TIMM8A (translocase of inner mitochondrial membrane 8A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1678
Gene name Gene Name - the full gene name approved by the HGNC.
Translocase of inner mitochondrial membrane 8A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TIMM8A
Synonyms (NCBI Gene) Gene synonyms aliases
DDP, DDP1, DFN1, MTS, TIM8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MTS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs1054894 G>A Pathogenic Stop gained, 3 prime UTR variant, coding sequence variant
rs80356559 G>A Pathogenic Coding sequence variant, stop gained
rs80356560 G>C Pathogenic Coding sequence variant, 3 prime UTR variant, missense variant
rs111033631 C>A,G Pathogenic Coding sequence variant, stop gained, missense variant
rs863224234 G>A Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(648)
miRTarBase ID miRNA Experiments Reference
MIRT000053 hsa-miR-375 Luciferase reporter assay 19734348
MIRT000053 hsa-miR-375 Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 19807270
MIRT000053 hsa-miR-375 Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 19807270
MIRT020870 hsa-miR-155-5p Proteomics 18668040
MIRT028557 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11956200, 25416956, 25910212, 32296183, 32814053
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005758 Component Mitochondrial intermembrane space IDA 14726512
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300356 11817 ENSG00000126953
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O60220
Protein name Mitochondrial import inner membrane translocase subunit Tim8 A (Deafness dystonia protein 1) (X-linked deafness dystonia protein)
Protein function Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02953 zf-Tim10_DDP 21 → 83 Tim10/DDP family zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.
Sequence
Sequence length 97
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Agammaglobulinemia Agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392
View all (17 more)
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
Show/Hide Text Mining Associations (23)
Associations from Text Mining
Disease Name Relationship Type References
Auditory neuropathy Associate 30634948
Blindness Associate 31682224
Breast Neoplasms Associate 36207751, 40419670
Bruton type agammaglobulinemia Associate 33013854
Carcinoma Hepatocellular Associate 33013854, 36918874
Carcinoma Non Small Cell Lung Associate 30999114, 35363093
Carcinoma Non Small Cell Lung Inhibit 36691322
Chromosome Deletion Associate 33013854
Deafness Associate 30634948, 31992338
Dystonia Associate 31682224, 33013854, 40597358