• Gene id: 26521

Gene Summary

• Gene Symbol: TIMM8B   Gene   UCSC   Ensembl
• Aliases: DDP2, TIM8B
• Gene name: translocase of inner mitochondrial membrane 8 homolog B
• Alternate names: mitochondrial import inner membrane translocase subunit Tim8 B, DDP-like protein, deafness dystonia protein 2,
• Gene location: 11q23.1 (112086755: 112084799)     Exons: 3     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into com
• OMIM: 606659

Protein Summary

• Protein general information: Q9Y5J9  
  • Name: Mitochondrial import inner membrane translocase subunit Tim8 B (DDP like protein) (Deafness dystonia protein 2)
  • Length: 83  
  • Mass: 9344
  • Tissue specificity: Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle. {ECO
• Sequence:

  MAELGEADEAELQRLVAAEQQKAQFTAQVHHFMELCWDKCVEKPGNRLDSRTENCLSSCVDRFIDTTLAITSRFA
  QIVQKGGQ

• Structural information:
  • Interpro: IPR004217  IPR035427  IPR039238  
  • STRING: ENSP00000438455
• Other Databases: GeneCards:  TIMM8B  Malacards:  TIMM8B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0072321	chaperone-mediated protein transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0008270	zinc ion binding	TAS	molecular function
GO:0007605	sensory perception of sound	TAS	biological process
GO:0006626	protein targeting to mitochondrion	TAS	biological process
GO:0042719	mitochondrial intermembrane space protein transporter complex	TAS	cellular component
GO:0072321	chaperone-mediated protein transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray