2. Gene
  3. PLD3 - phospholipase D family member 3 Gene

PLD3 - phospholipase D family member 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AD19; HUK4; HU-K4; SCA46

Gene ID: 23646 | Gene type: protein coding

About PLD3

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,348,695-40,378,485 (from NCBI)

This gene has 48 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 96.3), spleen (RPKM 74.5) and 25 other tissues.

Summary

This gene encodes a member of the Phospholipase D (PLD) family of Enzymes that catalyze the hydrolysis of membrane Phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

PLD3 Products(3)

mRNA Protein Name
NM_001031696.4 NP_001026866.1 5'-3' exonuclease PLD3
NM_001291311.2 NP_001278240.1 5'-3' exonuclease PLD3
NM_012268.4 NP_036400.2 5'-3' exonuclease PLD3

PLD3 Protein Structure

PLDc_3

PLDc_3: PLD-like domain (223 - 402)

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  • 490 a.a.
Protein Preferred Names Protein Names

5'-3' exonuclease PLD3

choline phosphatase 3

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 46

SCA46

Spinocerebellar Ataxia, 46, Autosomal Dominant, With Sensory Axonal Neuropathy

Spinocerebellar Ataxia Type 46
Acute Hemorrhagic Conjunctivitis

Viral Conjunctivitis

Conjunctivitis, Acute Hemorrhagic

Apollo Disease

Epidemic Hemorrhagic Conjunctivitis

Viral Conjunctiva Disorder

Viral Conjunctivitis Nos
Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc
Conjunctival Folliculosis

Acute Follicular Conjunctivitis
Acute Conjunctivitis
Cerebellar Ataxia Type 41

Sca41
Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7

NPHS7

Nephrotic Syndrome Type 7

Ig-Mediated Membranoproliferative Glomerulonephritis

Ig-Mediated Mpgn

Immunoglobulin-Mediated Mpgn

Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical 7

Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis

Hemolytic Uremic Syndrome With Dgke Deficiency

Hus With Dgke Deficiency

Hemolytic Uremic Syndrome Atypical 7

AHUS7

Nephrotic Syndrome 7

Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis
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
Spinocerebellar Ataxia, Autosomal Recessive 21

SCAR21

Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy

Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome

Calfan

Autosomal Recessive Spinocerebellar Ataxia 21

Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy

Autosomal Recessive Spinocerebellar Ataxia Type 21

Spinocerebellar Ataxia, Autosomal Recessive, 21

Calfan Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 23

SCAR23

Autosomal Recessive Spinocerebellar Ataxia 23

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency

Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 23

Spinocerebellar Ataxia, Autosomal Recessive, 23

Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
Cerebellar Ataxia Type 43

Sca43
Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Inclusion Conjunctivitis

Chlamydial Conjunctivitis

Inclusion Blennorrhoea

Paratrachoma

Adult Inclusion Conjunctivitis

Inclusion Blenorrhea

Conjunctivitis, Inclusion

Neonatal Chlamydial Conjunctivitis

Inclusion Conjunctivitis Of The Adult

Chronic Conjunctivitis Due To Chlamydia Trachomatis

Inclusion Conjunctivitis Due To Chlamydia Trachomatis

Acute Follicular Conjunctivitis, Chlamydial

Adult Chlamydial Keratoconjunctivitis
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 (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10672 PLD3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PLD3 RGD RGD:1308248
Canis familiaris PLD3 VGNC VGNC:44662
Macaca mulatta PLD3 VGNC VGNC:76041
Bos taurus PLD3 VGNC VGNC:32997
Mus musculus PLD3 MGD MGI:1333782
Felis catus PLD3 VGNC VGNC:64213