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DDHD2 DDHD domain containing 2 [ Homo sapiens (human) ]

Gene ID: 23259, updated on 14-Jun-2018
Official Symbol
DDHD2provided by HGNC
Official Full Name
DDHD domain containing 2provided by HGNC
Primary source
HGNC:HGNC:29106
See related
Ensembl:ENSG00000085788 MIM:615003; Vega:OTTHUMG00000164095
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPG54; SAMWD1; iPLA(1)gamma
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]
Expression
Ubiquitous expression in brain (RPKM 15.7), fat (RPKM 12.4) and 25 other tissues See more
Orthologs
See DDHD2 in Genome Data Viewer
Location:
8p11.23
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (38231491..38273922)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38088861..38120351)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 323, pseudogene Neighboring gene LSM1 homolog, mRNA degradation associated Neighboring gene BCL2 associated athanogene 4 Neighboring gene phospholipid phosphatase 5 Neighboring gene nuclear receptor binding SET domain protein 3 Neighboring gene NUP98-NSD3 recombination region Neighboring gene uncharacterized LOC102723716 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PA, organism-specific biosystem (from REACTOME)
    Synthesis of PA, organism-specific biosystemIn the de novo synthesis of phosphatidic acid (PA), lysophosphatidic acid (LPA) is initially formed by the esterification of sn-1 by glycerol 3-phosphate acyltransferase (GPAT) from glycerol 3-phosph...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0725

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid particle organization IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitochondrial fission IEA
Inferred from Electronic Annotation
more info
 
triglyceride catabolic process IEA
Inferred from Electronic Annotation
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPII-coated ER to Golgi transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
Preferred Names
phospholipase DDHD2
Names
PA-PLA1 like
SAM, WWE and DDHD domain-containing protein 1
intracellular phospholipase A1gamma
sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033875.1 RefSeqGene

    Range
    5001..36279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164232.1NP_001157704.1  phospholipase DDHD2 isoform 1

    See identical proteins and their annotated locations for NP_001157704.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AB018268, AK125904, BM510691
    Consensus CDS
    CCDS34883.1
    UniProtKB/Swiss-Prot
    O94830
    Related
    ENSP00000429932.2, OTTHUMP00000225880, ENST00000520272.6, OTTHUMT00000377253
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  2. NM_001164234.1NP_001157706.1  phospholipase DDHD2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' coding exons and its 3' terminal exon extends past a splice junction that is used in variant 1, resulting in a different 3' coding region and 3' UTR. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC084024, BI789108, DA333302
    Related
    ENSP00000433578.1, OTTHUMP00000228499, ENST00000532222.5, OTTHUMT00000381959
    Conserved Domains (1) summary
    pfam02825
    Location:4299
    WWE; WWE domain
  3. NM_001362911.1NP_001349840.1  phospholipase DDHD2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB018268, AK056525, AK125904, BM510691, DA412370
    Consensus CDS
    CCDS34883.1
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  4. NM_001362912.1NP_001349841.1  phospholipase DDHD2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB018268, AK056525, AK125904, BM510691, BM698122, DA412370, DA531740
    Consensus CDS
    CCDS34883.1
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  5. NM_001362913.1NP_001349842.1  phospholipase DDHD2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB018268, AK056525, AK125904, BM510691, DA412370, DN989297
    Conserved Domains (3) summary
    cd09585
    Location:349417
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:468669
    DDHD; DDHD domain
  6. NM_001362914.1NP_001349843.1  phospholipase DDHD2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB018268, AC084024, AK056525, AK125904, BM510691
    Consensus CDS
    CCDS34883.1
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  7. NM_015214.2NP_056029.2  phospholipase DDHD2 isoform 1

    See identical proteins and their annotated locations for NP_056029.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AB018268, AK056525, AK125904, BM510691, DA412370
    Consensus CDS
    CCDS34883.1
    UniProtKB/Swiss-Prot
    O94830
    UniProtKB/TrEMBL
    B3KPM6
    Related
    ENSP00000380352.2, OTTHUMP00000225879, ENST00000397166.6, OTTHUMT00000377251
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain

RNA

  1. NR_156416.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB018268, AK056525, AK125904, BM510691, BM684667, DA412370, DA758753
  2. NR_156417.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB018268, AK056525, AK125904, BM510691, DA412370, DA758753

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    38231491..38273922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544456.2XP_011542758.1  phospholipase DDHD2 isoform X1

    See identical proteins and their annotated locations for XP_011542758.1

    UniProtKB/Swiss-Prot
    O94830
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  2. XM_005273455.4XP_005273512.1  phospholipase DDHD2 isoform X1

    UniProtKB/Swiss-Prot
    O94830
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  3. XM_005273454.3XP_005273511.1  phospholipase DDHD2 isoform X1

    UniProtKB/Swiss-Prot
    O94830
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  4. XM_005273456.4XP_005273513.1  phospholipase DDHD2 isoform X2

    Conserved Domains (3) summary
    cd09585
    Location:349417
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:468669
    DDHD; DDHD domain
  5. XM_017013252.1XP_016868741.1  phospholipase DDHD2 isoform X1

    UniProtKB/Swiss-Prot
    O94830
    Conserved Domains (3) summary
    cd09585
    Location:379447
    SAM_DDHD2; SAM domain of DDHD2
    pfam02825
    Location:42112
    WWE; WWE domain
    pfam02862
    Location:498699
    DDHD; DDHD domain
  6. XM_017013255.2XP_016868744.1  phospholipase DDHD2 isoform X3

    UniProtKB/Swiss-Prot
    O94830
    Related
    ENSP00000429017.1, OTTHUMP00000225882, ENST00000517385.5
    Conserved Domains (3) summary
    smart00454
    Location:166
    SAM; Sterile alpha motif
    pfam02862
    Location:117318
    DDHD; DDHD domain
    cl15755
    Location:166
    SAM_superfamily; SAM (Sterile alpha motif )
  7. XM_017013254.2XP_016868743.1  phospholipase DDHD2 isoform X3

    UniProtKB/Swiss-Prot
    O94830
    Conserved Domains (3) summary
    smart00454
    Location:166
    SAM; Sterile alpha motif
    pfam02862
    Location:117318
    DDHD; DDHD domain
    cl15755
    Location:166
    SAM_superfamily; SAM (Sterile alpha motif )
  8. XM_017013256.2XP_016868745.1  phospholipase DDHD2 isoform X3

    UniProtKB/Swiss-Prot
    O94830
    Conserved Domains (3) summary
    smart00454
    Location:166
    SAM; Sterile alpha motif
    pfam02862
    Location:117318
    DDHD; DDHD domain
    cl15755
    Location:166
    SAM_superfamily; SAM (Sterile alpha motif )

RNA

  1. XR_001745504.2 RNA Sequence

  2. XR_001745506.2 RNA Sequence

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