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C5orf56 chromosome 5 open reading frame 56 [ Homo sapiens (human) ]

Gene ID: 441108, updated on 25-Apr-2018

Summary

Official Symbol
C5orf56provided by HGNC
Official Full Name
chromosome 5 open reading frame 56provided by HGNC
Primary source
HGNC:HGNC:33838
See related
Vega:OTTHUMG00000059493
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
Expression
Ubiquitous expression in spleen (RPKM 7.3), lung (RPKM 5.1) and 24 other tissues See more
Orthologs

Genomic context

See C5orf56 in Genome Data Viewer
Location:
5q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (132410773..132476044)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131746465..131811736)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MIR3936 host gene Neighboring gene microRNA 3936 Neighboring gene solute carrier family 22 member 5 Neighboring gene uncharacterized LOC102723741 Neighboring gene interferon regulatory factor 1 Neighboring gene interleukin 5

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 Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
NHGRI GWA Catalog
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
NHGRI GWA Catalog
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
NHGRI GWA Catalog
Genome-wide association study to identify genetic determinants of severe asthma.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
NHGRI GWA Catalog

General gene information

Markers

Potential readthrough

Included gene: RAD50

Homology

Clone Names

  • FLJ21568, FLJ26121

General protein information

Preferred Names
uncharacterized protein C5orf56

NCBI Reference Sequences (RefSeq)

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_001207001.2NP_001193930.1  uncharacterized protein C5orf56

    Status: VALIDATED

    Source sequence(s)
    AC116366

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    132410773..132476044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001013717.2: Suppressed sequence

    Description
    NM_001013717.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
  2. NM_001207002.1: Suppressed sequence

    Description
    NM_001207002.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
  3. NM_001207003.1: Suppressed sequence

    Description
    NM_001207003.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
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