• Gene id: 1302

Gene Summary

• Gene Symbol: COL11A2   Gene   UCSC   Ensembl
• Aliases: DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
• Gene name: collagen type XI alpha 2 chain
• Alternate names: collagen alpha-2(XI) chain, collagen, type XI, alpha 2, pro-a2 chain of collagen type XI,
• Gene location: 6p21.32 (34955867: 35002436)     Exons: 47     NC_000020.11
• Gene summary(Entrez): 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 chai
• OMIM: 120290

Protein Summary

• Protein general information: P13942  
  • Name: Collagen alpha 2(XI) chain
  • Length: 1736  
  • Mass: 171791
• Sequence:

  MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQL
  FPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWH
  RVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKE
  LECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEE
  EILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAA
  HGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSL
  MLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQ
  GLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPR
  GLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQ
  GKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDI
  GVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEK
  GARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKD
  GLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAP
  GKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVP
  GEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGAD
  GEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPP
  GGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDP
  GPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKT
  GPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQ
  GEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEV
  IQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLK
  LCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQD
  VSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRG
  GVLLGPVCFMG

• Structural information:
  • Protein Domains: (57..22-)
    (/note="Laminin-G-like)
    (399..44-)
    (/note="Collagen-like-1)
    (487..54-)
    (/note="Collagen-like-2)
    (546..59-)
    (/note="Collagen-like-3)
    (805..86-)
    (/note="Collagen-like-4)
    (863..89-)
    (/note="Collagen-like-5";)
  • Interpro: IPR008160  IPR013320  IPR000885  IPR001791  
  • Prosite: PS51461
  • STRING: ENSP00000363840
• Other Databases: GeneCards:  COL11A2  Malacards:  COL11A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030199	collagen fibril organization	IBA	biological process
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0007605	sensory perception of sound	IBA	biological process
GO:0005581	collagen trimer	IBA	cellular component
GO:0051216	cartilage development	IBA	biological process
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005581	collagen trimer	IEA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030199	collagen fibril organization	IDA	biological process
GO:0060023	soft palate development	IMP	biological process
GO:0060021	roof of mouth development	IMP	biological process
GO:0030674	protein-macromolecule adaptor activity	NAS	molecular function
GO:0007605	sensory perception of sound	IMP	biological process
GO:0051216	cartilage development	IMP	biological process
GO:0001501	skeletal system development	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005592	collagen type XI trimer	NAS	cellular component
GO:0005592	collagen type XI trimer	NAS	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	NAS	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	NAS	molecular function
GO:0001501	skeletal system development	NAS	biological process
GO:0001501	skeletal system development	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Stickler syndrome	KEGG:H02072
Ossification of the posterior longitudinal ligament of spine	KEGG:H00431
Fibrochondrogenesis	KEGG:H02080
Oto-spondylo-megaepiphyseal dysplasia	KEGG:H02079
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Stickler syndrome	KEGG:H02072
Ossification of the posterior longitudinal ligament of spine	KEGG:H00431
Fibrochondrogenesis	KEGG:H02080
Oto-spondylo-megaepiphyseal dysplasia	KEGG:H02079
Otospondylomegaepiphyseal dysplasia	PMID:7859284
Osteochondrodysplasia	PMID:10677296
cleft palate	PMID:20672350
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray