Gene Gene information from NCBI Gene database.
Entrez ID 51105
Gene name PHD finger protein 20 like 1
Gene symbol PHF20L1
Synonyms (NCBI Gene)
CGI-72TDRD20BURLC1
Chromosome 8
Chromosome location 8q24.22
miRNA miRNA information provided by mirtarbase database.
324
miRTarBase ID miRNA Experiments Reference
MIRT020043 hsa-miR-375 Microarray 20215506
MIRT031038 hsa-miR-21-5p Microarray 18591254
MIRT039060 hsa-miR-769-3p CLASH 23622248
MIRT655168 hsa-miR-212-3p HITS-CLIP 23824327
MIRT655167 hsa-miR-132-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16415788
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IEA
GO:0005654 Component Nucleoplasm TAS
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620050 24280 ENSG00000129292
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8MW92
Protein name PHD finger protein 20-like protein 1
Protein function Is a negative regulator of proteasomal degradation of a set of methylated proteins, including DNMT1 and SOX2 (PubMed:24492612, PubMed:29358331). Involved in the maintainance of embryonic stem cells pluripotency, through the regulation of SOX2 le
PDB 2EQM , 2EQU , 2JTF , 6L0X , 6L10 , 6L1C , 6L1F , 6L1I , 6L1P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02820 MBT 18 69 mbt repeat Domain
PF18104 Tudor_2 90 123 Jumonji domain-containing protein 2A Tudor domain Domain
PF12618 DUF3776 211 319 Protein of unknown function (DUF3776) Family
PF16660 PHD20L1_u1 318 414 Disordered
Sequence
MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYW
DSNRLRPLE
RPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQF
YDG
VIRCLKRMHIKAMPEDAKGQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAA
AAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETF
GLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKED
YNETAPMLEQAISPKPQ
SQKKNEADISSSANTQKPALLSSTLSSGKARSKKCKHESGDSS
GCIKPPKSPLSPELIQVEDLTLVSQLSSSVINKTSPPQPVNPPRPFKHSERRRR
SQRLAT
LPMPDDSVEKVSSPSPATDGKVFSISSQNQQESSVPEVPDVAHLPLEKLGPCLPLDLSRG
SEVTAPVASDSSYRNECPRAEKEDTQMLPNPSSKAIADGRGAPAAAGISKTEKKVKLEDK
SSTAFGKRKEKDKERREKRDKDHYRPKQKKKKKKKKKSKQHDYSDYEDSSLEFLERCSSP
LTRSSGSSLASRSMFTEKTTTYQYPRAILSVDLSGENLSDVDFLDDSSTESLLLSGDEYN
QDFDSTNFEESQDEDDALNEIVRCICEMDEENGFMIQCEECLCWQHSVCMGLLEESIPEQ
YICYICRDPPGQRWSAKYRYDKEWLNNGRMCGLSFFKENYSHLNAKKIVSTHHLLADVYG
VTEVLHGLQLKIGILKNKHHPDLHLWACSGKRKDQDQIIAGVEKKIAQDTVNREEKKYVQ
NHKEPPRLPLKMEGTYITSEHSYQKPQSFGQDCKSLADPGSSDDDDVSSLEEEQEFHMRS
KNSLQYSAKEHGMPEKNPAEGNTVFVYNDKKGTEDPGDSHLQWQLNLLTHIENVQNEVTS
RMDLIEKEVDVLESWLDFTGELEPPDPLARLPQLKRHIKQLLIDMGKVQQIATLCSV
Sequence length 1017
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Anemia Sickle Cell Associate 23593351
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 24492612
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 23260012, 26588862, 32494608, 33847474
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 32494608
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 31796117
★☆☆☆☆
Found in Text Mining only
Growth Disorders Associate 32494608
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Associate 32494608
★☆☆☆☆
Found in Text Mining only
Hypoxia Associate 32494608
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 32494608, 33847474
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 22174824, 23260012, 32494608
★☆☆☆☆
Found in Text Mining only