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    GPATCH2L G-patch domain containing 2 like [ Homo sapiens (human) ]

    Gene ID: 55668, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GPATCH2Lprovided by HGNC
    Official Full Name
    G-patch domain containing 2 likeprovided by HGNC
    Primary source
    HGNC:HGNC:20210
    See related
    Ensembl:ENSG00000089916 AllianceGenome:HGNC:20210
    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
    C14orf118
    Summary
    Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 2.9), testis (RPKM 2.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GPATCH2L in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (76151922..76235555)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (70361062..70423507)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76618265..76680686)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 L3 pseudogene Neighboring gene intraflagellar transport 43 Neighboring gene uncharacterized LOC105370573 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:76550227-76551213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76578893-76579424 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:76581183-76581684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76582665-76583491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76597945-76598444 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76604854-76605582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8767 Neighboring gene uncharacterized LOC105370575 Neighboring gene Sharpr-MPRA regulatory region 6100 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:76770917-76771070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76776165-76776778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76796292-76796814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76795770-76796291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76796815-76797335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76800829-76801328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76807160-76807660 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76807661-76808161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8768 Neighboring gene estrogen related receptor beta Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76852844-76853344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76952887-76953387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76966323-76966862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77012337-77012836 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77017186-77017698 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77017699-77018211 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77018212-77018723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77031271-77031770 Neighboring gene Sharpr-MPRA regulatory region 14992 Neighboring gene uncharacterized LOC105370576

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. N6-methyladenosine hypomethylation of circGPATCH2L regulates DNA damage and apoptosis through TRIM28 in intervertebral disc degeneration. Chen Z, et al. Cell Death Differ, 2023 Aug. PMID 37438603, Free PMC Article
    2. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. Levy D, et al. BMC Med Genet, 2007 Sep 19. PMID 17903302, Free PMC Article
    3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
    4. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. N6-methyladenosine hypomethylation of circGPATCH2L regulates DNA damage and apoptosis through TRIM28 in intervertebral disc degeneration.
      Title: N6-methyladenosine hypomethylation of circGPATCH2L regulates DNA damage and apoptosis through TRIM28 in intervertebral disc degeneration.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    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

    • FLJ10033, FLJ20689, FLJ30822, MGC61896

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    G patch domain-containing protein 2-like

    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_001322026.2 → NP_001308955.1  G patch domain-containing protein 2-like isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC016526
      UniProtKB/TrEMBL
      G3V553
      Related
      ENSP00000452180.1, ENST00000554375.5

    2. NM_001322027.3 → NP_001308956.1  G patch domain-containing protein 2-like isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC016526
      UniProtKB/TrEMBL
      G3V553
      Related
      ENSP00000451587.1, ENST00000557263.5

    3. NM_001322028.2 → NP_001308957.1  G patch domain-containing protein 2-like isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC016526

    4. NM_001322029.2 → NP_001308958.1  G patch domain-containing protein 2-like isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC016526

    5. NM_001322030.3 → NP_001308959.1  G patch domain-containing protein 2-like isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC016526

    6. NM_001322031.2 → NP_001308960.1  G patch domain-containing protein 2-like isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC016526
      UniProtKB/TrEMBL
      Q9ULA8

    7. NM_001322032.2 → NP_001308961.1  G patch domain-containing protein 2-like isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC016526
      UniProtKB/TrEMBL
      G3V553

    8. NM_017926.4 → NP_060396.2  G patch domain-containing protein 2-like isoform 1

      See identical proteins and their annotated locations for NP_060396.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB032978, AC016526, AK000696
      Consensus CDS
      CCDS9848.1
      UniProtKB/Swiss-Prot
      B3KN42, Q6PEJ7, Q9H3M3, Q9NWH0, Q9NWQ4, Q9ULR8
      Related
      ENSP00000261530.7, ENST00000261530.12

    9. NM_017972.3 → NP_060442.2  G patch domain-containing protein 2-like isoform 2

      See identical proteins and their annotated locations for NP_060442.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon and contains an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB032978, AC016526, AK000696, AK000895
      Consensus CDS
      CCDS9849.1
      Related
      ENSP00000480608.1, ENST00000621494.1

    RNA

    1. NR_110314.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon at the 5' end and lacks an internal exon, and contains two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB032978, AC016526, BC038835

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      76151922..76235555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431559.1 → XP_047287515.1  G patch domain-containing protein 2-like isoform X7

    2. XM_017021428.2 → XP_016876917.1  G patch domain-containing protein 2-like isoform X2

    3. XM_017021427.2 → XP_016876916.1  G patch domain-containing protein 2-like isoform X1

    4. XM_047431558.1 → XP_047287514.1  G patch domain-containing protein 2-like isoform X6

      UniProtKB/TrEMBL
      G3V553

    5. XM_017021431.2 → XP_016876920.1  G patch domain-containing protein 2-like isoform X5

    6. XM_017021430.2 → XP_016876919.1  G patch domain-containing protein 2-like isoform X4

    7. XM_017021429.2 → XP_016876918.1  G patch domain-containing protein 2-like isoform X3

    8. XM_047431560.1 → XP_047287516.1  G patch domain-containing protein 2-like isoform X8

      UniProtKB/TrEMBL
      G3V553

    RNA

    1. XR_007064029.1 RNA Sequence

    2. XR_007064030.1 RNA Sequence

    3. XR_001750415.2 RNA Sequence

    4. XR_007064031.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      70361062..70423507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376338.1 → XP_054232313.1  G patch domain-containing protein 2-like isoform X2

    2. XM_054376337.1 → XP_054232312.1  G patch domain-containing protein 2-like isoform X1

    3. XM_054376342.1 → XP_054232317.1  G patch domain-containing protein 2-like isoform X6

      UniProtKB/TrEMBL
      G3V553

    4. XM_054376341.1 → XP_054232316.1  G patch domain-containing protein 2-like isoform X5

    5. XM_054376340.1 → XP_054232315.1  G patch domain-containing protein 2-like isoform X4

    6. XM_054376339.1 → XP_054232314.1  G patch domain-containing protein 2-like isoform X3

    7. XM_054376343.1 → XP_054232318.1  G patch domain-containing protein 2-like isoform X8

      UniProtKB/TrEMBL
      G3V553

    RNA

    1. XR_008488882.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWQ4.3 GenPept UniProtKB/Swiss-Prot:Q9NWQ4

    Gene LinkOut

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

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