DEF8 Gene (Protein Coding)

Differentially Expressed In FDCP 8 Homolog

GC16P089947
GIFtS:
34
See more...

Aliases for DEF8 Gene

Aliases for DEF8 Gene

  • Differentially Expressed In FDCP 8 Homolog 2 3 4 5
  • DEF-8 3 4
  • Differentially Expressed In FDCP 8 Homolog (Mouse) 2
  • FLJ20186 2
  • DEF8 5

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. Diseases associated with DEF8 include Photoallergic Dermatitis and Fanconi Anemia, Complementation Group A. An important paralog of this gene is RUBCN.

UniProtKB/Swiss-Prot Summary for DEF8 Gene

  • Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption.

Additional gene information for DEF8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEF8 Gene

Genomics for DEF8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DEF8 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J089947 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 625.5 +1.2 1182 3 GATAD2A CTCF ZNF692 RCOR2 BACH1 JUND FOXA1 LARP7 ZNF143 RBFOX2 DEF8 CDK10 MC1R ACSF3 ANKRD11 ZNF778 TCF25 ENSG00000268218 SNORD68 ENSG00000261118
GH16J089946 Promoter 0.3 EPDnew 600.7 -1.6 -1636 0.1 DEF8 NONHSAG020377.2 TUBB3
GH16J090018 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 17.9 +73.0 72976 6.2 BRCA1 RNF2 ARHGAP35 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 DBNDD1 GAS8 ACSF3 AFG3L1P ENSG00000261118 DEF8 ANKRD11 PRDM7 ENSG00000268218 MC1R
GH16J089970 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 21.2 +25.0 25012 5.9 BRCA1 CREB1 ZNF629 TFE3 SIX5 NFKBIZ ZNF692 POLR2A BACH1 LARP7 AFG3L1P CENPBD1 lnc-DEF8-2 piR-38545 ANKRD11 ENSG00000268218 TCF25 DEF8 MC1R ENSG00000259877
GH16J090008 Promoter/Enhancer 1 Ensembl ENCODE 19.2 +61.0 61002 0.9 DPF2 ZBTB10 RUNX3 GATAD2B CBFB TCF12 ZFHX2 IKZF1 EBF1 RB1 lnc-CENPBD1-2 DEF8 DBNDD1 URAHP ENSG00000198211 TUBB3 VPS9D1-AS1 GAS8 lnc-DBNDD1-1 CENPBD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEF8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEF8

Top Transcription factor binding sites by QIAGEN in the DEF8 gene promoter:
  • C/EBPalpha
  • CREB
  • E47
  • Elk-1
  • Evi-1
  • Tal-1beta

Genomic Locations for DEF8 Gene

Genomic Locations for DEF8 Gene
chr16:89,947,925-89,968,060
(GRCh38/hg38)
Size:
20,136 bases
Orientation:
Plus strand
chr16:90,014,333-90,034,468
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for DEF8 Gene

Proteins for DEF8 Gene

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  • 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:
    • Interacts (via C-terminus) with PLEKHM1; this interaction is weak but increased in a RAB7A-dependent manner.
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for DEF8 Gene

Protein Expression for DEF8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DEF8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEF8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEF8 Gene

Domains & Families for DEF8 Gene

Gene Families for DEF8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DEF8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEF8 Gene

GenScript: Design optimal peptide antigens:
  • Differentially expressed in FDCP 8 homolog (DEFI8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZN54

UniProtKB/Swiss-Prot:

DEFI8_HUMAN :
  • Belongs to the DEF8 family.
Family:
  • Belongs to the DEF8 family.
genes like me logo Genes that share domains with DEF8: view

Function for DEF8 Gene

Products:

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  2. CRISPR
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  4. Inhibitory RNA
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Molecular function for DEF8 Gene

UniProtKB/Swiss-Prot Function:
Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption.

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEF8

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEF8 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1
mitochondrion 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DEF8 Gene

Pathways & Interactions for DEF8 Gene

PathCards logo

SuperPathways for DEF8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DEF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032418 lysosome localization ISS --
GO:0035556 intracellular signal transduction IEA --
GO:0045780 positive regulation of bone resorption ISS --
GO:1900029 positive regulation of ruffle assembly ISS --
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

Products:

  1. Drug

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with DEF8: view

Transcripts for DEF8 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DEF8 Gene

9 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEF8

Clone 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

Expression for DEF8 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEF8 Gene

mRNA expression in normal human tissues for DEF8 Gene
mRNA expression by BioGPS for DEF8 GenemRNA expression by GTEx 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEF8

SOURCE GeneReport for Unigene cluster for DEF8 Gene:

Hs.62771

Evidence on tissue expression from TISSUES for DEF8 Gene

  • Nervous system(5)
  • Skin(4.4)
  • Intestine(4.3)
  • Pancreas(4.2)
  • Liver(2.7)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with DEF8: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31
  • 98 (a)
 OneToOne
LOC100609720 30
  • 93.01 (n)
Dog
(Canis familiaris)
 Mammalia DEF8 30 31
  • 89.89 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DEF8 31
  • 89 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DEF8 30 31
  • 87.84 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Def8 30 17 31
  • 87.7 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Def8 30
  • 87.14 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 10 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves DEF8 30 31
  • 84.28 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DEF8 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia def8 30
  • 73.01 (n)
African clawed frog
(Xenopus laevis)
 Amphibia def8-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii CABZ01036951.1 31
  • 78 (a)
 OneToOne
def8 30
  • 70.57 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005931 30
  • 50.79 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG11534 30 31
  • 49.49 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea F20H11.1 31
  • 27 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 52 (a)
 OneToOne
Species where no ortholog for DEF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DEF8: view image

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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEF8 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
717054 Benign: not provided 89,963,395(+) G/A SYNONYMOUS_VARIANT
729694 Likely Benign: not provided 89,964,233(+) G/A MISSENSE_VARIANT
755844 Benign: not provided 89,949,498(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
768807 Benign: not provided 89,954,337(+) C/G MISSENSE_VARIANT,INTRON_VARIANT
773059 Benign: not provided 89,957,654(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DEF8 Gene

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)

Additional Variant Information for DEF8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DEF8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEF8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
photoallergic dermatitis
  • photoallergic contact dermatitis
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
Search DEF8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEF8

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DEF8: view

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

Publications for DEF8 Gene

  1. PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis. (PMID: 27777970) Fujiwara T … Zhao H (JCI insight 2016) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

ExternalLinks

View latest publications for DEF8 gene in Mastermind

Products for DEF8 Gene

  • Signalway Proteins for DEF8

Sources for DEF8 Gene