Seroatlas · Human Serome Atlas

DDHD2

Triacylglycerol hydrolase DDHD2

Also known as: DDHD2_HUMAN, iPLA1gamma, KIAA0725, p125B, SAMWD1, SPG54

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O94830
Gene
DDHD2
Ensembl
ENSG00000085788
Chromosome
8
Canonical length
711 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Centriolar satellite,Cytosol
Quaternary structure
Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

711 residues, UniProt reviewed canonical sequence.

>O94830|DDHD2
     1  MSSVQSQQEQ LSQSDPSPSP NSCSSFELID MDAGSLYEPV SPHWFYCKII DSKETWIPFN
    61  SEDSQQLEEA YSSGKGCNGR VVPTDGGRYD VHLGERMRYA VYWDELASEV RRCTWFYKGD
   121  KDNKYVPYSE SFSQVLEETY MLAVTLDEWK KKLESPNREI IILHNPKLMV HYQPVAGSDD
   181  WGSTPTEQGR PRTVKRGVEN ISVDIHCGEP LQIDHLVFVV HGIGPACDLR FRSIVQCVND
   241  FRSVSLNLLQ THFKKAQENQ QIGRVEFLPV NWHSPLHSTG VDVDLQRITL PSINRLRHFT
   301  NDTILDVFFY NSPTYCQTIV DTVASEMNRI YTLFLQRNPD FKGGVSIAGH SLGSLILFDI
   361  LTNQKDSLGD IDSEKDSLNI VMDQGDTPTL EEDLKKLQLS EFFDIFEKEK VDKEALALCT
   421  DRDLQEIGIP LGPRKKILNY FSTRKNSMGI KRPAPQPASG ANIPKESEFC SSSNTRNGDY
   481  LDVGIGQVSV KYPRLIYKPE IFFAFGSPIG MFLTVRGLKR IDPNYRFPTC KGFFNIYHPF
   541  DPVAYRIEPM VVPGVEFEPM LIPHHKGRKR MHLELREGLT RMSMDLKNNL LGSLRMAWKS
   601  FTRAPYPALQ ASETPEETEA EPESTSEKPS DVNTEETSVA VKEEVLPINV GMLNGGQRID
   661  YVLQEKPIES FNEYLFALQS HLCYWESEDT VLLVLKEIYQ TQGIFLDQPL Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DDHD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 48 nTPM
  • cerebral cortex: 38 nTPM
  • cerebellum: 37 nTPM
  • midbrain: 35 nTPM
  • tongue: 33 nTPM
  • basal ganglia: 31 nTPM

Single-cell type

  • epicardial cells: 218 nCPM
  • cardiomyocytes: 166 nCPM
  • adipocytes: 113 nCPM
  • retinal pigment epithelial cells: 107 nCPM
  • fibro-adipogenic progenitors: 86 nCPM
  • early primary spermatocytes: 85 nCPM

Immune cell

  • NK-cell: 17 nTPM
  • T-reg: 16 nTPM
  • naive B-cell: 15 nTPM
  • memory CD8 T-cell: 12 nTPM
  • MAIT T-cell: 12 nTPM
  • gdT-cell: 11 nTPM

Brain region

  • white matter: 91 nTPM
  • pons: 85 nTPM
  • cerebral cortex: 85 nTPM
  • cerebellum: 82 nTPM
  • medulla oblongata: 80 nTPM
  • thalamus: 79 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DDHD2.

Disease | AllUniProt

Conditions DDHD2 is implicated in, by any mechanism.

  • Spastic paraplegia 54, autosomal recessive (SPG54) MIM:615033

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 383 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.77
gnomAD pLI
0
gnomAD missense Z
1.07
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DDHD2 as an antibody target. Whether an autoantibody or antibody against DDHD2 could matter depends on whether native DDHD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DDHD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DDHD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DDHD2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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