Aliases for SHE Gene

Aliases for SHE Gene

  • Src Homology 2 Domain Containing E 2 3 5
  • SH2 Domain-Containing Adapter Protein E 3 4

External Ids for SHE Gene

Previous GeneCards Identifiers for SHE Gene

  • GC01M151266
  • GC01M152718
  • GC01M125815

Summaries for SHE Gene

GeneCards Summary for SHE Gene

SHE (Src Homology 2 Domain Containing E) is a Protein Coding gene. Diseases associated with SHE include Blepharoconjunctivitis and Spinal Muscular Atrophy, Type Iv. An important paralog of this gene is SHB.

Additional gene information for SHE Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SHE Gene

Genomics for SHE Gene

GeneHancer (GH) Regulatory Elements for SHE Gene

Promoters and enhancers for SHE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J154499 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 512.2 +1.3 1312 4.2 MYC USF1 ZFX GABPA HDAC2 EZH2 CEBPB REST CEBPG YY1 TDRD10 SHE IL6R GBA ENSG00000273110
GH01J154473 Enhancer 1.2 Ensembl ENCODE dbSUPER 21.3 +24.7 24711 7.8 CTCF ZIC2 ZBTB10 REST ZBTB25 RAD21 TRIM22 SMC3 OSR2 NR2F2 IL6R SHE UBE2Q1-AS1 UBE2Q1 TDRD10 CHRNB2 IL6R-AS1 RNU7-57P ATP8B2 SNORA58B
GH01J154403 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.3 +95.6 95565 6.9 CTCF NRF1 MYC POLR2G SP1 FOS ZNF10 EP300 ZIC2 POLR2A IL6R IL6R-AS1 ATP8B2 RNU7-57P AQP10 UBE2Q1-AS1 UBE2Q1 SHE TDRD10 SNORA58B
GH01J154384 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 10.3 +116.2 116237 2.5 POLR2G MYC CTBP1 SKI TRIM22 HINFP RELA TAF9B ZSCAN9 POLR2A ATP8B2 IL6R-AS1 RNU7-57P UBE2Q1-AS1 UBE2Q1 SHE TDRD10 C1orf189 SNAPIN UBAP2L
GH01J154492 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 10.4 +9.2 9216 2 ZBTB11 NR2F2 MEF2B NBN SPI1 EBF1 IKZF1 FOXP2 ATF2 GATA2 TDRD10 UBE2Q1-AS1 UBE2Q1 RNU7-57P ATP8B2 SHE ADAR C1orf189 GBA ENSG00000273110
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHE on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SHE

Top Transcription factor binding sites by QIAGEN in the SHE gene promoter:
  • AREB6
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Elk-1

Genomic Locations for SHE Gene

Genomic Locations for SHE Gene
chr1:154,469,637-154,502,412
(GRCh38/hg38)
Size:
32,776 bases
Orientation:
Minus strand
chr1:154,442,248-154,474,589
(GRCh37/hg19)
Size:
32,342 bases
Orientation:
Minus strand

Genomic View for SHE Gene

Genes around SHE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHE Gene

Proteins for SHE Gene

  • Protein details for SHE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZ18-SHE_HUMAN
    Recommended name:
    SH2 domain-containing adapter protein E
    Protein Accession:
    Q5VZ18
    Secondary Accessions:
    • Q8TEQ5

    Protein attributes for SHE Gene

    Size:
    495 amino acids
    Molecular mass:
    53950 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SHE Gene

Post-translational modifications for SHE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHE Gene

No data available for DME Specific Peptides for SHE Gene

Domains & Families for SHE Gene

Gene Families for SHE Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SHE Gene

Blocks:
  • SH2 domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHE Gene

GenScript: Design optimal peptide antigens:
  • Src homology 2 domain containing E (B7ZLF1_HUMAN)
  • SH2 domain-containing adapter protein E (SHE_HUMAN)
genes like me logo Genes that share domains with SHE: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SHE Gene

Function for SHE Gene

Phenotypes From GWAS Catalog for SHE Gene

Gene Ontology (GO) - Molecular Function for SHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IBA 21873635
GO:0005515 protein binding IPI 24728074
genes like me logo Genes that share ontologies with SHE: view
genes like me logo Genes that share phenotypes with SHE: view

Animal Model Products

CRISPR Products

miRNA for SHE Gene

miRTarBase miRNAs that target SHE

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHE Gene

Localization for SHE Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHE gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SHE Gene

Pathways & Interactions for SHE Gene

PathCards logo

SuperPathways for SHE Gene

No Data Available

Gene Ontology (GO) - Biological Process for SHE Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SHE Gene

Drugs & Compounds for SHE Gene

No Compound Related Data Available

Transcripts for SHE Gene

mRNA/cDNA for SHE Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHE Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2:

Relevant External Links for SHE Gene

GeneLoc Exon Structure for
SHE

Expression for SHE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SHE Gene

This gene is overexpressed in Brain (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SHE Gene



Protein tissue co-expression partners for SHE Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SHE

SOURCE GeneReport for Unigene cluster for SHE Gene:

Hs.591481

Evidence on tissue expression from TISSUES for SHE Gene

  • Spleen(4.3)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with SHE: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHE Gene

Orthologs for SHE Gene

This gene was present in the common ancestor of animals.

Orthologs for SHE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHE 31 30
  • 95.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SHE 31 30
  • 87.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SHE 31 30
  • 85.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia She 17 31 30
  • 84.06 (n)
rat
(Rattus norvegicus)
Mammalia She 30
  • 83.44 (n)
oppossum
(Monodelphis domestica)
Mammalia SHE 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHE 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHE 31 30
  • 69.8 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia she 30
  • 64.44 (n)
zebrafish
(Danio rerio)
Actinopterygii she 31 30
  • 58.91 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43921 31
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3099 31
  • 21 (a)
OneToOne
Species where no ortholog for SHE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SHE Gene

ENSEMBL:
Gene Tree for SHE (if available)
TreeFam:
Gene Tree for SHE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHE: view image

Paralogs for SHE Gene

Paralogs for SHE Gene

(3) SIMAP similar genes for SHE Gene using alignment to 4 proteins:

  • SHE_HUMAN
  • B7ZLF1_HUMAN
  • H0YJQ6_HUMAN
  • H0YJR4_HUMAN
genes like me logo Genes that share paralogs with SHE: view

Variants for SHE Gene

Additional dbSNP identifiers (rs#s) for SHE Gene

Structural Variations from Database of Genomic Variants (DGV) for SHE Gene

Variant ID Type Subtype PubMed ID
dgv584n54 CNV gain 21841781
dgv585n54 CNV gain 21841781
esv23279 CNV loss 19812545
nsv521887 CNV gain 19592680
nsv547942 CNV gain+loss 21841781
nsv547954 CNV loss 21841781

Variation tolerance for SHE Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHE Gene

Human Gene Mutation Database (HGMD)
SHE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHE

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SHE Gene

Disorders for SHE Gene

MalaCards: The human disease database

(2) MalaCards diseases for SHE Gene - From: DISEASES

Disorder Aliases PubMed IDs
blepharoconjunctivitis
spinal muscular atrophy, type iv
  • sma4
- elite association - COSMIC cancer census association via MalaCards
Search SHE in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with SHE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHE Gene

Publications for SHE Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PMID: 12693554) Jikuya H … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2003) 3 4 54
  4. Identification and characterization of two novel SH2 domain-containing proteins from a yeast two hybrid screen with the ABL tyrosine kinase. (PMID: 9315092) Oda T … Druker BJ (Oncogene 1997) 2 3 54
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 54

Products for SHE Gene

Sources for SHE Gene