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    C11orf21 chromosome 11 open reading frame 21 [ Homo sapiens (human) ]

    Gene ID: 29125, updated on 17-Jun-2024

    Summary

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    Official Symbol
    C11orf21provided by HGNC
    Official Full Name
    chromosome 11 open reading frame 21provided by HGNC
    Primary source
    HGNC:HGNC:13231
    See related
    Ensembl:ENSG00000110665 MIM:611033; AllianceGenome:HGNC:13231
    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
    Summary
    Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bone marrow (RPKM 16.9), spleen (RPKM 6.5) and 7 other tissues See more
    Orthologs
    all
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    Genomic context

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    See C11orf21 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2295628..2303140, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2385108..2392584, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2316858..2324370, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2198066-2198912 Neighboring gene microRNA 4686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2225905-2226503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2233643-2234213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2235935-2236495 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:2244593-2245167 Neighboring gene achaete-scute family bHLH transcription factor 2 Neighboring gene Sharpr-MPRA regulatory region 3604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2327147-2327814 Neighboring gene tetraspanin 32 Neighboring gene uncharacterized LOC124902612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2333788-2334393 Neighboring gene RNA, U6 small nuclear 878, 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
    • 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. C11orf21, a novel gene within the Beckwith-Wiedemann syndrome region in human chromosome 11p15.5. Zhu X, et al. Gene, 2000 Oct 3. PMID 11054561
    2. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Speedy HE, et al. Nat Genet, 2014 Jan. PMID 24292274
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    5. 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

    See all (6) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C11orf21

    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_001142946.3 → NP_001136418.1  uncharacterized protein C11orf21 isoform 1

      See identical proteins and their annotated locations for NP_001136418.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB029488, AC129929, AK310172
      Consensus CDS
      CCDS44518.1
      UniProtKB/TrEMBL
      E9PAM5
      Related
      ENSP00000406541.2, ENST00000456145.2
      Conserved Domains (1) summary
      pfam15399
      Location:68 → 178
      DUF4620; Domain of unknown function (DUF4620)

    2. NM_001329958.2 → NP_001316887.1  uncharacterized protein C11orf21 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AB029488, AC129929
      Consensus CDS
      CCDS86168.1
      UniProtKB/Swiss-Prot
      Q9P2W6
      UniProtKB/TrEMBL
      A8K4F6
      Related
      ENSP00000370545.4, ENST00000381153.8
      Conserved Domains (1) summary
      pfam15399
      Location:22 → 132
      DUF4620; Domain of unknown function (DUF4620)

    RNA

    1. NR_138249.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC129929, DA941234

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2295628..2303140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2385108..2392584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014144.1: Suppressed sequence

      Description
      NM_014144.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2W6.1 GenPept UniProtKB/Swiss-Prot:Q9P2W6

    Gene LinkOut

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

    Chemical Information
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