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

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: mouse all
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Genomic context

Location:: 8p11.23

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38231585..38273647)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (38508534..38550602)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (38089103..38120354)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.
Title: Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.
DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.
Title: DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.
Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Title: Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Circular RNA circRUNX1 promotes papillary thyroid cancer progression and metastasis by sponging MiR-296-3p and regulating DDHD2 expression.
Title: Circular RNA circRUNX1 promotes papillary thyroid cancer progression and metastasis by sponging MiR-296-3p and regulating DDHD2 expression.
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.
Title: Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.
Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.
Title: Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.
The identification of nine novel variants expands the molecular spectrum of DDHD2-related hereditary spastic paraplegia
Title: Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
The protective role of DDHD2 for mitochondrial integrity and provide a clue to the pathogenic mechanism of SPG54.
Title: Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.
A set of HSP-related mutations in DDHD2 disrupt triglyceride hydrolase activity in vitro and impair the capacity of DDHD2 to protect cells from lipid droplet accumulation after exposure to free fatty acid.Genetic inactivation of DDHD2 from HSP-associated mutations perturbs lipid homeostasis and the formation and content of LDs. DDHD2 plays a role in triglyceride metabolism for normal CNS function.
Title: Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.
Truncating mutation has been found in the DDHD2 gene in a large consanguineous family with hereditary spastic paraplegia and intellectual disability.
Title: Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary spastic paraplegia 54 MedGen: C3539495 OMIM: 615033 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

L17688 (e-PCR)
- UniSTS:74509

WI-15923 (e-PCR)
- UniSTS:5679

D8S2279 (e-PCR)
- UniSTS:473907

AFM265zf9 (e-PCR), detects polymorphism
- UniSTS:85085

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

D8S536 (e-PCR)
- UniSTS:12736

RH15846 (e-PCR)
- UniSTS:22245

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables triglyceride 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

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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)

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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

NG_033875.2 RefSeqGene

Range

5002..36253

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164232.2 → NP_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:379 → 447

SAM_DDHD2; SAM domain of DDHD2

pfam02825
Location:42 → 112

WWE; WWE domain

pfam02862
Location:498 → 699

DDHD; DDHD domain
NM_001164234.2 → NP_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:42 → 99

WWE; WWE domain
NM_001362911.2 → NP_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:379 → 447

SAM_DDHD2; SAM domain of DDHD2

pfam02825
Location:42 → 112

WWE; WWE domain

pfam02862
Location:498 → 699

DDHD; DDHD domain
NM_001362912.2 → NP_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:379 → 447

SAM_DDHD2; SAM domain of DDHD2

pfam02825
Location:42 → 112

WWE; WWE domain

pfam02862
Location:498 → 699

DDHD; DDHD domain
NM_001362913.2 → NP_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:349 → 417

SAM_DDHD2; SAM domain of DDHD2

pfam02825
Location:42 → 112

WWE; WWE domain

pfam02862
Location:468 → 669

DDHD; DDHD domain
NM_001362914.2 → NP_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:379 → 447

SAM_DDHD2; SAM domain of DDHD2

pfam02825
Location:42 → 112

WWE; WWE domain

pfam02862
Location:498 → 699

DDHD; DDHD domain
NM_015214.3 → NP_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:379 → 447

SAM_DDHD2; SAM domain of DDHD2

pfam02825
Location:42 → 112

WWE; WWE domain

pfam02862
Location:498 → 699

DDHD; DDHD domain