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Aliases for NBPF20 Gene

Aliases for NBPF20 Gene

  • NBPF Member 20 2 3 5
  • Neuroblastoma Breakpoint Family, Member 20 2

External Ids for NBPF20 Gene

Previous GeneCards Identifiers for NBPF20 Gene

  • GC01P9K0165
  • GC01M146616
  • GC01M148250

Summaries for NBPF20 Gene

Entrez Gene Summary for NBPF20 Gene

  • This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]

GeneCards Summary for NBPF20 Gene

NBPF20 (NBPF Member 20) is a Protein Coding gene. Diseases associated with NBPF20 include Neuroblastoma. An important paralog of this gene is NBPF19.

Gene Wiki entry for NBPF20 Gene

Additional gene information for NBPF20 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF20 Gene

Genomics for NBPF20 Gene

GeneHancer (GH) Regulatory Elements for NBPF20 Gene

Promoters and enhancers for NBPF20 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
GH01I146034 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 90.2 -631.8 -631773 5.6 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 HFE2 GC01P146046 PIR58458 TRG-TCC2-1 TRH-GTG1-1 TRK-CTT2-1 TRE-CTC1-1 PIAS3 POLR3C NBPF20
GH01I145990 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 45 -589.6 -589564 10.5 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 NFYC MEF2D TXNIP PIR35110 POLR3C NBPF20 LIX1L-AS1 PIAS3 ENSG00000213240 HFE2 RBM8A GPR89A
GH01I146050 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 53.7 -645.9 -645930 2.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 LINC01719 RNVU1-6 POLR3C PIAS3 NBPF20 ENSG00000213240 ANKRD35 GPR89A ENSG00000234225 GC01M146050
GH01I144997 Enhancer 1.5 Ensembl ENCODE dbSUPER 57 +406.3 406256 4.2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF766 PIAS3 NBPF20 POLR3C PFN1P6 GPR89A NUDT17 LOC645166 LIX1L-AS1 GNRHR2 ENSG00000271644
GH01I146226 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 34.6 -822.3 -822258 3.3 HDGF CLOCK ARNT SIN3A FEZF1 ZNF2 ZBTB7B POLR2B ZNF213 ZNF302 ENSG00000213240 LOC105371254 NOTCH2NL PIAS3 POLR3C NBPF20 ENSG00000234225 GPR89A NUDT17 PEX11B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF20 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NBPF20 gene promoter:

Genomic Locations for NBPF20 Gene

Genomic Locations for NBPF20 Gene
chr1:145,289,900-145,405,778
(GRCh38/hg38)
Size:
115,879 bases
Orientation:
Minus strand
chr1:148,250,249-148,347,506
(GRCh37/hg19)

Genomic View for NBPF20 Gene

Genes around NBPF20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF20 Gene

Proteins for NBPF20 Gene

  • Protein details for NBPF20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3BBV1-NBPFK_HUMAN
    Recommended name:
    Neuroblastoma breakpoint family member 20
    Protein Accession:
    Q3BBV1

    Protein attributes for NBPF20 Gene

    Size:
    942 amino acids
    Molecular mass:
    108576 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.

neXtProt entry for NBPF20 Gene

Post-translational modifications for NBPF20 Gene

No Post-translational modifications

Other Protein References for NBPF20 Gene

No data available for DME Specific Peptides for NBPF20 Gene

Domains & Families for NBPF20 Gene

Gene Families for NBPF20 Gene

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

Protein Domains for NBPF20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF20 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3BBV1

UniProtKB/Swiss-Prot:

NBPFK_HUMAN :
  • Belongs to the NBPF family.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF20: view

Function for NBPF20 Gene

Phenotypes From GWAS Catalog for NBPF20 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF20 Gene

Localization for NBPF20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF20 Gene

Cytoplasm.

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NBPF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF20: view

No data available for Subcellular locations from COMPARTMENTS for NBPF20 Gene

Pathways & Interactions for NBPF20 Gene

SuperPathways for NBPF20 Gene

No Data Available

Interacting Proteins for NBPF20 Gene

Selected Interacting proteins: Q3BBV1-NBPFK_HUMAN for NBPF20 Gene via IID

Gene Ontology (GO) - Biological Process for NBPF20 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF20 Gene

Drugs & Compounds for NBPF20 Gene

No Compound Related Data Available

Transcripts for NBPF20 Gene

mRNA/cDNA for NBPF20 Gene

(1) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF20 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6
SP1:
SP2: - - - -
SP3:

Relevant External Links for NBPF20 Gene

GeneLoc Exon Structure for
NBPF20
ECgene alternative splicing isoforms for
NBPF20

Expression for NBPF20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF20 Gene

mRNA differential expression in normal tissues according to GTEx for NBPF20 Gene

This gene is overexpressed in Brain - Cerebellum (x5.2) and Brain - Cerebellar Hemisphere (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of NBPF20 Gene:

NBPF20

Evidence on tissue expression from TISSUES for NBPF20 Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with NBPF20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF20 Gene

Orthologs for NBPF20 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NBPF20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 98 (a)
ManyToMany
-- 34
  • 98 (a)
ManyToMany
-- 34
  • 97 (a)
ManyToMany
-- 34
  • 97 (a)
ManyToMany
-- 34
  • 87 (a)
ManyToMany
LOC458021 33
  • 84.03 (n)
-- 34
  • 83 (a)
ManyToMany
-- 34
  • 78 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 37 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 33 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
Species where no ortholog for NBPF20 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NBPF20 Gene

ENSEMBL:
Gene Tree for NBPF20 (if available)
TreeFam:
Gene Tree for NBPF20 (if available)

Paralogs for NBPF20 Gene

(17) SIMAP similar genes for NBPF20 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NBPF20: view

Variants for NBPF20 Gene

Sequence variations from dbSNP and Humsavar for NBPF20 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1043882 -- 145,290,108(-) T/A/C 3_prime_UTR_variant
rs1043890 -- 145,290,097(-) G/A 3_prime_UTR_variant
rs1065210 -- 145,290,100(-) G/C 3_prime_UTR_variant
rs111226928 -- 145,396,046(-) A/G intron_variant
rs111254438 -- 145,388,710(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF20 Gene

Variant ID Type Subtype PubMed ID
nsv946997 CNV duplication 23825009
nsv946959 CNV duplication 23825009
nsv946958 CNV duplication 23825009
nsv946956 CNV duplication 23825009
nsv946955 CNV duplication 23825009
nsv946947 CNV duplication 23825009
nsv946946 CNV duplication 23825009
nsv946945 CNV duplication 23825009
nsv946916 CNV duplication 23825009
nsv946909 CNV duplication 23825009
nsv946908 CNV duplication 23825009
nsv946907 CNV duplication 23825009
nsv946906 CNV duplication 23825009
nsv946877 CNV duplication 23825009
nsv946873 CNV duplication 23825009
nsv946871 CNV duplication 23825009
nsv946870 CNV duplication 23825009
nsv946868 CNV duplication 23825009
nsv946867 CNV duplication 23825009
nsv946812 CNV duplication 23825009
nsv946722 CNV duplication 23825009
nsv946721 CNV duplication 23825009
nsv946718 CNV duplication 23825009
nsv946710 CNV duplication 23825009
nsv946685 CNV duplication 23825009
nsv1076344 CNV duplication 25765185
esv3350597 CNV duplication 20981092
esv3336272 CNV duplication 20981092

Variation tolerance for NBPF20 Gene

Gene Damage Index Score: 3.29; 53.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBPF20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBPF20 Gene

Disorders for NBPF20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF20 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NBPF20

genes like me logo Genes that share disorders with NBPF20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF20 Gene

Publications for NBPF20 Gene

  1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PMID: 16079250) Vandepoele K … van Roy F (Molecular biology and evolution 2005) 2 3 4 58

Products for NBPF20 Gene

Sources for NBPF20 Gene

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