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

    Gene ID: 126669, updated on 2-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Broad expression in testis (RPKM 8.7), lung (RPKM 6.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SHE in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154469637..154502412, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153606788..153639550, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 1356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154378343-154378949 Neighboring gene IL6R antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154390689-154391202 Neighboring gene interleukin 6 receptor Neighboring gene proteasome 26S subunit, non-ATPase, 8 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154399170-154399670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154399671-154400171 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154404493-154405326 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154405327-154406158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154406159-154406992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154417761-154418260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154437441-154437942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154461067-154461569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154461570-154462071 Neighboring gene tudor domain containing 10 Neighboring gene Sharpr-MPRA regulatory region 5559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1779 Neighboring gene UBE2Q1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154530992-154531573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154531574-154532154 Neighboring gene ubiquitin conjugating enzyme E2 Q1 Neighboring gene uncharacterized LOC107985206

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reports data for mouse She and not human.
      Title: Identification and characterization of two novel SH2 domain-containing proteins from a yeast two hybrid screen with the ABL tyrosine kinase.
    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
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    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_001010846.3 → NP_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
      UniProtKB/TrEMBL
      B7ZLF1
      Related
      ENSP00000307369.2, ENST00000304760.3
      Conserved Domains (1) summary
      cd10391
      Location:393 → 490
      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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_005244948.1

      UniProtKB/TrEMBL
      B7ZLF1
      Conserved Domains (1) summary
      cl15255
      Location:393 → 434
      SH2; Src homology 2 (SH2) domain

    2. XM_011509163.4 → XP_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
      UniProtKB/TrEMBL
      B7ZLF1
      Conserved Domains (1) summary
      cd10391
      Location:393 → 490
      SH2_SHE; Src homology 2 domain found in SH2 domain-containing adapter protein E (SHE)

    3. XM_017000256.3 → XP_016855745.1  SH2 domain-containing adapter protein E isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      153606788..153639550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334246.1 → XP_054190221.1  SH2 domain-containing adapter protein E isoform X2

    2. XM_054334245.1 → XP_054190220.1  SH2 domain-containing adapter protein E isoform X1

      UniProtKB/Swiss-Prot
      Q5VZ18, Q8TEQ5

    3. XM_054334247.1 → XP_054190222.1  SH2 domain-containing adapter protein E isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VZ18.1 GenPept UniProtKB/Swiss-Prot:Q5VZ18

    Gene LinkOut

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

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