1. Gene
  2. CERS2 - ceramide synthase 2 Gene

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

CERS2 Protein Structure

Homeobox

Homeobox: Homeobox domain (82 - 126)

TRAM_LAG1_CLN8

TRAM_LAG1_CLN8: TLC domain (132 - 325)

  • 0
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  • 200
  • 300
  • 380 a.a.
Protein Preferred Names Protein Names

ceramide synthase 2

LAG1 homolog, ceramide synthase 2

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

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