Gene Gene information from NCBI Gene database.
Entrez ID 23469
Gene name PHD finger protein 3
Gene symbol PHF3
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6q12
Summary This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 20
miRNA miRNA information provided by mirtarbase database.
137
miRTarBase ID miRNA Experiments Reference
MIRT019971 hsa-miR-375 Microarray 20215506
MIRT020337 hsa-miR-130b-3p Sequencing 20371350
MIRT027369 hsa-miR-101-3p Sequencing 20371350
MIRT051438 hsa-let-7e-5p CLASH 23622248
MIRT655151 hsa-miR-4530 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IBA
GO:0006351 Process DNA-templated transcription IEA
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA
GO:0008270 Function Zinc ion binding IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607789 8921 ENSG00000118482
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92576
Protein name PHD finger protein 3
PDB 2DME , 6IC8 , 6IC9 , 6Q2V , 6Q5Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00628 PHD 719 772 PHD-finger Domain
PF07500 TFIIS_M 925 1038 Transcription factor S-II (TFIIS), central domain Domain
PF07744 SPOC 1199 1349 SPOC domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expression is significantly reduced or lost in glioblastomas, glioblastoma cell lines, anaplastic astrocytomas, and astrocytomas. {ECO:0000269|PubMed:11856869}.
Sequence
MDIVDTFNHLIPTEHLDDALFLGSNLENEVCEDFSASQNVLEDSLKNMLSDKDPMLGSAS
NQFCLPVLDSNDPNFQMPCSTVVGLDDIMDEGVVKESGNDTIDEEELILPNRNLRDKVEE
NSVRSPRKSPRLMAQEQVRSLRQSTIAKRSNAAPLSNTKKASGKTVSTAKAGVKQPERSQ
VKEEVCMSLKPEYHKENRRCSRNSGQIEVVPEVSVSSSHSSVSSCLEMKDEDGLDSKHKC
NNPGEIDVPSHELNCSLLSETCVTIGEKKNEALMECKAKPVGSPLFKFSDKEEHEQNDSI
SGKTGETVVEEMIATRKVEQDSKETVKLSHEDDHILEDAGSSDISSDAACTNPNKTENSL
VGLPSCVDEVTECNLELKDTMGIADKTENTLERNKIEPLGYCEDAESNRQLESTEFNKSN
LEVVDTSTFGPESNILENAICDVPDQNSKQLNAIESTKIESHETANLQDDRNSQSSSVSY
LESKSVKSKHTKPVIHSKQNMTTDAPKKIVAAKYEVIHSKTKVNVKSVKRNTDVPESQQN
FHRPVKVRKKQIDKEPKIQSCNSGVKSVKNQAHSVLKKTLQDQTLVQIFKPLTHSLSDKS
HAHPGCLKEPHHPAQTGHVSHSSQKQCHKPQQQAPAMKTNSHVKEELEHPGVEHFKEEDK
LKLKKPEKNLQPRQRRSSKSFSLDEPPLFIPDNIATIRREGSDHSSSFESKYMWTPSKQC
GFCKKPHGNRFMVGCGRCDDWFHGDCVGLSLSQAQQMGEEDKEYVCVKCCAE
EDKKTEIL
DPDTLENQATVEFHSGDKTMECEKLGLSKHTTNDRTKYIDDTVKHKVKILKRESGEGRNS
SDCRDNEIKKWQLAPLRKMGQPVLPRRSSEEKSEKIPKESTTVTCTGEKASKPGTHEKQE
MKKKKVEKGVLNVHPAASASKPSADQIRQSVRHSLKDILMKRLTDSNLKVPEEKAAKVAT
KIEKELFSFFRDTDAKYKNKYRSLMFNLKDPKNNILFKKVLKGEVTPDHLIRMSPEELAS
KELAAWRRRENRHTIEMI
EKEQREVERRPITKITHKGEIEIESDAPMKEQEAAMEIQEPA
ANKSLEKPEGSEKQKEEVDSMSKDTTSQHRQHLFDLNCKICIGRMAPPVDDLSPKKVKVV
VGVARKHSDNEAESIADALSSTSNILASEFFEEEKQESPKSTFSPAPRPEMPGTVEVEST
FLARLNFIWKGFINMPSVAKFVTKAYPVSGSPEYLTEDLPDSIQVGGRISPQTVWDYVEK
IKASGTKEICVVRFTPVTEEDQISYTLLFAYFSSRKRYGVAANNMKQVKDMYLIPLGATD
KIPHPLVPFDGPGLELHRPNLLLGLIIRQ
KLKRQHSACASTSHIAETPESAPPIALPPDK
KSKIEVSTEEAPEEENDFFNSFTTVLHKQRNKPQQNLQEDLPTAVEPLMEVTKQEPPKPL
RFLPGVLIGWENQPTTLELANKPLPVDDILQSLLGTTGQVYDQAQSVMEQNTVKEIPFLN
EQTNSKIEKTDNVEVTDGENKEIKVKVDNISESTDKSAEIETSVVGSSSISAGSLTSLSL
RGKPPDVSTEAFLTNLSIQSKQEETVESKEKTLKRQLQEDQENNLQDNQTSNSSPCRSNV
GKGNIDGNVSCSENLVANTARSPQFINLKRDPRQAAGRSQPVTTSESKDGDSCRNGEKHM
LPGLSHNKEHLTEQINVEEKLCSAEKNSCVQQSDNLKVAQNSPSVENIQTSQAEQAKPLQ
EDILMQNIETVHPFRRGSAVATSHFEVGNTCPSEFPSKSITFTSRSTSPRTSTNFSPMRP
QQPNLQHLKSSPPGFPFPGPPNFPPQSMFGFPPHLPPPLLPPPGFGFAQNPMVPWPPVVH
LPGQPQRMMGPLSQASRYIGPQNFYQVKDIRRPERRHSDPWGRQDQQQLDRPFNRGKGDR
QRFYSDSHHLKRERHEKEWEQESERHRRRDRSQDKDRDRKSREEGHKDKERARLSHGDRG
TDGKASRDSRNVDKKPDKPKSEDYEKDKEREKSKHREGEKDRDRYHKDRDHTDRTKSKR
Sequence length 2039
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTIGMATISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma BEFREE 11856869
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32696980 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 11464277, 11856869
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma LHGDN 11856869, 15906353
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 11464277, 11856869
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 30571770
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
obsolete Rod-cone dystrophy Rod-cone dystrophy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Retinal Dystrophies Retinal Dystrophy CLINVAR_DG 26872967
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa Retinitis Pigmentosa CLINVAR_DG 29550188, 30718709
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa 25 Retinitis Pigmentosa CLINVAR_DG 18976725, 20375346, 20537394, 21069908, 24474277, 26161267, 26261414
★★☆☆☆
Found in Text Mining + Unknown/Other Associations