Gene Gene information from NCBI Gene database.
Entrez ID 65084
Gene name Transmembrane protein 135
Gene symbol TMEM135
Synonyms (NCBI Gene)
PMP52
Chromosome 11
Chromosome location 11q14.2
miRNA miRNA information provided by mirtarbase database.
478
miRTarBase ID miRNA Experiments Reference
MIRT018717 hsa-miR-335-5p Microarray 18185580
MIRT026055 hsa-miR-196a-5p Sequencing 20371350
MIRT032182 hsa-let-7d-5p Sequencing 20371350
MIRT571132 hsa-miR-548av-3p PAR-CLIP 20371350
MIRT571131 hsa-miR-548g-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0002082 Process Regulation of oxidative phosphorylation IEA
GO:0003406 Process Retinal pigment epithelium development IEA
GO:0005319 Function Lipid transporter activity IEA
GO:0005515 Function Protein binding IPI 33961781
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
616360 26167 ENSG00000166575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UB9
Protein name Transmembrane protein 135 (Peroxisomal membrane protein 52) (PMP52)
Protein function Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15982 TMEM135_C_rich 9 142 N-terminal cysteine-rich region of Transmembrane protein 135 Domain
PF02466 Tim17 250 359 Family
Sequence
MAALSKSIPHNCYEIGHTWHPSCRVSFLQITGGALEESLKIYAPLYLIAAILRKRKLDYY
LHKLLPEILQSASFLTANGALYMAFFCILRKILGKFYSWTPGFGAALPASYVAILIERKS
RRGLLTIYMANLATETLFRMGV
ARGTITTLRNGEVLLFCITAAMYMFFFRCKDGLKGFTF
SALRFIVGKEEIPTHSFSPEAAYAKVEQKREQHEEKPGRMNMIGLVRKFVDSICKHGPRH
RCCKHYEDNCISYCIKGFIRMFSVGYLIQCCLRIPSAFRHLFTQPSRLLSLFYNKENFQL
GAFLGSFVSIYKGTSCFLRWIRNLDDELHAIIAGFLAGISMMFYKSTTISMYLASKLVE
T
MYFKGIEAGKVPYFPHADTIIYSISTAICFQAAVMEVQTLRPSYWKFLLRLTKGKFAVMN
RKVLDVFGTGASKHFQDFIPRLDPRYTTVTPELPTEFS
Sequence length 458
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
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
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA 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
Breast Neoplasms Breast neoplasm Pubtator 22087758, 22362584 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 30102730
★☆☆☆☆
Found in Text Mining only
Giant Cell Glioblastoma Giant Cell Glioblastoma CTD_human_DG 30705370
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma CTD_human_DG 30705370
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme Glioblastoma CTD_human_DG 30705370
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation CTD_human_DG 21937992
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate Prostate cancer BEFREE 28459452
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 29706638 Associate
★☆☆☆☆
Found in Text Mining only
Mental deficiency Mental retardation CTD_human_DG 21937992
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 22087758
★☆☆☆☆
Found in Text Mining only