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    SH3BGRL2 SH3 domain binding glutamate rich protein like 2 [ Homo sapiens (human) ]

    Gene ID: 83699, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SH3BGRL2provided by HGNC
    Official Full Name
    SH3 domain binding glutamate rich protein like 2provided by HGNC
    Primary source
    HGNC:HGNC:15567
    See related
    Ensembl:ENSG00000198478 MIM:615678; AllianceGenome:HGNC:15567
    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
    Summary
    Predicted to enable SH3 domain binding activity. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in salivary gland (RPKM 15.4), thyroid (RPKM 15.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH3BGRL2 in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (79537633..79703655)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (80743141..80909216)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (80247350..80413372)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506851 Neighboring gene uncharacterized LOC105377867 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:80162983-80164182 Neighboring gene Sharpr-MPRA regulatory region 1391 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:80234937-80236136 Neighboring gene uncharacterized LOC124901348 Neighboring gene lebercilin LCA5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24769 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:80247043-80247616 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:80248191-80248764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:80254355-80255117 Neighboring gene Sharpr-MPRA regulatory region 10526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:80373066-80373678 Neighboring gene uncharacterized LOC124901349 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_95971 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:80516189-80517388 Neighboring gene long intergenic non-protein coding RNA 1621

    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. The identification of a novel human homologue of the SH3 binding glutamic acid-rich (SH3BGR) gene establishes a new family of highly conserved small proteins related to Thioredoxin Superfamily. Mazzocco M, et al. Gene, 2002 May 29. PMID 12095696
    2. SH3BGRL2 functions as a crucial tumor suppressor in glioblastoma tumorigenesis. Nie Z, et al. Biochem Biophys Res Commun, 2021 Apr 2. PMID 33610914
    3. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Kasperaviciūte D, et al. Brain, 2010 Jul. PMID 20522523, Free PMC Article
    4. Linkage and association of successful aging to the 6q25 region in large Amish kindreds. Edwards DR, et al. Age (Dordr), 2013 Aug. PMID 22773346, Free PMC Article
    5. Preliminary RNA-Seq Analysis of Long Non-Coding RNAs Expressed in Human Term Placenta. Majewska M, et al. Int J Mol Sci, 2018 Jun 27. PMID 29954144, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SH3BGRL2 functions as a crucial tumor suppressor in glioblastoma tumorigenesis.
      Title: SH3BGRL2 functions as a crucial tumor suppressor in glioblastoma tumorigenesis.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
    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

    EBI GWAS Catalog

    Description
    Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of SH3 domain binding glutamate-rich protein like 2 (SH3BGRL2) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90025

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    SH3 domain-binding glutamic acid-rich-like protein 2
    Names
    SH3 domain binding glutamic acid-rich protein like 2
    fovea-associated SH3 domain-binding protein

    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_031469.4 → NP_113657.1  SH3 domain-binding glutamic acid-rich-like protein 2

      See identical proteins and their annotated locations for NP_113657.1

      Status: VALIDATED

      Source sequence(s)
      AF340151, AJ297972, DR422465
      Consensus CDS
      CCDS4991.1
      UniProtKB/Swiss-Prot
      A8MQU2, Q2VPC2, Q5VV96, Q6NSK8, Q6P9E8, Q7Z734, Q8IWD3, Q9BPY5, Q9UJC5
      Related
      ENSP00000358853.4, ENST00000369838.6
      Conserved Domains (1) summary
      cd03030
      Location:2 → 97
      GRX_SH3BGR; Glutaredoxin (GRX) family, SH3BGR (SH3 domain binding glutamic acid-rich protein) subfamily; a recently-identified subfamily composed of SH3BGR and similar proteins possessing significant sequence similarity to GRX, but without a redox active CXXC motif. ...

    RNA

    1. NR_171675.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL035700, AL391840
      Related
      ENST00000718098.1

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      79537633..79703655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419391.1 → XP_047275347.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A8MQU2, Q2VPC2, Q5VV96, Q6NSK8, Q6P9E8, Q7Z734, Q8IWD3, Q9BPY5, Q9UJC5

    2. XM_047419392.1 → XP_047275348.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A8MQU2, Q2VPC2, Q5VV96, Q6NSK8, Q6P9E8, Q7Z734, Q8IWD3, Q9BPY5, Q9UJC5

    3. XM_047419390.1 → XP_047275346.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X1

      Related
      ENSP00000520671.1, ENST00000718102.1

    4. XM_011536165.3 → XP_011534467.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X3

      Conserved Domains (1) summary
      cd03030
      Location:7 → 89
      GRX_SH3BGR; Glutaredoxin (GRX) family, SH3BGR (SH3 domain binding glutamic acid-rich protein) subfamily; a recently-identified subfamily composed of SH3BGR and similar proteins possessing significant sequence similarity to GRX, but without a redox active CXXC motif. ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      80743141..80909216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356508.1 → XP_054212483.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A8MQU2, Q2VPC2, Q5VV96, Q6NSK8, Q6P9E8, Q7Z734, Q8IWD3, Q9BPY5, Q9UJC5

    2. XM_054356509.1 → XP_054212484.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A8MQU2, Q2VPC2, Q5VV96, Q6NSK8, Q6P9E8, Q7Z734, Q8IWD3, Q9BPY5, Q9UJC5

    3. XM_054356507.1 → XP_054212482.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X1

    4. XM_054356510.1 → XP_054212485.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJC5.2 GenPept UniProtKB/Swiss-Prot:Q9UJC5

    Gene LinkOut

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

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