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 PLEKHM1.

UniProtKB/Swiss-Prot Summary for DEF8 Gene

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

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

Promoters and enhancers for DEF8 Gene
GeneHancer (GH) Identifier GH Type GH
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 275.5 +0.4 410 3 TBP MXD4 SMAD5 ZNF217 CTCF BHLHE40 ZBTB7B ELF1 HOMEZ THAP11 DEF8 HSALNG0113672 CDK10 MC1R ACSF3 ANKRD11 ZNF778 TCF25 ENSG00000268218 SNORD68
GH16J089946 Promoter 0.3 EPDnew 250.7 -2.4 -2408 0.1 DEF8 NONHSAG020377.2 TUBB3
GH16J090018 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 17.9 +72.2 72204 6.2 CHD2 TBP MXD4 FEZF1 CEBPA MNT BRCA1 SMAD5 MBD2 ZNF217 DBNDD1 GAS8 HSALNG0113681 ACSF3 AFG3L1P ENSG00000261118 DEF8 ANKRD11 PRDM7 ENSG00000268218
GH16J089970 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 21.2 +24.2 24240 5.9 CHD2 TBP MXD4 CEBPA SIX5 NR2C1 MNT BRCA1 SMAD5 ZFP64 AFG3L1P CENPBD1 HSALNG0113678 lnc-DEF8-2 piR-38545 ANKRD11 ENSG00000268218 TCF25 DEF8 MC1R
GH16J090008 Promoter/Enhancer 1 Ensembl ENCODE 19.2 +60.2 60202 0.9 ZBTB10 EBF1 MAX CBFB BHLHE40 POLR2A MYC RB1 IKZF1 GLIS1 lnc-CENPBD1-2 DEF8 DBNDD1 URAHP TUBB3 ENSG00000198211 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

Latest Assembly
19,364 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
19,306 bases
Plus strand

(GRCh37/hg19 by Ensembl)
20,136 bases
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:
    Recommended name:
    Differentially expressed in FDCP 8 homolog
    Protein Accession:
    Secondary Accessions:
    • B3KT65
    • B4DK62
    • B4E0S9
    • B7Z3H6
    • H3BUG7
    • Q8N8N3
    • Q9NXL0

    Protein attributes for DEF8 Gene

    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.
    • 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

Gene Families for DEF8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DEF8 Gene


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



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

Function for DEF8 Gene

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:0005515 protein binding IPI --
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

Inhibitory RNAs for research

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

Clone products for research

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2
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

mRNA/cDNA for DEF8 Gene

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

Inhibitory RNAs for research

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

Clone products for research

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: - - - -
SP3: - -
SP4: - - -

Relevant External Links for DEF8 Gene

GeneLoc Exon Structure for

Expression for DEF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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:


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

Primer products for research

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
(Pan troglodytes)
Mammalia DEF8 31
  • 98 (a)
LOC100609720 30
  • 93.01 (n)
(Canis familiaris)
Mammalia DEF8 30 31
  • 89.89 (n)
(Monodelphis domestica)
Mammalia DEF8 31
  • 89 (a)
(Bos Taurus)
Mammalia DEF8 30 31
  • 87.84 (n)
(Mus musculus)
Mammalia Def8 30 17 31
  • 87.7 (n)
(Rattus norvegicus)
Mammalia Def8 30
  • 87.14 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 10 (a)
(Gallus gallus)
Aves DEF8 30 31
  • 84.28 (n)
(Anolis carolinensis)
Reptilia DEF8 31
  • 80 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia def8 30
  • 73.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia def8-prov 30
(Danio rerio)
Actinopterygii CABZ01036951.1 31
  • 78 (a)
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)
(Caenorhabditis elegans)
Secernentea F20H11.1 31
  • 27 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
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

Gene Tree for DEF8 (if available)
Gene Tree for DEF8 (if available)
Evolutionary constrained regions (ECRs) for DEF8: view image

Paralogs for DEF8 Gene

Paralogs for DEF8 Gene Pseudogenes for DEF8 Gene

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

Variants for DEF8 Gene

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
rs144387770 Likely Benign: not provided 89,964,233(+) G/A
NM_001242818.2(DEF8):c.1066G>A (p.Val356Met)
rs146440314 Benign: not provided 89,949,498(+) C/T
rs149889201 Benign: not provided 89,957,654(+) G/A
NM_001242818.2(DEF8):c.366G>A (p.Glu122=)
rs7194844 Benign: not provided. - 89,954,337(+) C/Gp.Gln90Glu
NM_001242818.2(DEF8):c.85C>G (p.Gln29Glu)
rs77908930 Benign: not provided 89,963,395(+) G/A
NM_001242818.2(DEF8):c.954G>A (p.Pro318=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEF8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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: COP

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

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. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for DEF8 Gene

Sources for DEF8 Gene