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FLASH GENE

Symbol

COL4A4

contributors: mct/npt - updated : 05-01-2010

HGNC name	collagen, type IV, alpha 4
HGNC id	2206

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

constitutive of

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 Digestive liver       highly   stomach       highly Hearing/Equilibrium ear inner cochlea     Urinary kidney nephron renal capsule glomerulus moderately   kidney nephron renal capsule Bowman s capsule   Visual eye       moderately

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	preferentially in early development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 38-residue putative signal peptide
	a short N-terminal triple-helical 7S domain
	a 1421-residue collagenous domain wih frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix)
	hydroxylation of prolines at the third position of the tripeptide repeating unit (G-X-Y) in some or all of the chains
	two COL4C (collagen IV C-terminal) domains

conjugated

GlycoP , Other

HOMOLOGY

interspecies	ortholog to murine Col4a4
	homolog to C. elegans let-2

Homologene

FAMILY

type IV collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	glomerular basement membrane
	distal TBM
	neuromuscular junction
	extracellular matrix

basic FUNCTION

a potential role in dermoepidermal junction (DEJ) formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

being the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATS2 , FBH , ATS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS