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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs2142766936 RCV001843714
GGNBP2-related disorder Benign; Likely benign; Uncertain significance rs1106908, rs142994076, rs2074735175, rs17138347 RCV003974562
RCV003944542
RCV003956750
RCV003976488
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 28639078, 33541344
Diabetes Mellitus Associate 36109160
Glioma Inhibit 28244851
Multiple Sclerosis Associate 37300932
Myoepithelioma Associate 36577525
Neoplasms Inhibit 28244851
Neoplasms Associate 36577525
Obesity Associate 37300932