• Gene id: 10328

Gene Summary

• Gene Symbol: EMC8   Gene   UCSC   Ensembl
• Aliases: C16orf2, C16orf4, COX4NB, FAM158B, NOC4
• Gene name: ER membrane protein complex subunit 8
• Alternate names: ER membrane protein complex subunit 8, COX4 neighbor, family with sequence similarity 158, member B, neighbor of COX4,
• Gene location: 16q24.1 (85799554: 85778623)     Exons: 8     NC_000016.10
• OMIM: 604886

Protein Summary

• Protein general information: O43402  
  • Name: ER membrane protein complex subunit 8 (Neighbor of COX4) (Protein FAM158B)
  • Length: 210  
  • Mass: 23773
  • Tissue specificity: Expressed in liver, pancreas, heart, lung, kidney, brain, skeletal muscle, and placenta. Expression levels are highest in pancreas and moderate in heart, skeletal muscle, and placenta.
• Sequence:

  MPGVKLTTQAYCKMVLHGAKYPHCAVNGLLVAEKQKPRKEHLPLGGPGAHHTLFVDCIPLFHGTLALAPMLEVAL
  TLIDSWCKDHSYVIAGYYQANERVKDASPNQVAEKVASRIAEGFSDTALIMVDNTKFTMDCVAPTIHVYEHHENR
  WRCRDPHHDYCEDWPEAQRISASLLDSRSYETLVDFDNHLDDIRNDWTNPEINKAVLHLC

• Structural information:
  • Protein Domains: (4..15-)
    (/note="MPN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01182"-)
  • Interpro: IPR005366  IPR037518  
  • Prosite: PS50249
  • CDD: cd08060
  • STRING: ENSP00000253457
• Other Databases: GeneCards:  EMC8  Malacards:  EMC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072546	ER membrane protein complex	IBA	cellular component
GO:0072546	ER membrane protein complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0072546	ER membrane protein complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	TAS	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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