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Gene Gene information from NCBI Gene database.
Entrez ID 253635
Gene name G-patch domain containing 11
Gene symbol GPATCH11
Synonyms (NCBI Gene)
CCDC75CENP-YCENPY
Chromosome 2
Chromosome location 2p22.2
miRNA miRNA information provided by mirtarbase database.
422 Show/Hide all (422)
miRTarBase ID miRNA Experiments Reference
MIRT016322 hsa-miR-193b-3p Microarray 20304954
MIRT050477 hsa-miR-20a-5p CLASH 23622248
MIRT503745 hsa-miR-590-3p HITS-CLIP 21572407
MIRT503744 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT503743 hsa-miR-410-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IBA
GO:0000776 Component Kinetochore IDA 20813266
GO:0000776 Component Kinetochore IEA
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621183 26768 ENSG00000152133
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N954
Protein name G patch domain-containing protein 11 (Coiled-coil domain-containing protein 75)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01585 G-patch 96 → 139 G-patch domain Family
PF13821 DUF4187 218 → 284 Domain of unknown function (DUF4187) Domain
Sequence
MRSARSTALNRGEQRAVRYYSHMKLNMAEEEDYMSDSFINVQEDIRPGLPMLRQIREARR
KEEKQQEANLKNRQKSLKEEEQERRDIGLKNALGCENKGFALLQKMGYKSGQALGKSGGG
IVEPIPLNIKTGKSGIGHE
ASLKRKAEEKLESYRKKIHMKNQAEEKAAEQFRMRLKNKQD
EMKLEGDLRRSQRACQQLDVQKNIQVPREAWYWLRLEEETEEDEEEKEQDEDEYKSEDLS
VLEKLQILTSYLREEHLYCIWCGTAYEDKEDLSSNCPGPTSADH
D
Sequence length 285
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia Pathogenic rs1407579456, rs574837250, rs770171252, rs2466837412 RCV003985690
RCV003985691
RCV003985692
RCV003985693
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Prostatic Neoplasms Prostatic neoplasm Pubtator 19568772 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only