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FLASH GENE

Symbol

NME8

contributors: mct - updated : 12-11-2017

HGNC name	NME/NM23 family member 8
HGNC id	16473

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ICS6 immotile cilia syndrome 6
Location	7p14.1      Physical location : -
Synonym name	NM23-H8
	sperm-specific thioredoxin 2
	thioredoxin domain containing 3 (spermatozoa)
	epididymis secretory protein Li 99
Synonym symbol(s)	SPTRX2, SPTRX-2, CILD6, TXNDC3, NM23-H8, HEL-S-99

DNA

TYPE	functioning gene
STRUCTURE	51.80 kb     15 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

between D7S485 and D7S528

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016616 18 - 2327 NP_057700 - 588 - 2003 12909633

EXPRESSION

Type	restricted

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 male system testis       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatid Reproductive spermatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a thioredoxin domain
	three tandemly repeated NDP-kinase domains
	several potential phosphorylation sites

mono polymer

monomer

HOMOLOGY

interspecies

homolog to sea urchin IC1

Homologene

FAMILY

group II thioredoxin family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	restricted to spermatogenesis, starting at the pachytene spermatocyte level and peaking at the round and elongating spermatid stage

basic FUNCTION	may catalyze the conversion of nucleoside-diphosphate to nucleoside triphosphate (CTP, GTP and UTP)
	may be a component of sperm axonemal organization
	required during the final stages of sperm tail maturation in the testis and/or epididymis
	TXNDC2 and NME8, retain association with the spermatozoa after spermiation and potentially play an important role in regulating the redox status of the mature gamete
	sperm-specific thioredoxins, TXNDC2 and NME8, are critically important in protecting these cells against the increases in oxidative stress associated with paternal age
	NME1, NME5, NME7, and NME8 also exhibit a 3'-5' exonuclease activity, suggesting roles in DNA proofreading and repair

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ICS6

Susceptibility

to osteoarthritis to neurodegeneration (Alzheimer disease)

Variant & Polymorphism SNP	significant associations between 5' SNPs and osteoarthritis that hint at regulatory functions
	NME8 rs2718058 appears to play a role in lowering the brain neurodegeneration

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS