DDHD2 - DDHD domain containing 2 Gene
Also Known as SPG54; p125B; SAMWD1; iPLA1A; iPLA1gamma; iPLA(1)gamma
Species: Homo sapiens
About DDHD2
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 domain (42 - 112)
SAM_1: SAM domain (Sterile alpha motif) (393 - 440)
DDHD: DDHD domain (495 - 700)
- 0
- 200
- 400
- 600
- 711 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
phospholipase DDHD2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paraplegia 54, Autosomal Recessive |
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| Hereditary Spastic Paraplegia |
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| Body Mass Index Quantitative Trait Locus 11 |
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| Paraplegia |
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| Spastic Paraplegia 28, Autosomal Recessive |
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| Spastic Paraplegia 82, Autosomal Recessive |
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| Spastic Paraplegia 73, Autosomal Dominant |
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| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
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| Spastic Paraplegia 45, Autosomal Recessive |
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| Spastic Paraplegia 62, Autosomal Recessive |
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| Sjogren-Larsson Syndrome |
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| Hereditary Spastic Paraplegia 35 |
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| Spastic Paraplegia 77, Autosomal Recessive |
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| Oliver-Mcfarlane Syndrome |
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| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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| Hereditary Spastic Paraplegia 49 |
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| Spastic Paraplegia 26, Autosomal Recessive |
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| Laurence-Moon Syndrome |
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| Spastic Paraplegia 2, X-Linked |
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| Spastic Paraplegia 14, Autosomal Recessive |
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| Gordon Holmes Syndrome |
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| Motor Neuron Disease |
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| Lenz-Majewski Hyperostotic Dwarfism |
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| Masa Syndrome |
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| Spasticity |
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| Spastic Ataxia |
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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 |