FAM47A (family with sequence similarity 47 member A)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 158724
Gene name Family with sequence similarity 47 member A
Gene symbol FAM47A
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xp21.1
miRNA miRNA information provided by mirtarbase database.
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT985441 hsa-miR-548a-3p CLIP-seq
MIRT985442 hsa-miR-548e CLIP-seq
MIRT985443 hsa-miR-548f CLIP-seq
MIRT985444 hsa-miR-570 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JRC9
Protein name Protein FAM47A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14642 FAM47 1 → 259 FAM47 family Family
PF14642 FAM47 256 → 373 FAM47 family Family
PF14642 FAM47 370 → 423 FAM47 family Family
PF14642 FAM47 419 → 542 FAM47 family Family
PF14642 FAM47 512 → 579 FAM47 family Family
Sequence 
MGDQRLQDWLRSPGMDSKPWYCNKRPSKCFAKCKHRRLRFPPMDTQNWVFVKEGMDDFRY
GCPSPEDTLVCRRDEFLLPKISLRGPQADPKSGQKKLLKKAALFSKLSPAQLARKAFVEQ
VEAQLMAKHPLAMYPNLGEDMPPDLLLQVLKHLDPERELEDAWACCETQEKTTEVPTEPG
KHPCGEFCLKPPETPVSHLLPEPPETGVSHLSPEPPKTPVSSLRPEPPETGVSHLRPEPP
ETGVSHIRPGPPITRRRSSLLRQLLKLDSERKLEDARAPCEGREKTTDEPTEPGKYPCGK
FCPRPFETPLSHLRQEPPKTPVSSLRPEPPETGESHLRLEHSKTRRGSSLRSEPSETGVS
RLRLAPPKTRRGSSLHAEPSKTGVSHLSPEPPKTEVSHLHPVPPKTGVCHLRLEPPDTSQ
VSNLLLYILKVLDSGRTLKDVWDRCEARVKKTKEPTEPHKSPCGEPCLQPPETQVSHPHP
EHPKTRRRSSLHSQPPKTRRTSSLRSEPPKTRRTSSLRSEPPKTRRTSSLGPEPPKTRRV
SSLRPELPKSRRVSSLHPEPPKAPESHQFSEPPKIRASYIKELLQEDTPSTKECVSDSLQ
YRYTSEKLREFFKWAGDLGADEESIRNLFDFTPKYRATHEDQKFKKVKECSSELKYSMEL
DEKDEDKFFSQEKYWGRKFHTPSNSYTAQRVKMKYGAWYLKPKLWKKLRSDEPLIDPKLL
LKKPDEPDVLDDLYGPIAFKDFILSKGYEMPGIIQRLFARRGWTYDSVKTPIQRAMIFYK
YKEIVEASEED
Sequence length 791
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (10)
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
Abnormality of neuronal migration Benign; Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAM47A-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intellectual disability Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations