLC2 Gene

Disorders for SPTLC2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SPTLC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPTC2_HUMAN
  • Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. {ECO:0000269 PubMed:20920666, ECO:0000269 PubMed:23658386}. Note=The disease is caused by mutations affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386). {ECO:0000269 PubMed:23658386}.

Additional Disease Information for SPTLC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPTLC2: view

No data available for Genatlas for SPTLC2 Gene

Publications for SPTLC2 Gene

  1. Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. (PMID: 9363775) Weiss B … Stoffel W (European journal of biochemistry 1997) 2 3 4 22 58
  2. Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase. (PMID: 8921873) Nagiec MM … Dickson RC (Gene 1996) 2 3 4 22 58
  3. Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. (PMID: 23658386) Murphy SM … Reilly MM (Neurology 2013) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. (PMID: 20920666) Rotthier A … Timmerman V (American journal of human genetics 2010) 3 4 58

Products for SPTLC2 Gene

Sources for SPTLC2 Gene

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