Aliases for SDHAF4 Gene
Aliases for SDHAF4 Gene
External Ids for SDHAF4 Gene
- HGNC: 20957
- Entrez Gene: 135154
- Ensembl: ENSG00000154079
- UniProtKB: Q5VUM1
Previous HGNC Symbols for SDHAF4 Gene
- C6orf57
Summaries for SDHAF4 Gene
GeneCards Summary for SDHAF4 Gene
SDHAF4 (Succinate Dehydrogenase Complex Assembly Factor 4) is a Protein Coding gene.
UniProtKB/Swiss-Prot for SDHAF4 Gene
-
Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:24954416). Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron-sulfur protein subunit SDHB into the SDH catalytic dimer (By similarity).
Additional gene information for SDHAF4 Gene
- Monarch Initiative
- Search for SDHAF4 at DataMed
- Search for SDHAF4 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHAF4 Gene
Genomics for SDHAF4 Gene
GeneHancer (GH) Regulatory Elements for SDHAF4 Gene
Promoters and enhancers for SDHAF4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SDHAF4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SDHAF4 Gene
Genomic Locations for SDHAF4 Gene
- chr6:70,566,917-70,589,569
- (GRCh38/hg38)
- Size:
- 22,653 bases
- Orientation:
- Plus strand
- chr6:71,276,620-71,299,272
- (GRCh37/hg19)
Genomic View for SDHAF4 Gene
Genes around SDHAF4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q13 by Ensembl
- 6q13 by Entrez Gene
- 6q13 by HGNC
SDHAF4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SDHAF4 Gene
Proteins for SDHAF4 Gene
-
Protein details for SDHAF4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5VUM1-SDHF4_HUMAN
- Recommended name:
- Succinate dehydrogenase assembly factor 4, mitochondrial
- Protein Accession:
- Q5VUM1
- E1P532
Protein attributes for SDHAF4 Gene
- Size:
- 108 amino acids
- Molecular mass:
- 12213 Da
- Quaternary structure:
-
- Interacts with SDHA in its FAD-bound form.
Protein Expression for SDHAF4 Gene
Post-translational modifications for SDHAF4 Gene
No Post-translational modifications
Other Protein References for SDHAF4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SDHAF4
- Invitrogen Antibodies for SDHAF4
- Search GeneTex for Antibodies for SDHAF4
Protein Products
-
OriGene Purified Proteins for SDHAF4
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- Search GeneTex for Proteins for SDHAF4
Assay Products
No data available for DME Specific Peptides for SDHAF4 Gene
Domains & Families for SDHAF4 Gene
Gene Families for SDHAF4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted secreted proteins
Protein Domains for SDHAF4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SDHAF4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q5VUM1- Family:
-
- Belongs to the SDHAF4 family.
Function for SDHAF4 Gene
Molecular function for SDHAF4 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:24954416). Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron-sulfur protein subunit SDHB into the SDH catalytic dimer (By similarity).
Phenotypes From GWAS Catalog for SDHAF4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0008177 | contributes_to succinate dehydrogenase (ubiquinone) activity | ISS,IEA | 24954416 |
Phenotypes for SDHAF4 Gene
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for SDHAF4 gene
-
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- Search ViGene Biosciences for SDHAF4
CRISPR Products
-
OriGene CRISPR knockouts for SDHAF4
- genomics-online: gRNA clones - Search results for 39 available C6ORF57 gene related products
- Overview of 39 available C6ORF57 gene related products
- Applied Biological Materials CRISPR for SDHAF4
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for SDHAF4
miRNA Products
- Search ViGene Biosciences for SDHAF4
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for SDHAF4
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- Overview of 39 available C6ORF57 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SDHAF4 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SDHAF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SDHAF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SDHAF4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SDHAF4
-
ViGene Biosciences adenoviral particle packaged cDNA for SDHAF4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SDHAF4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SDHAF4 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SDHAF4 Gene
Localization for SDHAF4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SDHAF4 Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
- Mitochondria (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005575 | cellular_component | ND | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) | ISS | 24954416 |
| GO:0005759 | mitochondrial matrix | IEA | -- |
Pathways & Interactions for SDHAF4 Gene
No Data Available
Interacting Proteins for SDHAF4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003407 | neural retina development | IGI | 24954416 |
| GO:0034553 | mitochondrial respiratory chain complex II assembly | IGI | 24954416 |
| GO:0045087 | innate immune response | IEA | -- |
| GO:0045333 | cellular respiration | IEA,IGI | 24954416 |
| GO:0097032 | mitochondrial respiratory chain complex II biogenesis | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SDHAF4 Gene
Transcripts for SDHAF4 Gene
mRNA/cDNA for SDHAF4 Gene
- (1) REFSEQ mRNAs :
- (42) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SDHAF4
- genomics-online: gRNA clones - Search results for 39 available C6ORF57 gene related products
- Overview of 39 available C6ORF57 gene related products
- Applied Biological Materials CRISPR for SDHAF4
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for SDHAF4
miRNA Products
- Search ViGene Biosciences for SDHAF4
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for SDHAF4
- Browse OriGene Inhibitory RNA Products For SDHAF4
- genomics-online: shRNA clones - Search results for 39 available C6ORF57 gene related products
- Overview of 39 available C6ORF57 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SDHAF4 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SDHAF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SDHAF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SDHAF4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: | - | ||||||||||
| SP3: | - | - |
Expression for SDHAF4 Gene
This gene is overexpressed in Nasal epithelium (60.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SDHAF4 Gene
NURSA nuclear receptor signaling pathways regulating expression of SDHAF4 Gene:
SDHAF4Primer Products
-
OriGene qPCR primer pairs for SDHAF4
- genomics-online: primer clones - Search results for 39 available C6ORF57 gene related products
- Overview of 39 available C6ORF57 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHAF4 Gene
Orthologs for SDHAF4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C6orf57 34 |
|
OneToOne | |
| C6H6orf57 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | C12H6orf57 33 |
|
||
| C6ORF57 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | C9H6orf57 33 |
|
||
| MGC137021 34 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | 1110058L19Rik 33 34 |
|
||
| Sdhaf4 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | LOC685888 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | C6orf57 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | C6orf57 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C6ORF57 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | c6orf57 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:busm1-265n4.4 33 |
|
||
| C13H6orf57 34 |
|
OneToOne | |||
| Dr.16925 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7224 34 |
|
OneToMany | |
| CG15283 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | W02D3.12 34 |
|
OneToOne |
- Species where no ortholog for SDHAF4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SDHAF4 Gene
No data available for Paralogs for SDHAF4 Gene
Variants for SDHAF4 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000112844 | -- | 70,585,667(+) | G/A | intron_variant | |
| rs1000187244 | -- | 70,585,208(+) | A/T | intron_variant | |
| rs1000422459 | -- | 70,573,512(+) | C/T | intron_variant | |
| rs1000455519 | -- | 70,573,180(+) | T/C | intron_variant | |
| rs1000649552 | -- | 70,589,385(+) | C/G | downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1027049 | CNV | gain | 25217958 |
| nsv524328 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.37;
81.67% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SDHAF4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SDHAF4
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHAF4 Gene
Disorders for SDHAF4 Gene
Additional Disease Information for SDHAF4
No disorders were found for SDHAF4 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SDHAF4 Gene
Publications for SDHAF4 Gene
- SDHAF4 promotes mitochondrial succinate dehydrogenase activity and prevents neurodegeneration. (PMID: 24954416) Van Vranken JG … Rutter J (Cell metabolism 2014) 2 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 58
Products for SDHAF4 Gene
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- Invitrogen Antibodies for SDHAF4
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- VectorBuilder custom plasmid, inducible vectors for SDHAF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SDHAF4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneTex for Antibodies for SDHAF4
- Search GeneTex for Proteins for SDHAF4
- ViGene Biosciences adenoviral particle packaged cDNA for SDHAF4 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SDHAF4 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SDHAF4 gene
- Search ViGene Biosciences for SDHAF4
- Horizon Cell Lines for SDHAF4
- genomics-online: cdna clones - Search results for 39 available C6ORF57 gene related products
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- Overview of 39 available C6ORF57 gene related products
- genomics-online: primer clones - Search results for 39 available C6ORF57 gene related products
- Overview of 39 available C6ORF57 gene related products
- genomics-online: shRNA clones - Search results for 39 available C6ORF57 gene related products
- Overview of 39 available C6ORF57 gene related products
Sources for SDHAF4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew