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SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 [ Homo sapiens (human) ]

Gene ID: 56904, updated on 4-Nov-2018

Summary

Official Symbol
SH3GLB2provided by HGNC
Official Full Name
SH3 domain containing GRB2 like, endophilin B2provided by HGNC
Primary source
HGNC:HGNC:10834
See related
Ensembl:ENSG00000148341 MIM:609288; Vega:OTTHUMG00000020769
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
RRIG1; PP6569; PP9455
Expression
Ubiquitous expression in skin (RPKM 45.1), prostate (RPKM 29.7) and 25 other tissues See more
Orthologs

Genomic context

See SH3GLB2 in Genome Data Viewer
Location:
9q34.11
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (129007792..129028353, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131770313..131790604, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 188 Neighboring gene dolichol kinase Neighboring gene uncharacterized LOC101929314 Neighboring gene mitoguardin 2 Neighboring gene dolichyldiphosphatase 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1848

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
endophilin-B2
Names
SH3 domain-containing GRB2-like protein B2
SH3-containing protein SH3GLB2
SH3-domain GRB2-like endophilin B2
retinoid receptor-induced gene 1

NCBI Reference Sequences (RefSeq)

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_001287045.1NP_001273974.1  endophilin-B2 isoform a

    See identical proteins and their annotated locations for NP_001273974.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB058751, BC005843, BM808895
    Consensus CDS
    CCDS69680.1
    UniProtKB/Swiss-Prot
    Q9NR46
    Related
    ENSP00000361634.4, OTTHUMP00000043254, ENST00000372554.8, OTTHUMT00000106248
    Conserved Domains (2) summary
    cd07617
    Location:21282
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:348402
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  2. NM_001287046.1NP_001273975.1  endophilin-B2 isoform b

    See identical proteins and their annotated locations for NP_001273975.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, and also lacks a segment of the 3' UTR, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode isoform b.
    Source sequence(s)
    AF257319, BC005843, BM808895
    Consensus CDS
    CCDS6916.1
    UniProtKB/Swiss-Prot
    Q9NR46
    UniProtKB/TrEMBL
    A0A024R896
    Related
    ENSP00000361640.1, OTTHUMP00000022320, ENST00000372559.5, OTTHUMT00000054536
    Conserved Domains (2) summary
    cd07617
    Location:21278
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:339393
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  3. NM_020145.3NP_064530.1  endophilin-B2 isoform b

    See identical proteins and their annotated locations for NP_064530.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. Both variants 2 and 3 encode isoform b.
    Source sequence(s)
    AB058751, BC005843, BC014635, BM808895
    Consensus CDS
    CCDS6916.1
    UniProtKB/Swiss-Prot
    Q9NR46
    UniProtKB/TrEMBL
    A0A024R896
    Related
    ENSP00000361645.3, OTTHUMP00000022319, ENST00000372564.7, OTTHUMT00000054535
    Conserved Domains (2) summary
    cd07617
    Location:21278
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:339393
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    129007792..129028353 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717191.1XP_006717254.1  endophilin-B2 isoform X5

    See identical proteins and their annotated locations for XP_006717254.1

    Conserved Domains (2) summary
    cd07617
    Location:21282
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:343397
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  2. XM_006717190.1XP_006717253.1  endophilin-B2 isoform X3

    Conserved Domains (2) summary
    cd07617
    Location:21306
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:367421
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  3. XM_006717188.2XP_006717251.1  endophilin-B2 isoform X1

    Conserved Domains (2) summary
    cd07617
    Location:21306
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:372426
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  4. XM_005252098.2XP_005252155.1  endophilin-B2 isoform X4

    See identical proteins and their annotated locations for XP_005252155.1

    UniProtKB/TrEMBL
    B7ZC38
    Related
    ENSP00000402566.1, OTTHUMP00000206382, ENST00000417224.5, OTTHUMT00000336524
    Conserved Domains (2) summary
    cd07617
    Location:21278
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:344398
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  5. XM_005252100.2XP_005252157.1  endophilin-B2 isoform X6

    See identical proteins and their annotated locations for XP_005252157.1

    Related
    ENSP00000388282.1, OTTHUMP00000206383, ENST00000416629.5, OTTHUMT00000336525
    Conserved Domains (2) summary
    cd07617
    Location:21257
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:323377
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  6. XM_006717189.2XP_006717252.1  endophilin-B2 isoform X2

    Conserved Domains (2) summary
    cd07617
    Location:21302
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:368422
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
  7. XM_005252101.3XP_005252158.1  endophilin-B2 isoform X7

    See identical proteins and their annotated locations for XP_005252158.1

    UniProtKB/Swiss-Prot
    Q9NR46
    Conserved Domains (1) summary
    cl17036
    Location:65125
    SH3; Src Homology 3 domain superfamily
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