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

Home Page

FLASH GENE

Symbol

COL4A6

contributors: - updated : 19-03-2007

HGNC name	collagen, type IV, alpha 6
HGNC id	2208

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATSDL Alport syndrome with diffuse leiomyomatosis
Location	Xq22.3      Physical location : 107.398.837 - 107.682.704
Synonym name	collagen alpha-6
Synonym symbol(s)	MGC88184

DNA

TYPE	functioning gene
STRUCTURE	283.00 kb     45 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	see COL4A5

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant A - - 6574 163 1691 - Ikeda utilizes alternative exon 1A resulting in a different 5'UTR and signal peptide variant B - - 6689 - 1690 - Ikeda utilizes alternative exon 1B resulting in a different 5'UTR and signal peptide

EXPRESSION

Type

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 esophagus         Respiratory lung         Urinary kidney nephron

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	in the dermoepidermal junction during fetal skin development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

meshwork forming collagen with a GLy-X-Y repeat sequence interspersed by small interruptions

HOMOLOGY

interspecies

homolog to murine Col4a6

Homologene

FAMILY

collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION	inhibiting angiogenesis and tumor growth
	formation of the basement membrane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATSDL

Susceptibility

to colorectal cancer

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS