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GeneBe

FLCN

folliculin, the group of DENN domain containing

Basic information

Region (hg38): 17:17212211-17237188

Links

ENSG00000154803 ∙ NCBI:201163 ∙ OMIM:607273 ∙ HGNC:27310 ∙ Uniprot:Q8NFG4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • Birt-Hogg-Dube syndrome (Strong), mode of inheritance: AD
  • renal carcinoma (Strong), mode of inheritance: AD
  • familial spontaneous pneumothorax (Strong), mode of inheritance: AD
  • Birt-Hogg-Dube syndrome (Strong), mode of inheritance: AD
  • familial spontaneous pneumothorax (Moderate), mode of inheritance: AD
  • Birt-Hogg-Dube syndrome (Definitive), mode of inheritance: AD
  • familial spontaneous pneumothorax (Supportive), mode of inheritance: AD
  • Birt-Hogg-Dube syndrome (Supportive), mode of inheritance: AD
  • colorectal cancer (Limited), mode of inheritance: AD
  • Birt-Hogg-Dube syndrome (Definitive), mode of inheritance: AD
  • Birt-Hogg-Dube syndrome (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Birt-Hogg-Dube syndrome 1; Pneumothorax, primary spontaneousADOncologic; PulmonaryIndividuals are at risk for a number of types of neoplasms, and surveillance and early diagnosis/treatment may be beneficial; Some individuals may demonstrate isolated pneumothorax, but may be at elevated risk for malignancies; Affected individuals commonly have recurrent pneumothoraces, and early pleurodesis may beneficial)Dermatologic; Oncologic; Pulmonary596896; 10522666; 11533913; 12471204; 12204536; 15657874; 15852235; 17496196; 18505456; 18234728; 19320655; 20413710; 20618353; 22146830; 23264078; 23414156; 23542717; 23715758; 23846428; 23995526

ClinVar

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

  • Birt-Hogg-Dube syndrome (1572 variants)
  • Hereditary cancer-predisposing syndrome (1079 variants)
  • not provided (410 variants)
  • not specified (153 variants)
  • Familial spontaneous pneumothorax (104 variants)
  • FLCN-related condition (22 variants)
  • Ovarian cancer (12 variants)
  • Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Colorectal cancer;Nonpapillary renal cell carcinoma (9 variants)
  • Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Colorectal cancer;Potocki-Lupski syndrome (6 variants)
  • Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Colorectal cancer (5 variants)
  • Spontaneous pneumothorax (5 variants)
  • Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Colorectal cancer (4 variants)
  • Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome (4 variants)
  • Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma (4 variants)
  • Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma (4 variants)
  • Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Colorectal cancer;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma (4 variants)
  • Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Colorectal cancer;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma (3 variants)
  • Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer (3 variants)
  • Colorectal cancer;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome (3 variants)
  • Birt-Hogg-Dube syndrome;Colorectal cancer;Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma (3 variants)
  • Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer (3 variants)
  • Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Colorectal cancer (3 variants)
  • Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer (2 variants)
  • Potocki-Lupski syndrome (2 variants)
  • Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Colorectal cancer (2 variants)
  • Carcinoma of colon (2 variants)
  • Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma (2 variants)
  • Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Colorectal cancer (2 variants)
  • Hereditary breast ovarian cancer syndrome (2 variants)
  • Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer;Potocki-Lupski syndrome;Familial spontaneous pneumothorax (2 variants)
  • Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Colorectal cancer;Birt-Hogg-Dube syndrome (2 variants)
  • Birt-Hogg-Dube syndrome;Colorectal cancer;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax (2 variants)
  • Inborn genetic diseases (2 variants)
  • Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Colorectal cancer (2 variants)
  • Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer;Potocki-Lupski syndrome (2 variants)
  • Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer (2 variants)
  • Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer (2 variants)
  • Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma (2 variants)
  • Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer (2 variants)
  • Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Colorectal cancer;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma (1 variants)
  • Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Colorectal cancer (1 variants)
  • Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer;Familial spontaneous pneumothorax (1 variants)
  • Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Colorectal cancer (1 variants)
  • See cases (1 variants)
  • Familial spontaneous pneumothorax;Carcinoma of colon;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome (1 variants)
  • Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Colorectal cancer (1 variants)
  • Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Carcinoma of colon (1 variants)
  • Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Carcinoma of colon;Nonpapillary renal cell carcinoma (1 variants)
  • Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Carcinoma of colon;Potocki-Lupski syndrome (1 variants)
  • Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Colorectal cancer;Familial spontaneous pneumothorax (1 variants)
  • Exstrophy-epispadias complex (1 variants)
  • - (1 variants)
  • Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Carcinoma of colon (1 variants)
  • Colorectal cancer;Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma (1 variants)
  • Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Colorectal cancer;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax (1 variants)
  • Nonpapillary renal cell carcinoma;Colorectal cancer;Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax (1 variants)
  • Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer;Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome (1 variants)
  • Colorectal cancer;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma (1 variants)
  • Birt-Hogg-Dube syndrome;Colorectal cancer;Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma (1 variants)
  • Colorectal cancer;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome (1 variants)
  • Hereditary renal cancer (1 variants)
  • Hepatoblastoma (1 variants)
  • Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer;Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome (1 variants)
  • Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Colorectal cancer (1 variants)
  • Pilocytic astrocytoma (1 variants)
  • Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer (1 variants)
  • Nonpapillary renal cell carcinoma;Colorectal cancer;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome (1 variants)
  • Birt-Hogg-Dube syndrome;Potocki-Lupski syndrome;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Colorectal cancer (1 variants)
  • Familial spontaneous pneumothorax;Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Carcinoma of colon;Nonpapillary renal cell carcinoma (1 variants)
  • Nonpapillary renal cell carcinoma;Potocki-Lupski syndrome;Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome (1 variants)
  • Potocki-Lupski syndrome;Birt-Hogg-Dube syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLCN gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
12
clinvar
425
clinvar
2
clinvar
 440
missense
1
clinvar
7
clinvar
745
clinvar
12
clinvar
4
clinvar
 769
nonsense
52
clinvar
7
clinvar
1
clinvar
1
clinvar
 61
start loss
3
clinvar
1
clinvar
 4
frameshift
157
clinvar
19
clinvar
2
clinvar
1
clinvar
 179
inframe indel
6
clinvar
19
clinvar
 25
splice donor/acceptor (+/-2bp)
12
clinvar
34
clinvar
3
clinvar
 49
splice region
?
    Intron variants in splice region, excluding donor/acceptor (+/-2bp)
1
1
35
51
1
 89
non coding
?
    UTR, intron and other, non coding variants
37
clinvar
173
clinvar
52
clinvar
 262
Total 225 75 819 612 58

Highest pathogenic variant AF is 0.0000461

Variants in FLCN

This is a list of pathogenic ClinVar variants found in the FLCN region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-17212252-A-G Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Benign (Jan 12, 2018)322033
17-17212319-C-A Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Benign (Jan 13, 2018)322034
17-17212382-G-A Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Uncertain significance (Jan 13, 2018)322035
17-17212472-C-CT Birt-Hogg-Dube syndrome • Spontaneous pneumothorax Benign (Jun 14, 2016)322036
17-17212475-T-TA Spontaneous pneumothorax • Birt-Hogg-Dube syndrome Uncertain significance (Jun 14, 2016)322037
17-17212476-A-T Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Uncertain significance (Jan 13, 2018)322038
17-17212554-G-C Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Uncertain significance (Jan 12, 2018)889505
17-17212620-A-G Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Uncertain significance (Jan 13, 2018)889506
17-17212688-A-G Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Uncertain significance (Jan 12, 2018)322039
17-17212699-T-C Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Benign (Jan 13, 2018)322040
17-17212740-C-A Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Uncertain significance (Jan 12, 2018)890168
17-17212741-G-A Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Benign (Jan 13, 2018)322041
17-17212744-C-T Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Benign/Likely benign (Jan 12, 2018)322042
17-17212768-A-G Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Uncertain significance (Jan 12, 2018)322043
17-17212809-G-A Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Uncertain significance (Jan 13, 2018)890749
17-17212916-G-A Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Uncertain significance (Jan 13, 2018)322044
17-17212958-CCG-C Birt-Hogg-Dube syndrome • Spontaneous pneumothorax Uncertain significance (Jun 14, 2016)322045
17-17212960-G-A Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Conflicting classifications of pathogenicity (May 01, 2023)322046
17-17213021-T-G Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Uncertain significance (Jan 12, 2018)322047
17-17213098-A-G Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Benign (May 12, 2021)322048
17-17213127-C-T Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Conflicting classifications of pathogenicity (Jan 13, 2018)322049
17-17213129-A-G Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Benign/Likely benign (Jan 12, 2018)322050
17-17213213-A-G Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Benign/Likely benign (May 12, 2021)322051
17-17213230-C-T Familial spontaneous pneumothorax • Birt-Hogg-Dube syndrome Benign (May 12, 2021)322052
17-17213262-C-T Birt-Hogg-Dube syndrome • Familial spontaneous pneumothorax Benign/Likely benign (May 11, 2021)322053

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FLCNprotein_codingprotein_codingENST00000285071 1124977
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.7890.2111257230251257480.0000994
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.132933530.8310.00002453818
Missense in Polyphen5081.8570.61082910
Synonymous-0.9171631491.100.00001141132
Loss of Function3.94527.10.1840.00000135293

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.000.00
East Asian0.0002720.000272
Finnish0.000.00
European (Non-Finnish)0.0001230.000123
Middle Eastern0.0002720.000272
South Asian0.0001310.000131
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. {ECO:0000269|PubMed:12204536, ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353}.;
Disease
DISEASE: Birt-Hogg-Dube syndrome (BHD) [MIM:135150]: A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt- Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg- Dube syndrome patients. {ECO:0000269|PubMed:12204536, ECO:0000269|PubMed:15852235, ECO:0000269|PubMed:18234728, ECO:0000269|PubMed:19785621}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Primary spontaneous pneumothorax (PSP) [MIM:173600]: Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2- 6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested. {ECO:0000269|PubMed:15657874, ECO:0000269|PubMed:18505456, ECO:0000269|PubMed:18579543}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Renal cell carcinoma (RCC) [MIM:144700]: Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:18794106}. Note=The gene represented in this entry may be involved in disease pathogenesis.;
Pathway
mTOR signaling pathway - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.172

Intolerance Scores

loftool
0.0936
rvis_EVS
-0.2
rvis_percentile_EVS
39.17

Haploinsufficiency Scores

pHI
0.216
hipred
Y
hipred_score
0.647
ghis
0.614

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.276

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Flcn
Phenotype
renal/urinary system phenotype; immune system phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); embryo phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype;

Zebrafish Information Network

Gene name
flcn
Affected structure
post-vent region
Phenotype tag
abnormal
Phenotype quality
bent

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;in utero embryonic development;regulation of protein phosphorylation;positive regulation of protein phosphorylation;cell-cell junction assembly;positive regulation of autophagy;negative regulation of gene expression;negative regulation of mitochondrion organization;hemopoiesis;negative regulation of cell growth;negative regulation of cell migration;positive regulation of transforming growth factor beta receptor signaling pathway;TOR signaling;regulation of TOR signaling;negative regulation of TOR signaling;positive regulation of TOR signaling;regulation of cytokinesis;negative regulation of Rho protein signal transduction;regulation of histone acetylation;positive regulation of apoptotic process;positive regulation of cell adhesion;positive regulation of transcription by RNA polymerase II;negative regulation of protein kinase B signaling;negative regulation of ERK1 and ERK2 cascade;energy homeostasis;negative regulation of cold-induced thermogenesis;negative regulation of protein localization to nucleus;negative regulation of cell proliferation involved in kidney development;regulation of pro-B cell differentiation;negative regulation of ATP biosynthetic process
Cellular component
nucleus;cytoplasm;lysosome;cytosol;plasma membrane;cilium;midbody;cell-cell contact zone
Molecular function
guanyl-nucleotide exchange factor activity;protein binding;protein-containing complex binding