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FANCD2OS FANCD2 opposite strand [ Homo sapiens (human) ]

Gene ID: 115795, updated on 5-Mar-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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Location:
3p25.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (10081320..10108457, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (10073539..10100677, complement)
105.20220307 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. 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
  3. 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
  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, Free PMC Article
  5. 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

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)

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

  • 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_2023_10

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

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