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Protein

Collagen alpha-2(XI) chain

Gene

COL11A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi1589CalciumBy similarity1
Metal bindingi1591CalciumBy similarity1
Metal bindingi1592Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1594Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1597CalciumBy similarity1

GO - Molecular functioni

  • extracellular matrix structural constituent conferring tensile strength Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • protein binding, bridging Source: UniProtKB

GO - Biological processi

  • cartilage development Source: UniProtKB
  • collagen catabolic process Source: Reactome
  • collagen fibril organization Source: UniProtKB
  • palate development Source: UniProtKB
  • sensory perception of sound Source: UniProtKB
  • skeletal system development Source: UniProtKB
  • soft palate development Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112112-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-3000171. Non-integrin membrane-ECM interactions.
R-HSA-8874081. MET activates PTK2 signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-2(XI) chain
Gene namesi
Name:COL11A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:2187. COL11A2.

Subcellular locationi

GO - Cellular componenti

  • collagen type XI trimer Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular region Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Stickler syndrome 3 (STL3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant non-ocular form of Stickler syndrome. Classical Stickler syndrome associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular symptoms are absent. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.
See also OMIM:184840
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013594940 – 948Missing in STL3. 1 Publication9
Otospondylomegaepiphyseal dysplasia (OSMED)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA skeletal dysplasia characterized by enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and sensorineural hearing loss. Patients have typical facial features, including mid-face hypoplasia with a short upturned nose and depressed nasal bridge. Cleft palate and a small mandible are also common findings.
See also OMIM:215150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001907661G → R in OSMED. 1 PublicationCorresponds to variant rs121912945dbSNPEnsembl.1
Weissenbacher-Zweymueller syndrome (WZS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of bone changes and normal growth in later years. WZS is also referred to as heterozygous OSMED.
See also OMIM:277610
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0135951441G → E in WZS. 1 PublicationCorresponds to variant rs121912946dbSNPEnsembl.1
Deafness, autosomal dominant, 13 (DFNA13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:601868
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010655808G → E in DFNA13. 1 PublicationCorresponds to variant rs121912948dbSNPEnsembl.1
Natural variantiVAR_0106561034R → C in DFNA13. 1 PublicationCorresponds to variant rs121912947dbSNPEnsembl.1
Deafness, autosomal recessive, 53 (DFNB53)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:609706
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07273137A → S in DFNB53. 1 PublicationCorresponds to variant rs606231410dbSNPEnsembl.1
Natural variantiVAR_025276621P → T in DFNB53. 1 PublicationCorresponds to variant rs121912952dbSNPEnsembl.1
Natural variantiVAR_072732888P → T in DFNB53. 1 Publication1
Fibrochondrogenesis 2 (FBCG2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia.
See also OMIM:614524

Keywords - Diseasei

Deafness, Disease mutation, Dwarfism, Non-syndromic deafness, Stickler syndrome

Organism-specific databases

DisGeNETi1302.
MalaCardsiCOL11A2.
MIMi184840. phenotype.
215150. phenotype.
277610. phenotype.
601868. phenotype.
609706. phenotype.
614524. phenotype.
OpenTargetsiENSG00000204248.
ENSG00000206290.
ENSG00000227801.
ENSG00000230930.
ENSG00000235708.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
2021. Fibrochondrogenesis.
1427. Otospondylomegaepiphyseal dysplasia.
166100. Stickler syndrome type 3.
3450. Weissenbacher- Zweymuller syndrome.
PharmGKBiPA26703.

Chemistry databases

ChEMBLiCHEMBL2364188.

Polymorphism and mutation databases

BioMutaiCOL11A2.
DMDMi374095517.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000000584028 – 1736Collagen alpha-2(XI) chainAdd BLAST1709
PropeptideiPRO_00000058411501 – 1736C-terminal propeptideAdd BLAST236

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi1571 ↔ 1603PROSITE-ProRule annotation
Disulfide bondi1577InterchainPROSITE-ProRule annotation
Disulfide bondi1594InterchainPROSITE-ProRule annotation
Glycosylationi1604N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1612 ↔ 1733PROSITE-ProRule annotation
Disulfide bondi1655 ↔ 1689PROSITE-ProRule annotation

Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

PeptideAtlasiP13942.
PRIDEiP13942.

PTM databases

iPTMnetiP13942.
PhosphoSitePlusiP13942.

Expressioni

Gene expression databases

BgeeiENSG00000204248.
CleanExiHS_COL11A2.
ExpressionAtlasiP13942. baseline and differential.

Interactioni

Subunit structurei

Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II).

Binary interactionsi

WithEntry#Exp.IntActNotes
DDR2Q168322EBI-2515504,EBI-1381484

GO - Molecular functioni

  • protein binding, bridging Source: UniProtKB

Protein-protein interaction databases

BioGridi107699. 4 interactors.
IntActiP13942. 5 interactors.
MINTiMINT-5222373.

Structurei

3D structure databases

ProteinModelPortaliP13942.
SMRiP13942.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 228Laminin G-likeAdd BLAST172
Domaini399 – 447Collagen-like 1Add BLAST49
Domaini487 – 545Collagen-like 2Add BLAST59
Domaini546 – 590Collagen-like 3Add BLAST45
Domaini805 – 862Collagen-like 4Add BLAST58
Domaini863 – 899Collagen-like 5Add BLAST37
Domaini1099 – 1156Collagen-like 6Add BLAST58
Domaini1157 – 1172Collagen-like 7Add BLAST16
Domaini1441 – 1499Collagen-like 8Add BLAST59
Domaini1541 – 1735Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST195

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni215 – 486Nonhelical regionAdd BLAST272
Regioni487 – 1500Triple-helical regionAdd BLAST1014

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi298 – 301Poly-Glu4

Domaini

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).By similarity

Sequence similaritiesi

Belongs to the fibrillar collagen family.PROSITE-ProRule annotation
Contains 8 collagen-like domains.Curated
Contains 1 fibrillar collagen NC1 domain.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

GeneTreeiENSGT00840000129673.
HOGENOMiHOG000205337.
HOVERGENiHBG004933.
InParanoidiP13942.
KOiK19721.
OMAiYENTWIT.
OrthoDBiEOG091G01AE.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF01410. COLFI. 2 hits.
PF01391. Collagen. 6 hits.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00282. LamG. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

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

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Isoforms lack exons 6, 7 or 8 or a combination of these exons. Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: P13942-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA
60 70 80 90 100
KGICPADVAY RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL
110 120 130 140 150
LTLYSAQGVR QLGLELGRPV RFLYEDQTGR PQPPSQPVFR GLSLADGKWH
160 170 180 190 200
RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR PVLDTHGVII FGARILDEEV
210 220 230 240 250
FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ PHRAQRSPQQ
260 270 280 290 300
QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
310 320 330 340 350
EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY
360 370 380 390 400
GDDYREETEL GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP
410 420 430 440 450
PGPEGPAGLI GPPGIQGNPG PVGDPGERGP PGRAGLPGSD GAPGPPGTSL
460 470 480 490 500
MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ ARLALRGPPG PMGYTGRPGP
510 520 530 540 550
LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA GADGARGMPG
560 570 580 590 600
DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
610 620 630 640 650
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ
660 670 680 690 700
QGTPGTQGLP GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG
710 720 730 740 750
TKGNQGPSGP QGPLGYPGPR GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI
760 770 780 790 800
GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT GDPGPPGLMG EKGKLGVPGL
810 820 830 840 850
PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER GPTGPRGQRG
860 870 880 890 900
PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPLGPPGKD
910 920 930 940 950
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP
960 970 980 990 1000
PGEQGLPGTA GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG
1010 1020 1030 1040 1050
LKGNEGPSGP PGPAGSPGER GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP
1060 1070 1080 1090 1100
GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA GEDGDKGEVG DPGQKGTKGN
1110 1120 1130 1140 1150
KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK GDEGTRGFNG
1160 1170 1180 1190 1200
PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
1210 1220 1230 1240 1250
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP
1260 1270 1280 1290 1300
PGPKGPTGDD GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG
1310 1320 1330 1340 1350
QPGSPGPTGE NGPPGPLGKR GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT
1360 1370 1380 1390 1400
GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP GATGQAGPPG PVGPPGLPGL
1410 1420 1430 1440 1450
RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP GQKGEMGIPG
1460 1470 1480 1490 1500
ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
1510 1520 1530 1540 1550
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL
1560 1570 1580 1590 1600
REEIEQMRRP TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR
1610 1620 1630 1640 1650
VFCNFTAGGE TCVTPRDDVT QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD
1660 1670 1680 1690 1700
VSYPCSGAAR DGPLRLRGAN EDELSPETSP YVKEFRDGCQ TQQGRTVLEV
1710 1720 1730
RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG
Length:1,736
Mass (Da):171,791
Last modified:January 25, 2012 - v5
Checksum:iD687B7AAD6A7774C
GO
Isoform 2 (identifier: P13942-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-292: Missing.

Show »
Length:1,710
Mass (Da):168,698
Checksum:iA2EDA1C81EEA9D22
GO
Isoform 3 (identifier: P13942-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-313: Missing.

Show »
Length:1,715
Mass (Da):169,485
Checksum:i2362B2D6508A0C24
GO
Isoform 4 (identifier: P13942-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     314-373: Missing.

Show »
Length:1,676
Mass (Da):165,293
Checksum:iA87540ED78D3E198
GO
Isoform 5 (identifier: P13942-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-292: Missing.
     293-313: Missing.

Show »
Length:1,689
Mass (Da):166,393
Checksum:iD53384E69D99D454
GO
Isoform 6 (identifier: P13942-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-292: Missing.
     314-373: Missing.

Show »
Length:1,650
Mass (Da):162,201
Checksum:i1ECC3F4C92956F3F
GO
Isoform 7 (identifier: P13942-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-313: Missing.
     314-373: Missing.

Show »
Length:1,655
Mass (Da):162,988
Checksum:i125F75A575246E2E
GO
Isoform 8 (identifier: P13942-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-292: Missing.
     293-313: Missing.
     314-373: Missing.

Show »
Length:1,629
Mass (Da):159,895
Checksum:i9E095488C4B3C32F
GO
Isoform 9 (identifier: P13942-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-290: PTESLYYDYEPPYYDVMTTGTTPD → VRELGEPPSAAHPREGRHPGISPP
     291-1736: Missing.

Note: No experimental confirmation available.
Show »
Length:290
Mass (Da):31,960
Checksum:i7E59579056D3640F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7C → G in AAC50213 (PubMed:7559422).Curated1
Sequence conflicti7C → G in AAC50214 (PubMed:7559422).Curated1
Sequence conflicti7C → G in AAC50215 (PubMed:7559422).Curated1
Sequence conflicti85S → P in AAC17464 (PubMed:8838804).Curated1
Sequence conflicti85S → P in AAA35498 (PubMed:8325374).Curated1
Sequence conflicti97Q → R in AAC17464 (PubMed:8838804).Curated1
Sequence conflicti97Q → R in AAA35498 (PubMed:8325374).Curated1
Sequence conflicti530 – 531PP → SL in AAC50213 (PubMed:7559422).Curated2
Sequence conflicti530 – 531PP → SL in AAC50214 (PubMed:7559422).Curated2
Sequence conflicti530 – 531PP → SL in AAC50215 (PubMed:7559422).Curated2
Sequence conflicti530 – 531PP → SL in AAC17464 (PubMed:8838804).Curated2
Sequence conflicti530 – 531PP → SL in AAA35498 (PubMed:8325374).Curated2
Sequence conflicti542A → P in AAA35498 (PubMed:8325374).Curated1
Sequence conflicti548 – 549MP → TL in AAA35498 (PubMed:8325374).Curated2
Sequence conflicti578 – 579AQ → PR in AAA35498 (PubMed:8325374).Curated2
Sequence conflicti704 – 705NQ → KP in AAA35498 (PubMed:8325374).Curated2
Sequence conflicti720R → Q in AAA35498 (PubMed:8325374).Curated1
Sequence conflicti726D → N in AAA35498 (PubMed:8325374).Curated1
Sequence conflicti843 – 846TGPR → HGST in AAA52034 (PubMed:2760050).Curated4
Sequence conflicti882 – 884QGP → SGS in AAA52034 (PubMed:2760050).Curated3
Sequence conflicti1031 – 1032PP → RQ in AAC50213 (PubMed:7559422).Curated2
Sequence conflicti1031 – 1032PP → RQ in AAC50214 (PubMed:7559422).Curated2
Sequence conflicti1031 – 1032PP → RQ in AAC50215 (PubMed:7559422).Curated2
Sequence conflicti1031 – 1032PP → RQ in AAA52034 (PubMed:2760050).Curated2
Sequence conflicti1091D → V in AAA52034 (PubMed:2760050).Curated1
Sequence conflicti1124A → R in AAA52034 (PubMed:2760050).Curated1
Sequence conflicti1127 – 1133EPGARGP → GAGGLGT in AAA52034 (PubMed:2760050).Curated7
Sequence conflicti1253P → A in AAC50213 (PubMed:7559422).Curated1
Sequence conflicti1253P → A in AAC50214 (PubMed:7559422).Curated1
Sequence conflicti1253P → A in AAC50215 (PubMed:7559422).Curated1
Sequence conflicti1253P → A in AAA52034 (PubMed:2760050).Curated1
Sequence conflicti1257T → Q in AAC50213 (PubMed:7559422).Curated1
Sequence conflicti1257T → Q in AAC50214 (PubMed:7559422).Curated1
Sequence conflicti1257T → Q in AAC50215 (PubMed:7559422).Curated1
Sequence conflicti1257T → Q in AAA52034 (PubMed:2760050).Curated1
Sequence conflicti1552E → R in AAA52034 (PubMed:2760050).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07273137A → S in DFNB53. 1 PublicationCorresponds to variant rs606231410dbSNPEnsembl.1
Natural variantiVAR_048804236P → S.Corresponds to variant rs35116188dbSNPEnsembl.1
Natural variantiVAR_048805276E → K.Corresponds to variant rs9277934dbSNPEnsembl.1
Natural variantiVAR_013591593D → G.1 Publication1
Natural variantiVAR_025276621P → T in DFNB53. 1 PublicationCorresponds to variant rs121912952dbSNPEnsembl.1
Natural variantiVAR_001907661G → R in OSMED. 1 PublicationCorresponds to variant rs121912945dbSNPEnsembl.1
Natural variantiVAR_010655808G → E in DFNA13. 1 PublicationCorresponds to variant rs121912948dbSNPEnsembl.1
Natural variantiVAR_013592824E → K.1 PublicationCorresponds to variant rs1799909dbSNPEnsembl.1
Natural variantiVAR_013593879P → L.1 PublicationCorresponds to variant rs747883362dbSNPEnsembl.1
Natural variantiVAR_072732888P → T in DFNB53. 1 Publication1
Natural variantiVAR_048806894L → P.Corresponds to variant rs2855430dbSNPEnsembl.1
Natural variantiVAR_013594940 – 948Missing in STL3. 1 Publication9
Natural variantiVAR_0106561034R → C in DFNA13. 1 PublicationCorresponds to variant rs121912947dbSNPEnsembl.1
Natural variantiVAR_0135961316P → T.1 PublicationCorresponds to variant rs2229784dbSNPEnsembl.1
Natural variantiVAR_0135951441G → E in WZS. 1 PublicationCorresponds to variant rs121912946dbSNPEnsembl.1
Natural variantiVAR_0135971600R → Q.1 PublicationCorresponds to variant rs1799912dbSNPEnsembl.1
Natural variantiVAR_0337971628E → D.Corresponds to variant rs2229790dbSNPEnsembl.1
Natural variantiVAR_0488071722P → L.Corresponds to variant rs2229792dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001167267 – 292Missing in isoform 2, isoform 5, isoform 6 and isoform 8. CuratedAdd BLAST26
Alternative sequenceiVSP_043432267 – 290PTESL…GTTPD → VRELGEPPSAAHPREGRHPG ISPP in isoform 9. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_043433291 – 1736Missing in isoform 9. 1 PublicationAdd BLAST1446
Alternative sequenceiVSP_001168293 – 313Missing in isoform 3, isoform 5, isoform 7 and isoform 8. CuratedAdd BLAST21
Alternative sequenceiVSP_001169314 – 373Missing in isoform 4, isoform 6, isoform 7 and isoform 8. CuratedAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U32169 Genomic DNA. Translation: AAC50213.1.
U32169 Genomic DNA. Translation: AAC50214.1.
U32169 Genomic DNA. Translation: AAC50215.1.
AL031228 Genomic DNA. Translation: CAA20240.1.
AL645940 Genomic DNA. Translation: CAI18063.2.
AL662824 Genomic DNA. No translation available.
AL844527 Genomic DNA. Translation: CAM25784.1.
AL844527, AL845446 Genomic DNA. Translation: CAI41834.1.
AL845446, AL844527 Genomic DNA. Translation: CAI95551.1.
CR759733 Genomic DNA. Translation: CAQ10294.1.
CR759733 Genomic DNA. Translation: CAQ10296.1.
CR936877 Genomic DNA. Translation: CAQ09060.1.
CR936877 Genomic DNA. Translation: CAQ09062.1.
CH471081 Genomic DNA. Translation: EAX03676.1.
BC053886 mRNA. Translation: AAH53886.1.
U41069
, U41065, U41066, U41067 Genomic DNA. Translation: AAC17464.1.
L18987 mRNA. Translation: AAA35498.1.
J04974 mRNA. Translation: AAA52034.1.
CCDSiCCDS43452.1. [P13942-6]
CCDS54992.1. [P13942-9]
PIRiS34790. CGHU2E.
RefSeqiNP_001157243.1. NM_001163771.1. [P13942-9]
NP_542411.2. NM_080680.2.
NP_542412.2. NM_080681.2.
XP_016865739.1. XM_017010250.1.
UniGeneiHs.390171.

Genome annotation databases

EnsembliENST00000383087; ENSP00000372565; ENSG00000227801. [P13942-6]
ENST00000383088; ENSP00000372566; ENSG00000206290. [P13942-9]
ENST00000395194; ENSP00000378620; ENSG00000204248. [P13942-9]
ENST00000439039; ENSP00000410284; ENSG00000227801. [P13942-9]
ENST00000447741; ENSP00000400813; ENSG00000235708. [P13942-9]
ENST00000452937; ENSP00000406347; ENSG00000230930. [P13942-9]
ENST00000549811; ENSP00000449275; ENSG00000227801. [P13942-1]
ENST00000551542; ENSP00000447864; ENSG00000227801. [P13942-8]
GeneIDi1302.
KEGGihsa:1302.
UCSCiuc003ocx.1. human. [P13942-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U32169 Genomic DNA. Translation: AAC50213.1.
U32169 Genomic DNA. Translation: AAC50214.1.
U32169 Genomic DNA. Translation: AAC50215.1.
AL031228 Genomic DNA. Translation: CAA20240.1.
AL645940 Genomic DNA. Translation: CAI18063.2.
AL662824 Genomic DNA. No translation available.
AL844527 Genomic DNA. Translation: CAM25784.1.
AL844527, AL845446 Genomic DNA. Translation: CAI41834.1.
AL845446, AL844527 Genomic DNA. Translation: CAI95551.1.
CR759733 Genomic DNA. Translation: CAQ10294.1.
CR759733 Genomic DNA. Translation: CAQ10296.1.
CR936877 Genomic DNA. Translation: CAQ09060.1.
CR936877 Genomic DNA. Translation: CAQ09062.1.
CH471081 Genomic DNA. Translation: EAX03676.1.
BC053886 mRNA. Translation: AAH53886.1.
U41069
, U41065, U41066, U41067 Genomic DNA. Translation: AAC17464.1.
L18987 mRNA. Translation: AAA35498.1.
J04974 mRNA. Translation: AAA52034.1.
CCDSiCCDS43452.1. [P13942-6]
CCDS54992.1. [P13942-9]
PIRiS34790. CGHU2E.
RefSeqiNP_001157243.1. NM_001163771.1. [P13942-9]
NP_542411.2. NM_080680.2.
NP_542412.2. NM_080681.2.
XP_016865739.1. XM_017010250.1.
UniGeneiHs.390171.

3D structure databases

ProteinModelPortaliP13942.
SMRiP13942.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107699. 4 interactors.
IntActiP13942. 5 interactors.
MINTiMINT-5222373.

Chemistry databases

ChEMBLiCHEMBL2364188.

PTM databases

iPTMnetiP13942.
PhosphoSitePlusiP13942.

Polymorphism and mutation databases

BioMutaiCOL11A2.
DMDMi374095517.

Proteomic databases

PeptideAtlasiP13942.
PRIDEiP13942.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000383087; ENSP00000372565; ENSG00000227801. [P13942-6]
ENST00000383088; ENSP00000372566; ENSG00000206290. [P13942-9]
ENST00000395194; ENSP00000378620; ENSG00000204248. [P13942-9]
ENST00000439039; ENSP00000410284; ENSG00000227801. [P13942-9]
ENST00000447741; ENSP00000400813; ENSG00000235708. [P13942-9]
ENST00000452937; ENSP00000406347; ENSG00000230930. [P13942-9]
ENST00000549811; ENSP00000449275; ENSG00000227801. [P13942-1]
ENST00000551542; ENSP00000447864; ENSG00000227801. [P13942-8]
GeneIDi1302.
KEGGihsa:1302.
UCSCiuc003ocx.1. human. [P13942-1]

Organism-specific databases

CTDi1302.
DisGeNETi1302.
GeneCardsiCOL11A2.
GeneReviewsiCOL11A2.
H-InvDBHIX0033301.
HIX0166403.
HIX0166658.
HIX0166919.
HIX0167181.
HIX0167416.
HIX0184201.
HIX0207630.
HGNCiHGNC:2187. COL11A2.
MalaCardsiCOL11A2.
MIMi120290. gene.
184840. phenotype.
215150. phenotype.
277610. phenotype.
601868. phenotype.
609706. phenotype.
614524. phenotype.
neXtProtiNX_P13942.
OpenTargetsiENSG00000204248.
ENSG00000206290.
ENSG00000227801.
ENSG00000230930.
ENSG00000235708.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
2021. Fibrochondrogenesis.
1427. Otospondylomegaepiphyseal dysplasia.
166100. Stickler syndrome type 3.
3450. Weissenbacher- Zweymuller syndrome.
PharmGKBiPA26703.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00840000129673.
HOGENOMiHOG000205337.
HOVERGENiHBG004933.
InParanoidiP13942.
KOiK19721.
OMAiYENTWIT.
OrthoDBiEOG091G01AE.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112112-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-3000171. Non-integrin membrane-ECM interactions.
R-HSA-8874081. MET activates PTK2 signaling.

Miscellaneous databases

GeneWikiiCOL11A2_(gene).
GenomeRNAii1302.
PROiP13942.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204248.
CleanExiHS_COL11A2.
ExpressionAtlasiP13942. baseline and differential.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF01410. COLFI. 2 hits.
PF01391. Collagen. 6 hits.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00282. LamG. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOBA2_HUMAN
AccessioniPrimary (citable) accession number: P13942
Secondary accession number(s): A6NLX2
, E7ER90, Q07751, Q13271, Q13272, Q13273, Q5JP94, Q5SUI8, Q7Z6C3, Q99866, Q9UIP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 25, 2012
Last modified: November 30, 2016
This is version 199 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.