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FLASH GENE

Symbol

UBQLN2

contributors: mct - updated : 16-12-2010

HGNC name	ubiquilin 2
HGNC id	12509

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALS15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Location	Xp11.21      Physical location : 56.590.025 - 56.593.442
Synonym name	Nedd4 binding protein 4
	ubiquilin-like 2
	DSK2 homolog
	ubiquitin-like product Chap1/Dsk2
	protein linking IAP with cytoskeleton 2
Synonym symbol(s)	CHAP1, DSK2, PLIC2, LIC-2, N4BP4, PLIC-2, RIHFB2157, CHAP1/DSK2, FLJ10167, FLJ56541

DNA

TYPE	functioning gene
STRUCTURE	3.42 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_013444 1 - 3418 NP_038472 65.6 624 - 2000 10894951

EXPRESSION

Type

widely

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 prostate     highly Respiratory lung       highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal sequence that is very similar to ubiquitin, called the ubiquitin-like domain (UBL)
	a more variable central domain containing several heat shock chaperonin-binding motifs (STI1 repeats)
	a conserved 50 AAs sequence called a ubiquitin-associated domain (UBA)
	a C-terminal ubiquitin-associated domain

HOMOLOGY

Homologene

FAMILY

ubiquitin-like protein family (ubiquilins)

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	potentially linking the ubiquitination machinery to the proteasome
	involved, with RAD23, in spindle pole body duplication
	involved in the ubiquitin-proteasome proteolytic pathway
	involved in the regulation of cell survival during starvation
	protects cells against starvation-induced cell death propagated by overexpression of mutant Alzheimer disease PS2N141I protein
	a possible function of ubiquilin might be to bind and transport ubiquitinated proteins to autophagosomes
	regulates the degradation of ubiquitinated proteins
	likely cooperates with FAF2 to transport defective proteins from the endoplasmic reticulum to the cytosol for degradation, and this cell-protective function is disturbed by pathogenic mutation of UBQLN2

CELLULAR PROCESS	cell life, cell death/apoptosis
	nucleotide
	protein, ubiquitin dependent proteolysis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

associating with both UBQLN1, proteasome and ubiquitin ligase to form a large complex

INTERACTION

DNA

RNA

small molecule

protein	bind the ATPase domain of the Hsp70-like STCH protein
	associate with both proteasomes and ubiquitin ligases
	interaction between TARDBP and UBQLN2 may underlie the pathogenesis of ALS and ALS/dementia, and possibly other neurodegenerative disorders as well
	interacted with ubiquitin regulatory X domain-containing protein 8 (FAF2) and this interaction was impaired by pathogenic mutation of UBQLN2

cell & other

REGULATION

Other

function may be regulated or mediated through proteasomal degradation pathways

ASSOCIATED DISORDERS

corresponding disease(s)

ALS15

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   leading to increased accumulation of full-length PSEN proteins

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS