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    FANCD2OS FANCD2 opposite strand [ Homo sapiens (human) ]

    Gene ID: 115795, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FANCD2OSprovided by HGNC
    Official Full Name
    FANCD2 opposite strandprovided by HGNC
    Primary source
    HGNC:HGNC:28623
    See related
    Ensembl:ENSG00000163705 AllianceGenome:HGNC:28623
    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
    Also known as
    C3orf24
    Summary
    This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013]
    Expression
    Biased expression in testis (RPKM 12.7), bone marrow (RPKM 0.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See FANCD2OS in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (10081320..10108457, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (10073539..10100677, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (10123004..10149939, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 3p25 FANCD2 Alu-mediated recombination region Neighboring gene FA complementation group D2 Neighboring gene RNA, U6 small nuclear 670, pseudogene Neighboring gene CYCS pseudogene 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10111907-10112871 Neighboring gene NANOG hESC enhancer GRCh37_chr3:10138555-10139102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19417 Neighboring gene 3p25 BRK1 Alu-mediated recombination region Neighboring gene BRICK1 subunit of SCAR/WAVE actin nucleating complex Neighboring gene small nucleolar RNA U13

    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. Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. Pérez-Palma E, et al. PLoS One, 2014. PMID 24755620, Free PMC Article
    2. The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4. Chen W, et al. Breast Cancer Res Treat, 2023 Oct. PMID 37433992, Free PMC Article
    3. 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, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. 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

    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
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40179

    General protein information

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    Preferred Names
    FANCD2 opposite strand protein
    Names
    Fanconi anemia group D2 protein opposite strand transcript protein

    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.

    Genomic

    1. NG_042053.1 RefSeqGene

      Range
      4977..9295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164839.2 → NP_001158311.1  FANCD2 opposite strand protein

      See identical proteins and their annotated locations for NP_001158311.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC034193, AF230334, AW074860
      Consensus CDS
      CCDS2596.1
      UniProtKB/Swiss-Prot
      Q96PS1
      Related
      ENSP00000429608.1, ENST00000450660.3
      Conserved Domains (1) summary
      pfam15124
      Location:3 → 177
      FANCD2OS; FANCD2 opposite strand protein

    2. NM_173472.2 → NP_775743.1  FANCD2 opposite strand protein

      See identical proteins and their annotated locations for NP_775743.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC034193, BC028122
      Consensus CDS
      CCDS2596.1
      UniProtKB/Swiss-Prot
      Q96PS1
      Related
      ENSP00000429663.1, ENST00000524279.1
      Conserved Domains (1) summary
      pfam15124
      Location:3 → 177
      FANCD2OS; FANCD2 opposite strand protein

    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
      10081320..10108457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447400.1 → XP_047303356.1  FANCD2 opposite strand protein isoform X1

    RNA

    1. XR_007095636.1 RNA Sequence

    2. XR_007095635.1 RNA Sequence

    3. XR_007095633.1 RNA Sequence

    4. XR_007095634.1 RNA Sequence

    5. XR_007095632.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      10073539..10100677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345138.1 → XP_054201113.1  FANCD2 opposite strand protein isoform X1

    RNA

    1. XR_008486644.1 RNA Sequence

    2. XR_008486643.1 RNA Sequence

    3. XR_008486641.1 RNA Sequence

    4. XR_008486642.1 RNA Sequence

    5. XR_008486640.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PS1.1 GenPept UniProtKB/Swiss-Prot:Q96PS1

    Gene LinkOut

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

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