• Gene id: 8110

Gene Summary

• Gene Symbol: DPF3   Gene   UCSC   Ensembl
• Aliases: BAF45C, CERD4
• Gene name: double PHD fingers 3
• Alternate names: zinc finger protein DPF3, BRG1-associated factor 45C, D4, zinc and double PHD fingers, family 3, zinc finger protein cer-d4,
• Gene location: 14q24.2 (72894115: 72609031)     Exons: 19     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants enc
• OMIM: 601672

SNPs

rs10129954

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.72683993C>T
NC_000014.8   g.73150701C>T|SEQ=[C/T]|GENE=DPF3

Protein Summary

• Protein general information: Q92784  
  • Name: Zinc finger protein DPF3 (BRG1 associated factor 45C) (BAF45C) (Zinc finger protein cer d4)
  • Length: 378  
  • Mass: 43,084
• Sequence:

  MATVIHNPLKALGDQFYKEAIEHCRSYNSRLCAERSVRLPFLDSQTGVAQNNCYIWMEKRHRGPGLAPGQLYTYP
  ARCWRKKRRLHPPEDPKLRLLEIKPEVELPLKKDGFTSESTTLEALLRGEGVEKKVDAREEESIQEIQRVLENDE
  NVEEGNEEEDLEEDIPKRKNRTRGRARGSAGGRRRHDAASQEDHDKPYVCDICGKRYKNRPGLSYHYAHTHLASE
  EGDEAQDQETRSPPNHRNENHRPQKGPDGTVIPNNYCDFCLGGSNMNKKSGRPEELVSCADCGRSGHPTCLQFTL
  NMTEAVKTYKWQCIECKSCILCGTSENDDQLLFCDDCDRGYHMYCLNPPVAEPPEGSWSCHLCWELLKEKASAFG
  CQA

• Structural information:
  • Interpro: IPR038047  IPR025750  IPR036236  IPR013087  IPR011011   IPR001965  IPR019787  IPR013083  
  • Prosite: PS01359 PS50016 PS00028 PS50157
  • PDB: 2KWJ 2KWK 2KWN 2KWO 5I3L 5SZB 5SZC
  • PDBsum: 2KWJ 2KWK 2KWN 2KWO 5I3L 5SZB 5SZC
  • DIP: 59245
  • STRING: ENSP00000370614
• Other Databases: GeneCards:  DPF3  Malacards:  DPF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002230	positive regulation of defense response to virus by host	IMP	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0071565	nBAF complex	ISS	cellular component
GO:0098779	mitophagy in response to mitochondrial depolarization	IGI	biological process
GO:0098792	xenophagy	IMP	biological process
GO:0002230	positive regulation of defense response to virus by host	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0071565	nBAF complex	ISS	cellular component
GO:0098779	mitophagy in response to mitochondrial depolarization	IGI	biological process
GO:0098792	xenophagy	IMP	biological process
GO:0002230	positive regulation of defense response to virus by host	IMP	biological process
GO:0008150	biological_process	ND	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0071565	nBAF complex	ISS	cellular component
GO:0098779	mitophagy in response to mitochondrial depolarization	IGI	biological process
GO:0098792	xenophagy	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Cancer (breast)	GAD: 16109180
Cleft defects	GAD: 18978678
Cleft defects	GAD: 18978678
Poor sperm morphology	MIK: 24271036
Poor sperm morphology	MIK: 24271036
Male factor infertility	MIK: 24271036
Azoospermia	MIK: 28975488
Oligozoospermia	MIK: 28975488
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 27232852
Spermatogenic defects	MIK: 24271036

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24271036	Poor sperm morphology	DSCAML1 (rs680730), DPF3 (rs10129954)		167 (126 ethnically diverse men, 41 independent loci, previously shown to be predictors of family size and birth rate in healthy men)	Male infertility
28975488	Azoospermia, Oligozoospermia, Male infertility	rs12376894, rs10966811, rs12348		145 (83 patients with azoospermia and 62 with oligozoospermia), 713 fertile patients	Male infertility
27232852	Idiopathic male infertility	rs10129954 in DPF3	Chinese Han	592 (456 healthy fertile men, 136 subfertile men)	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq