FAM47C (family with sequence similarity 47 member C)

Gene Gene information from NCBI Gene database.
Gene miRNA Other IDs Protein Associated diseases
Entrez ID 442444
Gene name Family with sequence similarity 47 member C
Gene symbol FAM47C
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xp21.1
Summary This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011]
miRNA miRNA information provided by mirtarbase database.
10
Gene miRNA Other IDs Protein Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT017140 hsa-miR-335-5p Microarray 18185580
MIRT985448 hsa-miR-1343 CLIP-seq
MIRT985449 hsa-miR-181a CLIP-seq
MIRT985450 hsa-miR-181b CLIP-seq
MIRT985451 hsa-miR-181c CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
301067 25301 ENSG00000198173
Protein Protein information from UniProt database.
Gene miRNA Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5HY64
Protein name Putative protein FAM47C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14642 FAM47 1 → 257 FAM47 family Family
PF14642 FAM47 255 → 317 FAM47 family Family
PF14642 FAM47 305 → 365 FAM47 family Family
PF14642 FAM47 366 → 437 FAM47 family Family
PF14642 FAM47 427 → 485 FAM47 family Family
PF14642 FAM47 483 → 557 FAM47 family Family
PF14642 FAM47 548 → 617 FAM47 family Family
PF14642 FAM47 596 → 665 FAM47 family Family
PF14642 FAM47 665 → 737 FAM47 family Family
PF14642 FAM47 736 → 808 FAM47 family Family
Sequence 
MGDQRPQDRPSSPGMDSTPWYCDKPPSKYFAKRKHRRLRFPPVDTQNWVFVTEGMDDFRY
GCQSPEDTLVCRRDEFLLPKISLRGPQADPKSRKKKLLKKAALFSKLSPAQPARKAFVEE
VEAQLMTKHPLAMYPNLGEDMPPDLLLQVLKPLDPERKLEDAGSCEGQEKTTDEPTEPGK
YPCGEFSPRPPETRVSCLPPEPPKTPVSSLRPEPPETGVSHLRPQPPKTQVSSLHLEPPE
TGVSHLRPEPPKTQVSSLHLEPPETGVSHLYLEPPGTGVSHLCPEPPKTRVSHLHREPPE
TGVPDLCLEPPKSRVSHLRPEPSETGVSHLHPEPPKTLVSSLHPEPPETGVSHLCPEPPE
TRVSPLRQLPPEAGVSHLCPEPPKTRVPPLRPETPKNGVSPLFPEPPKTRISNLRSEPPK
IGVSHLCLEPPKTRGSHLRPEPPETGVSHLRPEPPKTRVSSLHLEPPETGVSHLCPEPPE
KDVSHLRPEPPDTGVSHLCPEPPKTRVSHLRPEPSETGVSHLRPEPPKILVSSLHQAPPE
SSVSHLRPEPPETGVSHLRPEPPKTRMYSLRPEPPDTGVSHLCPEPPKTRVSSLPPEPPE
TGVSHLCPEPPETRVSHLRPEPPETGVSHLRPEPPKTRMYSLRPEPPNTGVSHLCPEPPK
TRVSSLPPEPPETGVSHLCPEPPETRVSHLRPEPPETGVSRLHPEPPKTRVSSLHAEPPE
SRVSHLCPEPPETGVSHLRPEPPKPRVSSLRPEPLETRVSHLRPEPPETGVSHLHPELPK
PRVSSLHLEPPKTRRVSSLRLEPPKTGRVSSLCPEPTKTGASHLKELFQEGTSSTMECVS
DSLQRRHTSRKLRDFKWAGDLGVNEESISSLFDFTPECRATYQDQKNKKANECSSGLKYS
MELDEMDEVKFFSQEKDLDGKIQNAPNSHSAQHVKMGYGAWYLKPKLGKKLRSDEPLIDP
KLVLEKPDEPDILDGLYGPIAFKDFILSKGYEMPGIIQRLFARRGWTYDSVKTPIQRAMQ
VYKYKEDVTDASEED
Sequence length 1035
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA 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 (1)
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
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 36017582 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Infertility Pubtator 36017582 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Oligospermia Oligospermia BEFREE 30922974
★★★★★
★☆☆☆☆
Found in Text Mining only
Varicocele Varicocele BEFREE 30922974
★★★★★
★☆☆☆☆
Found in Text Mining only