FAM187A (family with sequence similarity 187 member A)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 100528020
Gene name Family with sequence similarity 187 member A
Gene symbol FAM187A
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q21.31
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT018974 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
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.
A6NFU0
Protein name Ig-like V-type domain-containing protein FAM187A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 45 → 139 Immunoglobulin V-set domain Domain
Sequence 
MHLALTTVLLWAWGLQAFEIVEKENIFQRTPCPAFLMFENAAYLADMSFELPCHCKPEEV
PAVVWFYQKHLGSSHTKVLTDFDGRVLTEAAQVRVGSDMLTRFSIRMFSLLVFRAQSEDS
GLYFCGTRKGDYFYAYDVDIQNSEGMVATFQDKGQEPFADEYYGHLHVFTTFWEWTPCDR
CGVRGEQWRIGLCYLQSPDLSPRYLKAVPDVVSCGSRAVPRKLRTKARDHTPEVLVRSCL
VPCEKTKTIREGVLAIINYVSKVGSRPWVPQVPIQFHQQRLGHGLIISCPGARPEHAVAW
DKDRQHLYRTQYLKGVNRSMRVFIDHGNQLHIRFTQLDDRGIYYCWRQGVLVAGFRLGVT
SHGHYPASFSDPETRSAVELTLIGYLLITAVFVTIHFCRCCCYLFHCCPSFSP
Sequence length 413
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 (2)
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
CILIARY DYSKINESIA, PRIMARY, 17 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Ciliary Dyskinesia CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 17 Ciliary dyskinesia CLINVAR_DG 22581229, 24357714, 26123568, 27637300, 28790179
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders Ciliary dyskinesia CLINVAR_DG 22581229, 23891469, 24357714, 26123568, 27637300, 28790179
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Situs inversus totalis Situs Inversus CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only