Gene Gene information from NCBI Gene database.
Entrez ID 150864
Gene name Family with sequence similarity 117 member B
Gene symbol FAM117B
Synonyms (NCBI Gene)
ALS2CR13
Chromosome 2
Chromosome location 2q33.2
miRNA miRNA information provided by mirtarbase database.
611
miRTarBase ID miRNA Experiments Reference
MIRT003728 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT045030 hsa-miR-186-5p CLASH 23622248
MIRT045030 hsa-miR-186-5p HITS-CLIP 23824327
MIRT628235 hsa-miR-3133 HITS-CLIP 23824327
MIRT606966 hsa-miR-6867-5p HITS-CLIP 23824327
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 15778465, 25416956, 26496610, 27173435, 28514442, 31515488, 32296183, 32814053, 33961781, 35271311, 36931259
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P1L5
Protein name Protein FAM117B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15388 FAM117 215 529 Protein Family FAM117 Family
Sequence
MSQRVRRNGSPTPAGSLGGGAVATAGGPGSRLQPMRATVPFQLKQQQQQQHGSPTRSGGG
GGGNNNGGCCGGASGPAGGGGGGGPRTASRSTSPTRGGGNAAARTSPTVATQTGASATST
RGTSPTRSAAPGARGSPPRPPPPPPLLGTVSSPSSSPTHLWTGEVSAAPPPARVRHRRRS
PEQSRSSPEKRSPSAPVCKAGDKTRQPSSSPSSIIRRTSSLDTLAAPYLAGHWPRDSHGQ
AAPCMRDKATQTESAWAEEYSEKKKGSHKRSASWGSTDQLKEIAKLRQQLQRSKHSSRHH
RDKERQSPFHGNHAAINQCQAPVPKSALIPVIPITKSTGSRFRNSVEGLNQEIEIIIKET
GEKEEQLIPQDIPDGHRAPPPLVQRSSSTRSIDTQTPGGADRGSNNSSRSQSVSPTSFLT
ISNEGSEESPCSADDLLVDPRDKENGNNSPLPKYATSPKPNNSYMFKREPPEGCERVKVF
EECSPKQLHEIPAFYCPDKNKVNFIPKSGSAFCLVSILKPLLPTPDLTL
KGSGHSLTVTT
GMTTTLLQPIAVASLSTNTEQDRVSRGTSTVMPSASLLPPPEPIEEAEG
Sequence length 589
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
IRRITABLE BOWEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION 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
Cerebral Small Vessel Diseases Cerebral microangiopathy Pubtator 31430377 Associate
★☆☆☆☆
Found in Text Mining only
Sarcoidosis Sarcoidosis GWASCAT_DG 26051272
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoidosis Sarcoidosis Pubtator 26051272 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations