Aliases for DBNL Gene

Aliases for DBNL Gene

  • Drebrin Like 2 3 5
  • HPK1-Interacting Protein Of 55 KDa 2 3 4
  • HIP-55 2 3 4
  • SH3P7 2 3 4
  • Cervical Mucin-Associated Protein 3 4
  • SH3 Domain-Containing Protein 7 3 4
  • Actin-Binding Protein 1 2 3
  • Drebrin-Like Protein 3 4
  • Cervical SH3P7 3 4
  • Drebrin-F 3 4
  • ABP1 2 3
  • Src Homology 3 Domain-Containing Protein HIP-55 3
  • Drebrin-Like 2
  • HIP55 3
  • DBNL 5
  • CMAP 4

External Ids for DBNL Gene

Previous GeneCards Identifiers for DBNL Gene

  • GC07U990153
  • GC07P043857
  • GC07P044050
  • GC07P044084
  • GC07P043969

Summaries for DBNL Gene

GeneCards Summary for DBNL Gene

DBNL (Drebrin Like) is a Protein Coding gene. Diseases associated with DBNL include Cardiomyopathy, Dilated, 1P and Glycogen Storage Disease. Among its related pathways are JNK signaling in the CD4+ TCR pathway and Apoptotic execution phase. Gene Ontology (GO) annotations related to this gene include actin binding and protein C-terminus binding. An important paralog of this gene is DBN1.

UniProtKB/Swiss-Prot Summary for DBNL Gene

  • Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G-actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological synapse that regulates T-cell activation by bridging TCRs and the actin cytoskeleton to gene activation and endocytic processes.

Gene Wiki entry for DBNL Gene

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

Genomics for DBNL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DBNL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the DBNL gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • CUTL1
  • HTF
  • Pax-5

Genomic Locations for DBNL Gene

Genomic Locations for DBNL Gene
chr7:44,044,640-44,069,456
(GRCh38/hg38)
Size:
24,817 bases
Orientation:
Plus strand
chr7:44,084,239-44,109,055
(GRCh37/hg19)
Size:
24,817 bases
Orientation:
Plus strand

Genomic View for DBNL Gene

Genes around DBNL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DBNL Gene

Proteins for DBNL Gene

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

    Protein Symbol:
    Q9UJU6-DBNL_HUMAN
    Recommended name:
    Drebrin-like protein
    Protein Accession:
    Q9UJU6
    Secondary Accessions:
    • A4D2I9
    • B4DDP6
    • B4DEM2
    • C9J7P1
    • P84070
    • Q6IAI8
    • Q96F30
    • Q96K74
    • Q9HBN8
    • Q9NR72

    Protein attributes for DBNL Gene

    Size:
    430 amino acids
    Molecular mass:
    48207 Da
    Quaternary structure:
    • Interacts with SHANK2, SHANK3 and SYN1. Interacts with FGD1 and DNM1. Interacts with ANKRD54. Interacts with COBL. Interacts with WASL and WIPF1 (By similarity). Interacts with MAP4K1 and PRAM1.

    Three dimensional structures from OCA and Proteopedia for DBNL Gene

    Alternative splice isoforms for DBNL Gene

neXtProt entry for DBNL Gene

Post-translational modifications for DBNL Gene

No data available for DME Specific Peptides for DBNL Gene

Domains & Families for DBNL Gene

Gene Families for DBNL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DBNL Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Actin-binding, cofilin/tropomyosin type
ProtoNet:

Suggested Antigen Peptide Sequences for DBNL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59450, highly similar to Drebrin-like protein (B4DDD6_HUMAN)
  • cDNA FLJ52531, highly similar to Drebrin-like protein (B4DDP6_HUMAN)
  • cDNA FLJ54066, highly similar to Drebrin-like protein (B4DDU5_HUMAN)
  • cDNA FLJ59481, highly similar to Drebrin-like protein (B4DEM2_HUMAN)
  • SH3 domain-containing protein 7 (DBNL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJU6

UniProtKB/Swiss-Prot:

DBNL_HUMAN :
  • The SH3 domain mediates interaction with SHANK2, SHANK3 and PRAM1.
  • Belongs to the ABP1 family.
Domain:
  • The SH3 domain mediates interaction with SHANK2, SHANK3 and PRAM1.
Family:
  • Belongs to the ABP1 family.
genes like me logo Genes that share domains with DBNL: view

Function for DBNL Gene

Molecular function for DBNL Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G-actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological synapse that regulates T-cell activation by bridging TCRs and the actin cytoskeleton to gene activation and endocytic processes.
GENATLAS Biochemistry:
drebrin (actin-binding protein)-like

Phenotypes From GWAS Catalog for DBNL Gene

Gene Ontology (GO) - Molecular Function for DBNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005515 protein binding IPI 16189514
GO:0008022 protein C-terminus binding IEA --
GO:0008047 enzyme activator activity TAS 10567356
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with DBNL: view
genes like me logo Genes that share phenotypes with DBNL: view

Animal Models for DBNL Gene

MGI Knock Outs for DBNL:
  • Dbnl Dbnl<tm1Jwnd>
  • Dbnl Dbnl<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

Localization for DBNL Gene

Subcellular locations from UniProtKB/Swiss-Prot for DBNL Gene

Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle. Cytoplasm, cell cortex. Cytoplasm, cytosol. Cell junction, synapse. Perikaryon. Cell projection, neuron projection. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Golgi apparatus membrane. Peripheral membrane protein. Cytoplasmic side. Cell projection, podosome. Early endosome. Cell projection, dendrite. Cell junction, synapse, postsynaptic density. Note=Associates with lamellipodial actin and membrane ruffles. Colocalizes with actin and cortactin at podosome dots and podosome rosettes. {ECO:0000250 UniProtKB:Q62418, ECO:0000250 UniProtKB:Q9JHL4}.

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 DBNL gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
cytoskeleton 4
nucleus 3
endosome 3
golgi apparatus 3
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DBNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0001726 ruffle ISS --
GO:0002102 podosome ISS --
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with DBNL: view

Pathways & Interactions for DBNL Gene

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

SIGNOR curated interactions for DBNL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DBNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0007257 activation of JUN kinase activity TAS 10567356
genes like me logo Genes that share ontologies with DBNL: view

Drugs & Compounds for DBNL Gene

No Compound Related Data Available

Transcripts for DBNL Gene

mRNA/cDNA for DBNL Gene

6 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
22 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 DBNL

Clone Products

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - -
SP5: - - - - -
SP6: - - - -
SP7:
SP8: - - - - -
SP9: - - -
SP10: -
SP11: - -

ExUns: 13c · 13d · 13e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DBNL Gene

GeneLoc Exon Structure for
DBNL

Expression for DBNL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x7.0).

Protein differential expression in normal tissues from HIPED for DBNL Gene

This gene is overexpressed in Lymph node (10.2), Peripheral blood mononuclear cells (10.2), and Bone marrow stromal cell (6.5).

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



Protein tissue co-expression partners for DBNL Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for DBNL Gene:

Hs.436500

Evidence on tissue expression from TISSUES for DBNL Gene

  • Nervous system(5)
  • Blood(4.8)
  • Liver(4.4)
  • Eye(4.3)
  • Lung(3.8)
  • Spleen(3.7)
  • Skin(3.6)
  • Intestine(3.5)
  • Kidney(3.4)
  • Lymph node(2.7)
  • Muscle(2.2)
  • Bone marrow(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with DBNL: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DBNL Gene

Orthologs for DBNL Gene

This gene was present in the common ancestor of animals.

Orthologs for DBNL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DBNL 30 31
  • 99.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DBNL 30 31
  • 88.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 87 (a)
OneToMany
DBNL 30
  • 85.3 (n)
-- 31
  • 62 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Dbnl 30
  • 84.49 (n)
Mouse
(Mus musculus)
Mammalia Dbnl 30 17 31
  • 84.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DBNL 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DBNL 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DBNL 30 31
  • 73.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DBNL 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dbnl 30
  • 66.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii dbnlb 30 31
  • 67.15 (n)
OneToMany
dbnla 31
  • 47 (a)
OneToMany
wufb34f02 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10083 30 31
  • 58.24 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012240 30
  • 49.45 (n)
Worm
(Caenorhabditis elegans)
Secernentea K08E3.4 30 31
  • 49.89 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3471 31
  • 35 (a)
OneToMany
Species where no ortholog for DBNL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 DBNL Gene

ENSEMBL:
Gene Tree for DBNL (if available)
TreeFam:
Gene Tree for DBNL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DBNL: view image

Paralogs for DBNL Gene

Paralogs for DBNL Gene

(6) SIMAP similar genes for DBNL Gene using alignment to 15 proteins:

  • DBNL_HUMAN
  • B4DDD6_HUMAN
  • B4DDP6_HUMAN
  • B4DEM2_HUMAN
  • C9J7P1_HUMAN
  • F2Z2V3_HUMAN
  • F2Z3E3_HUMAN
  • F8WB73_HUMAN
  • F8WBB2_HUMAN
  • F8WBG8_HUMAN
  • F8WC20_HUMAN
  • F8WCK3_HUMAN
  • F8WFE1_HUMAN
  • H0Y5J4_HUMAN
  • H7C111_HUMAN
genes like me logo Genes that share paralogs with DBNL: view

Variants for DBNL Gene

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

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
663111 Uncertain Significance: Glycogen storage disease type X 44,065,156(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
665136 Uncertain Significance: Glycogen storage disease type X 44,062,915(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
676772 Likely Benign: not provided 44,065,693(+) G/A THREE_PRIME_UTR_VARIANT
786783 Likely Benign: Glycogen storage disease type X 44,062,890(+) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
847748 Uncertain Significance: Glycogen storage disease type X 44,065,387(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for DBNL Gene

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

Variant ID Type Subtype PubMed ID
nsv428165 CNV gain 18775914
nsv470210 CNV loss 18288195
nsv8082 CNV gain 18304495
nsv830980 CNV loss 17160897
nsv966788 CNV duplication 23825009

Variation tolerance for DBNL Gene

Residual Variation Intolerance Score: 66.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DBNL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DBNL Gene

MalaCards: The human disease database

(2) MalaCards diseases for DBNL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1p
  • cmd1p
glycogen storage disease
  • gsd
- elite association - COSMIC cancer census association via MalaCards
Search DBNL in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with DBNL: view

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

Publications for DBNL Gene

  1. Recruitment of the actin-binding protein HIP-55 to the immunological synapse regulates T cell receptor signaling and endocytosis. (PMID: 14729663) Le Bras S … Deckert M (The Journal of biological chemistry 2004) 3 4 23
  2. Caspase-mediated cleavage of actin-binding and SH3-domain-containing proteins cortactin, HS1, and HIP-55 during apoptosis. (PMID: 11689006) Chen YR … Tan TH (Biochemical and biophysical research communications 2001) 3 4 23
  3. NMR solution structures of actin depolymerizing factor homology domains. (PMID: 19768801) Goroncy AK … Yokoyama S (Protein science : a publication of the Protein Society 2009) 4 23
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for DBNL Gene

Sources for DBNL Gene