1. Gene
  2. DDHD2 - DDHD domain containing 2 Gene

DDHD2 - DDHD domain containing 2 Gene

Homo sapiens

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

Gene ID: 23259 | Gene type: protein coding

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