• Gene id: 1993

Gene Summary

• Gene Symbol: ELAVL2   Gene   UCSC   Ensembl
• Aliases: HEL-N1, HELN1, HUB
• Gene name: ELAV like RNA binding protein 2
• Alternate names: ELAV-like protein 2, ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B), ELAV like neuron-specific RNA binding protein 2, ELAV-like neuronal protein 1 isoform Hel-N2, hu-antigen B, nervous system-specific RNA-binding protein Hel-N1,
• Gene location: 9p21.3 (144836423: 144451940)     Exons: 27     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encodin
• OMIM: 601673

Protein Summary

• Protein general information: Q12926  
  • Name: ELAV like protein 2 (ELAV like neuronal protein 1) (Hu antigen B) (HuB) (Nervous system specific RNA binding protein Hel N1)
  • Length: 359  
  • Mass: 39504
  • Tissue specificity: Brain; neural-specific.
• Sequence:

  METQLSNGPTCNNTANGPTTINNNCSSPVDSGNTEDSKTNLIVNYLPQNMTQEELKSLFGSIGEIESCKLVRDKI
  TGQSLGYGFVNYIDPKDAEKAINTLNGLRLQTKTIKVSYARPSSASIRDANLYVSGLPKTMTQKELEQLFSQYGR
  IITSRILVDQVTGISRGVGFIRFDKRIEAEEAIKGLNGQKPPGATEPITVKFANNPSQKTNQAILSQLYQSPNRR
  YPGPLAQQAQRFRLDNLLNMAYGVKRFSPMTIDGMTSLAGINIPGHPGTGWCIFVYNLAPDADESILWQMFGPFG
  AVTNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKTHKA

• Structural information:
  • Protein Domains: (39..11-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (125..20-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (276..35-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR006548  IPR034775  IPR034999  IPR034914  IPR002343   IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12650 cd12775 cd12654
  • STRING: ENSP00000380479
• Other Databases: GeneCards:  ELAVL2  Malacards:  ELAVL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003730	mRNA 3'-UTR binding	TAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 21412036
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray