• Gene id: 84141

Gene Summary

• Gene Symbol: EVA1A   Gene   UCSC   Ensembl
• Aliases: FAM176A, TMEM166
• Gene name: eva-1 homolog A, regulator of programmed cell death
• Alternate names: protein eva-1 homolog A, family with sequence similarity 176, member A, protein FAM176A, transmembrane protein 166,
• Gene location: 2p12 (215138625: 214931541)     Exons: 55     NC_000002.12

Protein Summary

• Protein general information: Q9H8M9  
  • Name: Protein eva 1 homolog A (Protein FAM176A) (Transmembrane protein 166)
  • Length: 152  
  • Mass: 17470
  • Tissue specificity: Expressed in lung, kidney, liver, pancreas, placenta, but not in heart and skeletal muscle. {ECO
• Sequence:

  MRLPLSHSPEHVEMALLSNILAAYSFVSENPERAALYFVSGVCIGLVLTLAALVIRISCHTDCRRRPGKKFLQDR
  ESSSDSSDSEDGSEDTVSDLSVRRHRRFERTLNKNVFTSAEELERAQRLEERERIIREIWMNGQPEVPGTRSLNR
  YY

• Structural information:
  • Interpro: IPR039500  IPR039501  
  • STRING: ENSP00000233712
• Other Databases: GeneCards:  EVA1A  Malacards:  EVA1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq