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Aliases for NBPF9 Gene

Aliases for NBPF9 Gene

  • NBPF Member 9 2 3 5
  • Neuroblastoma Breakpoint Family, Member 9 2 3
  • Neuroblastoma Breakpoint Family Member 9 3
  • AE01 3

External Ids for NBPF9 Gene

Previous GeneCards Identifiers for NBPF9 Gene

  • GC01P142302
  • GC01M016762
  • GC01P7I0164
  • GC01P144002
  • GC01M146619
  • GC01P144614

Summaries for NBPF9 Gene

Entrez Gene Summary for NBPF9 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, Apr 2013]

GeneCards Summary for NBPF9 Gene

NBPF9 (NBPF Member 9) is a Protein Coding gene. Diseases associated with NBPF9 include Neuroblastoma. An important paralog of this gene is NBPF26.

Additional gene information for NBPF9 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF9 Gene

Genomics for NBPF9 Gene

GeneHancer (GH) Regulatory Elements for NBPF9 Gene

Promoters and enhancers for NBPF9 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
GH01I149102 Promoter 1.3 Ensembl 550.8 +0.4 360 2 HDGF ATF1 SIN3A GLI4 ZNF2 POLR2B GLIS2 ZNF213 ARID2 ZNF143 LOC101060398 NBPF9 PIR59948 PIR60254
GH01I149082 Promoter 0.5 EPDnew 550.3 +21.2 21242 0.1 PIR49396 PIR58010 PIR52036 NBPF9 PIR56859
GH01I148973 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +127.8 127808 3.6 PKNOX1 BMI1 BATF KLF5 ATF7 BCLAF1 IKZF2 RUNX3 SMARCA5 CBFB SV2A PDE4DIP LOC647481 LOC101927468 ENSG00000227700 ENSG00000272755 NBPF9 LOC653513 PIR33316 ENSG00000254913
GH01I148941 Enhancer 1.2 Ensembl ENCODE dbSUPER 3.8 +160.7 160674 3.6 FOXA2 KLF17 YBX1 FEZF1 ZNF335 POLR2B ZNF366 SCRT2 FOS SMARCA5 NBPF9 RNU2-38P PIR31643 PDE4DIP
GH01I148980 Enhancer 0.3 dbSUPER 11.6 +120.6 120596 4.6 NFE2 NBPF9 PIR33316 ENSG00000254913 PDE4DIP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF9 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NBPF9 Gene

Genomic Locations for NBPF9 Gene
chr1:149,054,027-149,103,561
(GRCh38/hg38)
Size:
49,535 bases
Orientation:
Minus strand
chr1:144,614,959-144,621,685
(GRCh37/hg19)

Genomic View for NBPF9 Gene

Genes around NBPF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF9 Gene

Proteins for NBPF9 Gene

  • Protein details for NBPF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3BBW0-NBPF9_HUMAN
    Recommended name:
    Neuroblastoma breakpoint family member 9
    Protein Accession:
    Q3BBW0

    Protein attributes for NBPF9 Gene

    Size:
    867 amino acids
    Molecular mass:
    99594 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 NBPF9 Gene

Post-translational modifications for NBPF9 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF9 Gene

Domains & Families for NBPF9 Gene

Gene Families for NBPF9 Gene

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

Protein Domains for NBPF9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF9 Gene

Graphical View of Domain Structure for InterPro Entry

Q3BBW0

UniProtKB/Swiss-Prot:

NBPF9_HUMAN :
  • Belongs to the NBPF family.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF9: view

Function for NBPF9 Gene

Phenotypes for NBPF9 Gene

GenomeRNAi human phenotypes for NBPF9:
genes like me logo Genes that share phenotypes with NBPF9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF9 Gene

Localization for NBPF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF9 Gene

Cytoplasm.

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NBPF9 Gene

Pathways & Interactions for NBPF9 Gene

SuperPathways for NBPF9 Gene

No Data Available

Interacting Proteins for NBPF9 Gene

Gene Ontology (GO) - Biological Process for NBPF9 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF9 Gene

Drugs & Compounds for NBPF9 Gene

No Compound Related Data Available

Transcripts for NBPF9 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF9 Gene

No ASD Table

Relevant External Links for NBPF9 Gene

GeneLoc Exon Structure for
NBPF9
ECgene alternative splicing isoforms for
NBPF9

Expression for NBPF9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF9 Gene

Protein differential expression in normal tissues from HIPED for NBPF9 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF9 Gene



Protein tissue co-expression partners for NBPF9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBPF9 Gene:

NBPF9

mRNA Expression by UniProt/SwissProt for NBPF9 Gene:

Q3BBW0-NBPF9_HUMAN
Tissue specificity: Expressed in a neuroblastoma cell line.
genes like me logo Genes that share expression patterns with NBPF9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF9 Gene

Orthologs for NBPF9 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for NBPF9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC458021 33
  • 90.4 (n)
Species where no ortholog for NBPF9 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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 NBPF9 Gene

ENSEMBL:
Gene Tree for NBPF9 (if available)
TreeFam:
Gene Tree for NBPF9 (if available)

Paralogs for NBPF9 Gene

Pseudogenes.org Pseudogenes for NBPF9 Gene

genes like me logo Genes that share paralogs with NBPF9: view

Variants for NBPF9 Gene

Sequence variations from dbSNP and Humsavar for NBPF9 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1043478 -- 149,055,675(-) T/A/C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1043480 -- 149,055,601(-) C/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1065139 -- 149,054,528(-) G/A/C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1065202 -- 149,054,271(-) C/A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs111295005 -- 149,072,498(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF9 Gene

Variant ID Type Subtype PubMed ID
dgv16n82 CNV duplication 23825009
dgv175n106 CNV duplication 24896259
dgv177n106 CNV duplication 24896259
dgv66e199 CNV deletion 23128226
esv23161 CNV gain 19812545
esv24514 CNV gain 19812545
esv3329131 CNV duplication 20981092
esv3415664 CNV duplication 20981092
nsv1075390 CNV duplication 25765185
nsv1076336 CNV duplication 25765185
nsv1076337 CNV duplication 25765185
nsv1124587 CNV duplication 24896259
nsv1128621 CNV duplication 24896259
nsv1151867 CNV duplication 26484159
nsv1153254 CNV duplication 26484159
nsv8047 CNV gain 18304495
nsv831303 CNV loss 17160897
nsv831315 CNV loss 17160897
nsv946242 CNV duplication 23825009
nsv946244 CNV duplication 23825009
nsv946245 CNV duplication 23825009
nsv946744 CNV duplication 23825009
nsv946745 CNV duplication 23825009
nsv946747 CNV duplication 23825009
nsv946748 CNV duplication 23825009
nsv946749 CNV duplication 23825009
nsv946952 CNV duplication 23825009
nsv946953 CNV duplication 23825009
nsv946964 CNV duplication 23825009
nsv946967 CNV duplication 23825009
nsv950911 CNV duplication 24416366
nsv950944 CNV duplication 24416366
nsv951881 CNV duplication 24416366

Additional Variant Information for NBPF9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF9 Gene

Disorders for NBPF9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF9 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search NBPF9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NBPF9

genes like me logo Genes that share disorders with NBPF9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF9 Gene

Publications for NBPF9 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
  2. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan JA … Goldberg AL (The EMBO journal 2013) 3 58
  3. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  5. Lineage-specific gene duplication and loss in human and great ape evolution. (PMID: 15252450) Fortna A … Sikela JM (PLoS biology 2004) 3 58

Products for NBPF9 Gene

Sources for NBPF9 Gene

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