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

Gene ID: 126669, updated on 3-Apr-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, Apr 2022]
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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Location:
1q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154469637..154502412, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153606788..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 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
  • 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. The Shb adaptor protein binds to tyrosine 766 in the FGFR-1 and regulates the Ras/MEK/MAPK pathway via FRS2 phosphorylation in endothelial cells. Cross MJ, et al. Mol Biol Cell, 2002 Aug. PMID 12181353, Free PMC Article
  2. Identification and characterization of two novel SH2 domain-containing proteins from a yeast two hybrid screen with the ABL tyrosine kinase. Oda T, et al. Oncogene, 1997 Sep. PMID 9315092
  3. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. Jikuya H, et al. DNA Res, 2003 Feb 28. PMID 12693554
  4. Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation. Kauwe JS, et al. PLoS Genet, 2014 Oct. PMID 25340798, Free PMC Article
  5. Enhanced prediction of Src homology 2 (SH2) domain binding potentials using a fluorescence polarization-derived c-Met, c-Kit, ErbB, and androgen receptor interactome. Leung KK, et al. Mol Cell Proteomics, 2014 Jul. PMID 24728074, Free PMC Article

See all (13) citations in PubMed

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)

Genotypes

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_2023_10

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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