Gene Gene information from NCBI Gene database.
Entrez ID 83648
Gene name Family with sequence similarity 167 member A
Gene symbol FAM167A
Synonyms (NCBI Gene)
C8orf13D8S265DIORA-1
Chromosome 8
Chromosome location 8p23.1
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs886037620 G>A Pathogenic Intron variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
127
miRTarBase ID miRNA Experiments Reference
MIRT023167 hsa-miR-124-3p Microarray 18668037
MIRT024071 hsa-miR-1-3p Microarray 18668037
MIRT981608 hsa-miR-1207-5p CLIP-seq
MIRT981609 hsa-miR-1299 CLIP-seq
MIRT981610 hsa-miR-142-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 28514442, 31515488, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610085 15549 ENSG00000154319
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96KS9
Protein name Protein FAM167A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11652 FAM167 130 214 FAM167 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skin, including primary keratinocytes, spleen, kidney, leukocytes, testis, lung, small intestine and prostate. {ECO:0000269|PubMed:11896452}.
Sequence
MSVPQIHVEEVGAEEGAGAAAPPDDHLRSLKALTEKLRLETRRPSYLEWQARLEEHTWPF
PRPAAEPQASLEEGERGGQEPLLPLREAGQHPPSARSASQGARPLSTGKLEGFQSIDEAI
AWLRKELTEMRLQDQQLARQLMRLRGDINKLKIEHTCRLHRRMLNDATYELEERDELADL
FCDSPLASSFSLSTPLKLIGVTKMNINSRRFSLC
Sequence length 214
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME 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
Adult type dermatomyositis Dermatomyositis BEFREE 24632671, 25846585
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 27088737
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21765104 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27088737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 23635951, 23899688, 27105348
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 24632671, 29207374 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 33510822 Associate
★☆☆☆☆
Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome 11p11.2 Deletion Syndrome BEFREE 23899688
★☆☆☆☆
Found in Text Mining only
Cutaneous Mastocytosis Cutaneous mastocytosis BEFREE 15111509
★☆☆☆☆
Found in Text Mining only
Dermatomyositis Dermatomyositis BEFREE 24632671, 25846585
★☆☆☆☆
Found in Text Mining only