TMEM248 (transmembrane protein 248)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 55069
Gene name Transmembrane protein 248
Gene symbol TMEM248
Synonyms (NCBI Gene)
C7orf42
Chromosome 7
Chromosome location 7q11.21
miRNA miRNA information provided by mirtarbase database.
63
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (63)
miRTarBase ID miRNA Experiments Reference
MIRT023022 hsa-miR-124-3p Microarray 18668037
MIRT030084 hsa-miR-26b-5p Microarray 19088304
MIRT046867 hsa-miR-221-3p CLASH 23622248
MIRT698223 hsa-miR-541-5p HITS-CLIP 23313552
MIRT698221 hsa-miR-4690-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene 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.
Q9NWD8
Protein name Transmembrane protein 248
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14940 TMEM219 10 → 257 Transmembrane 219 Family
Sequence
Sequence length 314
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
KERATOCONUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations