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FLASH GENE

Symbol

NPNT

contributors: mct/npt/pgu - updated : 24-05-2016

HGNC name	nephronectin
HGNC id	27405

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	4q24      Physical location : 106.816.596 - 106.892.827
Synonym name	similar to nephronectin, short isoform
	preosteoblast EGF-like repeat protein with MAM domain
	protein EGFL6-like
Synonym symbol(s)	POEM, NCTN, EGFL6L

DNA

TYPE	functioning gene
STRUCTURE	76.22 kb     12 Exon(s)

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_001033047 12 - 4595 NP_001028219 61 565 - 2005 15754038

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 vessel         Endocrine thyroid         Nervous brain         Reproductive female system uterus       Respiratory lung         Urinary kidney tubule

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory renal tubular epithelium

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	bone, kidney, inner ear, muscle, tooth germ, thyroid, endocrine organs of the brain
	fetal ear, eye, heart, lung and kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five EGF-like domains
	a RGD cell binding motif
	a meprin, A5 protein, and receptor protein-tyrosine phosphatase mu domain (MAM), with strong cell adhesion, spreading, and survival-promoting activities

HOMOLOGY

Homologene

FAMILY

nephronectin family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix protein

basic FUNCTION	involved in the development and function of various tissues, kidney, bone, muscle, and endocrine organs
	epidermal growth factor (EGF)-like implicated in embryonic development as well as maintenance of various adult tissues
	may provide a useful tissue and urine biomarker for both the development and evolution of nephrotoxic acute renal injury
	positive regulator of osteoblast differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

nephronectin/alpha8-beta1 integrin is a pathway that regulates GDNF expression and is essential for kidney development

INTERACTION

DNA

RNA

small molecule

protein	ligand for ITGA8 beta 1 (essential ligand that engages alpha8beta1 integrin during early kidney development)
	expression of NPNT is regulated by the TGFBR1-SMAD2 signaling pathway in osteoblasts

cell & other

REGULATION

repressed by

TYNF (TNF-induced down-regulation of NPNT gene expression occurred in both time- and dose-dependent manners through the nuclear factor kappa B (NFKB) pathway)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   causes kidney agenesis or hypoplasia constitutional     --over   promotes osteoblast differentiation via its EGF-repeats

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS