Gene Gene information from NCBI Gene database.
Entrez ID 51527
Gene name GSK3B interacting protein
Gene symbol GSKIP
Synonyms (NCBI Gene)
C14orf129HSPC210
Chromosome 14
Chromosome location 14q32.2
Summary This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-ca
miRNA miRNA information provided by mirtarbase database.
40
miRTarBase ID miRNA Experiments Reference
MIRT559864 hsa-miR-548ac PAR-CLIP 20371350
MIRT559863 hsa-miR-548bb-3p PAR-CLIP 20371350
MIRT559862 hsa-miR-548d-3p PAR-CLIP 20371350
MIRT559861 hsa-miR-548h-3p PAR-CLIP 20371350
MIRT559860 hsa-miR-548z PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0004860 Function Protein kinase inhibitor activity IDA 19830702
GO:0004860 Function Protein kinase inhibitor activity IMP 16981698
GO:0005515 Function Protein binding IPI 20007971, 20368287, 23602568, 25920809, 27484798, 33961781, 35271311
GO:0005634 Component Nucleus IDA 20007971
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616605 20343 ENSG00000100744
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0R6
Protein name GSK3B-interacting protein (GSKIP) (GSK3beta interaction protein)
Protein function A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:16981698, PubMed:25920809, PubMed:27484798). The ternary complex enhances Wnt-induced signaling by facilitating the GS
PDB 1SGO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05303 DUF727 33 133 Protein of unknown function (DUF727) Family
Tissue specificity TISSUE SPECIFICITY: Detected in heart, brain, placenta, liver, skeletal muscle, kidney, testis, lung and pancreas. {ECO:0000269|PubMed:16981698}.
Sequence
Sequence length 139
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GSKIP-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDERS CTD
★★☆☆☆
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
Carcinogenesis Carcinogenesis Pubtator 36550871 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 27484798 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Monocytic, Chronic Monocytic Leukemia CTD_human_DG 26280900
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29055955
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26280900
★☆☆☆☆
Found in Text Mining only
Meningioma Meningioma Pubtator 36550871 Associate
★☆☆☆☆
Found in Text Mining only
Myeloid Leukemia Myeloid Leukemia CTD_human_DG 26280900
★☆☆☆☆
Found in Text Mining only
Myeloproliferative disease Myeloproliferative disorder CTD_human_DG 26280900
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 27484798 Associate
★☆☆☆☆
Found in Text Mining only