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PATL2 PAT1 homolog 2 [ Homo sapiens (human) ]

Gene ID: 197135, updated on 31-Mar-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 and deadenylation-dependent decapping of nuclear-transcribed mRNA. Predicted to act upstream of or within negative regulation of cytoplasmic mRNA processing body assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 2.6), lymph node (RPKM 2.5) and 20 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (44665732..44711390, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42473704..42519366, complement)
105.20220307 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 ring finger protein 4 pseudogene Neighboring gene microRNA 10393 Neighboring gene beta-2-microglobulin

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. PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS. Peng SL, et al. Gynecol Endocrinol, 2021 Jul. PMID 34008465
  2. 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
  3. 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
  4. Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest. Huang L, et al. Hum Reprod, 2018 Jun 1. PMID 29697801
  5. Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. Chen B, et al. Am J Hum Genet, 2017 Oct 5. PMID 28965849, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Nonsense mutation in PATL2 gene is associated with Female Infertility.
    Title: Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
  9. Mutation in PATL2 gene is associated with Female Infertility.
    Title: Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.
Submit: New GeneRIF Correction

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
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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

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_2023_10

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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