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

Home Page

FLASH GENE

Symbol

DDX4

contributors: mct - updated : 09-12-2009

HGNC name	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4
HGNC id	18700

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q11.2      Physical location : 55.033.844 - 55.112.973
Synonym name	VASA protein
	DEAD box protein 4
Synonym symbol(s)	VASA, MGC111074
EC.number	3.6.4.13

DNA

TYPE	functioning gene
STRUCTURE	79.13 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif

repetitive sequence   ALU   long interspersed repetitive elements

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001142549 21 - 2778 NP_001136021 - 690 - 2008 18534994 NM_001166533 21 - 2466 NP_001160005 - 704 - 2008 18534994 NM_001166534 15 - 2379 NP_001160006 - 575 - 2008 18534994 NM_024415 22 - 2880 NP_077726 - 724 - 2008 18534994

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 Reproductive female system ovary       Homo sapiens   male system testis       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ cell Homo sapiens

cell lineage	germ cell lineage in both sexes
cell lines
fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	ovary, testis, germ cell, gonadal ridge, migratory primordial

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	eight conserved domains directly involved in RNA helicase activity
	a DEAD/H box (Asp-Glu-Ala-Asp/His)

HOMOLOGY

interspecies

homolog to Drosophila vasa

Homologene

FAMILY	DEAD box helicase family
	DDX4/VASA subfamily

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	located on the cytoplasmic membrane of heads and tails of spermatozoa

basic FUNCTION	required for germ cell development and function, as well as for embryonic somatic posterior patterning
	germ cell lineage specific marker, that may either play a direct role in the progression of epithelial ovarian cancer or serve as a valuable marker of tumorigenesis
	in germ-cells, showed a differential pattern of expression throughout the differentiation and proliferative phase and prophase I
	modulates the RNA structure, which is a crucial step in many fundamental biological processes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

reproduction/sex

text	germ cell development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule
	ATP binding

protein	interaction with EIF5B (this interaction with the general translation factor eIF5B is essential for DDX4 function during development)
	TDRD7 bind and stimulate the germline-specific DEAD-box RNA helicase DDX4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   decreased in oligozoospermic men tumoral     --over   in germ cell tumor

Susceptibility

to idiopathic azoospermia or severe oligospermia

Variant & Polymorphism other	tissue-specific differentially methylated regions of DDX4 are potentially associated with maturation arrest phenotype in the testis and in idiopathic azoospermia or severe oligospermia

Candidate gene	could be used as a molecular marker for the diagnosis of male infertility
Marker
Therapy target

ANIMAL & CELL MODELS