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DPF2 (double PHD fingers 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5977
Gene nameGene Name - the full gene name approved by the HGNC.
Double PHD fingers 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DPF2
SynonymsGene synonyms aliases
CSS7, REQ, SMARCG2, UBID4, ubi-d4
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival fa
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555031372 G>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555031500 C>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555032044 A>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555032051 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555032074 G>A Pathogenic Splice donor variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022792 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT032431 hsa-let-7b-5p Proteomics 18668040
MIRT615267 hsa-miR-3126-3p HITS-CLIP 23824327
MIRT615266 hsa-miR-6752-3p HITS-CLIP 23824327
MIRT615265 hsa-miR-5088-3p 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:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 28533407
GO:0000785 Component Chromatin HDA 16217013
GO:0000785 Component Chromatin IDA 28533407
GO:0003712 Function Transcription coregulator activity IBA 21873635
GO:0003714 Function Transcription corepressor activity TAS 28533407
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q92785
Protein name Zinc finger protein ubi-d4 (Apoptosis response zinc finger protein) (BRG1-associated factor 45D) (BAF45D) (D4, zinc and double PHD fingers family 2) (Protein requiem)
Protein function Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:27775714, PubMed:28533407). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have
PDB 3IUF , 5B79 , 5VDC , 6LTH , 6LTJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14051 Requiem_N
13 84
N-terminal domain of DPF2/REQ.
Family
PF00628 PHD
272 330
PHD-finger
Domain
PF00628 PHD
329 376
PHD-finger
Domain
Sequence
MAAVVENVVKLLGEQYYKDAMEQCHNYNARLCAERSVRLPFLDSQTGVAQSNCYIWMEKR
HRGPGLASGQLYSYPARRWRKKRR
AHPPEDPRLSFPSIKPDTDQTLKKEGLISQDGSSLE
ALLRTDPLEKRGAPDPRVDDDSLGEFPVTNSRARKRILEPDDFLDDLDDEDYEEDTPKRR
GKGKSKGKGVGSARKKLDASILEDRDKPYACDICGKRYKNRPGLSYHYAHSHLAEEEGED
KEDSQPPTPVSQRSEEQKSKKGPDGLALPNNYCDFCLGDSKINKKTGQPEELVSCSDCGR
SGHPSCLQFTPVMMAAVKTYRWQCIECK
CCNICGTSENDDQLLFCDDCDRGYHMYCLTPS
MSEPPEGSWSCHLCLD
LLKEKASIYQNQNSS
Sequence length 391
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  ATP-dependent chromatin remodeling  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Coffin-siris syndrome Coffin-Siris syndrome, COFFIN-SIRIS SYNDROME 7 rs797045262, rs387906846, rs387906857, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs786205584, rs794727977, rs796052242, rs796052240, rs772995852, rs796052241, rs753933273, rs797045272, rs797045277, rs797045278, rs797045279, rs797045280, rs797045281, rs797045282, rs797045283, rs869312697, rs869312712, rs878854600, rs879253746, rs886040958, rs750447037, rs35441529, rs886041878, rs886041706, rs886044620, rs1057518045, rs1057517825, rs1057518951, rs1057519009, rs1057518984, rs1057518648, rs1057518691, rs1554294674, rs1064793482, rs1085307818, rs1085307695, rs1131691706, rs1131692263, rs1028186690, rs1553153771, rs1555155026, rs1554248236, rs1554265319, rs1554301230, rs1554231836, rs1554231845, rs1554234341, rs1554237269, rs1554265275, rs1554270809, rs1554294698, rs1404726383, rs758120346, rs1555031372, rs1554231278, rs1555155252, rs1555139310, rs1553152590, rs1554298232, rs1554238072, rs773740590, rs1554237992, rs1554237658, rs1554233122, rs1554236040, rs1554256703, rs201653711, rs1554238035, rs1554237785, rs1554232959, rs1555031500, rs1555032051, rs1555032044, rs1555032074, rs1555154946, rs1334099693, rs1555605795, rs1554265271, rs1562328526, rs1562331655, rs772973856, rs1554235834, rs1562347066, rs1562355401, rs377021700, rs1451259945, rs1562345819, rs1554294593, rs1562350940, rs1554231904, rs1565642121, rs1565903353, rs1206884190, rs1565903367, rs1565917836, rs1565896447, rs1562354784, rs1464282327, rs1582601669, rs1582601747, rs1583469292, rs1426841589, rs1582908829, rs1583280025, rs1583368813, rs1583513256, rs1583516082, rs1583438967, rs1554232919, rs1583280152, rs1583451360, rs1289067120, rs1583451146, rs1583502875, rs1554248082, rs1583491381, rs1583491515, rs1583518354, rs1592145571, rs754167205, rs1592118927, rs1592324196, rs1592121202, rs1592289150, rs1592294569, rs1592295890, rs1592295914, rs372368908, rs943407609, rs1417035592, rs1794276185, rs1554265316, rs1554232925 29429572
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591
Unknown
Disease name Disease term dbSNP ID References
Clinodactyly Clinodactyly of fingers, Clinodactyly
Congenital epicanthus Congenital Epicanthus
Cutis marmorata Cutis marmorata
Dandy-walker syndrome Dandy-Walker Syndrome

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