DDHD2 - DDHD domain containing 2 Gene

Also Known as SPG54; p125B; SAMWD1; iPLA1A; iPLA1gamma; iPLA(1)gamma

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23259

About DDHD2

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:38,231,585-38,273,647 (from NCBI)

This gene has 24 transcripts (splice variants), 232 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 15.7), fat (RPKM 12.4) and 25 other tissues.

Summary

This gene encodes a Phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

DDHD2 Products (7)

mRNA Protein Name
NM_001164232.2 NP_001157704.1 phospholipase DDHD2 isoform 1
NM_001164234.2 NP_001157706.1 phospholipase DDHD2 isoform 2
NM_001362911.2 NP_001349840.1 phospholipase DDHD2 isoform 1
NM_001362912.2 NP_001349841.1 phospholipase DDHD2 isoform 1
NM_001362913.2 NP_001349842.1 phospholipase DDHD2 isoform 3
NM_001362914.2 NP_001349843.1 phospholipase DDHD2 isoform 1
NM_015214.3 NP_056029.2 phospholipase DDHD2 isoform 1

DDHD2 Protein Structure

WWE

WWE: WWE domain (42 - 112)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (393 - 440)

DDHD

DDHD: DDHD domain (495 - 700)

  • 0
  • 200
  • 400
  • 600
  • 711 a.a.
Protein Preferred Names Protein Names

phospholipase DDHD2

  • PA-PLA1 like

Related Diseases

Diseases Alias
Spastic Paraplegia 54, Autosomal Recessive
  • SPG54

  • Hereditary Spastic Paraplegia 54

  • Autosomal Recessive Spastic Paraplegia Type 54

  • Autosomal Recessive Spastic Paraplegia 54

  • Paraplegia, Spastic, Type 54, Autosomal Recessive

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Paraplegia
  • Paraplegia, Lower

  • Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 28, Autosomal Recessive
  • SPG28

  • Hereditary Spastic Paraplegia 28

  • Autosomal Recessive Spastic Paraplegia Type 28

  • Autosomal Recessive Spastic Paraplegia 28

  • Paraplegia, Spastic, Type 28, Autosomal Recessive

Spastic Paraplegia 82, Autosomal Recessive
  • SPG82

  • Hereditary Spastic Paraplegia 82

  • Spastic Paraplegia 82 Autosomal Recessive

  • Doid:0112343

Spastic Paraplegia 73, Autosomal Dominant
  • SPG73

  • Hereditary Spastic Paraplegia 73

  • Autosomal Dominant Spastic Paraplegia Type 73

  • Autosomal Dominant Spastic Paraplegia 73

  • Paraplegia, Spastic, Autosomal Dominant, Type 73

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
  • Megdel Syndrome

  • MEGDEL

  • Mgca6

  • 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel

  • 3-Methylglutaconic Aciduria, Type Vi

  • Serac1 Defect

  • 3-Methylglutaconic Aciduria Type 6

  • 3-Mgca Type Iv

  • 3-Mgca-4

  • 3-Methylglutaconic Aciduria Type Vi

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel Syndrome

  • 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Spastic Paraplegia 45, Autosomal Recessive
  • SPG45

  • Hereditary Spastic Paraplegia 45

  • Autosomal Recessive Spastic Paraplegia Type 45

  • Autosomal Recessive Spastic Paraplegia Type 65

  • Spg65

  • Autosomal Recessive Spastic Paraplegia 45

  • Paraplegia, Spastic, Type 45, Autosomal Recessive

Spastic Paraplegia 62, Autosomal Recessive
  • SPG62

  • Hereditary Spastic Paraplegia 62

  • Autosomal Recessive Spastic Paraplegia Type 62

  • Spastic Paraplegia 62

  • Autosomal Recessive Spastic Paraplegia 62

  • Paraplegia, Spastic, Type 62

Sjogren-Larsson Syndrome
  • Sjögren-Larsson Syndrome

  • SLS

  • Faldh Deficiency

  • Fatty Aldehyde Dehydrogenase Deficiency

  • Fatty Acid Alcohol Oxidoreductase Deficiency

  • Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia

  • Sjogren Larsson Syndrome

  • Fatty Alcohol:Nad+ Oxidoreductase Deficiency

  • Sjogren-Larsson'S Syndrome

  • Fadh Deficiency

  • Fao Deficiency

  • Congenital Icthyosis Mental Retardation Spasticity Syndrome

  • Ichthyosis Oligophrenia Syndrome

  • Sjoegren-Larsson Syndrome

Hereditary Spastic Paraplegia 35
  • Autosomal Recessive Spastic Paraplegia Type 35

  • Spg35

  • Autosomal Recessive Spastic Paraplegia 35

  • Fahn

  • Fatty Acid Hydroxylase-Associated Neurodegeneration

  • Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia 77, Autosomal Recessive
  • SPG77

  • Hereditary Spastic Paraplegia 77

  • Autosomal Recessive Spastic Paraplegia 77

  • Autosomal Recessive Spastic Paraplegia Type 77

Oliver-Mcfarlane Syndrome
  • Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

  • OMCS

  • Long Eyelashes-Intellectual Disability Syndrome

  • Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina

  • Eyelashes, Long, With Mental Retardation

  • Eyelashes Long Mental Retardation

  • Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration

  • Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina

  • Eyelashes, Long With Intellectual Disability

  • Oliver Mcfarlane Syndrome

  • Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature

  • Trichomegaly, Retina Pigmentary Degeneration, Dwarfism

  • Trichomegaly Retina Pigmentary Degeneration Dwarfism

Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
  • Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome

  • SMDCRD

  • Smd-Crd

  • Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy

Hereditary Spastic Paraplegia 49
  • Autosomal Recessive Spastic Paraplegia Type 49

  • Autosomal Recessive Spastic Paraplegia 49

  • Spg49

  • Paraplegia, Spastic, Type 49, Autosomal Recessive

Spastic Paraplegia 26, Autosomal Recessive
  • SPG26

  • Hereditary Spastic Paraplegia 26

  • Autosomal Recessive Spastic Paraplegia Type 26

  • Gm2 Synthase Deficiency

  • Spastic Paraplegia 26

  • Autosomal Recessive Spastic Paraplegia 26

  • Paraplegia, Spastic, Autosomal Recessive, Type 26

Laurence-Moon Syndrome
  • LNMS

  • Laurence-Moon-Biedl Syndrome

Spastic Paraplegia 2, X-Linked
  • SPG2

  • Hereditary Spastic Paraplegia 2

  • Sppx2

  • Spastic Paraplegia Type 2

  • Spastic Paraplegia 2

  • Hereditary X-Linked Recessive Spastic Paraplegia

  • X-Linked Spastic Paraplegia 2

  • X Linked Recessive Hereditary Spastic Paraplegia

  • Spastic Gait Type 2

  • Spastic Paraparesis Type 2

  • X-Linked Spastic Paraplegia Type 2

  • Spastic Paraplegia Type 2, X-Linked

  • Spastic Paraplegia-2

  • Paraplegia, Spastic, Type 2

Spastic Paraplegia 14, Autosomal Recessive
  • SPG14

  • Hereditary Spastic Paraplegia 14

  • Autosomal Recessive Spastic Paraplegia Type 14

  • Autosomal Recessive Spastic Paraplegia 14

  • Spastic Paraplegia 14

Gordon Holmes Syndrome
  • Cerebellar Ataxia And Hypogonadotropic Hypogonadism

  • Lhrh Deficiency And Ataxia

  • Cerebellar Ataxia-Hypogonadism Syndrome

  • GDHS

  • Cahh

  • Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

  • Gordon-Holmes Syndrome

  • Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

  • Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

  • Cerebellar Ataxia - Hypogonadism

  • Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

  • Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

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

Masa Syndrome
  • L1 Syndrome

  • Crash Syndrome

  • X-Linked Hydrocephalus Syndrome

  • SPG1

  • Gareis-Mason Syndrome

  • Spastic Paraplegia 1, X-Linked

  • Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

  • L1cam Syndrome

  • Spastic Paraplegia 1

  • Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

  • Clasped Thumb And Mental Retardation

  • Thumb, Congenital Clasped, With Mental Retardation

  • Adducted Thumb With Mental Retardation

  • Hereditary Spastic Paraplegia 1

  • X-Linked Complicated Hereditary Spastic Paraplegia Type 1

  • X-Linked Corpus Callosum Agenesis

  • X-Linked Spastic Paraplegia 1

  • L1 Disease

  • X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

  • Adducted Thumb With Intellectual Disability

  • Clasped Thumb And Intellectual Disability

  • Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

  • Thumb Congenital Clasped With Intellectual Disability

  • X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

  • Adducted Thumbs-Mental Retardation Syndrome

  • Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

  • Mental Retardation-Clasped Thumb Syndrome

  • Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

  • Spastic Paraplegia Type 1, X-Linked

  • MASA

  • Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

  • Crash

  • Masa Syndrome

Spasticity
Spastic Ataxia
  • Spax

  • Ataxia, Spastic

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
Felis catus DDHD2 VGNC VGNC:78480
Bos taurus DDHD2 VGNC VGNC:27944
Canis familiaris DDHD2 VGNC VGNC:39833
Mus musculus DDHD2 MGD MGI:1919358
Rattus norvegicus DDHD2 RGD RGD:1585818
Macaca mulatta DDHD2 VGNC VGNC:83992
Others DDHD2 NCBI