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Aliases for NBPF7 Gene

Aliases for NBPF7 Gene

  • Neuroblastoma Breakpoint Family, Member 7 2 3

External Ids for NBPF7 Gene

Summaries for NBPF7 Gene

Entrez Gene Summary for NBPF7 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 2013]

GeneCards Summary for NBPF7 Gene

NBPF7 (Neuroblastoma Breakpoint Family, Member 7) is a Protein Coding gene. Diseases associated with NBPF7 include neuroblastoma and schizophrenia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF7 Gene

Genomics for NBPF7 Gene

Genomic Location for NBPF7 Gene

Start:
119,834,765 bp from pter
End:
119,844,880 bp from pter
Size:
10,116 bases
Orientation:
Minus strand

Genomic View for NBPF7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF7 Gene

Regulatory Elements for NBPF7 Gene

Proteins for NBPF7 Gene

  • Protein details for NBPF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C2Y1-NBPF7_HUMAN
    Recommended name:
    Putative neuroblastoma breakpoint family member 7
    Protein Accession:
    P0C2Y1
    Secondary Accessions:

    Protein attributes for NBPF7 Gene

    Size:
    421 amino acids
    Molecular mass:
    48090 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 NBPF7 Gene

Proteomics data for NBPF7 Gene at MOPED

Post-translational modifications for NBPF7 Gene

No Post-translational modifications

Other Protein References for NBPF7 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for NBPF7 Gene

Domains for NBPF7 Gene

Gene Families for NBPF7 Gene

HGNC:
  • NBPF :neuroblastoma breakpoint family

Protein Domains for NBPF7 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

NBPF7_HUMAN
Domain:
  • Contains 2 NBPF domains.:
    • P0C2Y1
Family:
  • Belongs to the NBPF family.:
    • P0C2Y1
genes like me logo Genes that share domains with NBPF7: view

Function for NBPF7 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NBPF7 Gene

Localization for NBPF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF7 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for NBPF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF7: view

Pathways for NBPF7 Gene

SuperPathways for NBPF7 Gene

No Data Available

Interacting Proteins for NBPF7 Gene

Gene Ontology (GO) - Biological Process for NBPF7 Gene

None

No data available for Pathways by source for NBPF7 Gene

Transcripts for NBPF7 Gene

mRNA/cDNA for NBPF7 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF7 Gene

No ASD Table

Relevant External Links for NBPF7 Gene

GeneLoc Exon Structure for
NBPF7
ECgene alternative splicing isoforms for
NBPF7

Expression for NBPF7 Gene

mRNA expression in normal human tissues for NBPF7 Gene

mRNA differential expression in normal tissues according to GTEx for NBPF7 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (24.2), Testis (12.6), and Colon - Transverse (12.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NBPF7 Gene

genes like me logo Genes that share expressions with NBPF7: view

Orthologs for NBPF7 Gene

Evolution for NBPF7 Gene

ENSEMBL:
Gene Tree for NBPF7 (if available)
TreeFam:
Gene Tree for NBPF7 (if available)

No data available for Orthologs for NBPF7 Gene

Paralogs for NBPF7 Gene

Selected SIMAP similar genes for NBPF7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NBPF7: view

No data available for Paralogs for NBPF7 Gene

Variants for NBPF7 Gene

Sequence variations from dbSNP and Humsavar for NBPF7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs947274 -- 119,839,829(+) TAAAA(A/T)GTAAA intron-variant
rs1815687 -- 119,834,506(+) TTTTC(A/C)GCAAG downstream-variant-500B
rs2039935 -- 119,839,071(+) GCACC(G/T)AGCTC intron-variant
rs2153676 -- 119,844,753(+) CCAGC(A/G)TGCCA utr-variant-5-prime
rs2211293 -- 119,839,893(+) TTCCT(C/T)TGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF7 Gene

Variant ID Type Subtype PubMed ID
nsv524681 CNV Gain 19592680
nsv831215 CNV Gain 17160897
dgv93e1 CNV Complex 17122850
nsv428201 CNV Gain 18775914
dgv94e1 CNV Complex 17122850
nsv831226 CNV Gain+Loss 17160897
nsv872180 CNV Loss 21882294
esv2716818 CNV Deletion 23290073
nsv10672 CNV Gain 18304495

Relevant External Links for NBPF7 Gene

HapMap Linkage Disequilibrium report
NBPF7

Disorders for NBPF7 Gene

(2) MalaCards Diseases for NBPF7 Gene

Search for NBPF7 Gene in MalaCards »

Relevant External Links for NBPF7

Genetic Association Database (GAD)
NBPF7
genes like me logo Genes that share disorders with NBPF7: view

No data available for UniProtKB/Swiss-Prot for NBPF7 Gene

Publications for NBPF7 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
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4

Products for NBPF7 Gene

Sources for NBPF7 Gene

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