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FLASH GENE

Symbol

TDRD7

contributors: mct - updated : 26-10-2018

HGNC name	tudor domain containing 7
HGNC id	29303

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three copies of the LOTUS domain (domain found in germline-specific proteins that are present in the nuage/polar granules of germ cells) in its extreme N-terminus
	a TUDOR domain binding symmetric dimethyl arginines present on the germ cell-specific Piwi proteins, which form a particular clade of Argonaute proteins
	C-terminal two tudor-like domains.

HOMOLOGY

Homologene

FAMILY

tudor domain containing gene family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,cytosolic,granule
text	localizes to chromatoid bodies

basic FUNCTION	tandem tudor domain protein that is expressed in male germ cells and localizes to chromatoid bodies
	essential for haploid spermatid development and with TDRD6, are key biogenesis processes of chromatoid bodies
	TDRD7 and TDRD6 constitute a spermiogenic class of tudor family genes, which function in a sequential and nonredundant manner
	TDRD7 and TDRD6, play key roles in the early ribonucleoprotein remodeling and later structural maintenance, respectively
	essential for early spermatid differentiation and is a master regulator of the biogenesis of chromatoid bodies
	essential for dynamic ribonucleoprotein (RNP) remodeling of chromatoid bodies during spermatogenesis
	TDRD5 and TDRD7, play key roles in facilitating the function of PIWIs by acting as scaffolds
	TDRD5-TDRD7 are required for spermiogenesis
	TDRD5, TDRD7, RNF17 proteins play distinct roles during male germ cell development
	TDRD7 plays an essential role in the maturation of autophagosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associates with the N-terminal domain of PCTAIRE 2 (CDK17) through its C-terminal domain which contains two tudor-like domains, and is a physiological partner of CDK17 in terminally differentiated neurons
	TDRD7 bind and stimulate the germline-specific DEAD-box RNA helicase DDX4
	TDRD7 might directly bind to TBC1D20 mRNAs and downregulate its expression, which is a key regulator of autophagosome maturation, resulting in the disruption of autophagosome maturation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARCC7 , CCNOA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       causing cataracts and glaucoma, which become severe with age

Susceptibility

to age-related cataract (ARC)

Variant & Polymorphism other	rs10981985 G&
	8201;&
	8594;&
	8201;A variant within the TDRD7 gene may protect against cortical age-related cataract (ARC)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS