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

Gene ID: 55668, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 2.9), testis (RPKM 2.4) and 25 other tissues See more
Orthologs
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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: HPA RNA-seq normal tissues 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. 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)

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

  • 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

  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

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

  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

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

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