Gene Gene information from NCBI Gene database.
Entrez ID 388336
Gene name Shisa family member 6
Gene symbol SHISA6
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p12
miRNA miRNA information provided by mirtarbase database.
446
miRTarBase ID miRNA Experiments Reference
MIRT625318 hsa-miR-6887-3p HITS-CLIP 23824327
MIRT625317 hsa-miR-6795-3p HITS-CLIP 23824327
MIRT625310 hsa-miR-205-5p HITS-CLIP 23824327
MIRT653846 hsa-miR-6841-3p HITS-CLIP 23824327
MIRT653845 hsa-miR-1915-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0007283 Process Spermatogenesis IEA
GO:0007283 Process Spermatogenesis ISS
GO:0014069 Component Postsynaptic density IBA
GO:0014069 Component Postsynaptic density IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617327 34491 ENSG00000188803
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZSJ9
Protein name Protein shisa-6
Protein function Involved in maintenance of high-frequency synaptic transmission at hippocampal CA3-CA1 synapses. Regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13908 Shisa 91 282 Wnt and FGF inhibitory regulator Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the developing ventral mesencephalon. {ECO:0000269|PubMed:16473350}.
Sequence
MALRRLLLLLLLSLESLDLLPSVHGARGRAANRTLSAGGAAVGGRRAGGALARGGRELNG
TARAPGIPEAGSRRGQPAAAVAAAASAAVTYETCWGYYDVSGQYDKEFECNNSESGYLYC
CGTCYYRFCCKKRHEKLDQRQCTNYQSPVWVQTPSTKVVSPGPENKYDPEKDKTNFTVYI
TCGVIAFVIVAGVFAKVSYDKAHRPPREMNIHRALADILRQQGPIPIAHCERETISAIDT
SPKENTPVRSSSKNHYTPVRTAKQTPEKPRMNNILTSATEPY
DLSFSRSFQNLAHLPPSY
ESAVKTNPSKYSSLKRLTDKEADEYYMRRRHLPDLAARGTLPLNVIQMSQQKPLPRERPR
RPIRAMSQDRVLSPDRGLPDEFSMPYDRILSDEQLLSTERLHSQDPLLSPERTAFPEQSL
SRAISHTDVFVSTPVLDRYRMSKMHSHPSASNNSYATLGQSQTAAKRHAFASRRHNTVEQ
LHYIPGHHTCYTASKTEVTV
Sequence length 500
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DYSPLASIA OF THE HIP GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EYE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Endometriosis Endometriosis Pubtator 39408909 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 37181702 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Myopia Myopia BEFREE 25587058
★☆☆☆☆
Found in Text Mining only
Myopia Myopia GWASCAT_DG 27182965
★☆☆☆☆
Found in Text Mining only
Myopia Myopia Pubtator 37181702 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 37181702 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Severe myopia Myopia BEFREE 24150758
★☆☆☆☆
Found in Text Mining only