FOSL2

FOS like 2, AP-1 transcription factor subunit, the group of Fos transcription factor family|Basic leucine zipper proteins

Basic information

Region (hg38): 2:28392448-28417317

Links

ENSG00000075426

∙ NCBI:2355 ∙ OMIM:601575 ∙ HGNC:3798 ∙ Uniprot:P15408 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

aplasia cutis-enamel dysplasia syndrome (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Aplasia cutis-enamel dysplasia syndrome	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dental; Dermatologic; Musculoskeletal; Neurologic	36197437

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FOSL2 gene.

not_specified (33 variants)
Aplasia_cutis-enamel_dysplasia_syndrome (5 variants)
not_provided (1 variants)
Neurodevelopmental_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOSL2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005253.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			31 clinvar	2 clinvar		33
nonsense	2 clinvar					2
start loss						0
frameshift	3 clinvar	1 clinvar				4
splice donor/acceptor (+/-2bp)						0
Total	5	1	31	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOSL2	protein_coding	protein_coding	ENST00000264716	4	24865

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.983	0.0171	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.60	143	208	0.688	0.0000131	2065
Missense in Polyphen		30	71.242	0.4211		673
Synonymous	0.495	86	92.0	0.934	0.00000598	708
Loss of Function	3.26	0	12.4	0.00	6.90e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts. {ECO:0000250}.;
Pathway: Osteoclast differentiation - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;bone remodeling;Validated transcriptional targets of deltaNp63 isoforms;AP-1 transcription factor network;Validated transcriptional targets of AP1 family members Fra1 and Fra2;CD4 T cell receptor signaling-JNK cascade;CD4 T cell receptor signaling (Consensus)

Recessive Scores

pRec: 0.290

Intolerance Scores

loftool
rvis_EVS: -0.69
rvis_percentile_EVS: 14.97

Haploinsufficiency Scores

pHI: 0.894
hipred: Y
hipred_score: 0.825
ghis: 0.538

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Fosl2
Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype; skeleton phenotype;

Zebrafish Information Network

Gene name: fosl2
Affected structure: bulbus arteriosus
Phenotype tag: abnormal
Phenotype quality: increased amount

Gene ontology

Biological process: keratinocyte development;regulation of transcription by RNA polymerase II;cell death;positive regulation of transcription by RNA polymerase II;positive regulation of fibroblast proliferation
Cellular component: nucleus;nucleoplasm
Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;chromatin binding;DNA-binding transcription factor activity;protein binding