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C4orf54 chromosome 4 open reading frame 54 [ Homo sapiens (human) ]

Gene ID: 285556, updated on 5-Aug-2022

Summary

Official Symbol
C4orf54provided by HGNC
Official Full Name
chromosome 4 open reading frame 54provided by HGNC
Primary source
HGNC:HGNC:27741
See related
Ensembl:ENSG00000248713 MIM:617881; AllianceGenome:HGNC:27741
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FOPV
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See C4orf54 in Genome Data Viewer
Location:
4q23
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99636529..99657828, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102951958..102973264, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100557686..100578985, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene tRNA methyltransferase 10A Neighboring gene microsomal triglyceride transfer protein Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides 1 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

EBI GWAS Catalog

Description
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
uncharacterized protein C4orf54
Names
familial obliterative portal venopathy

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001354435.2NP_001341364.1  uncharacterized protein C4orf54

    Status: VALIDATED

    Source sequence(s)
    AC083902
    Consensus CDS
    CCDS87246.1
    UniProtKB/Swiss-Prot
    D6RIA3
    Related
    ENSP00000427555.1, ENST00000511828.2
    Conserved Domains (1) summary
    pfam15232
    Location:16101672
    DUF4585; Domain of unknown function (DUF4585)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    99636529..99657828 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_373030.12XP_373030.5  uncharacterized protein C4orf54 isoform X1

    See identical proteins and their annotated locations for XP_373030.5

    Conserved Domains (1) summary
    pfam15232
    Location:16431705
    DUF4585; Domain of unknown function (DUF4585)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    102951958..102973264 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)