Gene Gene information from NCBI Gene database.
Entrez ID 8269
Gene name Transmembrane protein 187
Gene symbol TMEM187
Synonyms (NCBI Gene)
CXorf12DXS9878EITBA1
Chromosome X
Chromosome location Xq28
Summary This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]
miRNA miRNA information provided by mirtarbase database.
32
miRTarBase ID miRNA Experiments Reference
MIRT029254 hsa-miR-26b-5p Microarray 19088304
MIRT1433877 hsa-miR-147 CLIP-seq
MIRT1433878 hsa-miR-148a CLIP-seq
MIRT1433879 hsa-miR-148b CLIP-seq
MIRT1433880 hsa-miR-152 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IEA
GO:0030133 Component Transport vesicle IBA
GO:0030133 Component Transport vesicle IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300059 13705 ENSG00000177854
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14656
Protein name Transmembrane protein 187 (Protein ITBA1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15100 TMEM187 8 245 TMEM187 protein family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 261
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)
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
CELIAC DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
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
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 28271077 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31323913
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease GWASDB_DG 22057235, 23143596
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Celiac Disease Celiac disease GWASCAT_DG 22057235
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Celiac Disease Celiac disease Pubtator 26859134, 38072919 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic Lupus Erythematosus BEFREE 22904263
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 37710308 Associate
★☆☆☆☆
Found in Text Mining only
Pervasive Development Disorder Autism spectrum disorder BEFREE 31323913
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 23143596
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis Rheumatoid arthritis GWASCAT_DG 23143596
★★☆☆☆
Found in Text Mining + Unknown/Other Associations