EZHIP (EZH inhibitory protein)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 340602
Gene name EZH inhibitory protein
Gene symbol EZHIP
Synonyms (NCBI Gene)
CATACOMBCXorf67KIP75
Chromosome X
Chromosome location Xp11.22
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29909548, 30923826, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 29909548, 30923826
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
301036 33738 ENSG00000187690
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86X51
Protein name EZH inhibitory protein
Protein function Inhibits PRC2/EED-EZH1 and PRC2/EED-EZH2 complex function by inhibiting EZH1/EZH2 methyltransferase activity, thereby causing down-regulation of histone H3 trimethylation on 'Lys-27' (H3K27me3) (PubMed:29909548, PubMed:30923826, PubMed:31086175,
Family and domains
Tissue specificity TISSUE SPECIFICITY: In testis, detected in male germ cells inside the seminiferous tubules, especially in spermatogonia and round spermatids (at protein level) (PubMed:31451685). In the ovary, expressed in primordial follicles and oocytes but not the exte
Sequence 
MATQSDMEKEQKHQQDEGQGGLNNETALASGDACGTGNQDPAASVTTVSSQASPSGGAAL
SSSTAGSSAAAATSAAIFITDEASGLPIIAAVLTERHSDRQDCRSPHEVFGCVVPEGGSQ
AAVGPQKATGHADEHLAQTKSPGNSRRRKQPCRNQAAPAQKPPGRRLFPEPLPPSSPGFR
PSSYPCSGASTSSQATQPGPALLSHASEARPATRSRITLVASALRRRASGPGPVIRGCTA
QPGPAFPHRATHLDPARLSPESAPGPARRGRASVPGPARRGCDSAPGPARRGRDSAPVSA
PRGRDSAPGSARRGRDSAPGPALRVRTARSDAGHRSTSTTPGTGLRSRSTQQRSALLSRR
SLSGSADENPSCGTGSERLAFQSRSGSPDPEVPSRASPPVWHAVRMRASSPSPPGRFFLP
IPQQWDESSSSSYASNSSSPSRSPGLSPSSPSPEFLGLRSISTPSPESLRYALMPEFYAL
SPVPPEEQAEIESTAHPATPPEP
Sequence length 503
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
PROSTATE CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Endometrial Stromal Sarcoma Endometrial Stromal Sarcoma BEFREE 23959973, 24530230
★★★★★
★☆☆☆☆
Found in Text Mining only
Ependymoma Ependymoma BEFREE 29909548, 30923826, 31086175
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 31281901 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of brain Brain Neoplasms BEFREE 23959973
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 23959973, 29909548, 30923826
★★★★★
★☆☆☆☆
Found in Text Mining only
Sarcoma Endometrial Stromal Endometrial stromal sarcoma Pubtator 31281901 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only