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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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O94953 |
| Protein name |
Lysine-specific demethylase 4B (EC 1.14.11.66) (JmjC domain-containing histone demethylation protein 3B) (Jumonji domain-containing protein 2B) ([histone H3]-trimethyl-L-lysine(9) demethylase 4B) |
| Protein function |
Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Only able to demethylate trimethylated H3 'Lys-9 |
| PDB |
4LXL
, 4UC4
, 7JM5
, 9H44
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF02375 |
JmjN |
16 → 50 |
jmjN domain |
Family |
| PF02373 |
JmjC |
176 → 292 |
JmjC domain, hydroxylase |
Domain |
| PF13831 |
PHD_2 |
754 → 789 |
|
Family |
| PF13832 |
zf-HC5HC2H_2 |
795 → 906 |
|
Domain |
| PF18104 |
Tudor_2 |
922 → 956 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
| PF18104 |
Tudor_2 |
980 → 1014 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
|
| Sequence |
|
| Sequence length |
1096 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Intellectual developmental disorder, autosomal dominant 65 |
Pathogenic; Likely pathogenic |
rs2145822607, rs2146074788, rs2146057065, rs746714213, rs1231991589, rs2512133290, rs2512571434, rs748669919, rs2512166678, rs2512151147, rs2512130849, rs2039680672, rs2512537089, rs2512571628, rs151146933 |
RCV001420723 RCV001420724 RCV001420725 RCV001800248 RCV002227606 RCV002465450 RCV002468851 RCV002776564 RCV003120333 RCV003123257 RCV003322698 RCV003447849 RCV003986086 RCV003992142 RCV001420726 |
| Neurodevelopmental delay |
Likely pathogenic |
rs2146060644 |
RCV002274350 |
| Neurodevelopmental disorder |
Likely pathogenic |
rs2146018043 |
RCV002277638 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cholangiocarcinoma |
Benign |
rs148314771 |
RCV005911630 |
| Developmental disorder |
Uncertain significance |
rs780782889 |
RCV003764460 |
| Familial cancer of breast |
Benign |
rs2613739, rs148314771 |
RCV005915273 RCV005911626 |
| KDM4B-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign |
rs143239564, rs936726492, rs150616189, rs2512147429, rs960371558, rs747372978, rs1397820479, rs2512234473, rs781760371, rs769976056, rs144327370, rs369236395, rs374489612, rs1029259660, rs202201915, rs2512132410, rs773359252 View all (2 more) |
RCV003900909 RCV003963787 RCV003402596 RCV003406095 RCV003394508 RCV003412349 RCV003412409 RCV003392972 RCV003420982 RCV003946568 RCV003908909 RCV003938958 RCV003896876 RCV003902168 RCV003902054 RCV003934302 RCV003962254 |
| Lung cancer |
Benign |
rs148314771 |
RCV005911631 |
| Neurodevelopmental abnormality |
Uncertain significance |
rs1470477522 |
RCV001775504 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs148314771 |
RCV005911627 |
| See cases |
Uncertain significance; Conflicting classifications of pathogenicity |
rs2145667461, rs201358147 |
RCV002252946 RCV003128487 |
| Syndromic global developmental delay |
Conflicting classifications of pathogenicity |
rs1395918076 |
RCV001263456 |
| Thymoma |
Benign |
rs148314771 |
RCV005911629 |
| Uterine carcinosarcoma |
Benign |
rs148314771 |
RCV005911628 |
| Uterine corpus endometrial carcinoma |
Benign |
rs148314771 |
RCV005911632 |
|
| Disease Name |
Relationship Type |
References |
| Arthritis Rheumatoid |
Associate |
33909202 |
| Asthma |
Associate |
33688506 |
| Breast Neoplasms |
Associate |
20682797, 23723241, 25725194 |
| Carcinogenesis |
Associate |
30683841, 31647098 |
| Carcinoma Hepatocellular |
Associate |
27487123 |
| Carcinoma Non Small Cell Lung |
Associate |
26722485 |
| Carcinoma Renal Cell |
Associate |
36952476 |
| Colorectal Neoplasms |
Associate |
26511091 |
| Glioblastoma |
Associate |
38093312 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
21502505 |
| Hypoxia |
Associate |
18984585, 20682797 |
| Hypoxia Brain |
Stimulate |
18984585, 32034099 |
| Inflammation |
Associate |
33909202 |
| Kidney Neoplasms |
Associate |
18984585 |
| Monosomy |
Inhibit |
25593028 |
| Motor Disorders |
Associate |
38181310 |
| Neoplasm Metastasis |
Associate |
32802732, 36952476 |
| Neoplasms |
Associate |
25593028, 27487123, 32802732, 33275145, 33909202, 35857643, 36952476, 38093312 |
| Osteosarcoma |
Associate |
32802732 |
| Pancreatic Neoplasms |
Associate |
26511091 |
| Prostatic Neoplasms |
Associate |
24971742, 34417538 |
| Prostatic Neoplasms Castration Resistant |
Associate |
31647098 |
| Rhabdomyosarcoma |
Associate |
35857643 |
| Status Asthmaticus |
Stimulate |
33688506 |
| Stomach Neoplasms |
Associate |
30683841 |
| Uveal melanoma |
Associate |
25593028 |
|