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SHE Src homology 2 domain containing E [ Homo sapiens (human) ]

Gene ID: 126669, updated on 5-Aug-2022

Summary

Official Symbol
SHEprovided by HGNC
Official Full Name
Src homology 2 domain containing Eprovided by HGNC
Primary source
HGNC:HGNC:27004
See related
Ensembl:ENSG00000169291 MIM:610482; AllianceGenome:HGNC:27004
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 phosphotyrosine residue binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 8.7), lung (RPKM 6.4) and 22 other tissues See more
Orthologs
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Genomic context

See SHE in Genome Data Viewer
Location:
1q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154469637..154502412, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153616622..153639550, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154451957..154474888, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene IL6R antisense RNA 1 Neighboring gene interleukin 6 receptor Neighboring gene proteasome 26S subunit, non-ATPase, 8 pseudogene 1 Neighboring gene tudor domain containing 10 Neighboring gene Sharpr-MPRA regulatory region 5559 Neighboring gene UBE2Q1 antisense RNA 1 Neighboring gene ubiquitin conjugating enzyme E2 Q1

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
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of Src homology 2 domain containing E (SHE) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N 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

  • DKFZp451D1511, DKFZp686E14106

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphotyrosine residue binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
SH2 domain-containing adapter protein E

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_001010846.3NP_001010846.1  SH2 domain-containing adapter protein E

    See identical proteins and their annotated locations for NP_001010846.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    AI797276, AL162591, BC117210
    Consensus CDS
    CCDS30877.1
    UniProtKB/Swiss-Prot
    Q5VZ18, Q8TEQ5
    Related
    ENSP00000307369.2, ENST00000304760.3
    Conserved Domains (1) summary
    cd10391
    Location:393490
    SH2_SHE; Src homology 2 domain found in SH2 domain-containing adapter protein E (SHE)

RNA

  1. NR_135169.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL162591, BC117210, CA436491, CR936667

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    154469637..154502412 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244891.6XP_005244948.1  SH2 domain-containing adapter protein E isoform X2

    See identical proteins and their annotated locations for XP_005244948.1

    Conserved Domains (1) summary
    cl15255
    Location:393434
    SH2; Src homology 2 (SH2) domain
  2. XM_011509163.4XP_011507465.1  SH2 domain-containing adapter protein E isoform X1

    See identical proteins and their annotated locations for XP_011507465.1

    UniProtKB/Swiss-Prot
    Q5VZ18, Q8TEQ5
    Conserved Domains (1) summary
    cd10391
    Location:393490
    SH2_SHE; Src homology 2 domain found in SH2 domain-containing adapter protein E (SHE)
  3. XM_017000256.3XP_016855745.1  SH2 domain-containing adapter protein E isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    153616622..153639550 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)