PTDSS2 - phosphatidylserine synthase 2 Gene

Homo sapiens

Also known as PSS2

Gene ID: 81490 | Gene type: protein coding

About PTDSS2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:448,268-491,399 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 198 orthologues and 1 paralogue. Broad expression in testis (RPKM 10.7), kidney (RPKM 4.4) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and Apoptosis. The encoded Enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]

PTDSS2 Products(4)

mRNA	Protein	Name
NM_001329544.2	NP_001316473.1	phosphatidylserine synthase 2 isoform 1
NM_001329545.2	NP_001316474.1	phosphatidylserine synthase 2 isoform 3
NM_001329548.2	NP_001316477.1	phosphatidylserine synthase 2 isoform 4 precursor
NM_030783.3	NP_110410.1	phosphatidylserine synthase 2 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA IDA: Inferred from direct assay	19014349	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phosphatidylserine biosynthetic process	IDA IDA: Inferred from direct assay	19014349	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

PTDSS2 Protein Structure

PSS

0
100
200
300
400
487 a.a.

Protein Preferred Names

Protein Names

phosphatidylserine synthase 2

PSS-2

Related Diseases

Diseases

Alias

Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome	Lenz Majewski Hyperostotic Dwarfism
LMHD	Hyperostotic Dwarfism Lenz-Majewski Type
Lenz-Majewski Hyperostotic Dysplasia	Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis
Lms

Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A	Hmn Viia
Dhmn7a	Neuropathy, Distal Hereditary Motor, Type Viia
Dhmnvp	Harper-Young Myopathy
Distal Hereditary Motor Neuronopathy Type 7a	Distal Hereditary Motor Neuropathy Type Viia
Neuronopathy, Distal Hereditary Motor, Type 7a	Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a	Harper-Young Myopath
Neuronopathy, Distal Hereditary Motor, 7a	Distal Hereditary Motor Neuronopathy Type Viia
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Neuropathy, Motor, Distal, Hereditary, Type Viia

Myasthenic Syndrome, Congenital, 20, Presynaptic

Congenital Myasthenic Syndrome 20	CMS20
Congenital Myasthenic Syndrome 20 Presynaptic	Myasthenic Syndrome, Congenital, Type 20, Presynaptic

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-157562	DS68591889	Antagonist	99.18%	Unkown
HY-RS11362	PTDSS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PTDSS2	VGNC	VGNC:45137
Bos taurus	PTDSS2	VGNC	VGNC:106882
Felis catus	PTDSS2	VGNC	VGNC:64427
Rattus norvegicus	PTDSS2	RGD	RGD:1307914
Mus musculus	PTDSS2	MGD	MGI:1351664

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