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

    Gene ID: 23259, updated on 28-Oct-2024

    Summary

    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; AllianceGenome:HGNC:29106
    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; p125B; SAMWD1; iPLA1A; iPLA1gamma; 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
    NEW
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    Genomic context

    See DDHD2 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38231585..38273647)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38508534..38550602)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38089103..38120354)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38032979-38033836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38033837-38034694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27245 Neighboring gene RNA, U6 small nuclear 323, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27246 Neighboring gene LSM1 homolog, mRNA degradation associated Neighboring gene BAG cochaperone 4 Neighboring gene Sharpr-MPRA regulatory region 4585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38089405-38089904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19119 Neighboring gene phospholipid phosphatase 5 Neighboring gene nuclear receptor binding SET domain protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19120 Neighboring gene NUP98-NSD3 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27247 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38235530-38236031 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38238312-38238846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38239137-38239927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38242638-38243268 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:38243269-38243898 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38244052-38244553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19125 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38247000-38247501 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38248280-38248781 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38257600-38258101 Neighboring gene uncharacterized LOC102723716 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38261681-38262180 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38262831-38263332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38269931-38270603 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 2 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38270604-38271277 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38272896-38273666 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38274107-38274772 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38275681-38276444 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38277305-38277806 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38277908-38278453 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38278454-38278998 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38278999-38279544 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38279545-38280088 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38280202-38280702 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38280703-38281203 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38282951-38283642 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38285189-38286186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38287183-38288180 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38289284-38289961 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38289962-38290638 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38292133-38292640 Neighboring gene fibroblast growth factor receptor 1 Neighboring gene ribosomal protein S20 pseudogene 22

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables triacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in lipid droplet organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitochondrial fission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033875.2 RefSeqGene

      Range
      5002..36253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164232.2NP_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, AC087362, AK125904, BM510691
      Consensus CDS
      CCDS34883.1
      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
      UniProtKB/TrEMBL
      B3KPM6
      Related
      ENSP00000429932.2, ENST00000520272.6
      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_001164234.2NP_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
      UniProtKB/TrEMBL
      E9PKE6
      Related
      ENST00000519857.5
      Conserved Domains (1) summary
      pfam02825
      Location:4299
      WWE; WWE domain
    3. NM_001362911.2NP_001349840.1  phospholipase DDHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AB018268, AK056525, AK125904, BM510691, DA412370
      Consensus CDS
      CCDS34883.1
      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
      UniProtKB/TrEMBL
      B3KPM6
      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_001362912.2NP_001349841.1  phospholipase DDHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AB018268, AK056525, AK125904, BM510691, BM698122, DA412370, DA531740
      Consensus CDS
      CCDS34883.1
      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
      UniProtKB/TrEMBL
      B3KPM6
      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_001362913.2NP_001349842.1  phospholipase DDHD2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AB018268, AC087362, AK056525, AK125904, BM510691, DA412370, DN989297
      UniProtKB/TrEMBL
      B3KPM6
      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_001362914.2NP_001349843.1  phospholipase DDHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AB018268, AC084024, AC087362, AK056525, AK125904, BM510691
      Consensus CDS
      CCDS34883.1
      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
      UniProtKB/TrEMBL
      B3KPM6
      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_015214.3NP_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, AC087362, AK056525, AK125904, BM510691, DA412370
      Consensus CDS
      CCDS34883.1
      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
      UniProtKB/TrEMBL
      B3KPM6
      Related
      ENSP00000380352.2, ENST00000397166.7
      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_156416.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB018268, AC087362, AK056525, AK125904, BM510691, BM684667, DA412370, DA758753
    2. NR_156417.2 RNA Sequence

      Status: REVIEWED

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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      38231585..38273647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544456.3XP_011542758.1  phospholipase DDHD2 isoform X1

      See identical proteins and their annotated locations for XP_011542758.1

      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
      UniProtKB/TrEMBL
      B3KPM6
      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_047421614.1XP_047277570.1  phospholipase DDHD2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
    3. XM_047421615.1XP_047277571.1  phospholipase DDHD2 isoform X2

    4. XM_047421616.1XP_047277572.1  phospholipase DDHD2 isoform X2

    5. XM_047421617.1XP_047277573.1  phospholipase DDHD2 isoform X2

    RNA

    1. XR_007060723.1 RNA Sequence

    2. XR_007060724.1 RNA Sequence

    3. XR_001745504.3 RNA Sequence

    4. XR_007060726.1 RNA Sequence

    5. XR_007060725.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      38508534..38550602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360184.1XP_054216159.1  phospholipase DDHD2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
    2. XM_054360185.1XP_054216160.1  phospholipase DDHD2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWV2, B3KXB5, O94830, Q9H8X7
    3. XM_054360186.1XP_054216161.1  phospholipase DDHD2 isoform X2

    4. XM_054360187.1XP_054216162.1  phospholipase DDHD2 isoform X2

    5. XM_054360188.1XP_054216163.1  phospholipase DDHD2 isoform X2

    RNA

    1. XR_008487830.1 RNA Sequence

    2. XR_008487831.1 RNA Sequence

    3. XR_008487833.1 RNA Sequence

    4. XR_008487829.1 RNA Sequence

    5. XR_008487832.1 RNA Sequence