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C5orf22 chromosome 5 open reading frame 22 [ Homo sapiens (human) ]

Gene ID: 55322, updated on 29-Mar-2023

Summary

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Official Symbol
C5orf22provided by HGNC
Official Full Name
chromosome 5 open reading frame 22provided by HGNC
Primary source
HGNC:HGNC:25639
See related
Ensembl:ENSG00000082213 AllianceGenome:HGNC:25639
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 brain (RPKM 6.1), colon (RPKM 5.1) and 25 other tissues See more
Orthologs
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Genomic context

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See C5orf22 in Genome Data Viewer
Location:
5p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (31532301..31555053)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (31646012..31668762)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (31532408..31555160)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene drosha ribonuclease III Neighboring gene Sharpr-MPRA regulatory region 6191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:31493720-31494220 Neighboring gene RNA, U6 small nuclear 363, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:31680333-31680851 Neighboring gene PDZ domain containing 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. A Proteomic Connectivity Map for Characterizing the Tumor Adaptive Response to Small Molecule Chemical Perturbagens. Zi Z, et al. ACS Chem Biol, 2020 Jan 17. PMID 31846293, Free PMC Article
  2. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
  3. FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells. Habel N, et al. Cell Death Differ, 2021 Jun. PMID 33462405, Free PMC Article
  4. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
  5. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article

See all (23) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Proteomic Connectivity Map for Characterizing the Tumor Adaptive Response to Small Molecule Chemical Perturbagens.
    Title: A Proteomic Connectivity Map for Characterizing the Tumor Adaptive Response to Small Molecule Chemical Perturbagens.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11193, FLJ23805, MGC33010, DKFZp667N066

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
UPF0489 protein C5orf22

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_018356.3 → NP_060826.2  UPF0489 protein C5orf22

    See identical proteins and their annotated locations for NP_060826.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the protein.
    Source sequence(s)
    AI300780, AK074385, AV710784, BC021215, BM683466, DA783320
    Consensus CDS
    CCDS3895.1
    UniProtKB/Swiss-Prot
    Q49AR2, Q9NUR1
    UniProtKB/TrEMBL
    A0A024RE14
    Related
    ENSP00000326879.9, ENST00000325366.14
    Conserved Domains (1) summary
    pfam12640
    Location:19 → 176
    UPF0489; UPF0489 domain

RNA

  1. NR_134298.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate internal splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC022417, BC032845
    Related
    ENST00000510659.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    31532301..31555053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009607.2 → XP_016865096.1  UPF0489 protein C5orf22 isoform X1

  2. XM_011514062.4 → XP_011512364.1  UPF0489 protein C5orf22 isoform X3

    Conserved Domains (1) summary
    pfam12640
    Location:19 → 207
    UPF0489; UPF0489 domain

  3. XM_017009608.3 → XP_016865097.1  UPF0489 protein C5orf22 isoform X2

  4. XM_017009609.2 → XP_016865098.1  UPF0489 protein C5orf22 isoform X4

  5. XM_006714479.3 → XP_006714542.1  UPF0489 protein C5orf22 isoform X5

    Conserved Domains (1) summary
    pfam12640
    Location:1 → 92
    UPF0489; UPF0489 domain

  6. XM_006714480.4 → XP_006714543.1  UPF0489 protein C5orf22 isoform X6

    See identical proteins and their annotated locations for XP_006714543.1

    UniProtKB/Swiss-Prot
    Q49AR2
    UniProtKB/TrEMBL
    A0A024RE20
    Conserved Domains (1) summary
    pfam10098
    Location:23 → 71
    DUF2336; Uncharacterized protein conserved in bacteria (DUF2336)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    31646012..31668762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352886.1 → XP_054208861.1  UPF0489 protein C5orf22 isoform X1

  2. XM_054352888.1 → XP_054208863.1  UPF0489 protein C5orf22 isoform X3

  3. XM_054352887.1 → XP_054208862.1  UPF0489 protein C5orf22 isoform X2

  4. XM_054352889.1 → XP_054208864.1  UPF0489 protein C5orf22 isoform X4

  5. XM_054352890.1 → XP_054208865.1  UPF0489 protein C5orf22 isoform X5

  6. XM_054352891.1 → XP_054208866.1  UPF0489 protein C5orf22 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q49AR2.2 GenPept UniProtKB/Swiss-Prot:Q49AR2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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