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

Gene ID: 83699, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in salivary gland (RPKM 15.4), thyroid (RPKM 15.2) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
6q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (79537633..79703655)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (80743141..80909216)
105.20220307 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
  • 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. SH3BGRL2 functions as a crucial tumor suppressor in glioblastoma tumorigenesis. Nie Z, et al. Biochem Biophys Res Commun, 2021 Apr 2. PMID 33610914
  2. 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
  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

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_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

  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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