Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

DDHD2

contributors: mct/shn - updated : 17-03-2021

HGNC name	DDHD domain containing 2
HGNC id	29106

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG54 spastic paraplegia type 54
Location	8p11.23      Physical location : 38.089.008 - 38.120.286
Synonym name	DDHD domain-containing protein 2
	PA-PLA1 like
	SAM, WWE and DDHD domain containing 1
	SAM, WWE and DDHD domain-containing protein 1
	phospholipase DDHD2
	sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1
Synonym symbol(s)	SAMWD1, KIAA0725, SPG54

DNA

TYPE	functioning gene
STRUCTURE	42.34 kb     16 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D8S571 - D8S1722 - DDHD2 - D8S536 - D8S1791 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015214 18 splicing 4723 NP_056029 - 711 - 2002 11788596 NM_001164234 4 splicing 1890 NP_001157706 - 227 - 2002 11788596 NM_001164232 16 splicing 4546 NP_001157704 - 711 - 2002 11788596 NM_001362914 18 - 4735 NP_001349843 - 711 - 2002 11788596 NM_001362913 17 - 4592 NP_001349842 - 681 - 2002 11788596 NM_001362911 18 - 3675 NP_001349840 - 711 - 2002 11788596 NM_001362912 18 - 4649 NP_001349841 - 711 - 2002 11788596

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       lowly Cardiovascular heart       highly Nervous brain       predominantly Homo sapiens   brain limbic system hippocampus     Homo sapiens Reproductive female system ovary     moderately   male system testis     moderately Respiratory lung       highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a WWE, lipase,
	a RIDYXL motif
	a SAM and a C-terminal DDHD domain that contain a minimal region for phosphatidylinositol 4-phosphate (Pl(4)P)-binding

HOMOLOGY

interspecies	ortholog to Ddhd2, Mus musculus
	ortholog to Ddhd2, Rattus norvegicus
	ortholog to DDHD2, Pan troglodytes
	ortholog to ddhd2, Danio rerio

Homologene

FAMILY

phosphatidic acid-preferring phospholipase A(1) protein family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	cis-Golgi and also to the endoplasmic-reticulum (ER)-Golgi intermediate compartment

basic FUNCTION	having a phospholipase A(1) activity preferentially for phosphatidic acid
	playing a role in morphology of organelles
	contributes to efficient membrane trafficking from the Golgi apparatus to the plasma membrane, but is not involved in brefeldin A-induced Golgi-to-endoplasmic reticulum retrograde transport
	required for efficient membrane trafficking from the Golgi apparatus to the plasma membrane
	an essential role in synaptic organization and transmission
	an essential role in lipid metabolism in the central nervous system
	phosphoinositide-binding and phospholipase activity depending on SAM and DDHD domains
	is a principal brain triglyceride lipase
	is a principal triglyceride hydrolase in the central nervous system
	importance of triglyceride metabolism for normal CNS function and the key role of DDHD2 in this process

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	a phosphoinositide-binding protein with a phospholipase activity

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

metal binding,

protein

cell & other

membranes

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG54

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   causes disorganization of the ER and Golgi

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Knockdown of Ddhd2 Drosophila ortholog resulted in a mild but highly significant decrease in active-zone number per synaptic terminal
	genetic deletion of this enzyme in mice leads to ectopic lipid droplet (LD) accumulation in neurons throughout the brain