Gene Gene information from NCBI Gene database.
Entrez ID 55105
Gene name G-patch domain containing 2
Gene symbol GPATCH2
Synonyms (NCBI Gene)
CT110GPATC2PPP1R30Pfa1
Chromosome 1
Chromosome location 1q41
Summary The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [pro
miRNA miRNA information provided by mirtarbase database.
91
miRTarBase ID miRNA Experiments Reference
MIRT020254 hsa-miR-130b-3p Sequencing 20371350
MIRT028123 hsa-miR-93-5p Sequencing 20371350
MIRT029984 hsa-miR-26b-5p Microarray 19088304
MIRT1028228 hsa-miR-106a CLIP-seq
MIRT1028229 hsa-miR-106b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616836 25499 ENSG00000092978
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NW75
Protein name G patch domain-containing protein 2
Protein function Enhances the ATPase activity of DHX15 in vitro.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01585 G-patch 467 511 G-patch domain Family
Tissue specificity TISSUE SPECIFICITY: Testis. {ECO:0000269|PubMed:19432882}.
Sequence
MFGAAGRQPIGAPAAGNSWHFSRTMEELVHDLVSALEESSEQARGGFAETGDHSRSISCP
LKRQARKRRGRKRRSYNVHHPWETGHCLSEGSDSSLEEPSKDYRENHNNNKKDHSDSDDQ
MLVAKRRPSSNLNNNVRGKRPLWHESDFAVDNVGNRTLRRRRKVKRMAVDLPQDISNKRT
MTQPPEGCRDQDMDSDRAYQYQEFTKNKVKKRKLKIIRQGPKIQDEGVVLESEETNQTNK
DKMECEEQKVSDELMSESDSSSLSSTDAGLFTNDEGRQGDDEQSDWFYEKESGGACGITG
VVPWWEKEDPTELDKNVPDPVFESILTGSFPLMSHPSRRGFQARLSRLHGMSSKNIKKSG
GTPTSMVPIPGPVGNKRMVHFSPDSHHHDHWFSPGARTEHDQHQLLRDNRAERGHKKNCS
VRTASRQTSMHLGSLCTGDIKRRRKAAPLPGPTTAGFVGENAQPILENNIGNRMLQNMGW
TPGSGLGRDGKGISEPIQAMQRPKGLGLGFP
LPKSTSATTTPNAGKSA
Sequence length 528
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY 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
Arthritis Arthritis BEFREE 14643638
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19432882
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19432882 Associate
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 19432882 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19432882
★☆☆☆☆
Found in Text Mining only
Proliferative diabetic retinopathy Proliferative Diabetic Retinopathy GWASCAT_DG 30487263
★★☆☆☆
Found in Text Mining + Unknown/Other Associations