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FLASH GENE

Symbol

USH2A

contributors: mct/shn - updated : 23-05-2015

HGNC name	Usher syndrome 2A (autosomal recessive, mild)
HGNC id	12601

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARRP15 retinitis pigmentosa autosomal recessive, 15, non syndromic USH2A Usher syndrome, type II A
Location	1q41      Physical location : 215.796.235 - 216.596.738
Synonym name	usherin
	usherin, putative extracellular matrix protein
	Usher syndrome type-2A protein
	Usher syndrome type IIa protein
Synonym symbol(s)	US2, USH2, dJ1111A8.1, RP39

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	800.50 kb     72 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cent - D1S474 - D1S2827 - USH2A USH2A - D1S229 - D1S490 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_206933 72 splicing 18883 NP_996816 575.5 5202 . retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis . in the ridges of the periciliary complex, connecting cilium of photoreceptor cells. In the retina in the Bruch's layer choroid capillary basement membranes Van Wijk (2004), Maerker (2008) 12433396 having an essential impact for the maintenance of photoreceptor cell survival NM_007123 21 splicing 6332 NP_009054 170.9 1546 fetal eye, retina, cochlea and heart, skeleton, tongue, kidney, small and large intestine, testis, liver , pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus lung and at very low level in brain, CNS - 12433396

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 Hearing/Equilibrium ear inner cochlea   highly Homo sapiens Nervous brain       moderately Homo sapiens Urinary kidney       moderately Homo sapiens Visual eye retina     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)   specific Epithelial sensory visual photoreceptor layer specific

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Visual cone photoreceptor Visual rod photoreceptor

cell lineage
cell lines	Y79 human retinoblastoma cells (
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	cochlea, eye, brain, kidney, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal thrombospondin-like domain
	a signal peptide
	2 laminin G-like domains
	a pentaxin domain
	a laminin-N-terminal domain
	10 laminin EGF-like domains
	four fibronectin type III (FN3) repeats
	cysteine rich structural domain, containing 12 dicysteine repeats
	35 fibronectin type-III domains and a transmembrane region
	an intracellular domain
	a PDZ-binding domain in the C-terminal
	laminin EGF motifs

HOMOLOGY

interspecies	homolog to laminin
	ortholog to Ush2a, Mus musculus
	ortholog to Ush2a, Rattus norvegicus
	ortholog to USH2A, Pan troglodytes

Homologene

FAMILY

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	basement membrane
	USH2A, MASS1 and NBC3 are co-expressed with the USH1-protein harmonin in the synaptic terminals of both retinal photoreceptors and inner ear hair cells

basic FUNCTION	involved in hearing and vision
	scaffold protein, may be important in development and homeostasis of the inner ear and retina
	required for the long-term maintenance of retinal photoreceptors and for the development of cochlear hair cells (Liu et al, 2007)
	may be important in development and homeostasis of the inner ear and retina

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing , sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	whirlin, WHRN (van Wijk et al, 2006)
	harmonin
	fibronectin in retinal basement membranes
	Collagen IV (
	DFNB31 (
	interactions between GPR98, WHRN, USH2A, VEZT further support their involvement in a molecular complex associated with the ankle links and scaffolded by whirlin (Michalski 2007)
	whirlin (DFNB31) and usherin (USH2A) directly interacted with each other through the two N-terminal PDZ domains of whirlin and the C-terminal PDZ-binding motif of usherin (Yang 2010)
	USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle in hair cells
	direct interaction between USH1G and the transmembrane adhesion protein USH2A and both assemble into a ternary USH1/USH2 complex together with WHRN via mutual interactions

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

USH2A , ARRP15

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Ush2a knockout in mice to progressive photoreceptor degeneration and a moderate but nonprogressive hearing impairment (Liu et al, 2007)