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Aliases for DCBLD2 Gene

Aliases for DCBLD2 Gene

  • Discoidin, CUB And LCCL Domain Containing 2 2 3 5
  • Endothelial And Smooth Muscle Cell-Derived Neuropilin-Like Protein 3 4
  • CUB, LCCL And Coagulation Factor V/VIII-Homology Domains Protein 1 3 4
  • CLCP1 3 4
  • ESDN 3 4
  • Coagulation Factor V/VIII-Homology Domains Protein 1 3
  • Discoidin, CUB And LCCL Domain-Containing Protein 2 3
  • 1700055P21Rik 3

External Ids for DCBLD2 Gene

Previous GeneCards Identifiers for DCBLD2 Gene

  • GC03M099836
  • GC03M099997
  • GC03M098514
  • GC03M095886

Summaries for DCBLD2 Gene

GeneCards Summary for DCBLD2 Gene

DCBLD2 (Discoidin, CUB And LCCL Domain Containing 2) is a Protein Coding gene. Diseases associated with DCBLD2 include X-Linked Nonsyndromic Deafness. Among its related pathways are Neuroscience. An important paralog of this gene is F8.

Gene Wiki entry for DCBLD2 Gene

Additional gene information for DCBLD2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCBLD2 Gene

Genomics for DCBLD2 Gene

GeneHancer (GH) Regulatory Elements for DCBLD2 Gene

Promoters and enhancers for DCBLD2 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
GH03I098890 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 569.8 +3.9 3924 15.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP3 DCBLD2 ST3GAL6 CPOX LOC105374002 GC03M098805 RNU6-26P
GH03I098965 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 27.2 -67.9 -67907 7.4 PKNOX1 JUN ZSCAN4 SIN3A BATF ZEB1 FOSL1 POLR2A SCRT2 RCOR1 DCBLD2 PDLIM1P4 ST3GAL6-AS1 GC03M098967 RNU6-1263P LOC105374002
GH03I098976 Enhancer 1.3 Ensembl ENCODE dbSUPER 23.3 -80.2 -80172 11 SIN3A IRF4 ETS1 ATF7 FOS RUNX3 SP3 JUNB REST TSHZ1 LOC105374003 LINC00973 DCBLD2 PDLIM1P4 LOC105374002 GC03M099070
GH03I098776 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.5 +123.0 123021 4.7 FOXA2 MLX ARID4B DMAP1 YY1 RUNX3 RXRA SP5 NFYC ZHX2 ST3GAL6 DCBLD2 ST3GAL6-AS1 CPOX PDLIM1P4 GC03P098755
GH03I098782 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.7 +116.8 116837 4.9 FOXA2 MLX ARID4B ETS1 YY1 ATF7 FOS RUNX3 RXRA SP5 ST3GAL6 DCBLD2 ST3GAL6-AS1 CPOX OR5K4 PDLIM1P4 GC03M098805 RNU6-26P GC03P098755
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DCBLD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DCBLD2 gene promoter:

Genomic Locations for DCBLD2 Gene

Genomic Locations for DCBLD2 Gene
chr3:98,795,941-98,901,689
(GRCh38/hg38)
Size:
105,749 bases
Orientation:
Minus strand
chr3:98,514,785-98,620,533
(GRCh37/hg19)

Genomic View for DCBLD2 Gene

Genes around DCBLD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCBLD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCBLD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCBLD2 Gene

Proteins for DCBLD2 Gene

  • Protein details for DCBLD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PD2-DCBD2_HUMAN
    Recommended name:
    Discoidin, CUB and LCCL domain-containing protein 2
    Protein Accession:
    Q96PD2
    Secondary Accessions:
    • B7WNL1
    • D3DN41
    • Q8N6M4
    • Q8TDX2

    Protein attributes for DCBLD2 Gene

    Size:
    775 amino acids
    Molecular mass:
    85035 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DCBLD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCBLD2 Gene

Post-translational modifications for DCBLD2 Gene

  • Ubiquitination at posLast=586586
  • Glycosylation at posLast=9595, Asn155, posLast=272272, posLast=474474, Thr490, Asn516, and Asn522

Other Protein References for DCBLD2 Gene

No data available for DME Specific Peptides for DCBLD2 Gene

Domains & Families for DCBLD2 Gene

Gene Families for DCBLD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for DCBLD2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DCBLD2: view

No data available for UniProtKB/Swiss-Prot for DCBLD2 Gene

Function for DCBLD2 Gene

Molecular function for DCBLD2 Gene

UniProtKB/Swiss-Prot Induction:
Increased in lung cancers during the process of tumor progression.

Phenotypes From GWAS Catalog for DCBLD2 Gene

Gene Ontology (GO) - Molecular Function for DCBLD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23770091
genes like me logo Genes that share ontologies with DCBLD2: view
genes like me logo Genes that share phenotypes with DCBLD2: view

Animal Models for DCBLD2 Gene

MGI Knock Outs for DCBLD2:

Animal Model Products

miRNA for DCBLD2 Gene

miRTarBase miRNAs that target DCBLD2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DCBLD2 Gene

Localization for DCBLD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCBLD2 Gene

Membrane; Single-pass type I membrane protein.

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 DCBLD2 gene
Compartment Confidence
plasma membrane 5
cytosol 2
golgi apparatus 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCBLD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 11447234
GO:0009986 cell surface IDA 11447234
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DCBLD2: view

Pathways & Interactions for DCBLD2 Gene

SuperPathways for DCBLD2 Gene

SuperPathway Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with DCBLD2: view

Pathways by source for DCBLD2 Gene

1 Cell Signaling Technology pathway for DCBLD2 Gene

Gene Ontology (GO) - Biological Process for DCBLD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030308 negative regulation of cell growth IDA 11447234
GO:0030522 intracellular receptor signaling pathway NAS 11447234
GO:0042060 wound healing IDA 11447234
genes like me logo Genes that share ontologies with DCBLD2: view

No data available for SIGNOR curated interactions for DCBLD2 Gene

Drugs & Compounds for DCBLD2 Gene

No Compound Related Data Available

Transcripts for DCBLD2 Gene

Unigene Clusters for DCBLD2 Gene

Discoidin, CUB and LCCL domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCBLD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c
SP1: - - -
SP2: - -
SP3:
SP4: -

Relevant External Links for DCBLD2 Gene

GeneLoc Exon Structure for
DCBLD2
ECgene alternative splicing isoforms for
DCBLD2

Expression for DCBLD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCBLD2 Gene

Protein differential expression in normal tissues from HIPED for DCBLD2 Gene

This gene is overexpressed in Liver (44.9) and Amniocyte (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DCBLD2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DCBLD2 Gene:

DCBLD2

SOURCE GeneReport for Unigene cluster for DCBLD2 Gene:

Hs.203691

mRNA Expression by UniProt/SwissProt for DCBLD2 Gene:

Q96PD2-DCBD2_HUMAN
Tissue specificity: Highly expressed in testis, heart, skeletal muscle and also in cultured vascular smooth muscle cells.

Evidence on tissue expression from TISSUES for DCBLD2 Gene

  • Lung(4.2)
  • Skin(2.4)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with DCBLD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCBLD2 Gene

Orthologs for DCBLD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DCBLD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCBLD2 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia DCBLD2 33 34
  • 91.1 (n)
cow
(Bos Taurus)
Mammalia DCBLD2 33 34
  • 89.55 (n)
rat
(Rattus norvegicus)
Mammalia Dcbld2 33
  • 85.88 (n)
mouse
(Mus musculus)
Mammalia Dcbld2 33 16 34
  • 85.48 (n)
oppossum
(Monodelphis domestica)
Mammalia DCBLD2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves DCBLD2 33 34
  • 74.51 (n)
lizard
(Anolis carolinensis)
Reptilia DCBLD2 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcbld2 33
  • 69.15 (n)
zebrafish
(Danio rerio)
Actinopterygii dcbld2 34
  • 56 (a)
OneToOne
Species where no ortholog for DCBLD2 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)
  • 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 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 DCBLD2 Gene

ENSEMBL:
Gene Tree for DCBLD2 (if available)
TreeFam:
Gene Tree for DCBLD2 (if available)

Paralogs for DCBLD2 Gene

Paralogs for DCBLD2 Gene

(6) SIMAP similar genes for DCBLD2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DCBLD2: view

Variants for DCBLD2 Gene

Sequence variations from dbSNP and Humsavar for DCBLD2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000011822 -- 98,830,889(-) T/A intron_variant
rs1000058411 -- 98,903,600(-) G/A upstream_transcript_variant
rs1000089143 -- 98,871,041(-) T/C intron_variant
rs1000110338 -- 98,903,380(-) T/G upstream_transcript_variant
rs1000143345 -- 98,862,729(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DCBLD2 Gene

Variant ID Type Subtype PubMed ID
nsv591065 CNV gain 21841781
nsv509842 OTHER sequence alteration 20534489
nsv1136755 CNV deletion 24896259
esv2606873 CNV deletion 19546169

Variation tolerance for DCBLD2 Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCBLD2 Gene

Human Gene Mutation Database (HGMD)
DCBLD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCBLD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCBLD2 Gene

Disorders for DCBLD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DCBLD2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
x-linked nonsyndromic deafness
  • x-linked deafness
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DCBLD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DCBLD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCBLD2 Gene

Publications for DCBLD2 Gene

  1. ESDN, a novel neuropilin-like membrane protein cloned from vascular cells with the longest secretory signal sequence among eukaryotes, is up-regulated after vascular injury. (PMID: 11447234) Kobuke K … Tashiro K (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Endothelial and smooth muscle-derived neuropilin-like protein regulates platelet-derived growth factor signaling in human vascular smooth muscle cells by modulating receptor ubiquitination. (PMID: 19696027) Guo X … Sadeghi MM (The Journal of biological chemistry 2009) 3 22 58
  4. ESDN is a marker of vascular remodeling and regulator of cell proliferation in graft arteriosclerosis. (PMID: 17697260) Sadeghi MM … Rodriguez ER (American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2007) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DCBLD2 Gene

Sources for DCBLD2 Gene

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