SETSIP

protein-coding

SET like protein

Gene summary

Enables chromatin binding activity. Involved in endothelial cell differentiation and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; lipid droplet; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

SETP18

MANE transcript

NM_001287737.2

Inheritance

—

ClinVar variants

P:1

Top phenotype

Intellectual disability, autosomal dominant 58

Max pathogenic AF

—

Genomic locus

chr1:92,074,533-92,075,411

External References & Databases

Ensembl (ENSG00000230667)

Transcript & Mutation Effects

hg38 • Region Span ~0.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SETSIP variants in ClinVar

1 Conditions Cataloged

Intellectual disability, autosomal dominant 58Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001287737.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous	1 clinvar					1
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	0	0	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001287737.2	RefSeq	NP_001274666.2	1	MANE Select
ENST00000596516.3	Ensembl	ENSP00000480946.2	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nucleosome assembly
endothelial cell differentiation
positive regulation of transcription by RNA polymerase II

Molecular Function

chromatin binding

Cellular Component

nucleus
nucleoplasm
cytoplasm
lipid droplet

dbNSFP Gene Annotations

Source: dbNSFP

Function: 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 (in vitro). Involved in the transcription induction of vascular endothelial-cadherin (VE-cadherin) expression. Associates to the VE-cadherin gene promoter. {ECO:0000269|PubMed:22869753}.;