C19orf33 (chromosome 19 open reading frame 33)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 64073
Gene name Chromosome 19 open reading frame 33
Gene symbol C19orf33
Synonyms (NCBI Gene)
H2RSPIMUPIMUP-1IMUP-2
Chromosome 19
Chromosome location 19q13.2
Summary The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0003690 Function Double-stranded DNA binding IDA 11080599
GO:0003697 Function Single-stranded DNA binding IDA 11080599
GO:0005634 Component Nucleus IDA 11080599, 11606055
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
619711 16668 ENSG00000167644
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.
Q9GZP8
Protein name Immortalization up-regulated protein (Hepatocyte growth factor activator inhibitor type 2-related small protein) (H2RSP) (HAI-2-related small protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15761 IMUP 1 → 106 Immortalisation up-regulated protein Family
Sequence
Sequence length 106
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 (1)
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
CARCINOMA, PANCREATIC DUCTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Blood Coagulation Disorders Blood coagulation disorder Pubtator 21829388 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29271998 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18507030, 33094920 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 35142956 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colitis Colitis LHGDN 16189703
★★★★★
★☆☆☆☆
Found in Text Mining only
Eclampsia Eclampsia BEFREE 22886722
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 18507030
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial Neoplasms LHGDN 18507030
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 18507030 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Epithelioma Epithelioma BEFREE 14981917
★★★★★
★☆☆☆☆
Found in Text Mining only