TMEM98 (transmembrane protein 98)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 26022
Gene name Transmembrane protein 98
Gene symbol TMEM98
Synonyms (NCBI Gene)
TADA1
Chromosome 17
Chromosome location 17q11.2
Summary This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs587777690 G>C,T Pathogenic Coding sequence variant, missense variant
rs869312733 A>C Pathogenic Missense variant, coding sequence variant
rs869312734 AGAATGAAGACTGGATCGAAGATGCCTCGTAAGG>- Pathogenic Coding sequence variant, splice donor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
163
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (163)
miRTarBase ID miRNA Experiments Reference
MIRT044487 hsa-miR-320a CLASH 23622248
MIRT044487 hsa-miR-320a CLASH 23622248
MIRT043661 hsa-miR-342-3p CLASH 23622248
MIRT042183 hsa-miR-484 CLASH 23622248
MIRT344723 hsa-miR-577 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 25946230
GO:0005615 Component Extracellular space IEA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615949 24529 ENSG00000006042
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2Y6
Protein name Transmembrane protein 98 (Protein TADA1)
Protein function Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination. Interacts with the C-terminal of MYRF inhibiting MYRF self-cleavage and N-fragment nuclear translocation. The secreted form promotes differentiation of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13324 GCIP 41 → 170 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high expression in the ovary, pancreas and prostate (PubMed:25946230). Expressed in the eye, particularly in corneal endothelium, iris, ciliary body, sclera, optic nerve, optic nerve head, and retina (PubMed:24852
Sequence 
METVVIVAIGVLATIFLASFAALVLVCRQRYCRPRDLLQRYDSKPIVDLIGAMETQSEPS
ELELDDVVITNPHIEAILENEDWIEDASGLMSHCIAILKICHTLTEKLVAMTMGSGAKMK
TSASVSDIIVVAKRISPRVDDVVKSMYPPLDPKLLDARTTALLLSVSHLVLVTRNACHLT
GGLDWIDQSLSAAEEHLEVLREAALASEPDKGLPGPEGFLQEQSAI
Sequence length 226
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nanophthalmos 4 Pathogenic rs587777690, rs869312733, rs869312734 RCV000143786
RCV000210025
RCV000209982
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TMEM98-related disorder Likely benign; Benign rs150239100, rs72817027, rs201959602 RCV003897128
RCV003974374
RCV003912208
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 20855955
Aicardi Goutieres syndrome Associate 32996714
Carcinoma Non Small Cell Lung Associate 26884835
Hyperopia Associate 33203948
Lung Neoplasms Inhibit 26884835
Microphthalmos Associate 32052405
Nanophthalmos 1 Associate 26392740, 32052405, 33004036, 33203948
Neoplasms Inhibit 35866395
Ovarian Neoplasms Inhibit 35866395