Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23469
Gene name Gene Name - the full gene name approved by the HGNC.
PHD finger protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHF3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0006351 Process Transcription, DNA-templated IEA
GO:0007275 Process Multicellular organism development NAS 11856869
GO:0046872 Function Metal ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607789 8921 ENSG00000118482
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Retinal dystrophy Retinal Dystrophies rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803
View all (2328 more)
26872967
Retinitis pigmentosa Retinitis Pigmentosa, Retinitis Pigmentosa 25 rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114
View all (1830 more)
30718709, 29550188, 20375346, 21069908, 18976725, 20537394, 24474277, 26261414, 26161267
Rod-cone dystrophy obsolete Rod-cone dystrophy rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 30571770 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Pancreatic Ductal Associate 32696980
Cardiotoxicity Associate 29247589
DNA Virus Infections Associate 27184836