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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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O75151 |
| Protein name |
Lysine-specific demethylase PHF2 (EC 1.14.11.-) (GRC5) (PHD finger protein 2) |
| Protein function |
Lysine demethylase that demethylates both histones and non-histone proteins (PubMed:20129925, PubMed:21167174, PubMed:21532585). Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B a |
| PDB |
3KQI
, 3PTR
, 3PU3
, 3PU8
, 3PUA
, 3PUS
, 7M10
, 8F8Y
, 8F8Z
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00628 |
PHD |
7 → 56 |
PHD-finger |
Domain |
| PF02373 |
JmjC |
236 → 336 |
JmjC domain, hydroxylase |
Domain |
| PF17811 |
JHD |
340 → 443 |
Jumonji helical domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed, including in liver (at protein level). {ECO:0000269|PubMed:21532585}. |
| Sequence |
|
| Sequence length |
1096 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs138464551 |
RCV005907804 |
| Autism spectrum disorder |
Conflicting classifications of pathogenicity; Likely benign |
rs2490108901, rs767117830 |
RCV003127322 RCV003127323 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign; Likely benign |
rs138464551 |
RCV005907810 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs138464551 |
RCV005907805 |
| Colon adenocarcinoma |
Benign; Likely benign |
rs138464551 |
RCV005907803 |
| Familial cancer of breast |
Benign; Likely benign |
rs138464551 |
RCV005907802 |
| Lung cancer |
Benign; Likely benign |
rs138464551 |
RCV005907809 |
| Malignant tumor of urinary bladder |
Benign |
rs140677384 |
RCV005902507 |
| Neurodevelopmental disorder |
Uncertain significance |
rs769717544 |
RCV003389194 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs138464551 |
RCV005907807 |
| PHF2-related disorder |
Benign; Uncertain significance; Likely benign |
rs9695734, rs774348404, rs201835809, rs35505758, rs758231547, rs138199711, rs41276200, rs199708981, rs139132481, rs1007572113, rs116444936, rs781374042, rs140577032, rs146063352, rs73523907, rs79708182, rs10992855, rs79775104 View all (3 more) |
RCV003975888 RCV003400005 RCV003404535 RCV003919730 RCV003929653 RCV003929752 RCV003917308 RCV003964577 RCV003941658 RCV003939483 RCV003959379 RCV003954764 RCV003957061 RCV003924276 RCV003932222 RCV003926050 RCV003922871 RCV003972961 |
| Prostate cancer |
Uncertain significance |
rs193921057 |
RCV000149169 |
| Sarcoma |
Benign; Likely benign |
rs138464551 |
RCV005907806 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance; Benign; Likely benign |
rs761181154, rs138464551 |
RCV005939390 RCV005907808 |
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