RBP Type	Non-canonical_RBPs
Diseases	Disease
Drug	Drug
Main interacting RNAs	N.A.
Moonlighting functions	N.A.
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000204248	Gene ID	1302	Accession	2187
Symbol	COL11A2	Alias	HKE5;PARP;STL3;FBCG2;DFNA13;DFNB53;OSMEDA;OSMEDB	Full Name	collagen type XI alpha 2 chain
Status	Confidence	Length	29819 bases	Strand	Minus strand
Position	6 : 33162681 - 33192499	RNA binding domain	N.A.
Summary	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]

Protein	Domain	Pfam ID	E-value	Domain number

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID
28638	Creatinine	5.9220000E-005	-
28664	Creatinine	4.4180000E-005	-
103895	Cholesterol, LDL	5E-8	18193043

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0001501	involved_in skeletal system development	2	IMP,NAS	Homo_sapiens(9606)	Process
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005576	located_in extracellular region	1	TAS	Homo_sapiens(9606)	Component
GO:0005581	part_of collagen trimer	1	IBA	Homo_sapiens(9606)	Component
GO:0005592	part_of collagen type XI trimer	1	NAS	Homo_sapiens(9606)	Component
GO:0005615	is_active_in extracellular space	1	IBA	Homo_sapiens(9606)	Component
GO:0005788	located_in endoplasmic reticulum lumen	1	TAS	Homo_sapiens(9606)	Component
GO:0007605	involved_in sensory perception of sound	3	IBA,IMP	Homo_sapiens(9606)	Process
GO:0008201	enables heparin binding	1	IBA	Homo_sapiens(9606)	Function
GO:0030020	enables extracellular matrix structural constituent conferring tensile strength	4	HDA,IBA,NAS,RCA	Homo_sapiens(9606)	Function
GO:0030199	involved_in collagen fibril organization	2	IBA,IDA	Homo_sapiens(9606)	Process
GO:0030674	enables protein-macromolecule adaptor activity	1	NAS	Homo_sapiens(9606)	Function
GO:0046872	enables metal ion binding	1	IEA	Homo_sapiens(9606)	Function
GO:0051216	involved_in cartilage development	2	IBA,IMP	Homo_sapiens(9606)	Process
GO:0060021	involved_in roof of mouth development	1	IMP	Homo_sapiens(9606)	Process
GO:0060023	involved_in soft palate development	1	IMP	Homo_sapiens(9606)	Process
GO:0062023	located_in collagen-containing extracellular matrix	3	HDA,IBA,NAS	Homo_sapiens(9606)	Component