• Gene id: 254050

Gene Summary

• Gene Symbol: LRRC43   Gene   UCSC   Ensembl
• Gene name: leucine rich repeat containing 43
• Alternate names: leucine-rich repeat-containing protein 43,
• Gene location: 12q24.31 (26091216: 26016252)     Exons: 17     NC_000018.10

SNPs

rs4758680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.122170805T>A
NC_000012.12   g.122170805T>G
NC_000012.11   g.122655352T>A
NC_000012.11   g.122655352T>G|SEQ=[T/A/G]|GENE=LRRC43

Protein Summary

• Protein general information: Q8N309  
  • Name: Leucine rich repeat containing protein 43
  • Length: 656  
  • Mass: 73022
• Sequence:

  MEASYESESESESEAGPGTQRPGTGTVSAAVREHLRKLCLREFPCGAGSWNKSRFLPQTWRTWRELVPREEDVVS
  PGEETVEALLGLVRSRHSPWALLNNSNAEDSFLRELAIRNPLTITDTFFYSYFRSLRVIDKKVTLVDKDLLKFLK
  LEELVLSANRIKEVDATNLPPTLKVLELYGNEISSMECLCAHPPAGLQHLGLGHNKLLGPLESLYVTANHWPNLV
  SLDLGFNDLTDLQSMVTSLRTLRHLRLLVLQGNPLALVPYYRGLTIDSLAQLCVLDDITVSPNEKHLFRGLSLNG
  DLLAQEAQFVVTIGNIRGVLDTSVLDPEPRPEGPFITYNYYVTYDFVKDEEGEMNESAGVLAEIVKPSPSLELLV
  EESPEEVVEDVIEDIVEEVTEEVEGSLESEVEESGESELSVISGPSTILQMPRASAEELAKLRLRIDPRLCPSPG
  TVLFSTAHKPWAEVIPCSYEMQHSLRDLVPLKAFLLAGTTVTIVEEKILSWPVVLPAVDSPLSAKKGKGEKDKKG
  KEKDRTGKGEKEPAKEWKVLKKKKEPPKELRQDPPILQVLGRGLVILEPLLAGEPLVSTVCNFGVVRTLTSDRLT
  LARDSKKIKKVAKKEKPKAVIPIYEGDYHPEPLTVEVQIQLNQCRSAEEALRMFAV

• Structural information:
  • Protein Domains: (258..29-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000344233
• Other Databases: GeneCards:  LRRC43  Malacards:  LRRC43

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq