Foxn1 Gene Summary [Mouse]
The protein encoded by this gene is part of the forkhead family or "winged-helix" transcription factors that are important in developmental processes, immune system regulation, metabolism, cancer and aging. This gene family has over 100 members, subdivided into classes (A-Q) based on phylogeny. The encoded protein is proposed to regulate development of the thymus and differentiation of keratinocytes. Mutations in this gene cause severe primary T-cell immunodeficiency and congenital alopecia. In mouse mutations of this gene underlie the phenotype of the nude mouse, which has been widely used as a model system in oncology, immunology, dermatology, and transplantation studies. In humans mutations in this gene have been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
Details
| Type | Protein Coding |
| Official Symbol | Foxn1 |
| Official Name | forkhead box N1 [Source:MGI Symbol;Acc:MGI:102949] |
| Ensembl ID | ENSMUSG00000002057 |
| Bio databases IDs | |
| Aliases | forkhead box N1 |
| Synonyms | D11Bhm185e, Fkh19, FKHL20, forkhead box N1, HFH-11, nu, nude, Rnu, RONU, TIDAND, TLIND, WHN |
| 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 Foxn1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- FH_FOX
- protein binding
- sequence-specific DNA binding
- Forkhead domain
- FORKHEAD
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- common variable immunodeficiency with predominant immunoregulatory T-cell disorders
- COVID-19
- autosomal dominant infantile T-cell lymphopenia with or without nail dystrophy
- autosomal dominant infantile T-cell lymphopenia with nail dystrophy
- congenital alopecia
- immunodeficiency
- autism
- alopecia
- T-cell immunodeficiency with thymic aplasia
- severe combined immunodeficiency
phenotypes
- abnormal seminal vesicle morphology
- abnormal skin morphology
- abnormal thymus morphology
- athymia
- decreased lean body mass
- hydrometra
- increased total body fat amount
- preweaning lethality incomplete penetrance
- small superior vagus ganglion
- abnormal CD4-positive alpha beta T cell morphology
- abnormal CD8-positive alpha beta T cell morphology
- abnormal Peyer's patch germinal center morphology
- abnormal Peyer's patch morphology
- abnormal T cell activation
- abnormal T cell differentiation
- abnormal circulating cytokine level
- abnormal circulating gonadotropin level
- abnormal coat/ hair morphology
- abnormal compact bone morphology
- abnormal corneocyte morphology
- abnormal cutaneous collagen fibril morphology
- abnormal embryonic tissue morphology
- abnormal epidermal layer morphology
- abnormal epidermis stratum basale morphology
- abnormal epidermis stratum corneum morphology
- abnormal epidermis stratum granulosum morphology
- abnormal estrous cycle
- abnormal hair cortex keratinization
- abnormal hair cortex morphology
- abnormal hair cuticle
- abnormal hair follicle bulb morphology
- abnormal hair follicle development
- abnormal hair follicle inner root sheath morphology
- abnormal hair follicle morphology
- abnormal hair growth
- abnormal hair shaft morphology
- abnormal humoral immune response
- abnormal immune system cell morphology
- abnormal immune system morphology
- abnormal immune system organ morphology
- abnormal immune system physiology
- abnormal leukocyte cell number
- abnormal liver morphology
- abnormal lymph node T cell domain morphology
- abnormal lymph node morphology
- abnormal lymphocyte cell number
- abnormal muscle morphology
- abnormal nail matrix morphology
- abnormal nail morphology
- abnormal nail plate morphology
- abnormal skin pigmentation
- abnormal spleen morphology
- abnormal spleen physiology
- abnormal splenic cell ratio
- abnormal thymus development
- abnormal thymus epithelium morphology
- abnormal trabecular bone morphology
- abnormal venule morphology
- abnormal vibrissa morphology
- absent T cells
- absent thymus cortex
- absent thymus medulla
- absent vibrissae
- ascites
- asthenozoospermia
- blepharitis
- brittle hair
- cachexia
- chromosomal instability
- coiled sperm flagellum
- corneal vascularization
- curly vibrissae
- decreased CD4-positive alpha beta T cell number
- decreased T cell number
- decreased body size
- decreased body weight
- decreased circulating alanine transaminase level
- decreased circulating follicle stimulating hormone level
- decreased circulating interleukin-2 level
- decreased circulating interleukin-6 level
- decreased circulating luteinizing hormone level
- decreased circulating tumor necrosis factor level
- decreased double-negative T cell number
- decreased double-positive T cell number
- decreased immunoglobulin level
- decreased incidence of tumors by chemical induction
- decreased interferon-gamma secretion
- decreased leukocyte cell number
- decreased litter size
- decreased lymphocyte cell number
- decreased lymphoma incidence
- decreased single-positive T cell number
- decreased skeletal muscle fiber size
- decreased skeletal muscle mass
- decreased susceptibility to bacterial infection
- decreased susceptibility to parasitic infection
- decreased thymocyte number
- deformed nails
- female infertility
- hairless
- impaired spatial learning
- increased B cell number
- increased DN1 thymic pro-T cell number
- increased bone mineral density
- increased double-positive T cell number
- increased eosinophil cell number
- increased granulocyte number
- increased incidence of corneal inflammation
- increased length of allograft survival
- increased neutrophil cell number
- increased or absent threshold for auditory brainstem response
- increased plasmacytoma incidence
- increased sarcoma incidence
- increased susceptibility to Herpesvirales infection
- increased susceptibility to Herpesvirales infection induced morbidity/mortality
- lymph node hypoplasia
- nail dystrophy
- no abnormal phenotype detected
- postnatal growth retardation
- postnatal lethality incomplete penetrance
- premature death
- reduced female fertility
- reduced hair shaft melanin granule number
- reduced male fertility
- short nails
- short vibrissae
- small ovary
- small spleen
- small thymus
- sparse vibrissae
- spleen hypoplasia
- thin skin
- thymus cysts
- thymus hyperplasia
- thymus hypoplasia
- underdeveloped hair follicles
- wavy vibrissae
- wrinkled skin
role in cell
- expression in
- differentiation
- transactivation in
- expansion
- quantity
- decline
- production
- disruption
- homeostasis
- hematopoiesis
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
- cell cortex
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Foxn1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epidermis development
- T cell lineage commitment
- blood vessel morphogenesis
- defense response
- positive regulation of transcription from RNA polymerase II promoter
- T cell homeostasis
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- keratinocyte differentiation
- hair follicle development
- positive regulation of epithelial cell differentiation
- nail development
- positive regulation of hair follicle development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity