SFN

stratifin, the group of 14-3-3 phospho-serine/phospho-threonine binding proteins

Basic information

Region (hg38): 1:26863148-26864456

Links

ENSG00000175793 ∙ NCBI:2810 ∙ OMIM:601290 ∙ HGNC:10773 ∙ Uniprot:P31947 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SFN 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						0
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in SFN

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

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

Position	Type	Phenotype	Significance	ClinVar
1-26863270-G-A		not specified	Uncertain significance (Jul 30, 2023)
1-26863303-G-C		not specified	Uncertain significance (Sep 20, 2023)
1-26863306-A-G		not specified	Uncertain significance (Dec 03, 2021)
1-26863457-G-A		not specified	Uncertain significance (Dec 07, 2021)
1-26863540-G-A		not specified	Uncertain significance (Jan 29, 2024)
1-26863562-G-A		not specified	Uncertain significance (Oct 30, 2023)
1-26863694-A-G		not specified	Uncertain significance (Aug 02, 2021)
1-26863724-G-T		not specified	Uncertain significance (May 30, 2023)
1-26863748-T-A		not specified	Uncertain significance (Mar 07, 2023)
1-26863889-A-G		not specified	Uncertain significance (Jan 03, 2024)
1-26863919-G-A		not specified	Uncertain significance (Feb 06, 2024)
1-26863927-G-C		not specified	Uncertain significance (May 31, 2022)
1-26863952-A-G		not specified	Uncertain significance (Jan 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SFN	protein_coding	protein_coding	ENST00000339276	1	1315

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.365	0.624	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.40	114	164	0.694	0.0000107	1617
Missense in Polyphen		44	63.912	0.68845		654
Synonymous	2.37	52	78.8	0.660	0.00000607	494
Loss of Function	2.15	2	8.94	0.224	5.49e-7	89

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: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53. {ECO:0000269|PubMed:18382127}.
• Pathway: Cell cycle - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);miRNA Regulation of DNA Damage Response;Myometrial Relaxation and Contraction Pathways;TP53 Regulates Transcription of Cell Cycle Genes;Calcium Regulation in the Cardiac Cell;DNA Damage Response;Signal Transduction;Gene expression (Transcription);Vesicle-mediated transport;estrogen responsive protein efp controls cell cycle and breast tumors growth;Membrane Trafficking;Generic Transcription Pathway;Alpha6Beta4Integrin;Fas;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RNA Polymerase II Transcription;Activation of BAD and translocation to mitochondria ;G2/M DNA damage checkpoint;Activation of BH3-only proteins;G2/M Checkpoints;Intrinsic Pathway for Apoptosis;Cell Cycle Checkpoints;Apoptosis;FGF;Programmed Cell Death;p73 transcription factor network;insulin Mam;TP53 Regulates Metabolic Genes;RHO GTPases activate PKNs;cell cycle: g2/m checkpoint;RHO GTPase Effectors;Signaling by Rho GTPases;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;TP53 Regulates Transcription of Cell Cycle Genes;Glucocorticoid receptor regulatory network;ErbB1 downstream signaling;a6b1 and a6b4 Integrin signaling;Transcriptional Regulation by TP53;Direct p53 effectors;Cell Cycle;Translocation of GLUT4 to the plasma membrane;EGF;Regulation of nuclear beta catenin signaling and target gene transcription;mTOR signaling pathway;Insulin-mediated glucose transport;Validated transcriptional targets of deltaNp63 isoforms;p38 signaling mediated by MAPKAP kinases;FoxO family signaling;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Class I PI3K signaling events mediated by Akt;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;LKB1 signaling events;insulin (Consensus)

Recessive Scores

• pRec: 0.347

Intolerance Scores

• loftool: 0.373
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• pHI: 0.599
• hipred: Y
• hipred_score: 0.713
• ghis: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.937

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sfn
• Phenotype: neoplasm; 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); reproductive system phenotype; hematopoietic system phenotype; liver/biliary system phenotype; respiratory system phenotype; embryo phenotype; skeleton phenotype; immune system phenotype; vision/eye phenotype; craniofacial phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; digestive/alimentary phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: regulation of cyclin-dependent protein serine/threonine kinase activity;release of cytochrome c from mitochondria;keratinocyte development;negative regulation of protein kinase activity;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;signal transduction;intrinsic apoptotic signaling pathway in response to DNA damage;regulation of epidermal cell division;negative regulation of keratinocyte proliferation;positive regulation of cell growth;keratinization;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of epidermal cell differentiation;positive regulation of protein export from nucleus;membrane organization;establishment of skin barrier;negative regulation of protein serine/threonine kinase activity;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
• Cellular component: extracellular space;nucleus;mitochondrion;cytosol;extracellular exosome
• Molecular function: protein binding;protein kinase C inhibitor activity;protein kinase binding;protein domain specific binding;identical protein binding;cadherin binding;phosphoprotein binding