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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dolichocephaly Likely pathogenic rs730882244 RCV000162180
Intellectual disability Likely pathogenic rs730882244 RCV000162180
Macrocephaly Likely pathogenic rs730882244 RCV000162180
Mild obesity Likely pathogenic rs730882244 RCV000162180
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 29228969
Hepatitis C Associate 29228969
Liver Cirrhosis Biliary Inhibit 36825008