SETSIP (SET like protein)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 646817
Gene name SET like protein
Gene symbol SETSIP
Synonyms (NCBI Gene)
SETP18
Chromosome 1
Chromosome location 1p22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 22869753
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 22869753
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
HGNC N/A HGNC
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.
P0DME0
Protein name Protein SETSIP (SET pseudogene protein 18) (SET similar protein) (Similar to SET translocation protein)
Protein function Plays a role as a transcriptional activator involved in the early stage of somatic cell reprogramming. Promotes the differentiation of protein-induced pluripotent stem (PiPS) cells into endothelial cells and the formation of vascular-like tubes
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00956 NAP 98 → 297 Nucleosome assembly protein (NAP) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial cell (EC) and protein-induced pluripotent stem (PiPS) endothelial cell (EC) (at protein level). {ECO:0000269|PubMed:22869753}.
Sequence
Sequence length 302
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 Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability, autosomal dominant 58 Pathogenic rs2526281838 RCV002286449
★★★★★
★★★★☆
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
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations