Setd5 Gene Summary [Mouse]
Enables histone H3K36 methyltransferase activity; histone H3K9 methyltransferase activity; and transcription corepressor activity. Involved in several processes, including regulation of DNA-templated transcription; regulation of chromatin organization; and regulation of synapse assembly. Located in euchromatin and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 23. Orthologous to human SETD5 (SET domain containing 5). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Setd5 |
| Official Name | SET domain containing 5 [Source:MGI Symbol;Acc:MGI:1920145] |
| Ensembl ID | ENSMUSG00000034269 |
| Bio databases IDs | |
| Aliases | SET domain containing 5 |
| Synonyms | 2900045N06Rik, C330007C20, mKIAA1757, MRD23, RGD1310433, SETD5A, SET domain containing 5 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Setd5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone lysine N-methyltransferase activity (H3-K9 specific)
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- histone lysine N-methyltransferase activity (H3-K36 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- transcription co-repressor
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant mental retardation type 23
- neurodevelopmental disorder
- pervasive developmental disorder
- hereditary disorder
- mental retardation
- syndromic complex neurodevelopmental disorder
- developmental disorder
- metabolic syndrome X
- castration refractory prostate cancer
- non-insulin-dependent diabetes mellitus
phenotypes
- abnormal auditory brainstem response
- abnormal coat/hair pigmentation
- abnormal cranium morphology
- abnormal incisor morphology
- abnormal maxilla morphology
- abnormal snout morphology
- abnormal tooth morphology
- absent pinna reflex
- decreased circulating glucose level
- decreased fasting circulating glucose level
- decreased grip strength
- increased monocyte cell number
- increased regulatory T cell number
- preweaning lethality complete penetrance
- vertebral fusion
- abnormal aortic valve cusp morphology
- abnormal cervical rib
- abnormal chorion morphology
- abnormal coronary sinus morphology
- abnormal ductus venosus topology
- abnormal ductus venosus valve topology
- abnormal eye muscle morphology
- abnormal forebrain morphology
- abnormal heart morphology
- abnormal hepatic portal vein connection
- abnormal hindbrain morphology
- abnormal hypoglossal nerve topology
- abnormal myocardial trabeculae morphology
- abnormal myocardium layer morphology
- abnormal olfactory bulb morphology
- abnormal optic cup morphology
- abnormal optic stalk morphology
- abnormal pineal gland morphology
- abnormal placenta labyrinth morphology
- abnormal placenta morphology
- abnormal placental labyrinth vasculature morphology
- abnormal somite development
- abnormal superior vena cava morphology
- abnormal tail bud morphology
- abnormal thymus morphology
- abnormal trophoblast layer morphology
- abnormal vascular development
- abnormal vascular plexus formation
- abnormal vertebral artery topology
- abnormal visceral yolk sac morphology
- abnormal vitelline vasculature morphology
- abnormal vitelline vein connection
- abnormal vitelline vein topology
- absent brachiocephalic trunk
- absent ductus venosus valve
- absent pectinate muscle
- absent segment of posterior cerebral artery
- anastomosis between internal carotid artery and basilar artery
- atrial septal defect
- bicuspid aortic valve
- blood in lymph vessels
- decreased embryo size
- dilated hepatic portal vein
- disorganized yolk sac vascular plexus
- double inlet heart left ventricle
- double outlet right ventricle
- dual inferior vena cava
- ductus venosus stenosis
- embryonic growth retardation
- embryonic lethality during organogenesis complete penetrance
- enlarged heart
- enlarged liver sinusoidal spaces
- enlarged lymphatic vessel
- enlarged orbital veins
- enlarged paraumbilical vein
- fetal growth retardation
- fusion of vertebral arches
- hemorrhage
- increased embryonic tissue cell apoptosis
- intraembryonal intestine elongation
- lethality throughout fetal growth and development complete penetrance
- muscular ventricular septal defect
- pericardial effusion
- perimembraneous ventricular septal defect
- persistent right dorsal aorta
- persistent truncus arteriosis
- reduced sympathetic cervical ganglion size
- right aortic arch
- small kidney
- small superior cervical ganglion
- small thymus
- small thyroid gland
- subcutaneous edema
- symmetric azygos veins
role in cell
- expression in
- organization
- binding in
- O-GlcNAcylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Setd5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- cognition
- negative regulation of transcription from RNA polymerase III promoter
- regulation of transcription elongation, DNA-dependent
- regulation of transcription, DNA-dependent
- regulation of synapse assembly
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- euchromatin
- Rpd3L-Expanded complex
- Set3 complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription corepressor activity
- methylated histone residue binding
- histone methyltransferase activity (H3-K9 specific)
- histone methyltransferase activity (H3-K36 specific)