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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

Corresponding disease	ATS2 Alport syndrome 2 ATS3 Alport syndrome 3 FBH familial "benign" hematuria
Location	2q36.3      Physical location : 227.867.434 - 228.029.275
Synonym name	glomerular basement membrane, Bowman capsule, distal thick basement membrane (TBM), neuromuscular junction
	collagen alpha-4
	collagen of basement membrane, alpha-4 chain
Synonym symbol(s)	CA44

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head to head with COL4A3
STRUCTURE	161.85 kb     48 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	sharing the same promoter with COL4A3

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	two transcripts, differing only in their transcription start sites, have been identified for this gene and multiple polyadenylation sites are found in the 3' UTR

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000092 48 - 10341 NP_000083 - 1690 - Kamagata (1992)

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