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This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
JMJD6 (Jumonji Domain Containing 6, Arginine Demethylase And Lysine Hydroxylase) is a Protein Coding gene. Diseases associated with JMJD6 include Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency and Pancreatitis. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is JMJD4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0003713 | transcription coactivator activity | IMP | 21555454 |
GO:0003723 | RNA binding | TAS | 21060799 |
GO:0003727 | single-stranded RNA binding | IDA | 20679243 |
GO:0005506 | iron ion binding | IDA | 20679243 |
GO:0005515 | protein binding | IPI | 19574390 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IMP | 21555454 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005730 | nucleolus | IEA,IDA | 21060799 |
GO:0005737 | cytoplasm | IEA,IDA | 24498420 |
GO:0005829 | cytosol | IEA | -- |
SuperPathway | Contained pathways | ||
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1 | Chromatin organization | ||
2 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001568 | blood vessel development | IEA | -- |
GO:0001822 | kidney development | IEA | -- |
GO:0002040 | sprouting angiogenesis | ISS | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006397 | mRNA processing | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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PS(14:0/14:0) |
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PS(14:0/14:1(9Z)) |
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PS(14:0/16:0) |
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PS(14:0/16:1(9Z)) |
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PS(14:0/18:0) |
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ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
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SP1: | - | ||||||||||||||||
SP2: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | JMJD6 30 31 |
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OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | JMJD6 31 |
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OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | JMJD6 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | JMJD6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | JMJD6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Jmjd6 30 17 31 |
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OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Jmjd6 30 |
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Chicken (Gallus gallus) |
Aves | JMJD6 30 31 |
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OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | JMJD6 31 |
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OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | jmjd6 30 |
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Str.7456 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | cg5383-prov 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | jmjd6 30 31 |
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OneToOne | |
LOC266962 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000158 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | PSR 30 31 |
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OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | psr-1 30 31 |
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OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6953 31 |
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OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8912 30 |
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SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
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723445 | Benign: not provided | 76,725,508(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
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myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency |
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pancreatitis |
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polyomavirus-associated nephropathy |
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gingival recession |
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obsessive-compulsive personality disorder |
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