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Aliases for DNMBP Gene

Aliases for DNMBP Gene

  • Dynamin Binding Protein 2 3 5
  • Scaffold Protein TUBA 2 3 4
  • Dynamin-Binding Protein 3
  • ARHGEF36 3
  • KIAA1010 4
  • TUBA 3

External Ids for DNMBP Gene

Previous GeneCards Identifiers for DNMBP Gene

  • GC10M101301
  • GC10M101625
  • GC10M095263

Summaries for DNMBP Gene

Entrez Gene Summary for DNMBP Gene

  • This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for DNMBP Gene

DNMBP (Dynamin Binding Protein) is a Protein Coding gene. Diseases associated with DNMBP include Alzheimer Disease. Among its related pathways are Regulation of CDC42 activity. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF38.

UniProtKB/Swiss-Prot for DNMBP Gene

  • Scaffold protein that links dynamin with actin-regulating proteins. May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNMBP Gene

Genomics for DNMBP Gene

Regulatory Elements for DNMBP Gene

Enhancers for DNMBP 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
GH10G099981 1.8 FANTOM5 Ensembl ENCODE dbSUPER 43.9 +26.2 26192 5.3 HDGF PKNOX1 FEZF1 ZNF2 YY1 ZNF121 GATA2 KLF7 FOS TSHZ1 DNMBP DNMBP-AS1
GH10G099974 1.6 FANTOM5 Ensembl ENCODE dbSUPER 41.4 +32.4 32376 6.5 TBP INSM2 RAD21 ZNF121 ZSCAN5C RCOR1 RELB FOS CEBPB TBX21 DNMBP DNMBP-AS1 BLOC1S2
GH10G099993 1.8 FANTOM5 Ensembl ENCODE dbSUPER 31.6 +14.4 14368 4.8 PKNOX1 ATF1 WRNIP1 ZNF121 SP3 YY2 TSHZ1 REST PBX2 WT1 DNMBP BLOC1S2 CHUK CWF19L1 ENTPD7 ERLIN1 DNMBP-AS1
GH10G099962 1.3 Ensembl ENCODE dbSUPER 41.9 +44.2 44190 6.3 HDAC1 ZSCAN4 SIN3A RAD21 ZNF121 GATA2 SCRT2 RCOR1 FOS RELB DNMBP DNMBP-AS1
GH10G099924 1.4 Ensembl ENCODE dbSUPER 38.6 +81.0 80993 8.9 PKNOX1 FOXA2 ZFP64 DMAP1 YY1 ZNF121 ZNF263 REST KAT8 GLIS1 DNMBP DNMBP-AS1 CWF19L1 BLOC1S2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNMBP on UCSC Golden Path with GeneCards custom track

Promoters for DNMBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032469 448 2601 PKNOX1 ATF1 FOXA2 ARNT ZFP64 WRNIP1 SIN3A FEZF1 ZNF2 YY1

Genomic Location for DNMBP Gene

Chromosome:
10
Start:
99,875,576 bp from pter
End:
100,009,948 bp from pter
Size:
134,373 bases
Orientation:
Minus strand

Genomic View for DNMBP Gene

Genes around DNMBP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DNMBP Gene

Proteins for DNMBP Gene

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

    Protein Symbol:
    Q6XZF7-DNMBP_HUMAN
    Recommended name:
    Dynamin-binding protein
    Protein Accession:
    Q6XZF7
    Secondary Accessions:
    • Q8IVY3
    • Q9Y2L3

    Protein attributes for DNMBP Gene

    Size:
    1577 amino acids
    Molecular mass:
    177347 Da
    Quaternary structure:
    • Binds DNM1 via its N-terminal SH3 domains. The C-terminal SH3 domain binds a complex containing actin, tubulin, Hsp70 and actin-regulatory proteins, such as ENAH, EVL, WASL, WIRE, CR16, WAVE1 and NAP1L1 (By similarity). Interacts with FASLG.

    Three dimensional structures from OCA and Proteopedia for DNMBP Gene

    Alternative splice isoforms for DNMBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNMBP Gene

Post-translational modifications for DNMBP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNMBP Gene

No data available for DME Specific Peptides for DNMBP Gene

Domains & Families for DNMBP Gene

Protein Domains for DNMBP Gene

Suggested Antigen Peptide Sequences for DNMBP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNMBP: view

No data available for UniProtKB/Swiss-Prot for DNMBP Gene

Function for DNMBP Gene

Molecular function for DNMBP Gene

UniProtKB/Swiss-Prot Function:
Scaffold protein that links dynamin with actin-regulating proteins. May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).

Gene Ontology (GO) - Molecular Function for DNMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IBA --
GO:0005515 protein binding IPI 16413298
genes like me logo Genes that share ontologies with DNMBP: view
genes like me logo Genes that share phenotypes with DNMBP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DNMBP

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

Localization for DNMBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNMBP Gene

Cytoplasm. Golgi apparatus, Golgi stack. Cytoplasm, cytoskeleton. Cell junction, synapse. Note=Localized to synapses and Golgi stacks. {ECO:0000250}.

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 DNMBP gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 3
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for DNMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack IEA --
GO:0005856 cytoskeleton IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with DNMBP: view

Pathways & Interactions for DNMBP Gene

SuperPathways for DNMBP Gene

SuperPathway Contained pathways
1 Regulation of CDC42 activity
genes like me logo Genes that share pathways with DNMBP: view

Pathways by source for DNMBP Gene

1 BioSystems pathway for DNMBP Gene

Gene Ontology (GO) - Biological Process for DNMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IBA --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IBA --
genes like me logo Genes that share ontologies with DNMBP: view

No data available for SIGNOR curated interactions for DNMBP Gene

Drugs & Compounds for DNMBP Gene

No Compound Related Data Available

Transcripts for DNMBP Gene

Unigene Clusters for DNMBP Gene

Dynamin binding protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DNMBP

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

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

Relevant External Links for DNMBP Gene

GeneLoc Exon Structure for
DNMBP
ECgene alternative splicing isoforms for
DNMBP

Expression for DNMBP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNMBP Gene

This gene is overexpressed in Cervix (46.1) and Breast (9.3).

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



Protein tissue co-expression partners for DNMBP Gene

NURSA nuclear receptor signaling pathways regulating expression of DNMBP Gene:

DNMBP

SOURCE GeneReport for Unigene cluster for DNMBP Gene:

Hs.500771

mRNA Expression by UniProt/SwissProt for DNMBP Gene:

Q6XZF7-DNMBP_HUMAN
Tissue specificity: Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for DNMBP Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with DNMBP: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNMBP Gene

Orthologs for DNMBP Gene

This gene was present in the common ancestor of animals.

Orthologs for DNMBP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNMBP 34 35
  • 85.37 (n)
dog
(Canis familiaris)
Mammalia DNMBP 34 35
  • 85.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dnmbp 34 16 35
  • 78.85 (n)
rat
(Rattus norvegicus)
Mammalia Dnmbp 34
  • 78.64 (n)
oppossum
(Monodelphis domestica)
Mammalia DNMBP 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNMBP 34 35
  • 67.32 (n)
lizard
(Anolis carolinensis)
Reptilia DNMBP 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnmbp 34
  • 61.06 (n)
Str.13042 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19408 34
zebrafish
(Danio rerio)
Actinopterygii dnmbp 34 35
  • 58.43 (n)
worm
(Caenorhabditis elegans)
Secernentea Y37A1B.17 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for DNMBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 DNMBP Gene

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

Paralogs for DNMBP Gene

Paralogs for DNMBP Gene

(4) SIMAP similar genes for DNMBP Gene using alignment to 4 proteins:

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

Variants for DNMBP Gene

Sequence variations from dbSNP and Humsavar for DNMBP Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000024628 -- 99,881,121(+) TACTC(A/G)GGAGG intron-variant
rs1000034119 -- 99,996,777(+) TAAAT(C/G)CAAAC intron-variant
rs1000040931 -- 99,984,972(+) CGTGA(G/T)TTCAA intron-variant
rs1000047196 -- 99,896,227(+) AAAGC(C/T)GTCAA intron-variant
rs1000095192 -- 99,924,730(+) TTGAA(C/T)ACAGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2678240 CNV deletion 23128226
esv3624353 CNV loss 21293372
esv3624354 CNV loss 21293372
esv3624355 CNV loss 21293372
nsv1046030 CNV loss 25217958
nsv1046825 CNV loss 25217958
nsv1118183 CNV deletion 24896259
nsv1144511 CNV deletion 24896259
nsv507574 OTHER sequence alteration 20534489
nsv516789 CNV loss 19592680
nsv552045 CNV gain 21841781
nsv7517 CNV insertion 18451855
nsv7518 CNV deletion 18451855
nsv825539 CNV loss 20364138
nsv825540 CNV gain 20364138
nsv831960 CNV gain 17160897
nsv948162 CNV duplication 23825009
nsv948163 CNV duplication 23825009

Variation tolerance for DNMBP Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.56; 77.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNMBP Gene

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

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

Disorders for DNMBP Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNMBP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search DNMBP in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNMBP

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

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

Publications for DNMBP Gene

  1. DNMBP is genetically associated with Alzheimer dementia in the Belgian population. (PMID: 18359537) Bettens K. … Van Broeckhoven C. (Neurobiol. Aging 2009) 3 22 46 64
  2. Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample. (PMID: 18452187) Morgan A.R. … Williams J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 22 46 64
  3. No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer's disease. (PMID: 17442457) Minster R.L. … Kamboh M.I. (Neurobiol. Aging 2008) 3 22 46 64
  4. Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. (PMID: 16740596) Kuwano R. … Ihara Y. (Hum. Mol. Genet. 2006) 3 22 46 64
  5. Tuba, a novel protein containing bin/amphiphysin/Rvs and Dbl homology domains, links dynamin to regulation of the actin cytoskeleton. (PMID: 14506234) Salazar M.A. … De Camilli P. (J. Biol. Chem. 2003) 2 3 4 64

Products for DNMBP Gene

  • Addgene plasmids for DNMBP

Sources for DNMBP Gene

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