Property Summary

NCBI Gene PubMed Count 9
PubMed Score 3.28
PubTator Score 1.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
non-small cell lung cancer 2798 1.62757306732892E-28
lung carcinoma 2844 5.45886816055483E-22
breast carcinoma 1614 8.31704885872157E-18
pituitary cancer 1972 1.36573548344856E-16
lung adenocarcinoma 2714 3.02308561041297E-14
ovarian cancer 8492 1.38084151796605E-10
Duchenne muscular dystrophy 602 1.60635643167024E-9
inflammatory breast cancer 404 2.58920559421218E-6
posterior fossa group A ependymoma 1511 1.26396209810291E-5
invasive ductal carcinoma 2950 1.38707821404322E-4
Atopic dermatitis 944 2.7210195962351E-4
psoriasis 6685 0.00133184806585318
ductal carcinoma in situ 1745 0.00904104272558265
atypical teratoid / rhabdoid tumor 4369 0.0186478089914705
fibroadenoma 557 0.0465593149274963
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Childhood leukemia 3 3.098 1.5

Expression

  Differential Expression (15)

Disease log2 FC p
posterior fossa group A ependymoma 2.100 0.000
atypical teratoid / rhabdoid tumor 1.200 0.019
Duchenne muscular dystrophy 1.590 0.000
Atopic dermatitis 2.900 0.000
non-small cell lung cancer -2.975 0.000
breast carcinoma -1.900 0.000
fibroadenoma -1.600 0.047
lung adenocarcinoma -2.500 0.000
invasive ductal carcinoma -4.100 0.000
psoriasis -1.300 0.001
inflammatory breast cancer -1.300 0.000
lung carcinoma -3.200 0.000
ductal carcinoma in situ -2.900 0.009
ovarian cancer -2.800 0.000
pituitary cancer -5.200 0.000

Synonym

Accession A6NMZ7 A7DZQ0 A7DZQ1 A7DZQ2 Q69YT0
Symbols

Gene

PANTHER Protein Class (1)

  Ortholog (4)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid

 CSPA Cell Line (2)

Gene RIF (6)

PMID Text
26321861 A whole-exome sequencing approach led to identification of a deletion in RHO through detection of a new linked variant in COL6A6 in autosomal dominant retinitis pigmentosa.
24907562 Reduced collagen VI alpha6 chain expression in the skeletal muscle is associated with collagen VI-related myopathies.
22226732 The collagen VI alpha6 chain, but not the alpha5 chain, is up-regulated in dystrophic muscles.
21406227 collagen VI alpha 6 is an important basal lamina component involved in the regulation of epithelial cell behavior most notably as a regulator of epithelial cell-fibronectin interactions
20882040 localization of alpha5, and to a lesser extent alpha6, is restricted to the papillary dermis, where the protein mainly colocalizes with collagen fibrils; both chains were found around blood vessels
18400749 The discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix.

AA Sequence

MMLLILFLVIICSHISVNQDSGPEYADVVFLVDSSDRLGSKSFPFVKMFITKMISSLPIEADKYRVALAQ      1 - 70
YSDKLHSEFHLSTFKGRSPMLNHLRKNFGFIGGSLQIGKALQEAHRTYFSAPANGRDKKQFPPILVVLAS     71 - 140
SESEDNVEEASKALRKDGVKIISVGVQKASEENLKAMATSQFHFNLRTVRDLSMFSQNMTHIIKDVIKYK    141 - 210
EGAVDDIFVEACQGPSMADVVFLLDMSINGSEENFDYLKGFLEESVSALDIKENCMRVGLVAYSNETKVI    211 - 280
NSLSMGINKSEVLQHIQNLSPRTGKAYTGAAIKKLRKEVFSARNGSRKNQGVPQIAVLVTHRDSEDNVTK    281 - 350
AAVNLRREGVTIFTLGIEGASDTQLEKIASHPAEQYVSKLKTFADLAAHNQTFLKKLRNQITHTVSVFSE    351 - 420
RTETLKSGCVDTEEADIYLLIDGSGSTQATDFHEMKTFLSEVVGMFNIAPHKVRVGAVQYADSWDLEFEI    421 - 490
NKYSNKQDLGKAIENIRQMGGNTNTGAALNFTLSLLQKAKKQRGNKVPCHLVVLTNGMSKDSILEPANRL    491 - 560
REEHIRVYAIGIKEANQTQLREIAGEEKRVYYVHDFDALKDIRNQVVQEICTEEACKEMKADIMFLVDSS    561 - 630
GSIGPENFSKMKTFMKNLVSKSQIGPDRVQIGVVQFSDINKEEFQLNRFMSQSDISNAIDQMAHIGQTTL    631 - 700
TGSALSFVSQYFSPTKGARPNIRKFLILITDGEAQDIVKEPAVVLRQEGVIIYSVGVFGSNVTQLEEISG    701 - 770
RPEMVFYVENFDILQRIEDDLVFGICSPREECKRIEVLDVVFVIDSSGSIDYDEYNIMKDFMIGLVKKAD    771 - 840
VGKNQVRFGALKYADDPEVLFYLDDFGTKLEVISVLQNDQAMGGSTYTAEALGFSDHMFTEARGSRLNKG    841 - 910
VPQVLIVITDGESHDADKLNATAKALRDKGILVLAVGIDGANPVELLAMAGSSDKYFFVETFGGLKGIFS    911 - 980
DVTASVCNSSKVDCEIDKVDLVFLMDGSTSIQPNDFKKMKEFLASVVQDFDVSLNRVRIGAAQFSDTYHP    981 - 1050
EFPLGTFIGEKEISFQIENIKQIFGNTHIGAALREVEHYFRPDMGSRINTGTPQVLLVLTDGQSQDEVAQ   1051 - 1120
AAEALRHRGIDIYSVGIGDVDDQQLIQITGTAEKKLTVHNFDELKKVNKRIVRNICTTAGESNCFVDVVV   1121 - 1190
GFDVSTQEKGQTLLEGQPWMETYLQDILRAISSLNGVSCEVGTETQVSVAFQVTNAMEKYSPKFEIYSEN   1191 - 1260
ILNSLKDITVKGPSLLNANLLDSLWDTFQNKSAARGKVVLLFSDGLDDDVEKLEQKSDELRKEGLNALIT   1261 - 1330
VALDGPADSSDLADLPYIEFGKGFEYRTQLSIGMRELGSRLSKQLVNVAERTCCCLFCKCIGGDGTMGDP   1331 - 1400
GPPGKRGPPGFKGSEGYLGEEGIAGERGAPGPVGEQGTKGCYGTKGPKGNRGLNGQEGEVGENGIDGLNG   1401 - 1470
EQGDNGLPGRKGEKGDEGSQGSPGKRGTPGDRGAKGLRGDPGAPGVDSSIEGPTGLKGERGRQGRRGWPG   1471 - 1540
PPGTPGSRRKTAAHGRRGHTGPQGTAGIPGPDGLEGSLGLKGPQGPRGEAGVKGEKGGVGSKGPQGPPGP   1541 - 1610
GGEAGNQGRLGSQGNKGEPGDLGEKGAVGFPGPRGLQGNDGSPGYGSVGRKGAKGQEGFPGESGPKGEIG   1611 - 1680
DPGGPGETGLKGARGKMISAGLPGEMGSPGEPGPPGRKGVKGAKGLASFSTCELIQYVRDRSPGRHGKPE   1681 - 1750
CPVHPTELVFALDHSRDVTEQEFERMKEMMAFLVRDIKVRENSCPVGAHIAILSYNSHARHLVRFSDAYK   1751 - 1820
KSQLLREIETIPYERSSASREIGRAMRFISRNVFKRTLPGAHTRKIATFFSSGQSADAHSITTAAMEFGA   1821 - 1890
LEIIPVVITFSNVPSVRRAFAIDDTGTFQVIVVPSGADYIPALERLQRCTFCYDVCKPDASCDQARPPPV   1891 - 1960
QSYMDAAFLLDASRNMGSAEFEDIRAFLGALLDHFEITPEPETSVTGDRVALLSHAPPDFLPNTQKSPVR   1961 - 2030
AEFNLTTYRSKRLMKRHVHESVKQLNGDAFIGHALQWTLDNVFLSTPNLRRNKVIFVISAGETSHLDGEI   2031 - 2100
LKKESLRAKCQGYALFVFSLGPIWDDKELEDLASHPLDHHLVQLGRIHKPDHSYGVKFVKSFINSIRRAI   2101 - 2170
NKYPPINLKIKCNRLNSIDPKQPPRPFRSFVPGPLKATLKEDVLQKAKFFQDKKYLSRVARSGRDDAIQN   2171 - 2240
FMRSTSHTFKNGRMIESAPKQHD                                                  2241 - 2263
//

Text Mined References (12)

PMID Year Title
26321861 2015 New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
24907562 2014 Defective collagen VI ?6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23869615 2013 The expanded collagen VI family: new chains and new questions.
22226732 2012 Expression of collagen VI ?5 and ?6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.
21406227 2011 Collagen VI is a basement membrane component that regulates epithelial cell-fibronectin interactions.
20882040 2011 Expression of the collagen VI ?5 and ?6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18400749 2008 Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI).
18276594 2008 Three novel collagen VI chains with high homology to the alpha3 chain.
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