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Aliases for DEF8 Gene

Aliases for DEF8 Gene

  • Differentially Expressed In FDCP 8 Homolog 2 3 5
  • DEF-8 3 4
  • Differentially Expressed In FDCP 8 Homolog (Mouse) 2

External Ids for DEF8 Gene

Previous GeneCards Identifiers for DEF8 Gene

  • GC16P088543
  • GC16P090015
  • GC16P075708

Summaries for DEF8 Gene

GeneCards Summary for DEF8 Gene

DEF8 (Differentially Expressed In FDCP 8 Homolog) is a Protein Coding gene. An important paralog of this gene is MIR4315-1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEF8 Gene

Genomics for DEF8 Gene

Regulatory Elements for DEF8 Gene

Enhancers for DEF8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F089947 0.2 ENCODE 25.6 +0.9 893 2.4 HDGF PKNOX1 MLX ARID4B SIN3A ZNF48 ZNF2 ELK1 ZNF207 ZNF143 CDK10 DEF8 MC1R CENPBD1 FANCA ENSG00000261317
GH16F089971 0.6 ENCODE 21.2 +25.5 25539 4.8 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 URAHP DEF8 AFG3L1P ENSG00000259006 ENSG00000261692 RNU6-430P MC1R LOC101927863 TUBB3 CENPBD1
GH16F089956 1.4 FANTOM5 Ensembl ENCODE 21.1 +9.8 9847 2.7 ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF143 FOS DEF8 DBNDD1 CDK10 CENPBD1 GAS8-AS1 ENSG00000261317
GH16F089967 0.5 Ensembl 20.3 +19.6 19634 0.7 BCOR PAF1 POLR2A ZMYM3 DEF8 ENSG00000261317
GH16F090007 1 Ensembl ENCODE 20.1 +61.0 60976 2.2 KLF17 YBX1 ZNF2 RARA GLIS2 ZNF143 KLF7 EGR2 CBFB CEBPB DEF8 DBNDD1 URAHP TUBB3 CENPBD1 VPS9D1-AS1 GAS8 PIR44838
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DEF8 on UCSC Golden Path with GeneCards custom track

Promoters for DEF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000512425 975 1801 HDGF PKNOX1 MLX ARID4B SIN3A ZNF48 ZNF2 ELK1 ZNF207 ZNF143

Genomic Location for DEF8 Gene

Chromosome:
16
Start:
89,947,925 bp from pter
End:
89,968,060 bp from pter
Size:
20,136 bases
Orientation:
Plus strand

Genomic View for DEF8 Gene

Genes around DEF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEF8 Gene

Proteins for DEF8 Gene

  • Protein details for DEF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZN54-DEFI8_HUMAN
    Recommended name:
    Differentially expressed in FDCP 8 homolog
    Protein Accession:
    Q6ZN54
    Secondary Accessions:
    • B3KT65
    • B4DK62
    • B4E0S9
    • B7Z3H6
    • H3BUG7
    • Q8N8N3
    • Q9NXL0

    Protein attributes for DEF8 Gene

    Size:
    512 amino acids
    Molecular mass:
    58710 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04802.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAG64541.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for DEF8 Gene

neXtProt entry for DEF8 Gene

Post-translational modifications for DEF8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DEF8 Gene

Domains & Families for DEF8 Gene

Protein Domains for DEF8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEF8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZN54

UniProtKB/Swiss-Prot:

DEFI8_HUMAN :
  • Belongs to the DEF8 family.
  • Contains 2 phorbol-ester/DAG-type zinc fingers.
Family:
  • Belongs to the DEF8 family.
Similarity:
  • Contains 2 phorbol-ester/DAG-type zinc fingers.
genes like me logo Genes that share domains with DEF8: view

No data available for Gene Families for DEF8 Gene

Function for DEF8 Gene

Gene Ontology (GO) - Molecular Function for DEF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DEF8: view
genes like me logo Genes that share phenotypes with DEF8: view

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEF8 Gene

Localization for DEF8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEF8 Gene COMPARTMENTS Subcellular localization image for DEF8 gene
Compartment Confidence
cytosol 3
nucleus 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for DEF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with DEF8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DEF8 Gene

Pathways & Interactions for DEF8 Gene

SuperPathways for DEF8 Gene

No Data Available

Interacting Proteins for DEF8 Gene

Gene Ontology (GO) - Biological Process for DEF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with DEF8: view

No data available for Pathways by source and SIGNOR curated interactions for DEF8 Gene

Drugs & Compounds for DEF8 Gene

(4) Additional Compounds for DEF8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with DEF8: view

Transcripts for DEF8 Gene

Unigene Clusters for DEF8 Gene

Differentially expressed in FDCP 8 homolog (mouse):
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEF8 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c
SP1: - - - -
SP2:
SP3: - -
SP4: - - -
SP5:
SP6:

Relevant External Links for DEF8 Gene

GeneLoc Exon Structure for
DEF8
ECgene alternative splicing isoforms for
DEF8

Expression for DEF8 Gene

mRNA expression in normal human tissues for DEF8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEF8 Gene

This gene is overexpressed in Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for DEF8 Gene

This gene is overexpressed in Adrenal (36.4), Adipocyte (11.6), and Pancreas (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DEF8 Gene



NURSA nuclear receptor signaling pathways regulating expression of DEF8 Gene:

DEF8

SOURCE GeneReport for Unigene cluster for DEF8 Gene:

Hs.62771
genes like me logo Genes that share expression patterns with DEF8: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DEF8 Gene

Orthologs for DEF8 Gene

This gene was present in the common ancestor of animals.

Orthologs for DEF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEF8 35
  • 98 (a)
OneToOne
LOC100609720 34
  • 93.01 (n)
dog
(Canis familiaris)
Mammalia DEF8 34 35
  • 89.89 (n)
oppossum
(Monodelphis domestica)
Mammalia DEF8 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DEF8 34 35
  • 87.84 (n)
mouse
(Mus musculus)
Mammalia Def8 34 16 35
  • 87.7 (n)
rat
(Rattus norvegicus)
Mammalia Def8 34
  • 87.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 10 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DEF8 34 35
  • 84.28 (n)
lizard
(Anolis carolinensis)
Reptilia DEF8 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia def8 34
  • 73.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia def8-prov 34
zebrafish
(Danio rerio)
Actinopterygii CABZ01036951.1 35
  • 78 (a)
OneToOne
def8 34
  • 70.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005931 34
  • 50.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11534 34 35
  • 49.49 (n)
worm
(Caenorhabditis elegans)
Secernentea F20H11.1 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for DEF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)

Evolution for DEF8 Gene

ENSEMBL:
Gene Tree for DEF8 (if available)
TreeFam:
Gene Tree for DEF8 (if available)

Paralogs for DEF8 Gene

Paralogs for DEF8 Gene

Pseudogenes.org Pseudogenes for DEF8 Gene

genes like me logo Genes that share paralogs with DEF8: view

Variants for DEF8 Gene

Sequence variations from dbSNP and Humsavar for DEF8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs10573313 -- 89,968,442(+) TAGGC(-/TGGT)CTCAA downstream-variant-500B
rs111238159 -- 89,961,699(+) TTTTG(-/G)TGAGG intron-variant
rs111421479 -- 89,951,882(+) AAAGA(-/T)TTTTT intron-variant, utr-variant-5-prime
rs111569354 -- 89,959,688(+) GAGAC(A/G/T)GGGTT intron-variant
rs111571136 -- 89,955,799(+) CGGGC(A/G)CGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEF8 Gene

Variant ID Type Subtype PubMed ID
esv2762221 CNV gain+loss 21179565
esv3639603 CNV gain 21293372
esv3892941 CNV gain 25118596
nsv1066499 CNV loss 25217958
nsv428331 CNV gain+loss 18775914
nsv457626 CNV loss 19166990
nsv471119 CNV loss 18288195
nsv482951 CNV loss 15286789
nsv509640 CNV insertion 20534489
nsv573799 CNV gain 21841781
nsv573810 CNV loss 21841781
nsv573841 CNV loss 21841781
nsv573842 CNV loss 21841781

Variation tolerance for DEF8 Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEF8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEF8 Gene

Disorders for DEF8 Gene

Relevant External Links for DEF8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEF8

No disorders were found for DEF8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEF8 Gene

Publications for DEF8 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 4 64

Products for DEF8 Gene

Sources for DEF8 Gene