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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O15054 |
| Protein name |
Lysine-specific demethylase 6B (EC 1.14.11.68) (JmjC domain-containing protein 3) (Jumonji domain-containing protein 3) (Lysine demethylase 6B) ([histone H3]-trimethyl-L-lysine(27) demethylase 6B) |
| Protein function |
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17825402, PubMed:17851529, PubMed:18003914). Demethylates trimethylated and dimethylated H3 'Lys-2 |
| PDB |
2XUE
, 2XXZ
, 4ASK
, 5FP3
, 5OY3
, 6F6D
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF02373 |
JmjC |
1377 → 1485 |
JmjC domain, hydroxylase |
Domain |
|
| Sequence |
MHRAVDPPGARAAREAFALGGLSCAGAWSSCPPHPPPRSAWLPGGRCSASIGQPPLPAPL PPSHGSSSGHPSKPYYAPGAPTPRPLHGKLESLHGCVQALLREPAQPGLWEQLGQLYESE HDSEEATRCYHSALRYGGSFAELGPRIGRLQQAQLWNFHTGSCQHRAKVLPPLEQVWNLL HLEHKRNYGAKRGGPPVKRAAEPPVVQPVPPAALSGPSGEEGLSPGGKRRRGCNSEQTGL PPGLPLPPPPLPPPPPPPPPPPPPLPGLATSPPFQLTKPGLWSTLHGDAWGPERKGSAPP ERQEQRHSLPHPYPYPAPAYTAHPPGHRLVPAAPPGPGPRPPGAESHGCLPATRPPGSDL RESRVQRSRMDSSVSPAATTACVPYAPSRPPGLPGTTTSSSSSSSSNTGLRGVEPNPGIP GADHYQTPALEVSHHGRLGPSAHSSRKPFLGAPAATPHLSLPPGPSSPPPPPCPRLLRPP PPPAWLKGPACRAAREDGEILEELFFGTEGPPRPAPPPLPHREGFLGPPASRFSVGTQDS HTPPTPPTPTTSSSNSNSGSHSSSPAGPVSFPPPPYLARSIDPLPRPPSPAQNPQDPPLV PLTLALPPAPPSSCHQNTSGSFRRPESPRPRVSFPKTPEVGPGPPPGPLSKAPQPVPPGV GELPARGPRLFDFPPTPLEDQFEEPAEFKILPDGLANIMKMLDESIRKEEEQQQHEAGVA PQPPLKEPFASLQSPFPTDTAPTTTAPAVAVTTTTTTTTTTTATQEEEKKPPPALPPPPP LAKFPPPSQPQPPPPPPPSPASLLKSLASVLEGQKYCYRGTGAAVSTRPGPLPTTQYSPG PPSGATALPPTSAAPSAQGSPQPSASSSSQFSTSGGPWARERRAGEEPVPGPMTPTQPPP PLSLPPARSESEVLEEISRACETLVERVGRSATDPADPVDTAEPADSGTERLLPPAQAKE EAGGVAAVSGSCKRRQKEHQKEHRRHRRACKDSVGRRPREGRAKAKAKVPKEKSRRVLGN LDLQSEEIQGREKSRPDLGGASKAKPPTAPAPPSAPAPSAQPTPPSASVPGKKAREEAPG PPGVSRADMLKLRSLSEGPPKELKIRLIKVESGDKETFIASEVEERRLRMADLTISHCAA DVVRASRNAKVKGKFRESYLSPAQSVKPKINTEEKLPREKLNPPTPSIYLESKRDAFSPV LLQFCTDPRNPITVIRGLAGSLRLNLGLFSTKTLVEASGEHTVEVRTQVQQPSDENWDLT GTRQIWPCESSRSHTTIAKYAQYQASSFQESLQEEKESEDEESEEPDSTTGTPPSSAPDP KNHHIIKFGTNIDLSDAKRWKPQLQELLKLPAFMRVTSTGNMLSHVGHTILGMNTVQLYM KVPGSRTPGHQENNNFCSVNINIGPGDCEWFAVHEHYWETISAFCDRHGVDYLTGSWWPI LDDLYASNIPVYRFVQRPGDLVWINAGTVHWVQATGWCNNIAWNVGPLTAYQYQLALERY EWNEVKNVKSIVPMIHVSWNVARTVKISDPDLFKMIKFCLLQSMKHCQVQRESLVRAGKK IAYQGRVKDEPAYYCNECDVEVFNILFVTSENGSRNTYLVHCEGCARRRSAGLQGVVVLE QYRTEELAQAYDAFTLAPASTSR
|
|
| Sequence length |
1643 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Intellectual disability |
Likely pathogenic; Pathogenic |
rs2544521866 |
RCV005626626 |
| KDM6B-related disorder |
Likely pathogenic |
rs1294523865, rs2544524865, rs988670906, rs2544526628 |
RCV004749834 RCV005250241 RCV003403022 RCV003894683 |
| Malignant tumor of urinary bladder |
Likely pathogenic |
rs2078522713 |
RCV005930259 |
| Neurodevelopmental abnormality |
Pathogenic |
rs957520585 |
RCV001264704 |
| Neurodevelopmental delay |
Likely pathogenic; Pathogenic |
rs1597842212 |
RCV002274351 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
Pathogenic; Likely pathogenic |
rs59062945, rs2151375529, rs2078638223, rs2151379742, rs2151379880, rs1294523865, rs2151380462, rs2151379290, rs2151376850, rs2151378140, rs2078539742, rs1597842212, rs1311274985, rs761401181, rs2544536378, rs2544532487, rs2544527581, rs2544527999, rs747555402, rs2544531959, rs1567799458, rs2544521814, rs2544528754, rs2544532565, rs2544524391, rs2544520480, rs2544528647, rs2544533271, rs2544527912, rs1453375461, rs2544523985, rs2544536305, rs2544529915, rs2544529971, rs2544536369, rs2544521866, rs2544536867, rs1232287616, rs2544533842, rs2544526488, rs2544524865, rs1567790132, rs2078522713, rs2078705936, rs1952122839, rs1480815491, rs2544536342, rs2544533899, rs2544520280, rs2544526292, rs2544527637, rs2544533330, rs2544528620, rs2544525742, rs2544523557, rs1281715394, rs2544533127, rs1480163265, rs762876815, rs2544529151, rs2544532079, rs1274337429, rs2544518657, rs761981660, rs2544523614, rs1419688179, rs2544528436, rs2544534309, rs2544536389, rs2544525230, rs2544534894, rs2544524513, rs2544533809, rs769566928, rs957520585, rs2078522740, rs2078587931 View all (62 more) |
RCV001420566 RCV001775402 RCV003150459 RCV001827593 RCV002071025 RCV002086758 RCV002221946 RCV002245506 RCV005869753 RCV002272591 RCV002272913 RCV003150494 RCV003150496 RCV003150497 RCV003150498 RCV003150499 RCV003150500 RCV003150501 RCV003150502 RCV003150503 RCV003150504 RCV003150505 RCV003150506 RCV003150507 RCV003150508 RCV003150509 RCV003150510 RCV003150511 RCV003150512 RCV003150513 RCV003150514 RCV003150515 RCV003150516 RCV003150517 RCV003150518 RCV003150519 RCV003150520 RCV003150521 RCV003150522 RCV003150523 RCV003150524 RCV003150525 RCV003150526 RCV003150527 RCV003150528 RCV003150529 RCV003150530 RCV003150531 RCV003150532 RCV003150533 RCV003150534 RCV003150535 RCV003150536 RCV003150537 RCV003150538 RCV003150539 RCV003150540 RCV003150541 RCV003150542 RCV003150543 RCV003150554 RCV003150555 RCV002288314 RCV002289096 RCV002291426 RCV003128104 RCV003133855 RCV003148347 RCV003224986 RCV003482902 RCV004566398 RCV004555109 RCV004594859 RCV004594861 RCV000788044 RCV003150416 RCV003150417 RCV003150418 |
| See cases |
Pathogenic |
rs2151376850 |
RCV002252514 |
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|
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| Disease Name |
Relationship Type |
References |
| Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis |
Stimulate |
27755585 |
| Attention Deficit Disorder with Hyperactivity |
Associate |
33155823, 36251081 |
| Autism Spectrum Disorder |
Associate |
36251081 |
| Breast Neoplasms |
Associate |
21841772, 33962648, 37223020 |
| Carcinogenesis |
Associate |
35254477, 36564369 |
| Carcinoma Hepatocellular |
Associate |
25049231, 35254477 |
| Carcinoma Merkel Cell |
Associate |
34399838 |
| Carcinoma Non Small Cell Lung |
Associate |
26303949, 31210309 |
| Carcinoma Non Small Cell Lung |
Inhibit |
31155967 |
| Carcinoma Renal Cell |
Associate |
23057811, 26261509, 28177890 |
| Carcinoma Renal Cell |
Inhibit |
27983522 |
| Cardiovascular Diseases |
Associate |
34667186 |
| Cartilage Diseases |
Associate |
35831280 |
| Chromosome 1q21.1 Deletion Syndrome 1.35 Mb |
Associate |
23184418 |
| Colitis Ulcerative |
Associate |
33362389 |
| Colonic Neoplasms |
Associate |
21890490 |
| Colorectal Neoplasms |
Associate |
21890490 |
| COVID 19 |
Associate |
37486005 |
| Degloving Injuries |
Associate |
38013320 |
| Developmental Disabilities |
Associate |
36251081 |
| Diabetes Mellitus Type 2 |
Inhibit |
32210958 |
| Esophageal Squamous Cell Carcinoma |
Associate |
33318475 |
| Glioblastoma |
Associate |
28384648 |
| Glioma |
Associate |
25652587 |
| Gout |
Associate |
33155823 |
| Hashimoto Disease |
Associate |
20714105 |
| Hypertension |
Associate |
34667186 |
| Hypoxia |
Inhibit |
25351418 |
| Hypoxia |
Stimulate |
33318475 |
| Hypoxia |
Associate |
35930654 |
| Hypoxia Brain |
Associate |
27529370, 33318475 |
| Hypoxia Brain |
Inhibit |
34667186 |
| Inflammation |
Associate |
25652587 |
| Inflammation |
Inhibit |
32210958 |
| Intracranial Aneurysm |
Associate |
37286519 |
| Leukemia |
Associate |
29224413, 29477140 |
| Leukemia Biphenotypic Acute |
Associate |
36213329 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
39327604 |
| Leukemia Myeloid |
Associate |
29224413 |
| Lupus Erythematosus Systemic |
Associate |
28430662, 36213329 |
| Lymphatic Metastasis |
Associate |
26261509 |
| Lymphatic Metastasis |
Inhibit |
31155967 |
| Lymphatic Metastasis |
Stimulate |
31210309 |
| Lymphoma Large B Cell Diffuse |
Associate |
27742770 |
| Mesothelioma Malignant |
Associate |
27529370 |
| Monosomy |
Inhibit |
25593028 |
| Multiple Myeloma |
Associate |
28487543 |
| Myelodysplastic Syndromes |
Associate |
23538751 |
| Neoplasm Metastasis |
Inhibit |
26303949 |
| Neoplasm Metastasis |
Stimulate |
31210309, 36564369 |
| Neoplasms |
Stimulate |
23057811, 31210309 |
| Neoplasms |
Associate |
24046371, 25593028, 25652587, 27800026, 27983522, 28487543, 30696880, 35887001, 36564369, 37658535 |
| Neoplasms |
Inhibit |
35855897 |
| Nerve Degeneration |
Inhibit |
35831280 |
| Neuroblastoma |
Associate |
34893606 |
| Osteoarthritis |
Associate |
27388528, 35831280 |
| Osteoglophonic dwarfism |
Associate |
33546766 |
| Ovarian Diseases |
Associate |
28849826 |
| Ovarian Neoplasms |
Associate |
26864203, 28849826 |
| Periodontitis |
Associate |
32210958 |
| Prostatic Neoplasms |
Associate |
37840069 |
| Retinitis Pigmentosa |
Associate |
33546766 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
25275298, 35855897 |
| Stomach Neoplasms |
Associate |
30696880 |
| Stomach Neoplasms |
Stimulate |
36564369 |
| Urethral Neoplasms |
Associate |
37658535 |
| Urinary Bladder Neoplasms |
Stimulate |
27983522 |
| Urinary Bladder Neoplasms |
Associate |
37658535 |
| Uterine Cervical Neoplasms |
Associate |
21245294 |
| Uterine Cervicitis |
Associate |
21245294 |
| Uveal melanoma |
Associate |
25593028 |
| Wounds and Injuries |
Inhibit |
35831280 |
|