Gene Gene information from NCBI Gene database.
Entrez ID 283635
Gene name Family with sequence similarity 177 member A1
Gene symbol FAM177A1
Synonyms (NCBI Gene)
C14orf24NEDWMG
Chromosome 14
Chromosome location 14q13.2
Summary This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs730882244 ->A Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
311
miRTarBase ID miRNA Experiments Reference
MIRT020986 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT021622 hsa-miR-142-3p Microarray 17612493
MIRT002702 hsa-miR-124-3p Microarray 18668037
MIRT002702 hsa-miR-124-3p Microarray 15685193
MIRT045179 hsa-miR-186-5p CLASH 23622248
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 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619181 19829 ENSG00000151327
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N128
Protein name Protein FAM177A1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14774 FAM177 39 154 FAM177 family Family
Sequence
MDQEPVGGVERGEAVAASGAAAAAAFGESAGQMSNERGFENVELGVIGKKKKVPRRVIHF
VSGETMEEYSTDEDEVDGLEKKDVLPTVDPTKLTWGPYLWFYMLRAATSTLSVCDFLGEK
IASVLGISTPKYQYAIDEYYRMKKEEEEEEEENR
MSEEAEKQYQQNKLQTDSIVQTDQPE
TVISSSFVNVNFEMEGDSEVIMESKQNPVSVPP
Sequence length 213
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dolichocephaly Likely pathogenic rs730882244 RCV000162180
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic rs730882244 RCV000162180
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly Likely pathogenic rs730882244 RCV000162180
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild obesity Likely pathogenic rs730882244 RCV000162180
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER 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
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASCAT_DG 29121268
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 29228969 Associate
★☆☆☆☆
Found in Text Mining only
Cholangitis, Sclerosing Cholangitis GWASCAT_DG 26974007
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASCAT_DG 26974007
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis GWASCAT_DG 26482879
★☆☆☆☆
Found in Text Mining only
Hepatitis C Hepatitis c Pubtator 29228969 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis BEFREE 20136554
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Biliary Liver cirrhosis Pubtator 36825008 Inhibit
★☆☆☆☆
Found in Text Mining only
Long narrow head Dolichocephaly CLINVAR_DG
★☆☆☆☆
Found in Text Mining only