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    SH3RF2 SH3 domain containing ring finger 2 [ Homo sapiens (human) ]

    Gene ID: 153769, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SH3RF2provided by HGNC
    Official Full Name
    SH3 domain containing ring finger 2provided by HGNC
    Primary source
    HGNC:HGNC:26299
    See related
    Ensembl:ENSG00000156463 MIM:613377; AllianceGenome:HGNC:26299
    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
    HEPP1; POSHER; RNF158; PPP1R39
    Summary
    Enables protein phosphatase 1 binding activity and ubiquitin protein ligase activity. Involved in several processes, including positive regulation of JNK cascade; protein autoubiquitination; and regulation of protein metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in skin (RPKM 22.7), testis (RPKM 19.4) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH3RF2 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (145936578..146081773)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (146470962..146616058)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145316141..145442855)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PRELI domain containing 2 Neighboring gene TRPC6 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16487 Neighboring gene CRISPRi-validated cis-regulatory element chr5.3602 Neighboring gene uncharacterized LOC107986458 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145315879-145316456 Neighboring gene glutaredoxin and cysteine rich domain containing 2 Neighboring gene MPRA-validated peak5514 silencer Neighboring gene Sharpr-MPRA regulatory region 2549 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80964 Neighboring gene apolipoprotein O like pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80983 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145405605-145406400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:145406401-145407194 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:145407216-145408415 Neighboring gene uncharacterized LOC107986459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:145428236-145428736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23358 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:145452250-145453204 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:145453205-145454157 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81045 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81119 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:145481092-145481650 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81180 Neighboring gene MPRA-validated peak5518 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81226 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81266 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81335 Neighboring gene PLAC8 like 1 Neighboring gene ribosomal protein L35a pseudogene 16 Neighboring gene leucyl-tRNA synthetase 1

    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. SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation. Gong TT, et al. Commun Biol, 2024 Jan 9. PMID 38195842, Free PMC Article
    2. Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population. Chen H, et al. Microb Pathog, 2021 Mar. PMID 33129950
    3. FLJ23654 encodes a heart protein phosphatase 1-binding protein (Hepp1). Chen CY, et al. Biochem Biophys Res Commun, 2010 Jan 1. PMID 19945436
    4. Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD. Yang X, et al. Hepatology, 2021 Sep. PMID 33894019
    5. Sh3rf2/POSHER protein promotes cell survival by ring-mediated proteasomal degradation of the c-Jun N-terminal kinase scaffold POSH (Plenty of SH3s) protein. Wilhelm M, et al. J Biol Chem, 2012 Jan 13. PMID 22128169, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation.
      Title: SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation.
    2. Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
      Title: Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
    3. Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population.
      Title: Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population.
    4. 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.
    5. the novel protein heart protein phosphatase 1-binding protein (Hepp1), encoded by FLJ23654, was identified.Hepp1 can play a role in cardiac functions by working in concert with PP1.
      Title: FLJ23654 encodes a heart protein phosphatase 1-binding protein (Hepp1).
    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

    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

    • FLJ23654, MGC90410, MGC149788, MGC149789

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase 1 binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of JNK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein autoubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase SH3RF2
    Names
    POSH-eliminating RING protein
    RING finger protein 158
    RING-type E3 ubiquitin transferase SH3RF2
    SH3 domain-containing RING finger protein 2
    heart protein phosphatase 1-binding protein
    phosphatase 1 binding protein
    protein phosphatase 1 regulatory subunit 39
    putative E3 ubiquitin-protein ligase SH3RF2
    NP_689763.4
    XP_006714820.1
    XP_011535869.1
    XP_011535870.1
    XP_016864625.1
    XP_054207824.1
    XP_054207825.1
    XP_054207826.1
    XP_054207827.1

    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_152550.4 → NP_689763.4  E3 ubiquitin-protein ligase SH3RF2

      Status: VALIDATED

      Source sequence(s)
      AC005216, AC005351, AC011359, AC091887
      Consensus CDS
      CCDS4280.1
      UniProtKB/Swiss-Prot
      A8K961, Q08AM9, Q6GMR9, Q8N5S8, Q8TEC5, Q96LP8
      UniProtKB/TrEMBL
      Q08AM8
      Related
      ENSP00000352028.4, ENST00000359120.9
      Conserved Domains (4) summary
      cd11784
      Location:384 → 438
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11932
      Location:191 → 247
      SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      145936578..146081773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714757.2 → XP_006714820.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

      See identical proteins and their annotated locations for XP_006714820.1

      UniProtKB/Swiss-Prot
      A8K961, Q08AM9, Q6GMR9, Q8N5S8, Q8TEC5, Q96LP8
      UniProtKB/TrEMBL
      Q08AM8
      Conserved Domains (4) summary
      cd11784
      Location:384 → 438
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11932
      Location:191 → 247
      SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

    2. XM_011537568.3 → XP_011535870.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

      See identical proteins and their annotated locations for XP_011535870.1

      UniProtKB/TrEMBL
      Q08AM8
      Conserved Domains (4) summary
      cd11784
      Location:384 → 438
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11932
      Location:191 → 247
      SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

    3. XM_017009136.2 → XP_016864625.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

      UniProtKB/Swiss-Prot
      A8K961, Q08AM9, Q6GMR9, Q8N5S8, Q8TEC5, Q96LP8
      UniProtKB/TrEMBL
      Q08AM8
      Related
      ENSP00000424497.1, ENST00000511217.1
      Conserved Domains (4) summary
      cd11784
      Location:384 → 438
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11932
      Location:191 → 247
      SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

    4. XM_011537567.3 → XP_011535869.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

      See identical proteins and their annotated locations for XP_011535869.1

      UniProtKB/TrEMBL
      Q08AM8
      Conserved Domains (4) summary
      cd11784
      Location:384 → 438
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11932
      Location:191 → 247
      SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      146470962..146616058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351851.1 → XP_054207826.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

    2. XM_054351850.1 → XP_054207825.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

    3. XM_054351852.1 → XP_054207827.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

    4. XM_054351849.1 → XP_054207824.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TEC5.3 GenPept UniProtKB/Swiss-Prot:Q8TEC5

    Gene LinkOut

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

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