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Aliases for NBPF12 Gene

Aliases for NBPF12 Gene

  • Neuroblastoma Breakpoint Family, Member 12 2 3
  • KIAA1245 2 3 4
  • Chromosome 1 Amplified Sequence 1 3 4
  • COAS1 3 4
  • Chomosome One Amplified Sequence 1 Cyclophilin 3

External Ids for NBPF12 Gene

Previous HGNC Symbols for NBPF12 Gene

  • KIAA1245

Previous GeneCards Identifiers for NBPF12 Gene

  • GC01P143685
  • GC01U901244
  • GC01M144746
  • GC01P144927
  • GC01M146617
  • GC01P146376

Summaries for NBPF12 Gene

Entrez Gene Summary for NBPF12 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, May 2013]

GeneCards Summary for NBPF12 Gene

NBPF12 (Neuroblastoma Breakpoint Family, Member 12) is a Protein Coding gene. Diseases associated with NBPF12 include neuroblastoma. An important paralog of this gene is NBPF11.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF12 Gene

Genomics for NBPF12 Gene

Genomic Location for NBPF12 Gene

146,938,545 bp from pter
146,996,202 bp from pter
57,658 bases
Plus strand

Genomic View for NBPF12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF12 Gene

No data available for Regulatory Elements for NBPF12 Gene

Proteins for NBPF12 Gene

  • Protein details for NBPF12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroblastoma breakpoint family member 12
    Protein Accession:
    Secondary Accessions:
    • O95877

    Protein attributes for NBPF12 Gene

    269 amino acids
    Molecular mass:
    31307 Da
    Quaternary structure:
    No Data Available
    • Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1
    • Sequence=CAI22485.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for NBPF12 Gene

Proteomics data for NBPF12 Gene at MOPED

Post-translational modifications for NBPF12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NBPF12 Gene

Domains & Families for NBPF12 Gene

Gene Families for NBPF12 Gene

Protein Domains for NBPF12 Gene


Suggested Antigen Peptide Sequences for NBPF12 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 3 NBPF domains.
  • Belongs to the NBPF family.
  • Contains 3 NBPF domains.
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF12: view

Function for NBPF12 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for NBPF12 Gene

Localization for NBPF12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF12 Gene


Gene Ontology (GO) - Cellular Components for NBPF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF12: view

No data available for Subcellular locations from COMPARTMENTS for NBPF12 Gene

Pathways & Interactions for NBPF12 Gene

SuperPathways for NBPF12 Gene

No Data Available

Interacting Proteins for NBPF12 Gene

Gene Ontology (GO) - Biological Process for NBPF12 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF12 Gene

Drugs & Compounds for NBPF12 Gene

No Compound Related Data Available

Transcripts for NBPF12 Gene

mRNA/cDNA for NBPF12 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF12 Gene

No ASD Table

Relevant External Links for NBPF12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF12 Gene

mRNA expression in normal human tissues for NBPF12 Gene

mRNA differential expression in normal tissues according to GTEx for NBPF12 Gene

This gene is overexpressed in Stomach (x5.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF12 Gene

mRNA Expression by UniProt/SwissProt for NBPF12 Gene

Tissue specificity: Widely expressed with highest levels in brain, ovary, mammary gland, skin and adipose tissue. Also expressed in testis. Detected in a number of tumors including osteosarcoma, mammary carcinoma and hepatocellular carcinoma.
genes like me logo Genes that share expression patterns with NBPF12: view

Protein tissue co-expression partners for NBPF12 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for NBPF12 Gene

Orthologs for NBPF12 Gene

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

Orthologs for NBPF12 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC458021 35
  • 81.22 (n)
  • 72.19 (a)
Species with no ortholog for NBPF12:
  • 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 NBPF12 Gene

Gene Tree for NBPF12 (if available)
Gene Tree for NBPF12 (if available)

Paralogs for NBPF12 Gene

Paralogs for NBPF12 Gene

genes like me logo Genes that share paralogs with NBPF12: view

Variants for NBPF12 Gene

Sequence variations from dbSNP and Humsavar for NBPF12 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs626585 -- 146,992,602(+) GATCT(A/C)TCCTT intron-variant
rs626598 -- 146,992,618(+) TTTTT(C/T)AACCA intron-variant
rs1043477 -- 146,994,545(+) CTGGT(C/G)TTCCA reference, synonymous-codon
rs1284539 -- 146,994,776(+) GACAC(A/G)TTCAC utr-variant-3-prime
rs3969671 -- 146,992,735(+) GGAGG(C/T)AGTAG missense, reference

Variation tolerance for NBPF12 Gene

Gene Damage Index Score: 8.60; 86.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NBPF12 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NBPF12 Gene

Disorders for NBPF12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • neuroblastoma 1
- elite association

Relevant External Links for NBPF12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NBPF12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF12 Gene

Publications for NBPF12 Gene

  1. Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21. (PMID: 11948409) Meza-Zepeda L.A. … Myklebost O. (Oncogene 2002) 2 67
  2. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 67
  3. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 67
  4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 67
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 67

Products for NBPF12 Gene

Sources for NBPF12 Gene

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