Gene Gene information from NCBI Gene database.
Entrez ID 1678
Gene name Translocase of inner mitochondrial membrane 8A
Gene symbol TIMM8A
Synonyms (NCBI Gene)
DDPDDP1DFN1MTSTIM8
Chromosome X
Chromosome location Xq22.1
Summary 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.
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.
648
miRTarBase ID miRNA Experiments Reference
MIRT000053 hsa-miR-375 Luciferase reporter assay 19734348
MIRT000053 hsa-miR-375 ImmunohistochemistryLuciferase reporter assayMicroarrayNorthern blotqRT-PCR 19807270
MIRT000053 hsa-miR-375 ImmunohistochemistryLuciferase reporter assayMicroarrayNorthern blotqRT-PCR 19807270
MIRT020870 hsa-miR-155-5p Proteomics 18668040
MIRT028557 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11956200, 25416956, 25910212, 32296183, 32814053, 33961781
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300356 11817 ENSG00000126953
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Deafness dystonia syndrome Pathogenic; Likely pathogenic rs2147418146, rs2147416060, rs2147416123, rs2520471010, rs869320664, rs869320733, rs111033631, rs80356560, rs869320665, rs1054894, rs869320666, rs869320667, rs80356559, rs1602996815 RCV001822907
RCV001823287
RCV002246773
RCV003128443
RCV000012070
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1 Pathogenic rs1926076502 RCV005909309
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Auditory neuropathy Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
DYSTONIA DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25884180
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 31470848
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29236090
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30849593
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24921914, 27014910, 27373420, 27392028, 27733346, 31593828
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 31203805
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 31411239
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 25884180
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 29507530
★☆☆☆☆
Found in Text Mining only