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

    Gene ID: 55322, updated on 19-Sep-2024

    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
    mouse all
    NEW
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (31532301..31555053)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (31646012..31668762)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (31532408..31555160)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cadherin 6 Neighboring gene double homeobox 4 like 51 (pseudogene) Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:31342590-31343789 Neighboring gene NANOG hESC enhancer GRCh37_chr5:31427117-31427643 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:31452968-31453512 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84469 Neighboring gene drosha ribonuclease III Neighboring gene Sharpr-MPRA regulatory region 6191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:31493720-31494220 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22432 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:31618177-31618357 Neighboring gene RNA, U6 small nuclear 363, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:31680333-31680851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:31680852-31681369 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:31716787-31717309 Neighboring gene PDZ domain containing 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:31753742-31754275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22434 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:31780232-31780511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:31798873-31799374 Neighboring gene RNA, U6 small nuclear 358, pseudogene

    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 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

    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, Q8ND28, Q8WU61, Q9NUR1
      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_2024_08

    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

      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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