C4orf54 (chromosome 4 open reading frame 54)

Gene Gene information from NCBI Gene database.
Gene Other IDs Protein Associated diseases
Entrez ID 285556
Gene name Chromosome 4 open reading frame 54
Gene symbol C4orf54
Synonyms (NCBI Gene)
FOPV
Chromosome 4
Chromosome location 4q23
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617881 27741 ENSG00000248713
Protein Protein information from UniProt database.
Gene Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
D6RIA3
Protein name Uncharacterized protein C4orf54 (Familial obliterative portal venopathy)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15232 DUF4585 1604 → 1673 Domain of unknown function (DUF4585) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in muscle, heart, kidney and liver but barely detectable in lung, pancreas and brain. In liver veins, expressed in hepatic vein, extrahepatic portal vein and intrahepatic portal vein. {ECO:0000269|PubMed:28792652}.
Sequence 
MLSFHFWKSRGQPTDAASSVADGIQTPRCCRRCQANNWTGQLSYRTLATVSAGAAAPQPQ
TTSTASSRSLPTSLRLAAAPPQGLKNWEVVAAVAAVPTALGPVQIRGTLLRATLQPLRGQ
RRTQDFPSDHHCLFLSLKPGQGLIMEAAPPELNSKARQAEVGDGVSSAQDSQELKQQLWP
LPKPSASSQREAKYVDMCASAEVQRESPQTMKLTLGHCPGGQRASRSPKEKAQDEPSSKT
PSPQNNPASSQLSRSQHSASEEGGNFSSSSSSSPMNKAEEDGLSKMEDSTTSTGALATSS
SSLGFESESGESEGCQAVGGEGEKISGGGGGGKGGGGGGAGDGTECRDIIAKSQGSRDPP
KVEEAHYITTHEIQLSEVEQDMDFDVGLASRWDFEDNNVIYSFVDYASFGGSDETPGDIT
SLTEEDDDNSCYLSTTPSTNTTRTPSPTSSDLARPNAGRSGRDTSSTEVGSGPSDSGPTP
PPTGPGTAPLTEPLPETPEAASGAAAAAASSCGSAASQILLSIKPASRAINEPSNVRAKQ
NIIYAAKHEGDMSLRVSTAAEHNSSSLKQNPAAAVAQDHAKKFIAVPARLQTRCGAIRAK
ELVDYSSGASSAVSELDDADKEVRNLTSRAFRSLAYPYFEALNISSRESSTTLSEVGFGR
WSTFLDLKCGGVGARVEQSLLRSSAASVAAGLRKGSGARATADQLYIQSKKSQTKALEFV
VSKVEGEIKHVETPLCFQKQVQTGSRVVTLLEPLNVRSESKASSAPGPGRATKGPGKGPG
SAYTDDGSETSEGSKPTSRADGPQKSKFASSLLKNVISKKMQREHEFKMERGEVMDTSHH
LSGTSKETEGARGSERQRERGLQRQSSRHSEAGSEYTVVSMSDAGGEGSVAGSKSPVFKA
STPRERNAGPGRNFTDGHTEVCEIKKSASETVKGIFLRSQNSAFRSWKEKEAEKREEQAP
IGKLKLPKGGDWRADLGEISASKNTIMSRLFVPNIQQTPKDKQPRKQATKYPAAQATSTA
VIRPKAPEIKIRLGSVQQPSSDFNIAKLLTPKLAGGSASNLFKTIEDNSRAQQKLFRGDN
LEKVPHFQVRDIRDKSKAQGPLHQVRDVRKLIKGSGDSSDKGSVTPEQGLTGPKPRQLSA
AAGGSGSLSPMVITCQAVVNQREDSMDREPRESMGKGGGSRVLNSSSPEGTVLVHRASGR
LPVATIAPNKPEQGSYLPVLKIVSKASTQKTPEKLKEEEVKEEGKATKPARNALEKLTAA
VRSMEELYSFNRNEWKRKSDPLPMMMDSHVLSLIASEEREGVVVADGDHDKLSKRLGEVE
ERGTGNKAGVVLRGAPIERLQRRNSNPSAESVSARAAAFENLARERPRSLYIPPVHKDVE
RTQPLQPLPPLPSNRNVFTVSASSIQKTGGVAGKFPQGPSPESPSAAKGIKSQGLRSLKI
SPATRAPPDEVTNRKSGSNLEKSNSDCENYLTIPLKGSSAAGELLSRPGASREGPPNSSA
ATLCSLPPLSARSQVPSSSKGSQVSGTSRPAWRTKPDNPRETVAAPPGPQSPEHPPTTIY
HQPPLPFTLQGAQPQVLCFSPPSMPAPAPAASAPVPTDPFQQAQPQQTQRKMLLDVTTGQ
YYLVDTPVQPMTRRLFDPETGQYVDVPMTSQQQAVAPMSISVPPLALSPGAYGPTYMIYP
GFLPTVLPTNALQPTPIARAPRGSELSPMVAEPSSKEAAATFTEAPYFMASGQSPASSTS
SAPAATSQLLGAKAFAQLHGKPVISITSQPLGPRIIAPPSFDGTTMSFVVEHR
Sequence length 1793
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene 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 (2)
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
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations