• Gene id: 114794

Gene Summary

• Gene Symbol: ELFN2   Gene   UCSC   Ensembl
• Aliases: LRRC62, PPP1R29
• Gene name: extracellular leucine rich repeat and fibronectin type III domain containing 2
• Alternate names: protein phosphatase 1 regulatory subunit 29, dJ63G5.3 (putative Leucine rich protein), leucine-rich repeat and fibronectin type-III domain-containing protein 6, leucine-rich repeat-containing protein 62,
• Gene location: 22q13.1 (37427478: 37340643)     Exons: 5     NC_000022.11

Protein Summary

• Protein general information: Q5R3F8  
  • Name: Protein phosphatase 1 regulatory subunit 29 (Extracellular leucine rich repeat and fibronectin type III domain containing protein 2) (Leucine rich repeat and fibronectin type III domain containing protein 6) (Leucine rich repeat containing protein 62)
  • Length: 820  
  • Mass: 89687
• Sequence:

  MLRLGLCAAALLCVCRPGAVRADCWLIEGDKGYVWLAICSQNQPPYETIPQHINSTVHDLRLNENKLKAVLYSSL
  NRFGNLTDLNLTKNEISYIEDGAFLGQSSLQVLQLGYNKLSNLTEGMLRGMSRLQFLFVQHNLIEVVTPTAFSEC
  PSLISIDLSSNRLSRLDGATFASLASLMVCELAGNPFNCECDLFGFLAWLVVFNNVTKNYDRLQCESPREFAGYP
  LLVPRPYHSLNAITVLQAKCRNGSLPARPVSHPTPYSTDAQREPDENSGFNPDEILSVEPPASSTTDASAGPAIK
  LHHVTFTSATLVVIIPHPYSKMYILVQYNNSYFSDVMTLKNKKEIVTLDKLRAHTEYTFCVTSLRNSRRFNHTCL
  TFTTRDPVPGDLAPSTSTTTHYIMTILGCLFGMVIVLGAVYYCLRKRRMQEEKQKSVNVKKTILEMRYGADVDAG
  SIVHAAQKLGEPPVLPVSRMASIPSMIGEKLPTAKGLEAGLDTPKVATKGNYIEVRTGAGGDGLARPEDDLPDLE
  NGQGSAAEISTIAKEVDKVNQIINNCIDALKLDSASFLGGGSSSGDPELAFECQSLPAAAAASSATGPGALERPS
  FLSPPYKESSHHPLQRQLSADAAVTRKTCSVSSSGSIKSAKVFSLDVPDHPAATGLAKGDSKYIEKGSPLNSPLD
  RLPLVPAGSGGGSGGGGGIHHLEVKPAYHCSEHRHSFPALYYEEGADSLSQRVSFLKPLTRSKRDSTYSQLSPRH
  YYSGYSSSPEYSSESTHKIWERFRPYKKHHREEVYMAAGHALRKKVQFAKDEDLHDILDYWKGVSAQQKL

• Structural information:
  • Protein Domains: (185..24-)
    (/note="LRRCT-)
    (292..37-)
    (/note="Fibronectin-type-III")
  • Interpro: IPR001611  IPR003591  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000385277
• Other Databases: GeneCards:  ELFN2  Malacards:  ELFN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0004864	protein phosphatase inhibitor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process

Diseases

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