• Gene id: 55268

Gene Summary

• Gene Symbol: ECHDC2   Gene   UCSC   Ensembl
• Gene name: enoyl-CoA hydratase domain containing 2
• Alternate names: enoyl-CoA hydratase domain-containing protein 2, mitochondrial, enoyl Coenzyme A hydratase domain containing 2,
• Gene location: 1p32.3 (52927211: 52895909)     Exons: 16     NC_000001.11

Protein Summary

• Protein general information: Q86YB7  
  • Name: Enoyl CoA hydratase domain containing protein 2, mitochondrial
  • Length: 292  
  • Mass: 31126
• Sequence:

  MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDR
  QVRVLLFRSGVKGVFCAGADLKEREQMSEAEVGVFVQRLRGLMNDIAAFPAPTIAAMDGFALGGGLELALACDLR
  VAASSAVMGLIETTRGLLPGAGGTQRLPRCLGVALAKELIFTGRRLSGTEAHVLGLVNHAVAQNEEGDAAYQRAR
  ALAQEILPQAPIAVRLGKVAIDRGTEVDIASGMAIEGMCYAQNIPTRDRLEGMAAFREKRTPKFVGK

• Structural information:
  • Interpro: IPR029045  IPR018376  IPR001753  IPR014748  
  • Prosite: PS00166
  • STRING: ENSP00000360577
• Other Databases: GeneCards:  ECHDC2  Malacards:  ECHDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004300	enoyl-CoA hydratase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq