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Aliases for DLK1 Gene

Aliases for DLK1 Gene

  • Delta Like Non-Canonical Notch Ligand 1 2 3 5
  • DLK-1 3 4
  • DLK 3 4
  • PG2 3 4
  • Delta-Like 1 Homolog (Drosophila) 2
  • Delta-Like Homolog (Drosophila) 2
  • Protein Delta Homolog 1 3
  • Preadipocyte Factor 1 3
  • Delta-Like 1 Homolog 3
  • Fetal Antigen 1 3
  • Secredeltin 3
  • Delta1 3
  • Pref-1 3
  • PREF1 3
  • FA1 3
  • ZOG 3

External Ids for DLK1 Gene

Previous GeneCards Identifiers for DLK1 Gene

  • GC14P098584
  • GC14P095008
  • GC14P099183
  • GC14P100263
  • GC14P101193
  • GC14P081373
  • GC14P101197
  • GC14P101211
  • GC14P101793
  • GC14P102086
  • GC14P102320

Summaries for DLK1 Gene

Entrez Gene Summary for DLK1 Gene

  • This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]

GeneCards Summary for DLK1 Gene

DLK1 (Delta Like Non-Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with DLK1 include Paternal 14Q32.2 Microdeletion Syndrome and Maternal 14Q32.2 Microdeletion Syndrome. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and P38 MAPK Signaling Pathway (sino). GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DLK2.

UniProtKB/Swiss-Prot for DLK1 Gene

  • May have a role in neuroendocrine differentiation.

Gene Wiki entry for DLK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLK1 Gene

Genomics for DLK1 Gene

Regulatory Elements for DLK1 Gene

Enhancers for DLK1 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
GH14F100657 1.3 Ensembl ENCODE 17.6 -61.2 -61195 13.4 ARID4B DMAP1 ZNF48 ZNF2 GATA2 ZNF143 FOS SP5 NCOA1 REST DLK1 WARS WDR25 BEGAIN MIR127 MIR431 MIR433 MIR493 MIR337 MIR136
GH14F100819 1 FANTOM5 ENCODE 16.8 +100.8 100831 13.4 PKNOX1 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 CBX5 DLK1 MEG3 MIR493 MIR337 MIR431 MIR127 MIR136 MIR433 RTL1 SNORD112
GH14F100683 0.8 FANTOM5 Ensembl 13.1 -41.2 -41224 1.8 GATAD2A PKNOX1 KLF1 TEAD1 ZNF384 CEBPG MNT TEAD3 ZFHX2 CEBPA DLK1 RTL1 LOC105370668 LOC105370669
GH14F100691 1 FANTOM5 Ensembl ENCODE 11.8 -32.2 -32223 4.2 ELF3 TBP MLX INSM2 KLF17 NFXL1 ZNF48 RAD21 DNMT3B RARA DLK1 MIR493 MIR337 MIR136 RTL1 MIR127 MIR431 MIR433 LINC00523 LOC105370668
GH14F100688 1.2 Ensembl ENCODE 11.8 -36.8 -36780 1.4 GATAD2A ELF3 KLF1 ZIC2 RARA ZFHX2 JUND ZNF366 SCRT2 SMAD4 DLK1 MIR493 MIR127 MIR431 MIR433 MIR337 MIR136 RTL1 LOC105370668 LOC105370669
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DLK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLK1 Gene

100,725,705 bp from pter
100,738,224 bp from pter
12,520 bases
Plus strand

Genomic View for DLK1 Gene

Genes around DLK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLK1 Gene

Proteins for DLK1 Gene

  • Protein details for DLK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein delta homolog 1
    Protein Accession:
    Secondary Accessions:
    • P15803
    • Q96DW5

    Protein attributes for DLK1 Gene

    383 amino acids
    Molecular mass:
    41300 Da
    Quaternary structure:
    • Monomer.
    • Sequence=CAA35582.1; Type=Frameshift; Positions=22, 108, 199; Evidence={ECO:0000305};

    Alternative splice isoforms for DLK1 Gene


neXtProt entry for DLK1 Gene

Post-translational modifications for DLK1 Gene

  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Ser 94, Asn 100, Thr 143, Ser 163, Asn 165, Asn 172, Ser 214, Thr 222, Ser 251, Thr 256, Ser 260, and Thr 269
  • Modification sites at PhosphoSitePlus

Other Protein References for DLK1 Gene

Antibody Products

  • R&D Systems Antibodies for DLK1 (Pref-1/DLK1/FA1)
  • Cell Signaling Technology (CST) Antibodies for DLK1 (DLK1)

No data available for DME Specific Peptides for DLK1 Gene

Domains & Families for DLK1 Gene

Suggested Antigen Peptide Sequences for DLK1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 6 EGF-like domains.
  • Contains 6 EGF-like domains.
genes like me logo Genes that share domains with DLK1: view

No data available for Gene Families for DLK1 Gene

Function for DLK1 Gene

Molecular function for DLK1 Gene

GENATLAS Biochemistry:
delta (Drosophila)-like 1,member of the EGF-like homeotic family,involved in cell differentiation in a justacrine/paracrine manner and in the pathogenesis of NF1,participating in the control of cell differentiation of several cell type,including small cell lung cancer lines,immune stem cells,B cells and adrenal glumerulose cells
UniProtKB/Swiss-Prot Function:
May have a role in neuroendocrine differentiation.

Gene Ontology (GO) - Molecular Function for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with DLK1: view
genes like me logo Genes that share phenotypes with DLK1: view

Animal Models for DLK1 Gene

MGI Knock Outs for DLK1:

Animal Model Products

miRNA for DLK1 Gene

miRTarBase miRNAs that target DLK1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLK1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLK1 Gene

Localization for DLK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLK1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for DLK1 Gene COMPARTMENTS Subcellular localization image for DLK1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 7925474
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with DLK1: view

Pathways & Interactions for DLK1 Gene

genes like me logo Genes that share pathways with DLK1: view

Pathways by source for DLK1 Gene

SIGNOR curated interactions for DLK1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0045746 negative regulation of Notch signaling pathway IDA 25093684
genes like me logo Genes that share ontologies with DLK1: view

Drugs & Compounds for DLK1 Gene

(5) Drugs for DLK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for DLK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DLK1: view

Transcripts for DLK1 Gene

Unigene Clusters for DLK1 Gene

Delta-like 1 homolog (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLK1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLK1 Gene

No ASD Table

Relevant External Links for DLK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DLK1 Gene

mRNA expression in normal human tissues for DLK1 Gene

mRNA differential expression in normal tissues according to GTEx for DLK1 Gene

This gene is overexpressed in Adrenal Gland (x27.7), Pituitary (x17.2), and Ovary (x4.8).

Protein differential expression in normal tissues from HIPED for DLK1 Gene

This gene is overexpressed in Fetal Brain (24.4), Urine (22.5), and Fetal ovary (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DLK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DLK1 Gene:


SOURCE GeneReport for Unigene cluster for DLK1 Gene:


mRNA Expression by UniProt/SwissProt for DLK1 Gene:

Tissue specificity: Found within the stromal cells in close contact to the vascular structure of placental villi, yolk sac, fetal liver, adrenal cortex and pancreas and in the beta cells of the islets of Langerhans in the adult pancreas. Found also in some forms of neuroendocrine lung tumor tissue.
genes like me logo Genes that share expression patterns with DLK1: view

Primer Products

No data available for Protein tissue co-expression partners for DLK1 Gene

Orthologs for DLK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLK1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DLK1 34 35
  • 99.22 (n)
(Canis familiaris)
Mammalia DLK1 34 35
  • 90.1 (n)
(Mus musculus)
Mammalia Dlk1 34 16 35
  • 87.03 (n)
(Rattus norvegicus)
Mammalia Dlk1 34
  • 87.03 (n)
(Bos Taurus)
Mammalia DLK 35
  • 83 (a)
(Monodelphis domestica)
Mammalia DLK1 35
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia DLK1 35
  • 50 (a)
(Gallus gallus)
Aves DLK1 34 35
  • 58.57 (n)
(Anolis carolinensis)
Reptilia DLK1 35
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dlk1 34
  • 54.85 (n)
(Danio rerio)
Actinopterygii LOC101883341 34
  • 55.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta wry 35
  • 7 (a)
Species where no ortholog for DLK1 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)
  • worm (Caenorhabditis elegans)

Evolution for DLK1 Gene

Gene Tree for DLK1 (if available)
Gene Tree for DLK1 (if available)

Paralogs for DLK1 Gene

Paralogs for DLK1 Gene

genes like me logo Genes that share paralogs with DLK1: view

Variants for DLK1 Gene

Sequence variations from dbSNP and Humsavar for DLK1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs10132598 -- 100,733,196(+) TTTCT(C/T)GCGAA intron-variant
rs10136874 -- 100,735,685(+) ACGAA(G/T)TCTCA utr-variant-3-prime
rs10139403 -- 100,728,224(+) AGTGC(A/G)CTGAG intron-variant
rs10151914 -- 100,728,607(+) CGAGC(G/T)GGGGA intron-variant
rs1058006 -- 100,732,102(+) GGACG(A/G)TGGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DLK1 Gene

Variant ID Type Subtype PubMed ID
esv2751158 CNV gain 17911159
esv3635516 CNV gain 21293372
nsv1425 CNV insertion 18451855
nsv456428 CNV loss 19166990
nsv470668 CNV loss 18288195
nsv483116 CNV gain 15286789
nsv521690 CNV loss 19592680
nsv525723 CNV loss 19592680
nsv565787 CNV loss 21841781
nsv565858 CNV loss 21841781
nsv832876 CNV loss 17160897

Variation tolerance for DLK1 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLK1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLK1 Gene

Disorders for DLK1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for DLK1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paternal 14q32.2 microdeletion syndrome
  • paternal del(14)(q32.2)
maternal 14q32.2 microdeletion syndrome
  • maternal del(14)(q32.2)
maternal 14q32.2 hypermethylation syndrome
paternal 14q32.2 hypomethylation syndrome
kagami-ogata syndrome
  • uniparental disomy, paternal, chromosome 14
- elite association - COSMIC cancer census association via MalaCards
Search DLK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLK1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DLK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLK1 Gene

Publications for DLK1 Gene

  1. Protein structure of fetal antigen 1 (FA1). A novel circulating human epidermal-growth-factor-like protein expressed in neuroendocrine tumors and its relation to the gene products of dlk and pG2. (PMID: 7925474) Jensen C.H. … Teisner B. (Eur. J. Biochem. 1994) 2 3 4 22 64
  2. dlk, pG2 and Pref-1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA. (PMID: 7711066) Lee Y.L. … Laborda J. (Biochim. Biophys. Acta 1995) 3 4 22 64
  3. dlk, a putative mammalian homeotic gene differentially expressed in small cell lung carcinoma and neuroendocrine tumor cell line. (PMID: 8095043) Laborda J. … Notario V. (J. Biol. Chem. 1993) 2 3 4 64
  4. Studies on the isolation, structural analysis and tissue localization of fetal antigen 1 and its relation to a human adrenal-specific cDNA, pG2. (PMID: 8501199) Jensen C.H. … Skjoedt K. (Hum. Reprod. 1993) 3 4 22 64
  5. An upstream insulator regulates DLK1 imprinting in AML. (PMID: 20089961) Khoury H. … Minden M.D. (Blood 2010) 3 22 64

Products for DLK1 Gene

Sources for DLK1 Gene

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