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Q14055

- CO9A2_HUMAN

UniProt

Q14055 - CO9A2_HUMAN

Protein

Collagen alpha-2(IX) chain

Gene

COL9A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 2 (01 May 1999)
      Previous versions | rss
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    Functioni

    Structural component of hyaline cartilage and vitreous of the eye.

    GO - Molecular functioni

    1. extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL

    GO - Biological processi

    1. axon guidance Source: Reactome
    2. collagen catabolic process Source: Reactome
    3. extracellular matrix disassembly Source: Reactome
    4. extracellular matrix organization Source: Reactome
    5. skeletal system development Source: ProtInc

    Enzyme and pathway databases

    ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.
    REACT_13552. Integrin cell surface interactions.
    REACT_150401. Collagen degradation.
    REACT_163906. ECM proteoglycans.
    REACT_16888. Signaling by PDGF.
    REACT_18312. NCAM1 interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Collagen alpha-2(IX) chain
    Gene namesi
    Name:COL9A2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2218. COL9A2.

    Subcellular locationi

    GO - Cellular componenti

    1. collagen type IX trimer Source: BHF-UCL
    2. endoplasmic reticulum lumen Source: Reactome
    3. extracellular region Source: Reactome

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Multiple epiphyseal dysplasia 2 (EDM2) [MIM:600204]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti326 – 3261Q → W in IDD; requires 2 nucleotide substitutions. 1 Publication
    VAR_012658
    Stickler syndrome 5 (STL5) [MIM:614284]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Disease mutation, Dwarfism, Stickler syndrome

    Organism-specific databases

    MIMi600204. phenotype.
    603932. phenotype.
    614284. phenotype.
    Orphaneti250984. Autosomal recessive Stickler syndrome.
    166002. Multiple epiphyseal dysplasia due to collagen 9 anomaly.
    PharmGKBiPA26734.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 689666Collagen alpha-2(IX) chainPRO_0000005837Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi169 – 1691O-linked (Xyl...) (glycosaminoglycan)By similarity
    Disulfide bondi174 – 174InterchainSequence Analysis
    Disulfide bondi178 – 178InterchainSequence Analysis

    Post-translational modificationi

    Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
    Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Hydroxylation, Proteoglycan

    Proteomic databases

    PaxDbiQ14055.
    PRIDEiQ14055.

    PTM databases

    PhosphoSiteiQ14055.

    Expressioni

    Gene expression databases

    ArrayExpressiQ14055.
    BgeeiQ14055.
    CleanExiHS_COL9A2.
    GenevestigatoriQ14055.

    Organism-specific databases

    HPAiHPA056316.

    Interactioni

    Subunit structurei

    Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.

    Protein-protein interaction databases

    BioGridi107695. 4 interactions.
    IntActiQ14055. 3 interactions.
    STRINGi9606.ENSP00000361834.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14055.
    SMRiQ14055. Positions 22-60.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni27 – 163137Triple-helical region 4 (COL4)Add
    BLAST
    Regioni164 – 18017Nonhelical region 4 (NC4)Add
    BLAST
    Regioni181 – 519339Triple-helical region 3 (COL3)Add
    BLAST
    Regioni520 – 54930Nonhelical region 3 (NC3)Add
    BLAST
    Regioni550 – 63283Triple-helical region 2 (COL2)Add
    BLAST
    Regioni633 – 6342Nonhelical region 2 (NC2)
    Regioni635 – 66430Triple-helical region 1 (COL1)Add
    BLAST
    Regioni665 – 68925Nonhelical region 1 (NC1)Add
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Collagen, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG12793.
    HOGENOMiHOG000085653.
    HOVERGENiHBG004933.
    InParanoidiQ14055.
    KOiK08131.
    OMAiIKGAPGQ.
    OrthoDBiEOG7XSTG3.
    PhylomeDBiQ14055.

    Family and domain databases

    InterProiIPR008160. Collagen.
    [Graphical view]
    PfamiPF01391. Collagen. 10 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q14055-1 [UniParc]FASTAAdd to Basket

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    MAAATASPRS LLVLLQVVVL ALAQIRGPPG ERGPPGPPGP PGVPGSDGID    50
    GDNGPPGKAG PPGPKGEPGK AGPDGPDGKP GIDGLTGAKG EPGPMGIPGV 100
    KGQPGLPGPP GLPGPGFAGP PGPPGPVGLP GEIGIRGPKG DPGPDGPSGP 150
    PGPPGKPGRP GTIQGLEGSA DFLCPTNCPP GMKGPPGLQG VKGHAGKRGI 200
    LGDPGHQGKP GPKGDVGASG EQGIPGPPGP QGIRGYPGMA GPKGETGPHG 250
    YKGMVGAIGA TGPPGEEGPR GPPGRAGEKG DEGSPGIRGP QGITGPKGAT 300
    GPPGINGKDG TPGTPGMKGS AGQAGQPGSP GHQGLAGVPG QPGTKGGPGD 350
    QGEPGPQGLP GFSGPPGKEG EPGPRGEIGP QGIMGQKGDQ GERGPVGQPG 400
    PQGRQGPKGE QGPPGIPGPQ GLPGVKGDKG SPGKTGPRGK VGDPGVAGLP 450
    GEKGEKGESG EPGPKGQQGV RGEPGYPGPS GDAGAPGVQG YPGPPGPRGL 500
    AGNRGVPGQP GRQGVEGRDA TDQHIVDVAL KMLQEQLAEV AVSAKREALG 550
    AVGMMGPPGP PGPPGYPGKQ GPHGHPGPRG VPGIVGAVGQ IGNTGPKGKR 600
    GEKGDPGEVG RGHPGMPGPP GIPGLPGRPG QAINGKDGDR GSPGAPGEAG 650
    RPGLPGPVGL PGFCEPAACL GASAYASARL TEPGSIKGP 689
    Length:689
    Mass (Da):65,131
    Last modified:May 1, 1999 - v2
    Checksum:iEB6106E02F6FA862
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti246 – 2461T → M.1 Publication
    Corresponds to variant rs2228565 [ dbSNP | Ensembl ].
    VAR_026465
    Natural varianti326 – 3261Q → R.2 Publications
    Corresponds to variant rs2228564 [ dbSNP | Ensembl ].
    VAR_012659
    Natural varianti326 – 3261Q → W in IDD; requires 2 nucleotide substitutions. 1 Publication
    VAR_012658
    Natural varianti335 – 3351L → V.1 Publication
    Corresponds to variant rs2228567 [ dbSNP | Ensembl ].
    VAR_026466
    Natural varianti581 – 5811V → I.
    Corresponds to variant rs3737821 [ dbSNP | Ensembl ].
    VAR_020014

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF019406 Genomic DNA. Translation: AAC33512.1.
    AL050341 Genomic DNA. Translation: CAB81611.1.
    CH471059 Genomic DNA. Translation: EAX07229.1.
    BC136326 mRNA. Translation: AAI36327.1.
    BC136327 mRNA. Translation: AAI36328.1.
    M95610 mRNA. Translation: AAA80977.1.
    CCDSiCCDS450.1.
    PIRiS32436.
    RefSeqiNP_001843.1. NM_001852.3.
    XP_006710428.1. XM_006710365.1.
    UniGeneiHs.418012.

    Genome annotation databases

    EnsembliENST00000372748; ENSP00000361834; ENSG00000049089.
    GeneIDi1298.
    KEGGihsa:1298.
    UCSCiuc001cfh.1. human.

    Polymorphism databases

    DMDMi20137328.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF019406 Genomic DNA. Translation: AAC33512.1 .
    AL050341 Genomic DNA. Translation: CAB81611.1 .
    CH471059 Genomic DNA. Translation: EAX07229.1 .
    BC136326 mRNA. Translation: AAI36327.1 .
    BC136327 mRNA. Translation: AAI36328.1 .
    M95610 mRNA. Translation: AAA80977.1 .
    CCDSi CCDS450.1.
    PIRi S32436.
    RefSeqi NP_001843.1. NM_001852.3.
    XP_006710428.1. XM_006710365.1.
    UniGenei Hs.418012.

    3D structure databases

    ProteinModelPortali Q14055.
    SMRi Q14055. Positions 22-60.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107695. 4 interactions.
    IntActi Q14055. 3 interactions.
    STRINGi 9606.ENSP00000361834.

    PTM databases

    PhosphoSitei Q14055.

    Polymorphism databases

    DMDMi 20137328.

    Proteomic databases

    PaxDbi Q14055.
    PRIDEi Q14055.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372748 ; ENSP00000361834 ; ENSG00000049089 .
    GeneIDi 1298.
    KEGGi hsa:1298.
    UCSCi uc001cfh.1. human.

    Organism-specific databases

    CTDi 1298.
    GeneCardsi GC01M040766.
    GeneReviewsi COL9A2.
    H-InvDB HIX0028759.
    HGNCi HGNC:2218. COL9A2.
    HPAi HPA056316.
    MIMi 120260. gene.
    600204. phenotype.
    603932. phenotype.
    614284. phenotype.
    neXtProti NX_Q14055.
    Orphaneti 250984. Autosomal recessive Stickler syndrome.
    166002. Multiple epiphyseal dysplasia due to collagen 9 anomaly.
    PharmGKBi PA26734.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOGENOMi HOG000085653.
    HOVERGENi HBG004933.
    InParanoidi Q14055.
    KOi K08131.
    OMAi IKGAPGQ.
    OrthoDBi EOG7XSTG3.
    PhylomeDBi Q14055.

    Enzyme and pathway databases

    Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.
    REACT_13552. Integrin cell surface interactions.
    REACT_150401. Collagen degradation.
    REACT_163906. ECM proteoglycans.
    REACT_16888. Signaling by PDGF.
    REACT_18312. NCAM1 interactions.

    Miscellaneous databases

    GeneWikii COL9A2.
    GenomeRNAii 1298.
    NextBioi 5271.
    PROi Q14055.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14055.
    Bgeei Q14055.
    CleanExi HS_COL9A2.
    Genevestigatori Q14055.

    Family and domain databases

    InterProi IPR008160. Collagen.
    [Graphical view ]
    Pfami PF01391. Collagen. 10 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule."
      Pihlajamaa T., Vuoristo M.M., Annunen S., Peraelae M., Prockop D.J., Ala-Kokko L.
      Matrix Biol. 17:237-241(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Foreskin.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1."
      Peraelae M., Haenninen M., Haestbacka J., Elima K., Vuorio E.
      FEBS Lett. 319:177-180(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 50-668.
      Tissue: Cartilage.
    6. "Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia."
      Holden P., Canty E.G., Mortier G.R., Zabel B., Spranger J., Carr A., Grant M.E., Loughlin J.A., Briggs M.D.
      Am. J. Hum. Genet. 65:31-38(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN EDM2.
    7. "A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome."
      Baker S., Booth C., Fillman C., Shapiro M., Blair M.P., Hyland J.C., Ala-Kokko L.
      Am. J. Med. Genet. A 155:1668-1672(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN STL5.
    8. Cited for: VARIANT IDD TRP-326, VARIANT ARG-326.
    9. Cited for: VARIANTS MET-246; ARG-326 AND VAL-335.

    Entry informationi

    Entry nameiCO9A2_HUMAN
    AccessioniPrimary (citable) accession number: Q14055
    Secondary accession number(s): B2RMP9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 136 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3