COL2A1 (collagen type II alpha 1 chain) - Rat Genome Database

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Gene: COL2A1 (collagen type II alpha 1 chain) Homo sapiens
Analyze
Symbol: COL2A1
Name: collagen type II alpha 1 chain
RGD ID: 734037
HGNC Page HGNC:2200
Description: Enables several functions, including MHC class II protein binding activity; platelet-derived growth factor binding activity; and protein homodimerization activity. Involved in several processes, including collagen fibril organization; embryonic skeletal joint morphogenesis; and sensory perception of sound. Located in extracellular space. Part of collagen type II trimer. Implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACG2; alpha-1 type II collagen; ANFH; ANFH1; AOM; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; chondrocalcin; COL11A3; collagen alpha-1(II) chain; collagen II, alpha-1 polypeptide; collagen type II alpha 1; collagen, type II, alpha 1; EDMMD; LCPD; MGC131516; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1; VPED
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381247,972,967 - 48,006,212 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1247,972,967 - 48,004,554 (-)EnsemblGRCh38hg38GRCh38
GRCh371248,366,750 - 48,398,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,653,015 - 46,684,552 (-)NCBINCBI36Build 36hg18NCBI36
Build 341246,653,017 - 46,684,528NCBI
Celera1247,164,396 - 47,195,933 (-)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,398,588 - 45,430,128 (-)NCBIHuRef
CHM1_11248,332,620 - 48,364,163 (-)NCBICHM1_1
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Original Reference(s)
COL2A1HumanBronchial Fistula treatmentISOCol2a1 (Rattus norvegicus)8661658 RGD 
COL2A1Humanchondrosarcoma  IAGP 8657387DNA:mutations:multiple (human)RGD 
COL2A1Humanchorioretinitis  IAGP 8657355associated with Toxoplasmosis more ...RGD 
COL2A1Humancleft palate susceptibilityIAGP 12436724DNA:SNP and haplotype:intron:rs1793949(human)RGD 
COL2A1HumanCzech Dysplasia, Metatarsal Type  IAGP 8657344DNA:missense mutation:cds:p.R275C (c.823C>T) (human)RGD 
COL2A1Humandegenerative disc disease  ISOCol2a1 (Rattus norvegicus)8661231mRNA:decreased expression:intervertebral disc (rat)RGD 
COL2A1Humandegenerative disc disease treatmentISOCol2a1 (Rattus norvegicus)10043178associated with Renal InsufficiencyRGD 
COL2A1Humandegenerative disc disease  ISOCol2a1 (Rattus norvegicus)11570539 RGD 
COL2A1HumanDwarfism  ISOCol2a1 (Mus musculus)11570531DNA:deletion:cds:p.KT206 and 207N(mouse)RGD 
COL2A1Humaneye disease  IAGP 8657386associated with Toxoplasmosis more ...RGD 
COL2A1HumanFemur Head Necrosis  ISOCol2a1 (Rattus norvegicus)10046018mRNA:increased expression:head of femurRGD 
COL2A1HumanFetal Growth Retardation  ISOCol2a1 (Rattus norvegicus)8661261mRNA:decreased expression:distal epiphyseal plate of femur (rat)RGD 
COL2A1HumanHigh Myopia severityIAGP 8657342DNA:snps:multiple (human)RGD 
COL2A1HumanHyaloideoretinal Degeneration of Wagner  IAGP 8657389DNA:missense mutation:exon:p.G67D (human)RGD 
COL2A1HumanHyaloideoretinal Degeneration of Wagner  IAGP 8657385DNA:frameshift mutation:exon:p.C57X (human)RGD 
COL2A1Humanhypothyroidism treatmentISOCol2a1 (Rattus norvegicus)8661259 RGD 
COL2A1Humanmyopia  IAGP 8657390DNA:snp:intron:g.IVS1-1194A>C (rs1635529) (human)RGD 
COL2A1Humanmyopia susceptibilityIAGP 12436723associated with Stickler Syndrome more ...RGD 
COL2A1Humanosteoarthritis treatmentISOCol2a1 (Rattus norvegicus)8661226 RGD 
COL2A1Humanosteoarthritis onsetIAGP 8657384DNA:missense mutation:exon:p.R75C (human)RGD 
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COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:17437277 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:15930420 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:17078022 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:10982970 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:15895462 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVar 
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:1429602 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:28492532
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:17078022 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:10797431 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:25741868 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:10612821 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:17078022 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:15895462 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:20179744 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:17078022 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:17078022 more ...
COL2A1Humanachondrogenesis type II  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Achondrogenesis type IIClinVarPMID:21472893 more ...
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COL2A1Humanachondrogenesis type II  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:7741714
COL2A1HumanAnimal Disease Models  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:17299831
COL2A1Humanarthritis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:17299831 more ...
COL2A1Humanbone resorption disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:27028940
COL2A1Humancartilage disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:27028940
COL2A1Humancataract  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:8317498
COL2A1Humanchondrosarcoma  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:23770606
COL2A1Humancleft palate  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:15562585
COL2A1HumanCraniofacial Abnormalities  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:9061443 and PMID:15562585
COL2A1HumanCzech Dysplasia, Metatarsal Type  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
COL2A1HumanEdema  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25194622 more ...
COL2A1HumanErythema  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25194622 and PMID:27028940
COL2A1HumanExperimental Arthritis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:16200597 more ...
COL2A1HumanFemur Head Necrosis  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
COL2A1HumanHyaloideoretinal Degeneration of Wagner  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:11812423
COL2A1HumanHyperplasia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25481498
COL2A1HumanInflammation  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:24144632 and PMID:27028940
COL2A1HumanKniest dysplasia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:11297324
COL2A1HumanLegg-Calve-Perthes disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
COL2A1Humanmelanoma  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:16778180
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COL2A1Humanachondrogenesis type II  ISSCol2a1 (Mus musculus)13592920OMIM:200610MouseDO 
COL2A1Humanhypochondrogenesis  ISSCol2a1 (Mus musculus)13592920 MouseDO 
COL2A1Humanspondyloepimetaphyseal dysplasia  ISSCol2a1 (Mus musculus)13592920 MouseDO 
COL2A1Humanspondyloepiphyseal dysplasia congenita  ISSCol2a1 (Mus musculus)13592920OMIM:183900MouseDO 

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COL2A1Human(+)-Tetrandrine multiple interactionsISOCol2a1 (Mus musculus)6480464[tetrandrine co-treated with COL2A1 protein] results in increased expression of CYP1A1 mRNA more ...CTDPMID:26640276
COL2A1Human(R)-carnitine multiple interactionsISOCol2a1 (Rattus norvegicus)6480464[COL2A1 protein co-treated with Freund's Adjuvant] affects the abundance of Carnitine more ...CTDPMID:24709313
COL2A1Human(R)-pantothenic acid multiple interactionsISOCol2a1 (Rattus norvegicus)6480464[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid more ...CTDPMID:24709313
COL2A1Human(S)-magnoflorine multiple interactionsISOCol2a1 (Rattus norvegicus)6480464[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids] more ...CTDPMID:24709313
COL2A1Human(S)-nicotine decreases expressionISOCol2a1 (Rattus norvegicus)6480464Nicotine results in decreased expression of COL2A1 mRNA and Nicotine results in decreased expression of COL2A1 proteinCTDPMID:29660438 more ...
COL2A1Human(S)-nicotine multiple interactionsEXP 6480464NLRP3 protein affects the reaction [Nicotine results in decreased expression of COL2A1 mRNA]CTDPMID:39098741
COL2A1Human(S)-nicotine decreases expressionEXP 6480464Nicotine results in decreased expression of COL2A1 mRNACTDPMID:39098741
COL2A1Human17alpha-ethynylestradiol multiple interactionsISOCol2a1 (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL2A1 mRNACTDPMID:17942748
COL2A1Human17alpha-ethynylestradiol increases expressionISOCol2a1 (Mus musculus)6480464Ethinyl Estradiol results in increased expression of COL2A1 mRNACTDPMID:17942748
COL2A1Human17beta-estradiol increases expressionISOCol2a1 (Mus musculus)6480464Estradiol results in increased expression of COL2A1 mRNACTDPMID:19484750
COL2A1Human2,2',4,4'-Tetrabromodiphenyl ether increases expressionEXP 64804642 more ...CTDPMID:31675489
COL2A1Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOCol2a1 (Mus musculus)6480464[AHR gene mutant form results in decreased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of COL2A1 mRNA and [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL2A1 mRNACTDPMID:17942748 and PMID:24035824
COL2A1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOCol2a1 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of COL2A1 mRNACTDPMID:32109520
COL2A1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionEXP 6480464Tetrachlorodibenzodioxin affects the expression of COL2A1 mRNACTDPMID:31887333
COL2A1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionEXP 6480464Tetrachlorodibenzodioxin results in decreased expression of COL2A1 mRNACTDPMID:20106945 and PMID:21632981
COL2A1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISOCol2a1 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of COL2A1 mRNACTDPMID:21570461
COL2A1Human2,3,7,8-Tetrachlorodibenzofuran decreases expressionISOCol2a1 (Rattus norvegicus)64804642 more ...CTDPMID:32109520
COL2A1Human2,4,6-tribromophenol decreases expressionEXP 64804642 more ...CTDPMID:31675489
COL2A1Human2-amino-2-deoxy-D-glucopyranose multiple interactionsEXP 6480464Glucosamine analog affects the reaction [IL1B results in decreased expression of COL2A1 mRNA] and Glucosamine inhibits the reaction [IL1B protein results in decreased expression of COL2A1 mRNA]CTDPMID:17337215 and PMID:18321735
COL2A1Human2-amino-2-deoxy-D-glucopyranose multiple interactionsISOCol2a1 (Rattus norvegicus)6480464Glucosamine inhibits the reaction [IL1B results in decreased expression of COL2A1 mRNA]CTDPMID:17109745

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Biological Process
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Original Reference(s)
COL2A1Humananterior head development acts_upstream_of_or_withinIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humanbone development acts_upstream_of_or_withinIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancartilage condensation acts_upstream_of_or_withinIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancartilage development  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:9822201 and REF_RGD_ID:70694
COL2A1Humancartilage development acts_upstream_of_or_withinIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancartilage development involved_inTAS 150520179 PMID:7550321BHF-UCLPMID:7550321
COL2A1Humancartilage development involved in endochondral bone morphogenesis  ISOCol2a1 (Rattus norvegicus)9068941mandibular condylar cartilageRGDPMID:12924823 and REF_RGD_ID:8661659
COL2A1Humancartilage development involved in endochondral bone morphogenesis acts_upstream_of_or_withinIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancellular response to BMP stimulus acts_upstream_of_or_withinIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancellular response to insulin-like growth factor stimulus  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:18595745 and REF_RGD_ID:11667101
COL2A1Humancellular response to mechanical stimulus  ISOCol2a1 (Rattus norvegicus)9068941cyclic compressive stressRGDPMID:19725071 and REF_RGD_ID:8661239
COL2A1Humancellular response to nicotine  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:22766705 and REF_RGD_ID:8661258
COL2A1Humancellular response to parathyroid hormone stimulus  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:22750004 and REF_RGD_ID:8661244
COL2A1Humancellular response to peptide hormone stimulus  ISOCol2a1 (Rattus norvegicus)9068941parathyroid hormone-related peptideRGDPMID:11120880 and REF_RGD_ID:8661236
COL2A1Humancellular response to retinoic acid  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:23810783 and REF_RGD_ID:8661241
COL2A1Humancellular response to tumor necrosis factor  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:19144181 and REF_RGD_ID:8661243
COL2A1Humancellular response to vitamin E  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:23722449 and REF_RGD_ID:8552711
COL2A1Humancentral nervous system development involved_inIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humanchondrocyte differentiation  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:21627568 and REF_RGD_ID:5134342
COL2A1Humanchondrocyte differentiation involved_inISOCol2a1 (Mus musculus)9068941 PMID:9119111UniProtPMID:9119111
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Cellular Component
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COL2A1Humanbasement membrane located_inIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancollagen trimer part_ofIEAUniProtKB-KW:KW-0176150520179 UniProtGO_REF:0000043
COL2A1Humancollagen trimer part_ofIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancollagen type II trimer part_ofIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humancollagen type II trimer part_ofIBAMGI:88452 more ...150520179 GO_CentralGO_REF:0000033
COL2A1Humancollagen type II trimer part_ofIDA 150520179 PMID:8660302BHF-UCLPMID:8660302
COL2A1Humancollagen type XI trimer part_ofNAS 150520179 PMID:17876790ComplexPortalPMID:17876790
COL2A1Humancollagen-containing extracellular matrix  ISOCol2a1 (Rattus norvegicus)9068941 RGDPMID:7649371 and REF_RGD_ID:1298775
COL2A1Humancollagen-containing extracellular matrix is_active_inIBAFB:FBgn0000299 more ...150520179 GO_CentralGO_REF:0000033
COL2A1Humancollagen-containing extracellular matrix located_inHDA 150520179 PMID:23658023 more ...BHF-UCLPMID:23658023 more ...
COL2A1Humancytoplasm located_inIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humanendoplasmic reticulum lumen located_inTAS 150520179 ReactomeReactome:R-HSA-2022073 more ...
COL2A1Humanendoplasmic reticulum lumen located_inIEAARBA:ARBA00028691150520179 UniProtGO_REF:0000117
COL2A1Humanextracellular matrix located_inIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humanextracellular region located_inIEAUniProtKB-SubCell:SL-0243150520179 UniProtGO_REF:0000044
COL2A1Humanextracellular region located_inIEAUniProtKB-KW:KW-0964150520179 UniProtGO_REF:0000043
COL2A1Humanextracellular region located_inHDA 150520179 PMID:27068509BHF-UCLPMID:27068509
COL2A1Humanextracellular region located_inTAS 150520179 ReactomeReactome:R-HSA-1454757 more ...
COL2A1Humanextracellular space located_inIMP 150520179 PMID:20603131UniProtPMID:20603131
COL2A1Humanextracellular space is_active_inIBAMGI:88452 more ...150520179 GO_CentralGO_REF:0000033
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Molecular Function
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COL2A1Humanextracellular matrix structural constituent enablesIEAInterPro:IPR000885150520179 InterProGO_REF:0000002
COL2A1Humanextracellular matrix structural constituent conferring tensile strength enablesICGO:0005585150520179 PMID:8660302BHF-UCLPMID:8660302
COL2A1Humanextracellular matrix structural constituent conferring tensile strength enablesIBAPANTHER:PTN001166351 more ...150520179 GO_CentralGO_REF:0000033
COL2A1Humanextracellular matrix structural constituent conferring tensile strength enablesRCA 150520179 PMID:27559042 more ...BHF-UCLPMID:27559042 more ...
COL2A1Humanextracellular matrix structural constituent conferring tensile strength enablesHDA 150520179 PMID:28344315BHF-UCLPMID:28344315
COL2A1Humanidentical protein binding enablesIEAUniProtKB:P28481 and ensembl:ENSMUSP00000023123150520179 EnsemblGO_REF:0000107
COL2A1Humanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
COL2A1HumanMHC class II protein binding enablesIPIUniProtKB:P01903 and UniProtKB:P01911150520179 PMID:9354468CAFAPMID:9354468
COL2A1Humanplatelet-derived growth factor binding enablesIDA 150520179 PMID:8900172MGIPMID:8900172
COL2A1Humanprotein binding enablesIPIUniProtKB:O00291 more ...150520179 PMID:32814053IntActPMID:32814053
COL2A1Humanprotein binding enablesIPIUniProtKB:Q14145150520179 PMID:32296183IntActPMID:32296183
COL2A1Humanprotein homodimerization activity enablesIPIUniProtKB:P02458150520179 PMID:8660302BHF-UCLPMID:8660302
COL2A1Humanproteoglycan binding enablesIDA 150520179 PMID:29030641MGIPMID:29030641
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Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
COL2A1Humancell-extracellular matrix signaling pathway  IEA 6907045 KEGGhsa:04512
COL2A1HumanEntamoebiasis pathway  IEA 6907045 KEGGhsa:05146

Imported Annotations - PID (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
COL2A1Humansyndecan signaling pathway  EXP 6484113 PIDPID:200156
1 to 20 of 22 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
COL2A1HumanAbnormal retinal morphology  IAGP 8657385DNA:frameshift mutation:exon:p.C57XRGD 
COL2A1HumanAbnormality of refraction  IAGP 8657390DNA:snp:intron:g.IVS1-1194A>C (rs1635529) RGD 
COL2A1HumanArthropathy  IAGP 13524555DNA:nonsense mutation:exon:p.R732XRGD 
COL2A1HumanCataract  IAGP 8657389DNA:missense mutation:exon:p.G67DRGD 
COL2A1HumanConductive hearing impairment  IAGP 8657405DNA:missense mutation:exon:p.R704CRGD 
COL2A1HumanFlat face  IAGP 8657405DNA:missense mutation:exon:p.R704CRGD 
COL2A1HumanJoint hypermobility  IAGP 8657352DNA:deletion:exons:RGD 
COL2A1HumanJoint hypermobility  IAGP 8657393DNA:deletion:exon:g.33524_33526delCRGD 
COL2A1HumanLattice retinal degeneration  IAGP 13524555DNA:nonsense mutation:exon:p.R732XRGD 
COL2A1HumanLong fingers  IAGP 8657352DNA:deletion:exons:RGD 
COL2A1HumanMyopia  IAGP 8657405DNA:missense mutation:exon:p.R704CRGD 
COL2A1HumanMyopia  IAGP 13524555DNA:nonsense mutation:exon:p.R732XRGD 
COL2A1HumanOptically empty vitreous  IAGP 11667954DNA:insertion:exon:c.2012_2013insC(human)RGD 
COL2A1HumanPierre-Robin sequence susceptibilityIAGP 12436723associated with Stickler Syndrome more ...RGD 
COL2A1HumanPremature osteoarthritis  IAGP 11667104DNA:mutations:cds:p.G204A and p.G393S(human)RGD 
COL2A1HumanReduced visual acuity  IAGP 8657393DNA:deletion:exon:g.33524_33526delCRGD 
COL2A1HumanRetinal detachment  IAGP 13524555DNA:nonsense mutation:exon:p.R732XRGD 
COL2A1HumanRetinal detachment  IAGP 8657352DNA:deletion:exons:RGD 
COL2A1HumanRetinal detachment  IAGP 8657389DNA:missense mutation:exon:p.G67DRGD 
COL2A1HumanRound face  IAGP 8657405DNA:missense mutation:exon:p.R704CRGD 
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1 to 20 of 723 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
COL2A1HumanAbdominal distention  IAGP 8699517 HPOORPHA:85166
COL2A1HumanAbnormal antitragus morphology  IAGP 8699517 HPOORPHA:93315
COL2A1HumanAbnormal bone ossification  IAGP 8699517 HPOORPHA:93315
COL2A1HumanAbnormal bone ossification  IAGP 8699517 HPOORPHA:93296
COL2A1HumanAbnormal bone structure  IAGP 8699517 HPOORPHA:485
COL2A1HumanAbnormal carpal morphology  IAGP 8699517 HPOORPHA:85166
COL2A1HumanAbnormal cartilage collagen  IAGP 8699517 HPOORPHA:485
COL2A1HumanAbnormal cartilage collagen  IAGP 8699517 HPOMIM:156550
COL2A1HumanAbnormal circulating osteocalcin level  IAGP 8699517 HPOORPHA:93315
COL2A1HumanAbnormal epiphysis morphology  IAGP 8699517 HPOORPHA:90653
COL2A1HumanAbnormal epiphysis morphology of the phalanges of the hand  IAGP 8699517 HPOMIM:619248
COL2A1HumanAbnormal femoral epiphysis morphology  IAGP 8699517 HPOMIM:108300
COL2A1HumanAbnormal femoral neck/head morphology  IAGP 8699517 HPOORPHA:86820
COL2A1HumanAbnormal fibula morphology  IAGP 8699517 HPOORPHA:85198
COL2A1HumanAbnormal foot morphology  IAGP 8699517 HPOORPHA:94068
COL2A1HumanAbnormal foot morphology  IAGP 8699517 HPOMIM:200610
COL2A1HumanAbnormal hip joint morphology  IAGP 8699517 HPOORPHA:1856
COL2A1HumanAbnormal ilium morphology  IAGP 8699517 HPOORPHA:93316
COL2A1HumanAbnormal joint morphology  IAGP 8699517 HPOORPHA:485
COL2A1HumanAbnormal metacarpal morphology  IAGP 8699517 HPOORPHA:166100
1 to 20 of 723 rows
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
COL2A1HumanAbnormal cartilage collagen  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal cartilage collagenClinVarPMID:28492532 and PMID:34380476
COL2A1HumanAbnormality of the skeletal system  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormality of the skeletal systemClinVarPMID:17078022 more ...
COL2A1HumanAbsent vertebral body mineralization  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Absent vertebral body mineralizationClinVarPMID:17078022 more ...
COL2A1HumanAcetabular dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Acetabular dysplasiaClinVarPMID:16755660 more ...
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868 and PMID:28492532
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868 and PMID:28492532
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:17078022 more ...
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868 and PMID:28492532
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868 and PMID:28492532
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:15895462 more ...
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:17437277 more ...
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:10982970 more ...
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:25741868 and PMID:28492532
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Coxa planaClinVarPMID:15930420 more ...
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:21472893 more ...
COL2A1HumanAvascular necrosis of the capital femoral epiphysis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysisClinVarPMID:20179744 more ...
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1 to 20 of 50 rows
#
Reference Title
Reference Citation
1. Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Ahmad NN, etal., Arch Ophthalmol. 1995 Nov;113(11):1454-7.
2. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. Ahmad NN, etal., J Med Genet. 1996 Aug;33(8):678-81.
3. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Ahmad NN, etal., Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7.
4. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. Ballo R, etal., Am J Med Genet. 1998 Oct 30;80(1):6-11.
5. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia. Cao LH, etal., Genet Mol Res. 2012 Dec 3;11(4):4130-7. doi: 10.4238/2012.September.27.1.
6. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. Carlson KM, etal., J Rheumatol. 2006 Jun;33(6):1133-6.
7. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. Donahue LR, etal., J Bone Miner Res 2003 Sep;18(9):1612-21.
8. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Edwards TL, etal., Clin Experiment Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19.
9. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type. Furuichi T, etal., Mamm Genome. 2011 Jun;22(5-6):318-28. doi: 10.1007/s00335-011-9329-3. Epub 2011 May 3.
10. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Gupta SK, etal., Am J Ophthalmol. 2002 Feb;133(2):203-10.
11. A rat tail temporary static compression model reproduces different stages of intervertebral disc degeneration with decreased notochordal cell phenotype. Hirata H, etal., J Orthop Res. 2014 Mar;32(3):455-63. doi: 10.1002/jor.22533. Epub 2013 Nov 28.
12. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert KP, etal., Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24.
13. [Preventive and therapeutic effects of Yiqi Huayu Recipe on degeneration of articular cartilage in rats with osteoarthritis]. Hou W, etal., Zhong Xi Yi Jie He Xue Bao. 2009 Feb;7(2):163-8.
14. Host genetic and epigenetic factors in toxoplasmosis. Jamieson SE, etal., Mem Inst Oswaldo Cruz. 2009 Mar;104(2):162-9.
15. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. Jamieson SE, etal., PLoS One. 2008 Jun 4;3(6):e2285. doi: 10.1371/journal.pone.0002285.
16. Mechanism of Yiqi Huayu Bushen Recipe in treating cervical syndrome with kidney deficiency in rats Jiang JC, etal., Zhong Xi Yi Jie He Xue Bao. 2008 Dec;6(12):1280-5. doi: 10.3736/jcim200812114.
17. A mouse model for Stickler's syndrome: ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1). Kaarniranta K, etal., Exp Eye Res. 2006 Aug;83(2):297-303. Epub 2006 Mar 20.
18. Premature arthritis is a distinct type II collagen phenotype. Kannu P, etal., Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354.
19. New insights into the pathogenesis of glucocorticoid-induced avascular necrosis: microarray analysis of gene expression in a rat model. Kerachian MA, etal., Arthritis Res Ther. 2010;12(3):R124. doi: 10.1186/ar3062. Epub 2010 Jun 25.
20. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) Korkko J, etal., Am J Hum Genet. 1993 Jul;53(1):55-61.
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PMID:1374906   PMID:1397263   PMID:1429602   PMID:1439770   PMID:1444917   PMID:1544908   PMID:1556676   PMID:1621990   PMID:1637314   PMID:1905723   PMID:1971141   PMID:1975693  
PMID:1985108   PMID:1999183   PMID:2010058   PMID:2059554   PMID:2081599   PMID:2229073   PMID:2300123   PMID:2339128   PMID:2355003   PMID:2446864   PMID:2543071   PMID:2572591  
PMID:2587267   PMID:2714801   PMID:2745554   PMID:2753125   PMID:2803268   PMID:2825137   PMID:2987845   PMID:3002437   PMID:3004202   PMID:3011107   PMID:3021582   PMID:3571333  
PMID:3800925   PMID:3840017   PMID:3857598   PMID:3997552   PMID:6320112   PMID:7520045   PMID:7550321   PMID:7699294   PMID:7757081   PMID:7757086   PMID:7829510   PMID:7847372  
PMID:7874117   PMID:7977371   PMID:7981752   PMID:8019561   PMID:8024616   PMID:8244341   PMID:8325895   PMID:8406454   PMID:8423604   PMID:8486375   PMID:8507190   PMID:8529631  
PMID:8609233   PMID:8660302   PMID:8723096   PMID:8723097   PMID:8723098   PMID:8778019   PMID:8863156   PMID:8900172   PMID:8948452   PMID:9061001   PMID:9066888   PMID:9101290  
PMID:9334230   PMID:9354468   PMID:9409248   PMID:9468540   PMID:9659900   PMID:9685393   PMID:9711874   PMID:9811967   PMID:10085302   PMID:10196235   PMID:10382266   PMID:10406661  
PMID:10486316   PMID:10678662   PMID:10706362   PMID:10729292   PMID:10745044   PMID:10772239   PMID:10797431   PMID:10982970   PMID:11007540   PMID:11121411   PMID:11292829   PMID:11368302  
PMID:11406351   PMID:11445564   PMID:11447232   PMID:11705992   PMID:11708863   PMID:11716775   PMID:11724554   PMID:11746045   PMID:11847210   PMID:11973338   PMID:12011698   PMID:12096843  
PMID:12186868   PMID:12200454   PMID:12205109   PMID:12223098   PMID:12360016   PMID:12393877   PMID:12429249   PMID:12429250   PMID:12477932   PMID:12485997   PMID:12544472   PMID:12637574  
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COL2A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381247,972,967 - 48,006,212 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1247,972,967 - 48,004,554 (-)EnsemblGRCh38hg38GRCh38
GRCh371248,366,750 - 48,398,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,653,015 - 46,684,552 (-)NCBINCBI36Build 36hg18NCBI36
Build 341246,653,017 - 46,684,528NCBI
Celera1247,164,396 - 47,195,933 (-)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,398,588 - 45,430,128 (-)NCBIHuRef
CHM1_11248,332,620 - 48,364,163 (-)NCBICHM1_1
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBIT2T-CHM13v2.0
Col2a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391597,873,483 - 97,902,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1597,873,483 - 97,902,576 (-)EnsemblGRCm39 Ensembl
GRCm381597,975,602 - 98,004,724 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1597,975,602 - 98,004,695 (-)EnsemblGRCm38mm10GRCm38
MGSCv371597,806,033 - 97,835,155 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361597,803,005 - 97,832,679 (-)NCBIMGSCv36mm8
Celera15100,100,464 - 100,129,552 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1553.97NCBI
Col2a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87130,977,561 - 131,006,627 (-)NCBIGRCr8
mRatBN7.27129,098,489 - 129,127,560 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,098,786 - 129,127,546 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7130,895,443 - 130,924,189 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07133,120,981 - 133,149,729 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07133,033,447 - 133,062,197 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07139,454,945 - 139,484,403 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7139,455,242 - 139,483,997 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07139,646,698 - 139,675,832 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47136,679,219 - 136,707,976 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17136,755,655 - 136,784,413 (-)NCBI
Celera7125,589,749 - 125,618,504 (-)NCBICelera
RH 3.4 Map71096.2RGD
Cytogenetic Map7q36NCBI
Col2a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555006,860,771 - 6,885,473 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555006,860,771 - 6,885,466 (-)NCBIChiLan1.0ChiLan1.0
COL2A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21046,160,541 - 46,192,087 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11246,157,299 - 46,188,845 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01240,726,137 - 40,757,690 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11241,600,206 - 41,631,789 (+)NCBIpanpan1.1PanPan1.1panPan2
COL2A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1276,756,994 - 6,787,733 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl276,756,994 - 6,787,733 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2739,518,936 - 39,549,645 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0276,824,733 - 6,855,569 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl276,824,865 - 6,855,569 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1276,762,038 - 6,792,716 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0276,796,986 - 6,827,666 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02739,807,429 - 39,838,181 (-)NCBIUU_Cfam_GSD_1.0
Col2a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494567,272,043 - 67,302,897 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365125,861,933 - 5,892,853 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365125,861,933 - 5,894,898 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL2A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl578,350,137 - 78,380,718 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1578,350,131 - 78,380,893 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2581,530,406 - 81,554,481 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL2A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11144,196,213 - 44,227,718 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1144,196,094 - 44,227,468 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037202,151,602 - 202,183,142 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col2a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248164,274,219 - 4,304,513 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248164,273,969 - 4,304,519 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in COL2A1
2836 total Variants

1 to 10 of 3173 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) single nucleotide variant Achondrogenesis type II [RCV001805138]|not provided [RCV000520302] Chr12:47974271 [GRCh38]
Chr12:48368054 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3274-9_3274-6del microsatellite COL2A1-related disorder [RCV000709797]|not provided [RCV000523288] Chr12:47977161..47977164 [GRCh38]
Chr12:48370944..48370947 [GRCh37]
Chr12:12q13.11		 uncertain significance|not provided
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser) single nucleotide variant not provided [RCV000521936] Chr12:47984131 [GRCh38]
Chr12:48377914 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3489+163_3597+2del deletion Spondyloepiphyseal dysplasia congenita [RCV000018894] Chr12:47975961..47976351 [GRCh38]
Chr12:48369744..48370134 [GRCh37]
Chr12:12q13.11-q13.2		 pathogenic
NM_001844.5(COL2A1):c.3510_3554dup (p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro) duplication Spondyloepiphyseal dysplasia congenita [RCV000018898]|not provided [RCV005089276] Chr12:47976005..47976006 [GRCh38]
Chr12:48369788..48369789 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance
COL2A1 variation Spondyloepiphyseal dysplasia, namaqualand type [RCV000018900] Chr12:12q13.11-q13.2 pathogenic
NM_001844.5(COL2A1):c.2751del (p.Gly918fs) deletion Stickler syndrome type 1 [RCV000018902]|not provided [RCV002513111] Chr12:47978741 [GRCh38]
Chr12:48372524 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.906_924+9del deletion Kniest dysplasia [RCV000018906]|not provided [RCV003330396] Chr12:47993800..47993827 [GRCh38]
Chr12:48387583..48387610 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1420-2A>G single nucleotide variant Kniest dysplasia [RCV000018913]|Stickler syndrome type 1 [RCV002247359]|not provided [RCV002513112] Chr12:47986445 [GRCh38]
Chr12:48380228 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs) deletion Stickler syndrome type 1 [RCV000018916]|not provided [RCV001851924] Chr12:47974771 [GRCh38]
Chr12:48368554 [GRCh37]
Chr12:12q13.11		 pathogenic
1 to 10 of 3173 rows

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirecordsexternal_info{changed}NA21665270

Predicted Target Of
Summary Value
Count of predictions:2302
Count of miRNA genes:903
Interacting mature miRNAs:1090
Transcripts:ENST00000337299, ENST00000380518, ENST00000465743, ENST00000466884, ENST00000474996, ENST00000483376, ENST00000490609, ENST00000493991, ENST00000546974
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 15 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
407048483GWAS697459_Hxanthine measurement QTL GWAS697459 (human)0.000003xanthine measurement124797520647975207Human
596979189GWAS1098708_Hbody height QTL GWAS1098708 (human)2e-16body height124798024547980246Human
597513949GWAS1610023_Hpeak expiratory flow QTL GWAS1610023 (human)6e-24peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)124800524548005246Human
597333080GWAS1429154_Hneuroimaging measurement QTL GWAS1429154 (human)0.00001neuroimaging measurement124799116147991162Human
597365470GWAS1461544_HBMI-adjusted waist circumference QTL GWAS1461544 (human)1e-09body size trait (VT:0100005)124799865047998651Human
597105406GWAS1201480_Htriglyceride measurement QTL GWAS1201480 (human)0.0000006triglyceride measurementblood triglyceride level (CMO:0000118)124798318647983187Human
597041821GWAS1137895_Hretinal detachment, retinal break QTL GWAS1137895 (human)0.000001retinal detachment, retinal break124798073047980731Human
597102887GWAS1198961_Hneutrophil percentage of leukocytes QTL GWAS1198961 (human)9e-11neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)124798169247981693Human
596978597GWAS1098116_Hbody height QTL GWAS1098116 (human)3e-11body height124799865047998651Human
597082471GWAS1178545_Hlymphocyte count QTL GWAS1178545 (human)3e-10lymphocyte countblood lymphocyte count (CMO:0000031)124799327447993275Human

1 to 10 of 15 rows
D12S85  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371247,336,723 - 47,336,847UniSTSGRCh37
Build 361245,622,990 - 45,623,114RGDNCBI36
Celera1246,133,772 - 46,133,894RGD
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map12p13.2-q24.1UniSTS
HuRef1244,367,693 - 44,367,811UniSTS
Marshfield Genetic Map1261.34UniSTS
Marshfield Genetic Map1261.34RGD
Genethon Genetic Map1262.7UniSTS
deCODE Assembly Map1260.49UniSTS
GeneMap99-GB4 RH Map12207.93UniSTS
Whitehead-RH Map12276.7UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12394.0UniSTS
D12S1663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371244,271,620 - 44,271,862UniSTSGRCh37
Build 361242,557,887 - 42,558,129RGDNCBI36
Celera1243,074,968 - 43,075,210RGD
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q12-q13.3UniSTS
Cytogenetic Map12q13.11UniSTS
HuRef1241,300,220 - 41,300,462UniSTS
Marshfield Genetic Map1256.38UniSTS
Marshfield Genetic Map1256.38RGD
Genethon Genetic Map1257.7UniSTS
Whitehead-YAC Contig Map12 UniSTS
D12S2021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,366,830 - 48,367,175UniSTSGRCh37
Build 361246,653,097 - 46,653,442RGDNCBI36
Celera1247,164,478 - 47,164,823RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,398,670 - 45,399,015UniSTS
TNG Radiation Hybrid Map1221371.0UniSTS
Stanford-G3 RH Map121857.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12361.3UniSTS
GeneMap99-G3 RH Map121803.0UniSTS
SHGC-79734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,386,719 - 48,386,911UniSTSGRCh37
Build 361246,672,986 - 46,673,178RGDNCBI36
Celera1247,184,368 - 47,184,560RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,418,561 - 45,418,753UniSTS
TNG Radiation Hybrid Map1221684.0UniSTS
GDB:177726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,155 - 48,370,408UniSTSGRCh37
Build 361246,653,422 - 46,656,675RGDNCBI36
Celera1247,164,803 - 47,168,056RGD
HuRef1245,398,995 - 45,402,248UniSTS
GDB:177727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,825 - 48,369,423UniSTSGRCh37
Build 361246,654,092 - 46,655,690RGDNCBI36
Celera1247,165,473 - 47,167,071RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,399,665 - 45,401,263UniSTS
GDB:177728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,369,682 - 48,370,408UniSTSGRCh37
Build 361246,655,949 - 46,656,675RGDNCBI36
Celera1247,167,330 - 47,168,056RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,401,522 - 45,402,248UniSTS
GDB:180356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,368,059 - 48,368,652UniSTSGRCh37
Build 361246,654,326 - 46,654,919RGDNCBI36
Celera1247,165,707 - 47,166,300RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,399,899 - 45,400,492UniSTS
GDB:180743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,375,988 - 48,376,568UniSTSGRCh37
Build 361246,662,255 - 46,662,835RGDNCBI36
Celera1247,173,637 - 47,174,217RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,407,829 - 45,408,409UniSTS
GDB:512193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,387,494 - 48,387,865UniSTSGRCh37
Build 361246,673,761 - 46,674,132RGDNCBI36
Celera1247,185,143 - 47,185,514RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,419,336 - 45,419,707UniSTS
GDB:626695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,380,090 - 48,380,266UniSTSGRCh37
Build 361246,666,357 - 46,666,533RGDNCBI36
Celera1247,177,738 - 47,177,914RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,411,931 - 45,412,107UniSTS
COL2A1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,961 - 48,368,526UniSTSGRCh37
Build 361246,654,228 - 46,654,793RGDNCBI36
Celera1247,165,609 - 47,166,174RGD
HuRef1245,399,801 - 45,400,366UniSTS
RH68551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,366,819 - 48,366,915UniSTSGRCh37
Build 361246,653,086 - 46,653,182RGDNCBI36
Celera1247,164,467 - 47,164,563RGD
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef1245,398,659 - 45,398,755UniSTS
GeneMap99-GB4 RH Map12211.47UniSTS
NCBI RH Map12357.8UniSTS
MARC_24087-24088:1040064543:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,010 - 48,367,967UniSTSGRCh37
Build 361246,653,277 - 46,654,234RGDNCBI36
Celera1247,164,658 - 47,165,615RGD
HuRef1245,398,850 - 45,399,807UniSTS
GDB:177260  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map7q22.1UniSTS
GDB:577666  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:577655  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:577659  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:577662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,379,341 - 48,380,948UniSTSGRCh37
Celera1247,176,990 - 47,178,597UniSTS
Cytogenetic Map12q13.11UniSTS
HuRef1245,411,182 - 45,412,790UniSTS
GDB:577664  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578728  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578731  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578732  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578733  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
MARC_15881-15882:1015249633:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,390,365 - 48,391,476UniSTSGRCh37
Celera1247,188,014 - 47,189,125UniSTS
HuRef1245,422,207 - 45,423,318UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
931 2167 2382 1772 4758 1246 1688 6 326 1175 197 1972 5289 4842 36 3524 570 1612 1232 140 1


1 to 30 of 53 rows
RefSeq Transcripts NG_008072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB839024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC116449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS025620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC258754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC303393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L00977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 53 rows

Ensembl Acc Id: ENST00000337299   ⟹   ENSP00000338213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,973,407 - 48,004,506 (-)Ensembl
Ensembl Acc Id: ENST00000380518   ⟹   ENSP00000369889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,972,967 - 48,004,476 (-)Ensembl
Ensembl Acc Id: ENST00000465743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,002,622 - 48,004,362 (-)Ensembl
Ensembl Acc Id: ENST00000466884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,998,169 - 47,998,859 (-)Ensembl
Ensembl Acc Id: ENST00000474996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,997,615 - 48,004,449 (-)Ensembl
Ensembl Acc Id: ENST00000483376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,981,343 - 47,983,855 (-)Ensembl
Ensembl Acc Id: ENST00000490609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,999,697 - 48,004,554 (-)Ensembl
Ensembl Acc Id: ENST00000493991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,973,201 - 47,988,471 (-)Ensembl
Ensembl Acc Id: ENST00000546974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,975,353 - 47,977,445 (-)Ensembl
RefSeq Acc Id: NM_001844   ⟹   NP_001835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,004,476 (-)NCBI
GRCh371248,366,748 - 48,398,285 (-)ENTREZGENE
Build 361246,653,015 - 46,684,552 (-)NCBI Archive
HuRef1245,398,588 - 45,430,128 (-)ENTREZGENE
CHM1_11248,332,620 - 48,364,163 (-)NCBI
T2T-CHM13v2.01247,934,691 - 47,966,208 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033150   ⟹   NP_149162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,004,476 (-)NCBI
GRCh371248,366,748 - 48,398,285 (-)ENTREZGENE
Build 361246,653,015 - 46,684,552 (-)NCBI Archive
HuRef1245,398,588 - 45,430,128 (-)ENTREZGENE
CHM1_11248,332,620 - 48,364,163 (-)NCBI
T2T-CHM13v2.01247,934,691 - 47,966,208 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018828   ⟹   XP_016874317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,006,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018829   ⟹   XP_016874318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,006,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018830   ⟹   XP_016874319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,006,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018831   ⟹   XP_016874320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,001,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428315   ⟹   XP_047284271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,005,618 (-)NCBI
RefSeq Acc Id: XM_054371136   ⟹   XP_054227111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBI
RefSeq Acc Id: XM_054371137   ⟹   XP_054227112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBI
RefSeq Acc Id: XM_054371138   ⟹   XP_054227113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBI
RefSeq Acc Id: XM_054371139   ⟹   XP_054227114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,963,285 (-)NCBI
RefSeq Acc Id: XM_054371140   ⟹   XP_054227115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,350 (-)NCBI
1 to 30 of 59 rows
Protein RefSeqs NP_001835 (Get FASTA)   NCBI Sequence Viewer  
  NP_149162 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874317 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874318 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874319 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874320 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227111 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227115 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51997 (Get FASTA)   NCBI Sequence Viewer  
  AAA52037 (Get FASTA)   NCBI Sequence Viewer  
  AAA52038 (Get FASTA)   NCBI Sequence Viewer  
  AAA52039 (Get FASTA)   NCBI Sequence Viewer  
  AAA52051 (Get FASTA)   NCBI Sequence Viewer  
  AAA58428 (Get FASTA)   NCBI Sequence Viewer  
  AAA73873 (Get FASTA)   NCBI Sequence Viewer  
  AAB60370 (Get FASTA)   NCBI Sequence Viewer  
  AAC41772 (Get FASTA)   NCBI Sequence Viewer  
  AAD14239 (Get FASTA)   NCBI Sequence Viewer  
  AAD15286 (Get FASTA)   NCBI Sequence Viewer  
  AAH07252 (Get FASTA)   NCBI Sequence Viewer  
  AAI16450 (Get FASTA)   NCBI Sequence Viewer  
  AAP35869 (Get FASTA)   NCBI Sequence Viewer  
  CAA25092 (Get FASTA)   NCBI Sequence Viewer  
  CAA26223 (Get FASTA)   NCBI Sequence Viewer  
  CAA26224 (Get FASTA)   NCBI Sequence Viewer  
  CAA26225 (Get FASTA)   NCBI Sequence Viewer  
1 to 30 of 59 rows
1 to 5 of 14 rows
1 to 5 of 14 rows
RefSeq Acc Id: NP_149162   ⟸   NM_033150
- Peptide Label: isoform 2 precursor
- UniProtKB: P02458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001835   ⟸   NM_001844
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UE42 (UniProtKB/Swiss-Prot),   Q9UE41 (UniProtKB/Swiss-Prot),   Q9UE40 (UniProtKB/Swiss-Prot),   Q9UE39 (UniProtKB/Swiss-Prot),   Q9UE38 (UniProtKB/Swiss-Prot),   Q99227 (UniProtKB/Swiss-Prot),   Q96IT5 (UniProtKB/Swiss-Prot),   Q6LBY3 (UniProtKB/Swiss-Prot),   Q6LBY2 (UniProtKB/Swiss-Prot),   Q6LBY1 (UniProtKB/Swiss-Prot),   Q2V4X7 (UniProtKB/Swiss-Prot),   Q1JQ82 (UniProtKB/Swiss-Prot),   Q16672 (UniProtKB/Swiss-Prot),   Q14058 (UniProtKB/Swiss-Prot),   Q14056 (UniProtKB/Swiss-Prot),   Q14047 (UniProtKB/Swiss-Prot),   Q14046 (UniProtKB/Swiss-Prot),   Q14045 (UniProtKB/Swiss-Prot),   Q14044 (UniProtKB/Swiss-Prot),   Q14009 (UniProtKB/Swiss-Prot),   Q12985 (UniProtKB/Swiss-Prot),   A6NGA0 (UniProtKB/Swiss-Prot),   Q9UE43 (UniProtKB/Swiss-Prot),   P02458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874319   ⟸   XM_017018830
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016874318   ⟸   XM_017018829
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016874317   ⟸   XM_017018828
- Peptide Label: isoform X1
- Sequence:
Fibrillar collagen NC1   VWFC

Name Modeler Protein Id AA Range Protein Structure
AF-P02458-F1-model_v2 AlphaFold P02458 1-1487 view protein structure

RGD ID:7223727
Promoter ID:EPDNEW_H17609
Type:multiple initiation site
Name:COL2A1_1
Description:collagen type II alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17610  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,977,426 - 47,977,486EPDNEW
RGD ID:7223729
Promoter ID:EPDNEW_H17610
Type:initiation region
Name:COL2A1_2
Description:collagen type II alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17609  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,004,476 - 48,004,536EPDNEW


1 to 40 of 81 rows
Database
Acc Id
Source(s)
COSMIC COL2A1 COSMIC
Ensembl Genes ENSG00000139219 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337299 ENTREZGENE
  ENST00000337299.7 UniProtKB/Swiss-Prot
  ENST00000380518 ENTREZGENE
  ENST00000380518.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.1000 UniProtKB/Swiss-Prot
  Complement Module, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000139219 GTEx
HGNC ID HGNC:2200 ENTREZGENE
Human Proteome Map COL2A1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot
  Collagen_superfamily UniProtKB/Swiss-Prot
  Fib_collagen_C UniProtKB/Swiss-Prot
  VWF_dom UniProtKB/Swiss-Prot
KEGG Report hsa:1280 UniProtKB/Swiss-Prot
NCBI Gene 1280 ENTREZGENE
OMIM 120140 OMIM
PANTHER COLLAGEN ALPHA UniProtKB/Swiss-Prot
  COLLAGEN TRIPLE HELIX REPEAT UniProtKB/Swiss-Prot
Pfam COLFI UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot
  VWC UniProtKB/Swiss-Prot
PharmGKB PA26715 PharmGKB
PROSITE NC1_FIB UniProtKB/Swiss-Prot
  VWFC_1 UniProtKB/Swiss-Prot
  VWFC_2 UniProtKB/Swiss-Prot
SMART COLFI UniProtKB/Swiss-Prot
  VWC UniProtKB/Swiss-Prot
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot
UniProt A6NGA0 ENTREZGENE
  CO2A1_HUMAN UniProtKB/Swiss-Prot
  L8EBB9_HUMAN UniProtKB/TrEMBL
  P02458 ENTREZGENE
  Q12985 ENTREZGENE
  Q14009 ENTREZGENE
  Q14044 ENTREZGENE
  Q14045 ENTREZGENE
  Q14046 ENTREZGENE
  Q14047 ENTREZGENE
1 to 40 of 81 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 COL2A1  collagen type II alpha 1 chain  COL2A1  collagen type II alpha 1  Symbol and/or name change 5135510 APPROVED
2016-04-05 COL2A1  collagen type II alpha 1  AOM  arthroophthalmopathy, progressive (Stickler syndrome)  Data merged from RGD:1343174 737654 PROVISIONAL
2016-01-26 COL2A1  collagen type II alpha 1  COL2A1  collagen, type II, alpha 1  Symbol and/or name change 5135510 APPROVED