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Aliases for NBPF20 Gene

Aliases for NBPF20 Gene

  • Neuroblastoma Breakpoint Family 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, mental retardation, 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 (Neuroblastoma Breakpoint Family Member 20) is a Protein Coding gene. Diseases associated with NBPF20 include neuroblastoma. An important paralog of this gene is NBPF14.

Gene Wiki entry for NBPF20 Gene

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

Genomics for NBPF20 Gene

Regulatory Elements for NBPF20 Gene

Enhancers for NBPF20 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NBPF20 on UCSC Golden Path with GeneCards custom track

Genomic Location for NBPF20 Gene

Chromosome:
1
Start:
145,289,900 bp from pter
End:
145,405,778 bp from pter
Size:
115,879 bases
Orientation:
Minus strand

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

Proteomics data for NBPF20 Gene at MOPED

Post-translational modifications for NBPF20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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 :
  • Contains 7 NBPF domains.
  • Belongs to the NBPF family.
Domain:
  • Contains 7 NBPF domains.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF20: view

Function for NBPF20 Gene

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

Localization for NBPF20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF20 Gene

Cytoplasm.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NBPF20 Gene

Pathways & Interactions for NBPF20 Gene

SuperPathways for NBPF20 Gene

No Data Available

Interacting Proteins for NBPF20 Gene

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 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).
genes like me logo Genes that share expression patterns with NBPF20: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 LOC458021 35
  • 84.03 (n)
  • 76.57 (a)
-- 36
  • 98 (a)
ManyToMany
-- 36
  • 97 (a)
ManyToMany
-- 36
  • 78 (a)
ManyToMany
-- 36
  • 98 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
-- 36
  • 97 (a)
ManyToMany
-- 36
  • 87 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 29 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 37 (a)
OneToMany
Species with no ortholog for NBPF20:
  • 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 Sequence Context AA Info Type
rs482979 -- 145,405,473(-) ACCTC(A/G)AACCT intron-variant
rs600502 -- 145,395,828(+) atcca(C/T)cccaa intron-variant
rs516421 -- 145,407,220(-) GTTCA(G/T)TTCCC upstream-variant-2KB
rs518494 -- 145,400,728(-) TTCCC(C/T)CTTAA intron-variant
rs613569 -- 145,405,474(-) CACCT(C/T)GAACC intron-variant

Variation tolerance for NBPF20 Gene

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

Relevant External Links for NBPF20 Gene

HapMap Linkage Disequilibrium report
NBPF20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NBPF20 Gene

Disorders for NBPF20 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NBPF20

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Biol. Evol. 2005) 2 3 4 67

Products for NBPF20 Gene

Sources for NBPF20 Gene

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