Gene Gene information from NCBI Gene database.
Entrez ID 646892
Gene name SH2 domain containing 7
Gene symbol SH2D7
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q25.1
miRNA miRNA information provided by mirtarbase database.
27
miRTarBase ID miRNA Experiments Reference
MIRT1344388 hsa-miR-2964a-5p CLIP-seq
MIRT1344389 hsa-miR-3187-3p CLIP-seq
MIRT1344390 hsa-miR-3614-5p CLIP-seq
MIRT1344391 hsa-miR-4435 CLIP-seq
MIRT1344392 hsa-miR-4701-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NKC9
Protein name SH2 domain-containing protein 7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 51 126 SH2 domain Domain
Sequence
MEDSLKQLSLGRDPEGAGDSQALAELQELALKWFMETQAPFILQNGALPPWFHGFITRKQ
TEQLLRDKALGSFLIRLSDRATGYILSYRGSDRCRHFVINQLRNRRYIISGDTQSHSTLA
ELVHHY
QEAQLEPFKEMLTAACPRPEDNDLYDAITRGLHQTIVDPENPPATAFLTVVPDK
AASPRSSPKPQVSFLHAQKSLDVSPRNLSQEESMEAPIRVSPLPEKSSSLLEESFGGPSD
IIYADLRRMNQARLGLGTEGSGRHGPVPAGSQAYSPGREAQRRLSDGEQNRPDGLGPVLS
GVSPDQGPTESPTSWGCSDAMGSLGATWRQEFPKLSQEAQPCSQGSSADIYEFIGTEGLL
QEARDTPDQEGSTYEQIPACWGGPARAPHPGASPTYSPWVHGYKRISGTPELSEPGNTYE
QIPATKSKETGRTHKPDKLRRLFFTYRKHKF
Sequence length 451
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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 48 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations