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    C3orf22 chromosome 3 open reading frame 22 [ Homo sapiens (human) ]

    Gene ID: 152065, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C3orf22provided by HGNC
    Official Full Name
    chromosome 3 open reading frame 22provided by HGNC
    Primary source
    HGNC:HGNC:28534
    See related
    Ensembl:ENSG00000180697 AllianceGenome:HGNC:28534
    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
    Restricted expression toward testis (RPKM 2.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See C3orf22 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (126526999..126558932, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (129259307..129291738, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126245842..126277775, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126160086-126160721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126167171-126168110 Neighboring gene ZXD family zinc finger C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126186579-126187556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126193081-126193606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126204897-126205832 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:126207907-126209106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126216345-126217222 Neighboring gene urocanate hydratase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126229039-126229961 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:126239356-126239555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126242322-126242822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126242823-126243323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126243384-126243884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126243885-126244385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126248434-126249422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20439 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:126258788-126258962 Neighboring gene carbohydrate sulfotransferase 13 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:126267915-126268796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126268797-126269679 Neighboring gene uncharacterized LOC105374090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126288341-126289251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126289252-126290161 Neighboring gene RNA, 5S ribosomal pseudogene 138 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:126329686-126329869 Neighboring gene thioredoxin reductase 3 Neighboring gene METTL5 pseudogene 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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC34728

    General protein information

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    Preferred Names
    uncharacterized protein C3orf22

    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_152533.3 → NP_689746.1  uncharacterized protein C3orf22

      See identical proteins and their annotated locations for NP_689746.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
      Source sequence(s)
      BC032025, DB055549
      Consensus CDS
      CCDS3040.1
      UniProtKB/Swiss-Prot
      B3KUS9, Q8N5N4
      Related
      ENSP00000316644.2, ENST00000318225.3

    RNA

    1. NR_130715.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a different 3' structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC024558, AK097841
      Related
      ENST00000505070.5

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      126526999..126558932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512457.3 → XP_011510759.1  uncharacterized protein C3orf22 isoform X3

    2. XM_011512455.3 → XP_011510757.1  uncharacterized protein C3orf22 isoform X2

    3. XM_017005751.2 → XP_016861240.1  uncharacterized protein C3orf22 isoform X1

      UniProtKB/Swiss-Prot
      B3KUS9, Q8N5N4

    4. XM_017005752.2 → XP_016861241.1  uncharacterized protein C3orf22 isoform X1

      UniProtKB/Swiss-Prot
      B3KUS9, Q8N5N4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      129259307..129291738 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345363.1 → XP_054201338.1  uncharacterized protein C3orf22 isoform X3

    2. XM_054345362.1 → XP_054201337.1  uncharacterized protein C3orf22 isoform X2

    3. XM_054345360.1 → XP_054201335.1  uncharacterized protein C3orf22 isoform X1

      UniProtKB/Swiss-Prot
      B3KUS9, Q8N5N4

    4. XM_054345361.1 → XP_054201336.1  uncharacterized protein C3orf22 isoform X1

      UniProtKB/Swiss-Prot
      B3KUS9, Q8N5N4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5N4.1 GenPept UniProtKB/Swiss-Prot:Q8N5N4

    Gene LinkOut

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