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Gene : DDHD2 Homo sapiens

Name  ? DDHD domain containing 2 Cytological Location  8p11.23
Brief Description  DDHD domain containing 2
Description  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]
  • synonyms:
  • SPG54,
  • NM_015214,
  • DDHD2,
  • AK056525,
  • OTTHUMG00000164095,
  • SPG54,
  • iPLA(1)gamma,
  • SAM, WWE and DDHD domain containing 1,
  • SAMWD1,
  • uc003xlb.4,
  • KIAA0725,
  • HGNC:29106,
  • SAMWD1
  • identifiers:
  • 23259,
  • ENSG00000085788,
  • DDHD2

Genome feature

Region: gene ? Length: 42432  
Location: 8:38231491-38273922 Cyto location: 8p11.23

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results