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    PATL2 PAT1 homolog 2 [ Homo sapiens (human) ]

    Gene ID: 197135, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PATL2provided by HGNC
    Official Full Name
    PAT1 homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:33630
    See related
    Ensembl:ENSG00000229474 MIM:614661; AllianceGenome:HGNC:33630
    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
    OOMD4; Pat1a; OZEMA4; hPat1a
    Summary
    Predicted to enable RNA binding activity. Predicted to be involved in P-body assembly; deadenylation-dependent decapping of nuclear-transcribed mRNA; and negative regulation of translation. Predicted to act upstream of or within negative regulation of cytoplasmic mRNA processing body assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in spleen (RPKM 2.6), lymph node (RPKM 2.5) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PATL2 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (44665732..44711390, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42473704..42519366, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44957930..45003588, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44828013-44828800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6397 Neighboring gene EIF3J divergent transcript Neighboring gene eukaryotic translation initiation factor 3 subunit J Neighboring gene SPG11 vesicle trafficking associated, spatacsin Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44874604-44874775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6398 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44879793-44880004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9341 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44936676-44936780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9342 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44955204-44956160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9347 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45003536-45004198 Neighboring gene Sharpr-MPRA regulatory region 1044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45020107-45021094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45021095-45022080 Neighboring gene microRNA 10393 Neighboring gene beta-2-microglobulin Neighboring gene ring finger protein 4B, pseudogene

    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. Novel PATL2 variants cause female infertility with oocyte maturation defect. Hu HY, et al. J Assist Reprod Genet, 2024 Aug. PMID 38954294,
    2. Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure. Ye Z, et al. J Assist Reprod Genet, 2024 May. PMID 38536595,
    3. PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS. Peng SL, et al. Gynecol Endocrinol, 2021 Jul. PMID 34008465
    4. Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest. Liu Z, et al. J Assist Reprod Genet, 2020 Apr. PMID 32048119, Free PMC Article
    5. Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility. Wu L, et al. J Hum Genet, 2019 May. PMID 30765866

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.
      Title: Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.
    2. Novel PATL2 variants cause female infertility with oocyte maturation defect.
      Title: Novel PATL2 variants cause female infertility with oocyte maturation defect.
    3. Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS.
      Title: Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS.
    4. Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
      Title: Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
    5. PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS.
      Title: PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS.
    6. Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.
      Title: Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.
    7. This work further indicates the critical role of PATL2 in oocyte maturation and early embryo development and will provide a basis for pursuing the determination of genetic variation in PALT2 as an additional criterion for evaluating the quality of oocytes and embryos for assisted reproduction techniques.
      Title: Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.
    8. Data indicate PAT1 homolog 2 protein (PATL2) mutation as a major cause of oocyte meiotic deficiency.
      Title: PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.
    9. this study confirms previous findings that PATL2 is required for human oocyte maturation and female fertility, and also indicates the potential prognostic value of testing for PATL2 mutations in infertile women with oocyte germinal vesicle arrest.
      Title: Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.
    10. Nonsense mutation in PATL2 gene is associated with Female Infertility.
      Title: Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    Associated conditions

    Description Tests
    Oocyte maturation defect 4
    MedGen: C4540284 OMIM: 617743 GeneReviews: Not available
    		Compare labs

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in P-body assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in deadenylation-dependent decapping of nuclear-transcribed mRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cytoplasmic mRNA processing body assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in P-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of ribonucleoprotein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein PAT1 homolog 2
    Names
    PAT1-like protein 2
    protein PAT1 homolog a
    protein associated with topoisomerase II homolog 2

    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_001145112.2 → NP_001138584.1  protein PAT1 homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_001138584.1

      Status: VALIDATED

      Source sequence(s)
      AC009996, AC025270
      Consensus CDS
      CCDS45253.1
      UniProtKB/Swiss-Prot
      C9JE40
      Related
      ENSP00000416673.1, ENST00000434130.6
      Conserved Domains (1) summary
      pfam09770
      Location:263 → 413
      PAT1; Topoisomerase II-associated protein PAT1

    2. NM_001330283.2 → NP_001317212.1  protein PAT1 homolog 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009996, AC025270
      Consensus CDS
      CCDS81873.1
      UniProtKB/TrEMBL
      H0YMQ2
      Related
      ENSP00000453695.1, ENST00000560780.1

    3. NM_001387260.1 → NP_001374189.1  protein PAT1 homolog 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009996, AC025270
      Conserved Domains (1) summary
      pfam09770
      Location:232 → 382
      PAT1; Topoisomerase II-associated protein PAT1

    4. NM_001387261.1 → NP_001374190.1  protein PAT1 homolog 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009996, AC025270
      Consensus CDS
      CCDS45253.1
      UniProtKB/Swiss-Prot
      C9JE40
      Conserved Domains (1) summary
      pfam09770
      Location:263 → 413
      PAT1; Topoisomerase II-associated protein PAT1

    5. NM_001387262.1 → NP_001374191.1  protein PAT1 homolog 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009996, AC025270
      Consensus CDS
      CCDS45253.1
      UniProtKB/Swiss-Prot
      C9JE40
      Conserved Domains (1) summary
      pfam09770
      Location:263 → 413
      PAT1; Topoisomerase II-associated protein PAT1

    6. NM_001387263.1 → NP_001374192.1  protein PAT1 homolog 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009996, AC025270
      Consensus CDS
      CCDS45253.1
      UniProtKB/Swiss-Prot
      C9JE40
      Related
      ENSP00000508024.1, ENST00000682850.1
      Conserved Domains (1) summary
      pfam09770
      Location:263 → 413
      PAT1; Topoisomerase II-associated protein PAT1

    7. NM_001387264.1 → NP_001374193.1  protein PAT1 homolog 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009996, AC025270
      Conserved Domains (1) summary
      pfam09770
      Location:232 → 382
      PAT1; Topoisomerase II-associated protein PAT1

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      44665732..44711390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521339.4 → XP_011519641.1  protein PAT1 homolog 2 isoform X3

      See identical proteins and their annotated locations for XP_011519641.1

      Conserved Domains (1) summary
      pfam09770
      Location:263 → 413
      PAT1; Topoisomerase II-associated protein PAT1

    2. XM_011521345.4 → XP_011519647.1  protein PAT1 homolog 2 isoform X7

      Conserved Domains (1) summary
      pfam09770
      Location:176 → 316
      PAT1; Topoisomerase II-associated protein PAT1

    3. XM_011521343.4 → XP_011519645.1  protein PAT1 homolog 2 isoform X6

      See identical proteins and their annotated locations for XP_011519645.1

      Conserved Domains (1) summary
      pfam09770
      Location:179 → 313
      PAT1; Topoisomerase II-associated protein PAT1

    4. XM_011521338.4 → XP_011519640.1  protein PAT1 homolog 2 isoform X3

      See identical proteins and their annotated locations for XP_011519640.1

      Conserved Domains (1) summary
      pfam09770
      Location:263 → 413
      PAT1; Topoisomerase II-associated protein PAT1

    5. XM_047432230.1 → XP_047288186.1  protein PAT1 homolog 2 isoform X3

    6. XM_011521337.3 → XP_011519639.2  protein PAT1 homolog 2 isoform X2

    7. XM_011521346.3 → XP_011519648.2  protein PAT1 homolog 2 isoform X8

    8. XM_047432231.1 → XP_047288187.1  protein PAT1 homolog 2 isoform X4

    9. XM_011521336.3 → XP_011519638.2  protein PAT1 homolog 2 isoform X1

    10. XM_011521341.2 → XP_011519643.1  protein PAT1 homolog 2 isoform X3

      See identical proteins and their annotated locations for XP_011519643.1

      Conserved Domains (1) summary
      pfam09770
      Location:263 → 413
      PAT1; Topoisomerase II-associated protein PAT1

    11. XM_011521342.3 → XP_011519644.1  protein PAT1 homolog 2 isoform X5

      Conserved Domains (1) summary
      pfam09770
      Location:189 → 329
      PAT1; Topoisomerase II-associated protein PAT1

    12. XM_011521344.4 → XP_011519646.1  protein PAT1 homolog 2 isoform X6

      See identical proteins and their annotated locations for XP_011519646.1

      Conserved Domains (1) summary
      pfam09770
      Location:179 → 313
      PAT1; Topoisomerase II-associated protein PAT1

    13. XM_047432232.1 → XP_047288188.1  protein PAT1 homolog 2 isoform X9

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187605.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      4669..34672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      42473704..42519366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377475.1 → XP_054233450.1  protein PAT1 homolog 2 isoform X3

    2. XM_054377481.1 → XP_054233456.1  protein PAT1 homolog 2 isoform X10

    3. XM_054377479.1 → XP_054233454.1  protein PAT1 homolog 2 isoform X6

    4. XM_054377473.1 → XP_054233448.1  protein PAT1 homolog 2 isoform X3

    5. XM_054377474.1 → XP_054233449.1  protein PAT1 homolog 2 isoform X3

    6. XM_054377472.1 → XP_054233447.1  protein PAT1 homolog 2 isoform X2

    7. XM_054377482.1 → XP_054233457.1  protein PAT1 homolog 2 isoform X8

    8. XM_054377477.1 → XP_054233452.1  protein PAT1 homolog 2 isoform X4

    9. XM_054377471.1 → XP_054233446.1  protein PAT1 homolog 2 isoform X1

    10. XM_054377476.1 → XP_054233451.1  protein PAT1 homolog 2 isoform X3

    11. XM_054377478.1 → XP_054233453.1  protein PAT1 homolog 2 isoform X5

    12. XM_054377480.1 → XP_054233455.1  protein PAT1 homolog 2 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9JE40.1 GenPept UniProtKB/Swiss-Prot:C9JE40

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