Gene Gene information from NCBI Gene database.
Entrez ID 131583
Gene name Family with sequence similarity 43 member A
Gene symbol FAM43A
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q29
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT493905 hsa-miR-4781-5p PAR-CLIP 20371350
MIRT493906 hsa-let-7a-5p PAR-CLIP 20371350
MIRT493904 hsa-let-7b-5p PAR-CLIP 20371350
MIRT493903 hsa-let-7c-5p PAR-CLIP 20371350
MIRT493902 hsa-let-7d-5p PAR-CLIP 20371350
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
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.
Q8N2R8
Protein name Protein FAM43A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14719 PID_2 69 256 Phosphotyrosine interaction domain (PTB/PID) Domain
Sequence
MLPWKKHKFELLAEAPPRQASKPKGYAVSLHYSALSSLARACPEGALSRVGSMFRSKRKK
LHITSEDPTYTVLYLGNATTIQARGDGCTDLAVGKIWSKSEAGRQGTKMKLTVSAQGIRM
VHAEERALRRPGHLYLLHRVTYCVADARLPKVFAWVYRHELKHKAVMLRCHAVLVSKPEK
AQAMALLLYQTSANALAEFKRLKRRDDARHQQQELVGAHTIPLVPLRKLLLHGPCCYKPP
VERSRSAPKLGSITED
LLGEQLEQELQEEEEEEQPEGCPEEEENRAAEGDPAEEEAEAQR
ALVVAMHFECGDLLDTLENGRGEALGGGGGSLGPGAGPPPLLLGSASDMKAELSQLISDL
GELSFGNDVRTLQADLRVTRLLSGDSTGSESSIEGGGPDATSATAGDSSRQADGASADEP
HSG
Sequence length 423
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
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
Autistic Disorder Autism BEFREE 24801482
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 24801482 Associate
★☆☆☆☆
Found in Text Mining only
Learning Disabilities Learning disorders Pubtator 24801482 Associate
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 22140552 Associate
★☆☆☆☆
Found in Text Mining only