• Gene id: 84224

Gene Summary

• Gene Symbol: NBPF3   Gene   UCSC   Ensembl
• Aliases: AE2
• Gene name: NBPF member 3
• Alternate names: neuroblastoma breakpoint family member 3, protein SHIIIa4,
• Gene location: 1p36.12 (21436774: 21485004)     Exons: 21     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 612992

Protein Summary

• Protein general information: Q9H094  
  • Name: Neuroblastoma breakpoint family member 3 (Protein AE2) (Protein SHIIIa4)
  • Length: 633  
  • Mass: 72951
  • Tissue specificity: Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line. {ECO
• Sequence:

  MPLTPTVQGFQWTLRGPDVETSPFGAPRAASHGVGRHQELRDPTVPGPTSSATNVSMVVSAGPWSGEKAEMNILE
  INKKSRPQLAENKQQFRNLKQKCLVTQVAYFLANRQNNYDYEDCKDLIKSMLRDERLLTEEKLAEELGQAEELRQ
  YKVLVHSQERELTQLREKLQEGRDASRSLNQHLQALLTPDEPDNSQGRDLREQLAEGCRLAQHLVQKLSPENDDD
  EDEDVKVEEAEKVQELYAPREVQKAEEKEVPEDSLEECAITCSNSHHPCESNQPYGNTRITFEEDQVDSTLIDSS
  SHDEWLDAVCIIPENESDHEQEEEKGPVSPRNLQESEEEEAPQESWDEGDWTLSIPPDMSASYQSDRSTFHSVEE
  QQVGLALDIGRHWCDQVKKEDQEATSPRLSRELLDEKEPEVLQDSLDRFYSTPFEYLELPDLCQPYRSDFYSLQE
  QHLGLALDLDRMKKDQEEEEDQGPPCPRLSRELPEVVEPEDLQDSLDRWYSTPFSYPELPDSCQPYGSCFYSLEE
  EHVGFSLDVDEIEKYQEGEEDQKPPCPRLNEVLMEAEEPEVLQDSLDRCYSTTSTYFQLHASFQQYRSAFYSFEE
  QDVSLALDVDNRFFTLTVIRHHLAFQMGVIFPH

• Structural information:
  • Protein Domains: (221..31-)
    (/note="Olduvai-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647-)
    (314..40-)
    (/note="Olduvai-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647-)
    (405..46-)
    (/note="Olduvai-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR010630  
  • Prosite: PS51316
  • STRING: ENSP00000316782
• Other Databases: GeneCards:  NBPF3  Malacards:  NBPF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881