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FLASH GENE

Symbol

COL11A2

contributors: npt/ - updated : 13-03-2007

HGNC name	collagen, type XI, alpha 2
HGNC id	2187

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation
text	located just upstream of RXRB in a head-to-tail manner (Murai 2008)
STRUCTURE	29.78 kb     66 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	a chondrocyte specific enhancer, promoter CG rich
	Sp1 proteins regulate COL11A2 transcription by binding to its proximal promoter

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D6S273 - D6S1666 - HLA-DPB2 - COL11A2 - RXRB - SLC39A7 - HSD17B8 - RING1 - D6S1680 - D6S1560 - cen
Authors	McGuirt (99)
Text	see also HKE@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_080680 66 - 6425 NP_542411 171.8 1736 - Kimura (2006) NM_080681 64 splicing 6167 NP_542412 163.3 1650 - Kimura (2006) lacking exons 6 and 8 NM_080679 63 splicing 6104 NP_542410 161.3 1629 - Kimura (2006) NM_001163771 - - 1237 NP_001157243 - 290 - -

EXPRESSION

Type	restricted

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 Endocrine adrenal gland         Hearing/Equilibrium ear inner       Skeleton axial vertebral column vertebrae nucleus pulposus   Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Connective bone       Connective cartilage hyaline   specific

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal region alpha 1 NPP forming a globular head
	triple helix repeat
	an extended tail at the variable C terminal

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

ortholog to murine Col11a2

Homologene

FAMILY

fibrillar collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix, ocular vitreous body

basic FUNCTION	involved in regulation of fibrillogenesis
	playing an essential role in maintaining the interfibrillar spacing and fibril diameter of type II collagen

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component	alpha 2 chain XI, heterotrimerizing with alpha 1 XI and alpha 3 XI, a post translationally modified variant of COL2A1
	constituent of fibril forming

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

STL3 , OSMED , DFNA13 , DFNB53 , WZS

related resource

Hereditary Hearing Loss Homepage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS