CERS2 - ceramide synthase 2 Gene

Homo sapiens

Also known as L3; LASS2; SP260; TMSG1

Gene ID: 29956 | Gene type: protein coding

About CERS2

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:150,965,186-150,974,835 (from NCBI)

This gene has 14 transcripts (splice variants), 275 orthologues and 5 paralogues. Ubiquitous expression in liver (RPKM 113.9), adrenal (RPKM 85.4) and 25 other tissues.

Summary

This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

CERS2 Products(2)

mRNA	Protein	Name
NM_022075.5	NP_071358.1	ceramide synthase 2
NM_181746.4	NP_859530.1	ceramide synthase 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11543633	GOA
enables sphingosine N-acyltransferase activity	IDA IDA: Inferred from direct assay	17977534	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ceramide biosynthetic process	IDA IDA: Inferred from direct assay	17977534	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18165233	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

CERS2 Protein Structure

Homeobox

TRAM_LAG1_CLN8

0
100
200
300
380 a.a.

Protein Preferred Names

Protein Names

ceramide synthase 2

LAG1 homolog, ceramide synthase 2

CERS2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CERS2	Q96G23	ASGR1	Homo sapiens	P07306	Y2H	11543633
Intra	CERS2	Q96G23	ASGR1	Homo sapiens	P07306	Pull Down	11543633
Intra	CERS2	Q96G23	ASGR2	Homo sapiens	P07307	Y2H	21988832
Intra	CERS2	Q96G23	ASGR2	Homo sapiens	P07307	Y2H	11543633
Intra	CERS2	Q96G23	ASGR2	Homo sapiens	P07307	Pull Down	11543633
Intra	CERS2	Q96G23	SLC22A1	Homo sapiens	O15245	Y2H	11543633
Intra	CERS2	Q96G23	ATP6V0C	Homo sapiens	P27449	Pull Down	11543633
Intra	CERS2	Q96G23	ATP6V0C	Homo sapiens	P27449	Y2H	21988832
Intra	CERS2	Q96G23	ATP6V0C	Homo sapiens	P27449	Y2H	11543633
Intra	CERS2	Q96G23	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myoclonic Epilepsy, Juvenile 3

Myoclonic Epilepsy, Juvenile, Susceptibility To, 3	EJM3
Epilepsy, Juvenile Myoclonic 3	Juvenile Myoclonic Epilepsy 3

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]

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-133490A	ST1074	Inducer	/	Unkown
HY-RS02537	CERS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CERS2	VGNC	VGNC:70946
Felis catus	CERS2	VGNC	VGNC:60792
Mus musculus	CERS2	MGD	MGI:1924143
Bos taurus	CERS2	VGNC	VGNC:27224
Rattus norvegicus	CERS2	RGD	RGD:1310059
Canis familiaris	CERS2	VGNC	VGNC:39148

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