Property Summary

NCBI Gene PubMed Count 55
PubMed Score 56.26
PubTator Score 51.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 1.51775663902168E-14
Breast cancer 3099 2.56213043703376E-14
juvenile dermatomyositis 1189 1.04150841725636E-9
malignant mesothelioma 3163 1.53182217912783E-8
Duchenne muscular dystrophy 602 2.0964688132527E-8
sonic hedgehog group medulloblastoma 1482 4.18449870303749E-8
posterior fossa group A ependymoma 1511 4.71559459688322E-7
ulcerative colitis 2087 1.45734100806287E-6
ovarian cancer 8492 1.02812640211079E-5
glioblastoma multiforme 347 1.07059076288808E-5
primary pancreatic ductal adenocarcinoma 1271 3.72519928815948E-5
interstitial cystitis 2299 4.93664544432232E-5
pancreatic cancer 2300 7.28933139935557E-5
medulloblastoma, large-cell 6234 1.12820029785887E-4
limb girdle muscular dystrophy 2A 156 2.1644687321044E-4
lung adenocarcinoma 2714 2.52011938912271E-4
acute quadriplegic myopathy 1157 0.00101647694412066
osteosarcoma 7933 0.00135306470383722
primary Sjogren syndrome 789 0.00161918209717682
nasopharyngeal carcinoma 1056 0.00166151613487511
Becker muscular dystrophy 187 0.00204063839713628
gastric carcinoma 832 0.00221332679843035
tuberculosis 1563 0.00277714828287378
pilocytic astrocytoma 3086 0.00515636943224827
psoriasis 6685 0.00584395355208552
pterygium 74 0.0117089144241083
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0135201796298284
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0188177060500814
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.0193648937353324
esophageal adenocarcinoma 737 0.0196023446516811
urothelial carcinoma 318 0.0243655049406736
pediatric high grade glioma 2712 0.0320702199630517
head and neck cancer and chronic obstructive pulmonary disease 237 0.0378693666918043
atypical teratoid / rhabdoid tumor 4369 0.0390497846590281
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Kidney cancer 121 0.0 1.0
Disease Target Count Z-score Confidence
Ullrich congenital muscular dystrophy 7 0.0 5.0
Disease Target Count Z-score Confidence
Dystonia 77 0.0 4.0
Disease Target Count Z-score Confidence
Muscular dystrophy 48 5.405 2.7
Pigmented villonodular synovitis 9 3.214 1.6

Expression

Synonym

Accession P12111 A8MT30 B4E3U5 B7ZMJ7 E9PFQ6 E9PGQ9 Q16501 Q53QF4 Q53QF6
Symbols DYT27
UCMD1
BTHLM1

Gene

PANTHER Protein Class (1)

PDB

1KNT   1KTH   1KUN   2KNT  

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG
Zebrafish OMA EggNOG Inparanoid

 GWAS Trait (1)

Gene RIF (25)

PMID Text
26338966 Data indicate that circulating plasma COL6A3 in colorectal cancer (CRC) patients was upregulated significantly comparing with healthy peoples.
26004199 Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
25635128 COL6A mutations were identified in eight cases having clinical phenotypes of Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM).
25449070 The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene is associated with the Bethlem myopathy with autosomal dominant inheritance.
25337653 This study showed that COL6A3 expression appeared to be lowered in obesity, whereas diet- and surgery-induced weight loss increased COL6A3 expression.
25204870 Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring.
24801232 In UCMD, 1 mutation was indentified in Chinese patients.
24719315 Increased adipocyte COL6A3 expression associates with insulin resistance; COL6A3 mRNA associates with small adipocyte size
24647224 Data indicate that endotrophin (COL6alpha3) levels are higher in diabetic patients.
24443028 Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review)
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AA Sequence

MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLA      1 - 70
VGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGD     71 - 140
GVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIV    141 - 210
GNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIR    211 - 280
VGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVL    281 - 350
VLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIV    351 - 420
GVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYA    421 - 490
DTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGK    491 - 560
SLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGT    561 - 630
PEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKS    631 - 700
DILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAG    701 - 770
ILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILF    771 - 840
LFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKT    841 - 910
GKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADP    911 - 980
AELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEF    981 - 1050
VQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNIL   1051 - 1120
VSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPT   1121 - 1190
FRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVD   1191 - 1260
YLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGS   1261 - 1330
RIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSL   1331 - 1400
EQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGP   1401 - 1470
SKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGV   1471 - 1540
PQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIM   1541 - 1610
NSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGL   1611 - 1680
VQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVI   1681 - 1750
TGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAM   1751 - 1820
HETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVV   1821 - 1890
ANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLA   1891 - 1960
DLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACC   1961 - 2030
GVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP   2031 - 2100
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPK   2101 - 2170
GETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPG   2171 - 2240
LIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKK   2241 - 2310
GERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALI   2311 - 2380
QSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTY   2381 - 2450
NNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPT   2451 - 2520
RASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDI   2521 - 2590
CNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQH   2591 - 2660
FARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESA   2661 - 2730
PNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDK   2731 - 2800
STELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNP   2801 - 2870
VTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPAT   2871 - 2940
AAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWE   2941 - 3010
RAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQ   3011 - 3080
PPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNEN   3081 - 3150
KFGSQKECEKVCAPVLAKPGVISVMGT                                              3151 - 3177
//

Text Mined References (62)

PMID Year Title
26338966 2015 Stroma derived COL6A3 is a potential prognosis marker of colorectal carcinoma revealed by quantitative proteomics.
26004199 2015 Recessive mutations in the ?3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
25635128 2015 Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
25449070 2014 [Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene].
25337653 2015 COL6A3 is regulated by leptin in human adipose tissue and reduced in obesity.
25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
24801232 2014 Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
24769233 2014 Proteomic analysis of cerebrospinal fluid extracellular vesicles: a comprehensive dataset.
24719315 2014 COL6A3 expression in adipocytes associates with insulin resistance and depends on PPAR? and adipocyte size.
24647224 2014 Endotrophin triggers adipose tissue fibrosis and metabolic dysfunction.
More...