Gene Gene information from NCBI Gene database.
Entrez ID 126669
Gene name Src homology 2 domain containing E
Gene symbol SHE
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
406
miRTarBase ID miRNA Experiments Reference
MIRT022447 hsa-miR-124-3p Microarray 18668037
MIRT023676 hsa-miR-1-3p Microarray 18668037
MIRT714519 hsa-miR-508-5p HITS-CLIP 19536157
MIRT714518 hsa-miR-25-3p HITS-CLIP 19536157
MIRT714517 hsa-miR-32-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0001784 Function Phosphotyrosine residue binding IBA
GO:0005515 Function Protein binding IPI 24728074, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610482 27004 ENSG00000169291
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VZ18
Protein name SH2 domain-containing adapter protein E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 395 471 SH2 domain Domain
Sequence
MQWSPTPGASACLGWASSLACSTAPTLLGRAGRGPLMAAKWFKEFPLNLKTVSERAKPGG
GGGKLRKNSEAGGAGPGPGKGRKNSAAELGSGRAGVGPKDSRLSRDSLQGLIQAAAGKGR
KNSRATEEEPHRGATKSSGCSTYINRLIKVDTQEKNGKSNYPSSSSSSSSSSSSASSSPS
SLGPELDKGKIIKQQETVIILEDYADPYDAKRTKGQRDAERVGENDGYMEPYDAQQMITE
IRRRGSKDPLVKALQLLDSPCEPADGGLKSETLAKRRSSKDLLGKPPQLYDTPYEPAEGG
PRAEGKARPPDSRLPENDERPAAEYEQPWEWKKEQIVRALSVQFEGAERPSFREETVRQH
HRQKSWTQKILKPALSDHSEGEKVDPGLPLEKQPWYHGAISRAEAESRLQPCKEAGYLVR
NSESGNSRYSIALKTSQGCVHIIVAQTKDNKYTLNQTSAVFDSIPEVVHYY
SNEKLPFKG
AEHMTLLYPVHSKLH
Sequence length 495
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MENTAL OR BEHAVIOURAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSYCHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations