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

Gene ID: 83699, updated on 5-Aug-2022

Summary

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

See SH3BGRL2 in Genome Data Viewer
Location:
6q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (79537633..79703655)
110 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 Sharpr-MPRA regulatory region 1391 Neighboring gene uncharacterized LOC124901348 Neighboring gene lebercilin LCA5 Neighboring gene Sharpr-MPRA regulatory region 10526 Neighboring gene uncharacterized LOC124901349 Neighboring gene long intergenic non-protein coding RNA 1621

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

NEW Try the new Transcript table

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_031469.4NP_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
    Q9BPY5, Q9UJC5
    Related
    ENSP00000358853.4, ENST00000369838.6
    Conserved Domains (1) summary
    cd03030
    Location:297
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047419391.1XP_047275347.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9BPY5
  2. XM_047419392.1XP_047275348.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9BPY5
  3. XM_047419390.1XP_047275346.1  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X1

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

    Conserved Domains (1) summary
    cd03030
    Location:789
    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)