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Protein

Collagen alpha-2(IX) chain

Gene

COL9A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Structural component of hyaline cartilage and vitreous of the eye.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • extracellular matrix structural constituent Source: GO_Central
  • extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL

GO - Biological processi

  • extracellular matrix organization Source: GO_Central
  • skeletal system development Source: ProtInc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q14055

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-2(IX) chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL9A2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000049089.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2218 COL9A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120260 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14055

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Multiple epiphyseal dysplasia 2 (EDM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600204
Intervertebral disc disease (IDD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
See also OMIM:603932
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012658326Q → W in IDD; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs137853213EnsemblClinVar.1
Stickler syndrome 5 (STL5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614284

Keywords - Diseasei

Deafness, Disease mutation, Dwarfism, Stickler syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
1298

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
COL9A2

MalaCards human disease database

More...
MalaCardsi
COL9A2
MIMi600204 phenotype
603932 phenotype
614284 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000049089

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
250984 Autosomal recessive Stickler syndrome
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26734

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL9A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20137328

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000583724 – 689Collagen alpha-2(IX) chainAdd BLAST666

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi169O-linked (Xyl...) (glycosaminoglycan) serineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi174InterchainSequence analysis
Disulfide bondi178InterchainSequence analysis

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q14055

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q14055

PeptideAtlas

More...
PeptideAtlasi
Q14055

PRoteomics IDEntifications database

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PRIDEi
Q14055

ProteomicsDB human proteome resource

More...
ProteomicsDBi
59804

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q14055

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14055

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q14055

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000049089 Expressed in 154 organ(s), highest expression level in substantia nigra

CleanEx database of gene expression profiles

More...
CleanExi
HS_COL9A2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14055 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14055 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA056316
HPA075286

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107695, 5 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1748 Collagen type IX trimer

Protein interaction database and analysis system

More...
IntActi
Q14055, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000361834

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1689
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q14055

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q14055

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni27 – 163Triple-helical region 4 (COL4)Add BLAST137
Regioni164 – 180Nonhelical region 4 (NC4)Add BLAST17
Regioni181 – 519Triple-helical region 3 (COL3)Add BLAST339
Regioni520 – 549Nonhelical region 3 (NC3)Add BLAST30
Regioni550 – 632Triple-helical region 2 (COL2)Add BLAST83
Regioni633 – 634Nonhelical region 2 (NC2)2
Regioni635 – 664Triple-helical region 1 (COL1)Add BLAST30
Regioni665 – 689Nonhelical region 1 (NC1)Add BLAST25

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161290

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000085653

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG004933

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14055

KEGG Orthology (KO)

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KOi
K08131

Identification of Orthologs from Complete Genome Data

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OMAi
QGNTEQN

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0O38

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14055

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 9 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q14055-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAATASPRS LLVLLQVVVL ALAQIRGPPG ERGPPGPPGP PGVPGSDGID
60 70 80 90 100
GDNGPPGKAG PPGPKGEPGK AGPDGPDGKP GIDGLTGAKG EPGPMGIPGV
110 120 130 140 150
KGQPGLPGPP GLPGPGFAGP PGPPGPVGLP GEIGIRGPKG DPGPDGPSGP
160 170 180 190 200
PGPPGKPGRP GTIQGLEGSA DFLCPTNCPP GMKGPPGLQG VKGHAGKRGI
210 220 230 240 250
LGDPGHQGKP GPKGDVGASG EQGIPGPPGP QGIRGYPGMA GPKGETGPHG
260 270 280 290 300
YKGMVGAIGA TGPPGEEGPR GPPGRAGEKG DEGSPGIRGP QGITGPKGAT
310 320 330 340 350
GPPGINGKDG TPGTPGMKGS AGQAGQPGSP GHQGLAGVPG QPGTKGGPGD
360 370 380 390 400
QGEPGPQGLP GFSGPPGKEG EPGPRGEIGP QGIMGQKGDQ GERGPVGQPG
410 420 430 440 450
PQGRQGPKGE QGPPGIPGPQ GLPGVKGDKG SPGKTGPRGK VGDPGVAGLP
460 470 480 490 500
GEKGEKGESG EPGPKGQQGV RGEPGYPGPS GDAGAPGVQG YPGPPGPRGL
510 520 530 540 550
AGNRGVPGQP GRQGVEGRDA TDQHIVDVAL KMLQEQLAEV AVSAKREALG
560 570 580 590 600
AVGMMGPPGP PGPPGYPGKQ GPHGHPGPRG VPGIVGAVGQ IGNTGPKGKR
610 620 630 640 650
GEKGDPGEVG RGHPGMPGPP GIPGLPGRPG QAINGKDGDR GSPGAPGEAG
660 670 680
RPGLPGPVGL PGFCEPAACL GASAYASARL TEPGSIKGP
Length:689
Mass (Da):65,131
Last modified:May 1, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEB6106E02F6FA862
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AKJ3B1AKJ3_HUMAN
Collagen alpha-2(IX) chain
COL9A2
83Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y409H0Y409_HUMAN
Collagen alpha-2(IX) chain
COL9A2
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFT7A0A2R8YFT7_HUMAN
Collagen alpha-2(IX) chain
COL9A2
10Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026465246T → M1 PublicationCorresponds to variant dbSNP:rs2228565EnsemblClinVar.1
Natural variantiVAR_079749326 – 689Missing 1 PublicationAdd BLAST364
Natural variantiVAR_012659326Q → R2 PublicationsCorresponds to variant dbSNP:rs2228564EnsemblClinVar.1
Natural variantiVAR_012658326Q → W in IDD; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs137853213EnsemblClinVar.1
Natural variantiVAR_026466335L → V1 PublicationCorresponds to variant dbSNP:rs2228567EnsemblClinVar.1
Natural variantiVAR_020014581V → I. Corresponds to variant dbSNP:rs3737821EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF019406 Genomic DNA Translation: AAC33512.1
AL050341 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07229.1
BC136326 mRNA Translation: AAI36327.1
BC136327 mRNA Translation: AAI36328.1
M95610 mRNA Translation: AAA80977.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS450.1

Protein sequence database of the Protein Information Resource

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PIRi
S32436

NCBI Reference Sequences

More...
RefSeqi
NP_001843.1, NM_001852.3
XP_006710428.1, XM_006710365.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.418012

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372748; ENSP00000361834; ENSG00000049089

Database of genes from NCBI RefSeq genomes

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GeneIDi
1298

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1298

UCSC genome browser

More...
UCSCi
uc001cfh.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019406 Genomic DNA Translation: AAC33512.1
AL050341 Genomic DNA No translation available.
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_006710365.3
UniGeneiHs.418012

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CTDX-ray1.60B517-552[»]
5CTIX-ray1.90B517-552[»]
5CVAX-ray2.10B/E517-552[»]
5CVBX-ray2.25B/E517-552[»]
ProteinModelPortaliQ14055
SMRiQ14055
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107695, 5 interactors
ComplexPortaliCPX-1748 Collagen type IX trimer
IntActiQ14055, 7 interactors
STRINGi9606.ENSP00000361834

PTM databases

iPTMnetiQ14055
PhosphoSitePlusiQ14055

Polymorphism and mutation databases

BioMutaiCOL9A2
DMDMi20137328

Proteomic databases

EPDiQ14055
PaxDbiQ14055
PeptideAtlasiQ14055
PRIDEiQ14055
ProteomicsDBi59804
TopDownProteomicsiQ14055

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372748; ENSP00000361834; ENSG00000049089
GeneIDi1298
KEGGihsa:1298
UCSCiuc001cfh.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1298
DisGeNETi1298
EuPathDBiHostDB:ENSG00000049089.13

GeneCards: human genes, protein and diseases

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GeneCardsi
COL9A2
GeneReviewsiCOL9A2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0028759
HGNCiHGNC:2218 COL9A2
HPAiHPA056316
HPA075286
MalaCardsiCOL9A2
MIMi120260 gene
600204 phenotype
603932 phenotype
614284 phenotype
neXtProtiNX_Q14055
OpenTargetsiENSG00000049089
Orphaneti250984 Autosomal recessive Stickler syndrome
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
PharmGKBiPA26734

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000161290
HOGENOMiHOG000085653
HOVERGENiHBG004933
InParanoidiQ14055
KOiK08131
OMAiQGNTEQN
OrthoDBiEOG091G0O38
PhylomeDBiQ14055

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization
SIGNORiQ14055

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
COL9A2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1298

Protein Ontology

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PROi
PR:Q14055

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000049089 Expressed in 154 organ(s), highest expression level in substantia nigra
CleanExiHS_COL9A2
ExpressionAtlasiQ14055 baseline and differential
GenevisibleiQ14055 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
PfamiView protein in Pfam
PF01391 Collagen, 9 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO9A2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14055
Secondary accession number(s): B2RMP9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: May 1, 1999
Last modified: December 5, 2018
This is version 175 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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