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

Home Page

FLASH GENE

Symbol

NHS

contributors: mct/npt - updated : 26-10-2018

HGNC name	Nance-Horan syndrome (congenital cataracts and dental anomalies)
HGNC id	7820

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Cardiovascular heart       moderately Homo sapiens Digestive mouth tooth     moderately Homo sapiens Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune thymus         Nervous brain         Homo sapiens Respiratory respiratory tract larynx     highly Urinary kidney         Visual eye lens     highly Homo sapiens   eye retina     moderately Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	teeth, brain, fetal eyes, lens, eye anterior segment, optic nerve, retina foveal and macular, RPE and choroid

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four conserved nuclear localization signals
	a functional WHD (WAVE homology domain) which interacts with the Abi family of proteins (Brooks 2010)

HOMOLOGY

interspecies

ortholog to murine Xcat

Homologene

FAMILY

NHS family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus,nucleoplasm,nuclear bodies
text	localized at the tight junction (Sharma 2006)
	localizes to sites of cell–cell contact, the leading edge of lamellipodia and focal adhesions (Brooks 2010)

basic FUNCTION	key functions in the regulation of eye, tooth, brain and craniofacial development
	regulator of actin remodelling and cell morphology, that orchestrates actin regulatory protein function in response to signalling events during development (Brooks 2010)
	essential for maintaining cell morphology through the regulation of actin cytoskeletal dynamics (Brooks 2010)
	also controls lamellipod protrusions in motile cells (Brooks 2010)
	regulatory role of NHS in actin remodeling, is cell type dependent
	encode for a functional WAVE homology domain and to be a part of WAVE heteropentameric complex that is critical for actin remodeling and cell morphology control, and subsequently, for cell motility, migration, and cell contact

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NHS , CCXNS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS