• Gene id: 404037

Gene Summary

• Gene Symbol: HAPLN4   Gene   UCSC   Ensembl
• Aliases: BRAL2
• Gene name: hyaluronan and proteoglycan link protein 4
• Alternate names: hyaluronan and proteoglycan link protein 4, brain link protein 2,
• Gene location: 19p13.11 (19262803: 19254755)     Exons: 5     NC_000019.10

Protein Summary

• Protein general information: Q86UW8  
  • Name: Hyaluronan and proteoglycan link protein 4 (Brain link protein 2)
  • Length: 402  
  • Mass: 42801
  • Tissue specificity: Expressed predominantly in brain. {ECO
• Sequence:

  MVCARAALGPGALWAAAWGVLLLTAPAGAQRGRKKVVHVLEGESGSVVVQTAPGQVVSHRGGTIVLPCRYHYEAA
  AHGHDGVRLKWTKVVDPLAFTDVFVALGPQHRAFGSYRGRAELQGDGPGDASLVLRNVTLQDYGRYECEVTNELE
  DDAGMVKLDLEGVVFPYHPRGGRYKLTFAEAQRACAEQDGILASAEQLHAAWRDGLDWCNAGWLRDGSVQYPVNR
  PREPCGGLGGTGSAGGGGDANGGLRNYGYRHNAEERYDAFCFTSNLPGRVFFLKPLRPVPFSGAARACAARGAAV
  AKVGQLFAAWKLQLLDRCTAGWLADGSARYPIVNPRARCGGRRPGVRSLGFPDATRRLFGVYCYRAPGAPDPAPG
  GWGWGWAGGGGWAGGARDPAAWTPLHV

• Structural information:
  • Protein Domains: (46..16-)
    (/note="Ig-like-C2-type)
    (163..26-)
    (/note="Link-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323,-ECO:0000305)
    (273..36-)
    (/note="Link-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323,-ECO:0000305")
  • Interpro: IPR016186  IPR016187  IPR007110  IPR036179  IPR013783   IPR003599  IPR003598  IPR013106  IPR000538  
  • Prosite: PS50835 PS01241 PS50963
  • STRING: ENSP00000291481
• Other Databases: GeneCards:  HAPLN4  Malacards:  HAPLN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system development	IBA	biological process
GO:0007417	central nervous system development	IBA	biological process
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005540	hyaluronic acid binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005540	hyaluronic acid binding	IEA	molecular function

Diseases

Associated diseases	References
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)