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This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
KDM3A (Lysine Demethylase 3A) is a Protein Coding gene. Diseases associated with KDM3A include Ewing Sarcoma and Familial Isolated Hypoparathyroidism. 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 DNA-binding transcription factor activity and core promoter binding. An important paralog of this gene is KDM3B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003682 | chromatin binding | IEA | -- |
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0005506 | iron ion binding | IMP | 16603237 |
GO:0005515 | protein binding | IPI | 25535969 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000118 | histone deacetylase complex | IBA | 21873635 |
GO:0000785 | chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IEA,IDA | 16603237 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0007290 | spermatid nucleus elongation | IEA | -- |
GO:0009755 | hormone-mediated signaling pathway | IDA | 16603237 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | · | 27c | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KDM3A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KDM3A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KDM3A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kdm3a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kdm3a 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KDM3A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KDM3A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KDM3A 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kdm3a 30 |
|
||
Str.15267 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2818 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | JHDM2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7055 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835013 | Uncertain Significance: not provided | 86,466,385(+) |
AG/A NM_018433.6(KDM3A):c.1022del (p.Ser341fs) |
FRAMESHIFT | |
rs1207228552 | Likely Benign: not provided | 86,451,218(+) |
A/G NM_018433.6(KDM3A):c.453+5A>G |
INTRON | |
rs193921056 | Uncertain Significance: Malignant tumor of prostate | 86,482,107(+) |
GTGTT/G NM_018433.6(KDM3A):c.2685+6TGTT[2] |
INTRON | |
rs34673273 | Benign: not provided | 86,482,581(+) |
C/T NM_018433.6(KDM3A):c.2809C>T (p.Leu937=) |
SYNONYMOUS | |
rs569604500 | Likely Benign: not provided | 86,485,753(+) |
T/C NM_018433.6(KDM3A):c.3207T>C (p.Ile1069=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1129640 | CNV | tandem duplication | 24896259 |
nsv2813 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ewing sarcoma |
|
|
familial isolated hypoparathyroidism |
|
|