Gene Gene information from NCBI Gene database.
Entrez ID 79893
Gene name Gametogenetin binding protein 2
Gene symbol GGNBP2
Synonyms (NCBI Gene)
DIF-3DIF3LCRG1LZK1ZFP403ZNF403
Chromosome 17
Chromosome location 17q12
miRNA miRNA information provided by mirtarbase database.
58
miRTarBase ID miRNA Experiments Reference
MIRT1018157 hsa-miR-1273f CLIP-seq
MIRT1018158 hsa-miR-129-5p CLIP-seq
MIRT1018159 hsa-miR-135a CLIP-seq
MIRT1018160 hsa-miR-135b CLIP-seq
MIRT1018161 hsa-miR-199a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612275 19357 ENSG00000278311
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3C7
Protein name Gametogenetin-binding protein 2 (Laryngeal carcinoma-related protein 1) (Protein ZNF403)
Protein function May be involved in spermatogenesis.
PDB 8BFJ
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed more abundantly in heart, pancreas and skeletal muscle. {ECO:0000269|PubMed:15145523}.
Sequence
MARLVAVCRDGEEEFPFERRQIPLYIDDTLTMVMEFPDNVLNLDGHQNNGAQLKQFIQRH
GMLKQQDLSIAMVVTSREVLSALSQLVPCVGCRRSVERLFSQLVESGNPALEPLTVGPKG
VLSVTRSCMTDAKKLYTLFYVHGSKLNDMIDAIPKSKKNKRCQLHSLDTHKPKPLGGCWM
DVWELMSQECRDEVVLIDSSCLLETLETYLRKHRFCTDCKNKVLRAYNILIGELDCSKEK
GYCAALYEGLRCCPHERHIHVCCETDFIAHLLGRAEPEFAGGRRERHAKTIDIAQEEVLT
CLGIHLYERLHRIWQKLRAEEQTWQMLFYLGVDALRKSFEMTVEKVQGISRLEQLCEEFS
EEERVRELKQEKKRQKRKNRRKNKCVCDIPTPLQTADEKEVSQEKETDFIENSSCKACGS
TEDGNTCVEVIVTNENTSCTCPSSGNLLGSPKIKKGLSPHCNGSDCGYSSSMEGSETGSR
EGSDVACTEGICNHDEHGDDSCVHHCEDKEDDGDSCVECWANSEENDTKGKNKKKKKKSK
ILKCDEHIQKLGSCITDPGNRETSGNTMHTVFHRDKTKDTHPESCCSSEKGGQPLPWFEH
RKNVPQFAEPTETLFGPDSGKGAKSLVELLDESECTSDEEIFISQDEIQSFMANNQSFYS
NREQYRQHLKEKFNKYCRLNDHKRPICSGWLTTAGAN
Sequence length 697
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
DEVELOPMENTAL DISABILITIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSLEXIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GGNBP2-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28639078
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 28639078, 33541344 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30450530
★☆☆☆☆
Found in Text Mining only
Carcinoma of larynx Laryngeal carcinoma BEFREE 15145523
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 24842157, 28864131
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 36109160 Associate
★☆☆☆☆
Found in Text Mining only
Eczema Eczema GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 28244851
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 28244851 Inhibit
★☆☆☆☆
Found in Text Mining only
Intestinal Cancer Intestinal Cancer BEFREE 25913757
★☆☆☆☆
Found in Text Mining only