Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83648
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 167 member A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM167A
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf13, D8S265, DIORA-1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs886037620 G>A Pathogenic Intron variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 28514442, 31515488, 32296183, 32814053, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610085 15549 ENSG00000154319
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Aortic Valve Sclerosis Aortic valve stenosis N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 21765104
Autoimmune Diseases Associate 24632671, 29207374
Carcinoma Renal Cell Associate 33510822
Dermatomyositis Associate 24632671, 25846585
Lung Diseases Interstitial Associate 25846585
Lupus Erythematosus Systemic Associate 18204098, 19180478, 19442287, 19796918, 20131239, 21765104, 21792837, 23049788, 28289186, 29070082, 34952359
Lupus Nephritis Associate 23049788
Myositis Associate 25846585
Polymyositis Associate 24632671, 25846585
Scleroderma Systemic Associate 19796918, 20131239