SPTLC2 - serine palmitoyltransferase long chain base subunit 2 Gene

Also Known as LCB2; SPT2; HSN1C; LCB2A; NSAN1C; hLCB2a

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9517

About SPTLC2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:77,505,997-77,616,637 (from NCBI)

This gene has 10 transcripts (splice variants), 281 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 11.7), colon (RPKM 11.4) and 25 other tissues.

Summary

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]

SPTLC2 Products (1)

mRNA	Protein	Name
NM_004863.4	NP_004854.1	serine palmitoyltransferase 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19416851	GOA
contributes to serine C-palmitoyltransferase activity	IDA IDA: Inferred from direct assay	25332431	GOA
enables serine C-palmitoyltransferase activity	IDA IDA: Inferred from direct assay	19416851	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within ceramide biosynthetic process	IDA IDA: Inferred from direct assay	25691431	GOA
acts upstream of or within positive regulation of lipophagy	IDA IDA: Inferred from direct assay	25332431	GOA
acts upstream of or within sphingolipid biosynthetic process	IDA IDA: Inferred from direct assay	25332431	GOA
involved in sphingolipid biosynthetic process	IDA IDA: Inferred from direct assay	26573920	GOA
involved in sphingosine biosynthetic process	IDA IDA: Inferred from direct assay	19416851	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of serine palmitoyltransferase complex	IDA IDA: Inferred from direct assay	19416851	GOA
part of serine palmitoyltransferase complex	IPI IPI: Inferred from physical interaction	19416851	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPTLC2 Protein Structure

Aminotran_1_2

0
100
200
300
400
500
562 a.a.

Protein Preferred Names	Protein Names
serine palmitoyltransferase 2	LCB 2

SPTLC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPTLC2	O15270	SPTLC1	Homo sapiens	O15269	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	HSAN1C Hsan Ic Hsn1c Hsn Ic Hereditary Sensory And Autonomic Neuropathy Type 1c Neuropathy, Hereditary Sensory And Autonomic, Type 1c Neuropathy, Hereditary Sensory, Type Ic Hereditary Sensory And Autonomic Neuropathy Type Ic Neuropathy, Hereditary Sensory And Autonomic, 1c Hereditary Sensory Neuropathy Type Ic Neuropathy, Hereditary Sensory/Autonomic, Type Ic Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
Hereditary Sensory And Autonomic Neuropathy Type 1	Hereditary Sensory And Autonomic Neuropathy Type I Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome Hsan1e Hsan1 Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy Hsn1e Hsnie Hereditary Sensory Neuropathy Type Ie Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory And Autonomic Neuropathy Type 1e Hereditary Sensory Neuropathy With Hearing Loss And Dementia Dnmt1-Complex Disorder Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss Hsn Ie Hereditary Sensory Autonomic Neuropathy, Type 1 Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Autonomic Neuropathy	Diabetic Autonomic Neuropathy
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Neuropathy, Hereditary Sensory, Type Ie	HSN1E Hsn Ie Hereditary Sensory Neuropathy Type 1e Hereditary Sensory Neuropathy Type Ie Hsan 1 Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia Hereditary Sensory Neuropathy Type 1 Hsn1 Hereditary Sensory And Autonomic Neuropathy Type 1 Neuropathy Hereditary Sensory And Autonomic Type 1 Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Neuropathy, Hereditary Sensory, 1e Neuropathy Hereditary Sensory With Hearing Loss And Dementia Neuropathy, Hereditary Sensory, Type I Neuropathy, Sensory, Hereditary, Type Ie Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory Autonomic Neuropathy, Type 1
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	HSAN1A Hsan Ia Hsan1 Hsn Ia Hereditary Sensory And Autonomic Neuropathy Type 1a Neuropathy, Hereditary Sensory And Autonomic, Type 1a Neuropathy, Hereditary Sensory, Type Ia Hsn1a Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a Hereditary Sensory And Autonomic Neuropathy Type Ia Neuropathy, Hereditary Sensory And Autonomic, 1a Hereditary Sensory Neuropathy Type Ia Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a Hsn1 Neuropathy, Sensory And Autonomic, Hereditary, Type 1a Hereditary Sensory Autonomic Neuropathy, Type 1
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Hsan1b Hereditary Sensory Neuropathy Type 1b Hsan With Cough And Gastroesophageal Reflux Neuropathy, Hereditary Sensory And Autonomic, Type Ib Neuropathy, Hereditary Sensory, Type Ib Hsn1b Hereditary Sensory Neuropathy Type Ib Hereditary Sensory And Autonomic Neuropathy Type 1b Hereditary Sensory And Autonomic Neuropathy Type 1 With Cough And Gastroesophageal Reflux Hereditary Sensory And Autonomic Neuropathy Type Ib Hereditary Sensory Neuropathy, Type Ib
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Hereditary Sensory And Autonomic Neuropathy Type 7 HSAN7 Hereditary Sensory And Autonomic Neuropathy Type Vii Hsan Vii Cip With Hyperhidrosis And Gastrointestinal Dysfunction Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction Hsan With Hyperhidrosis And Gastrointestinal Dysfunction Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis Neuropathy, Hereditary Sensory And Autonomic, 7 Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis Neuropathy, Sensory And Autonomic, Hereditary, Type Vii
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	HSAN8 Hsan Viii Hereditary Sensory And Autonomic Neuropathy Type 8 Hereditary Sensory And Autonomic Neuropathy Type Viii Neuropathy, Hereditary Sensory And Autonomic, 8 Neuropathy, Sensory And Autonomic, Hereditary, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Iib	HMN2B Hmn Iib Neuropathy, Distal Hereditary Motor, Type Iib Dhmn2b Distal Hereditary Motor Neuropathy Type 2b Distal Hereditary Motor Neuropathy Type Iib Neuronopathy, Distal Hereditary Motor, Type 2b Neuronopathy, Distal Hereditary Motor, 2b Dhmn Ii Neuropathy, Motor, Distal, Hereditary, Type 2b
Neuropathy, Hereditary Sensory, Type Id	HSN1D Hereditary Sensory Neuropathy Type 1d Neuropathy, Hereditary Sensory, Type 1d Neuropathy, Hereditary Sensory, 1d Hereditary Sensory Neuropathy Type Id Neuropathy, Sensory, Hereditary, Type Id
Nephrotic Syndrome, Type 14	Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic Syndrome 14 NPHS14 Splis Nephrotic Syndrome Type 14 Sgpl1 Deficiency Steroid-Resistant Nephrotic Syndrome Type 14 Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Neuronopathy, Distal Hereditary Motor, Type Iic	HMN2C Hmn Iic Dhmn2c Distal Hereditary Motor Neuronopathy Type 2c Distal Hereditary Motor Neuropathy Type Iic Neuronopathy, Distal Hereditary Motor, Type 2c Neuropathy, Distal Hereditary Motor, Type Iic Neuronopathy, Distal Hereditary Motor, 2c Dhmn Iic Neuropathy, Motor, Distal, Hereditary, Type 2c
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Ulceroglandular Tularemia
Charcot-Marie-Tooth Disease, Type 4c	Charcot-Marie-Tooth Disease Type 4c CMT4C Charcot-Marie-Tooth Neuropathy Type 4c Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c Charcot-Marie-Tooth Neuropathy, Type 4c Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c Charcot-Marie-Tooth Disease 4c Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
Neuropathy, Hereditary Sensory And Autonomic, Type V	HSAN5 Hereditary Sensory And Autonomic Neuropathy Type V Hsan V Hereditary Sensory And Autonomic Neuropathy Type 5 Congenital Insensitivity To Pain Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers Hsan Type V Insensitivity To Pain, Congenital Hereditary Sensory And Autonomic Neuropathy, Type 5 Congenital Insensitivity To Pain And Thermal Analgesia Neuropathy, Hereditary Sensory And Autonomic, 5 Hereditary Sensory Neuropathy Type V Hsn V Pain Insensitivity, Congenital Neuropathy, Sensory And Autonomic, Hereditary, Type V Hereditary Sensory Autonomic Neuropathy, Type 5 Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hereditary Sensory And Autonomic Neuropathy Type 6 HSAN6 Hsan Vi Hereditary Sensory And Autonomic Neuropathy Type Vi Familial Dysautonomia With Contractures Neuropathy, Hereditary Sensory And Autonomic, 6 Hereditary Sensory Neuropathy Type Vi Hsn Vi Neuropathy, Sensory And Autonomic, Hereditary, Type Vi
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13737	SPTLC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SPTLC2	VGNC	VGNC:65664
Bos taurus	SPTLC2	VGNC	VGNC:35257
Mus musculus	SPTLC2	MGD	MGI:108074
Rattus norvegicus	SPTLC2	RGD	RGD:1305447
Macaca mulatta	SPTLC2	VGNC	VGNC:77874
Canis familiaris	SPTLC2	VGNC	VGNC:46780
Others	SPTLC2	NCBI