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FLASH GENE

Symbol

SPTLC2

contributors: mct - updated : 22-12-2018

HGNC name	serine palmitoyltransferase, long chain base subunit 2
HGNC id	11278

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HSAN6 hereditary sensory and autonomic neuropathy, type VI
Location	14q24.3      Physical location : 77.973.271 - 78.083.110
Synonym name	long chain base biosynthesis protein 2a
Synonym symbol(s)	LBC2, KIAA0526, SPT2, LCB2A
EC.number	2.3.1.50

DNA

TYPE	functioning gene
STRUCTURE	109.84 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	proximal 335 bp contain initiator and downstream promoter elements, two proximal GC boxes that appear to stimulate transcription in a cooperative manner, and several additional elements whose activity cannot be accounted for by known factor binding sites

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004863 12 - 7250 NP_004854 62.9 562 - 2010 20920666

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach         Lymphoid/Immune lymph node           spleen         Reproductive female system breast mammary gland       female system uterus       Respiratory respiratory tract larynx     highly Urinary kidney

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a peptide sequence motif, signature of Lc62 proteins
	also part of the catalytic domain

HOMOLOGY

interspecies

ortholog to murine Sptlc2

Homologene

FAMILY	aminolevulinate synthetase superfamily
	class-II pyridoxal-phosphate-dependent aminotransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localizes dually to the ER and the outer mitochondrial membrane

basic FUNCTION	initial step in sphingolipid biosynthesis, key enzyme for regulating cellular sphingolipid content
	catalyzes the first and rate-limiting step in the de novo sphingolipid synthesis pathway
	SPTLC2, a subunit of the serine palmitoyltransferase (SPT) complex, catalyzing the first step in de novo sphingolipid synthesis, localizes dually to the ER and the outer mitochondrial membrane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

mitochondrial SPTLC2 interacts and forms a complex in trans with the ER-localized SPT subunit SPTLC1

INTERACTION

DNA

RNA

small molecule

protein

SPTSSA, SPTSSB share a conserved hydrophobic central domain predicted to reside in the membrane, and each interacts with both SPTLC1 and SPTLC2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HSAN6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function deficiency of SPTLC2 induces necrotic lesions in gastrointestinal cells followed by atrophic change of the tissue in short term

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

plasma from Sptlc2 knock-out mice had a significantly stronger potential for promoting cholesterol efflux from macrophages than from wild-type mice because of a greater amount of apoE in the circulation