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    C21orf2 chromosome 21 open reading frame 2 [ Homo sapiens (human) ]

    Gene ID: 755, updated on 5-May-2013
    Official Symbol
    C21orf2provided by HGNC
    Official Full Name
    chromosome 21 open reading frame 2provided by HGNC
    Primary source
    HGNC:1260
    See related
    Ensembl:ENSG00000160226; MIM:603191; Vega:OTTHUMG00000086909
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    YF5/A2
    Summary
    Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
    Location :
    21q22.3
    Sequence :
    Chromosome: 21; NC_000021.8 (45748827..45759285, complement)
    See C21orf2 in Epigenomics, MapViewer

    Chromosome 21 - NC_000021.8Genomic Context describing neighboring genes Neighboring gene autoimmune regulator Neighboring gene phosphofructokinase, liver Neighboring gene transient receptor potential cation channel, subfamily M, member 2 Neighboring gene LRRC3 antisense RNA 1 (head to head)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965.
    3. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674.
    4. 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.
    5. Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain. Shim KS, et al. J Neural Transm Suppl, 2003. PMID 15068244.

    See all (10) 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. Downregulated protein level of C21orf2 in adult brain of patients with Down syndrome (DS) in contrast to Alzheimer's disease indicates that it can be considered specific for changes in DS.
      Title: Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:107211 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
    		  
    cilium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		  
    regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    nuclear encoded mitochondrial protein C21orf2; protein C21orf2
    Names
    nuclear encoded mitochondrial protein C21orf2

    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.

    Genomic

    1. NG_032952.1 RefSeqGene

      Range
      5001..15459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271440.1 → NP_001258369.1  nuclear encoded mitochondrial protein C21orf2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2, also known as YF5) lacks an internal aa, compared to isoform 1.
      Source sequence(s)
      BM761336, U84569, Y11392
      Consensus CDS
      CCDS59445.1
      UniProtKB/TrEMBL
      G5E952
      UniProtKB/Swiss-Prot
      O43822
      Conserved Domains (3) summary
      smart00446
      Location:104 – 122
      Blast Score: 79
      LRRcap; occurring C-terminal to leucine-rich repeats
      pfam12799
      Location:62 – 98
      Blast Score: 81
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:19 – 74
      Blast Score: 106
      LRR_8; Leucine rich repeat

    2. NM_001271441.1 → NP_001258370.1  nuclear encoded mitochondrial protein C21orf2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) has an additional segment in the C-terminal region, compared to isoform 1.
      Source sequence(s)
      BC031300, BM761336, Y11392
      Consensus CDS
      CCDS59444.1
      UniProtKB/Swiss-Prot
      O43822
      UniProtKB/TrEMBL
      Q8N5X6
      Conserved Domains (2) summary
      pfam12799
      Location:62 – 98
      Blast Score: 88
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:19 – 74
      Blast Score: 113
      LRR_8; Leucine rich repeat

    3. NM_001271442.1 → NP_001258371.1  protein C21orf2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon and an additional exon in the 5' region, which cause translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (4, also known as A2) is shorter and lacks a mitochondrial targeting peptide, compared to isoform 1.
      Source sequence(s)
      AP001062, BC031300, U84570, Y11392
      UniProtKB/Swiss-Prot
      O43822
      UniProtKB/TrEMBL
      Q8N5X6
      Conserved Domains (3) summary
      smart00446
      Location:63 – 81
      Blast Score: 79
      LRRcap; occurring C-terminal to leucine-rich repeats
      pfam12799
      Location:2 – 39
      Blast Score: 82
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:22 – 81
      Blast Score: 80
      LRR_8; Leucine rich repeat

    4. NM_004928.2 → NP_004919.1  nuclear encoded mitochondrial protein C21orf2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a mitochondrial protein (isoform 1).
      Source sequence(s)
      BC072012, BM761336, Y11392
      Consensus CDS
      CCDS13709.1
      UniProtKB/Swiss-Prot
      O43822
      Related
      ENSP00000344566, OTTHUMP00000109512, ENST00000339818, OTTHUMT00000195799
      Conserved Domains (3) summary
      smart00446
      Location:104 – 122
      Blast Score: 79
      LRRcap; occurring C-terminal to leucine-rich repeats
      pfam12799
      Location:62 – 98
      Blast Score: 81
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:19 – 74
      Blast Score: 105
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000021.8 Reference GRCh37.p10 Primary Assembly

      Range
      45748827..45759285, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000153.1 Alternate HuRef

      Range
      31119127..31129572, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018932.1 Alternate CHM1_1.0

      Range
      36245834..36256021, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01074163.1 (28793..39238) None
    genomic AMYH01012292.1 (28746..38933) None
    genomic AP001062.1 (18640..28959) None
    genomic AP001754.1 BAA95562.1
    genomic CH471079.2 EAX09431.1
      EAX09432.1
      EAX09433.1
      EAX09434.1
      EAX09435.1
    mRNA AB209578.1 BAD92815.1
    mRNA BC031300.1 AAH31300.1
    mRNA BC072012.1 AAH72012.1
    mRNA BM761336.1 None
    mRNA U84569.1 AAB46590.1
    mRNA U84570.1 AAB46591.1
    mRNA Y11392.1 CAA72202.1
    mRNA Z93322.1 CAB07532.1
    other-genetic HQ447674.1 ADQ32159.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43822.1 GenPept UniProtKB/Swiss-Prot:O43822

    Additional Links

    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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      Supplemental Content

      Table of contents

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      • Order cDNA clone
        Order cDNA clone
      • BioAssay
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      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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