JUND

JunD proto-oncogene, AP-1 transcription factor subunit, the group of Basic leucine zipper proteins|Jun transcription factor family

Basic information

Region (hg38): 19:18279694-18281622

Links

ENSG00000130522 ∙ NCBI:3727 ∙ OMIM:165162 ∙ HGNC:6206 ∙ Uniprot:P17535 ∙ 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 JUND gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JUND 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				2	1	3
missense			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	2	1

Variants in JUND

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

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

Position	Type	Phenotype	Significance	ClinVar
19-18280458-G-C		not specified	Uncertain significance (Nov 17, 2022)
19-18280508-T-C		not specified	Uncertain significance (Jan 23, 2024)
19-18280547-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-18280625-T-C		not specified	Uncertain significance (Jun 13, 2023)
19-18280660-C-A			Benign (Jun 06, 2018)
19-18280678-G-C		not specified	Uncertain significance (Oct 03, 2022)
19-18280803-G-C		not specified	Uncertain significance (Oct 02, 2023)
19-18280838-G-A		not specified	Uncertain significance (May 15, 2024)
19-18280839-C-G		not specified	Uncertain significance (May 15, 2024)
19-18280871-C-T		not specified	Uncertain significance (May 15, 2023)
19-18280874-G-A		not specified	Uncertain significance (Oct 12, 2022)
19-18280896-G-A			Likely benign (Mar 29, 2018)
19-18280953-G-A		not specified	Uncertain significance (Jan 17, 2023)
19-18280970-G-A		not specified	Uncertain significance (Mar 08, 2024)
19-18280971-T-C		not specified	Uncertain significance (Jan 29, 2024)
19-18280997-G-C		not specified	Uncertain significance (Dec 07, 2021)
19-18281004-C-T		not specified	Uncertain significance (Oct 10, 2023)
19-18281009-G-C		not specified	Uncertain significance (Jun 09, 2022)
19-18281042-T-G		not specified	Uncertain significance (Jul 12, 2023)
19-18281124-A-T		not specified	Likely benign (Jun 17, 2024)
19-18281218-G-A			Likely benign (Aug 01, 2022)
19-18281235-G-A		not specified	Uncertain significance (Jul 19, 2022)
19-18281270-G-T		not specified	Uncertain significance (Jun 22, 2023)
19-18281273-G-A		not specified	Uncertain significance (May 02, 2024)
19-18281279-G-A		not specified	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
JUND	protein_coding	protein_coding	ENST00000252818	1	1870

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.701	0.285	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.40	80	124	0.646	0.00000574	2142
Missense in Polyphen		12	39.052	0.30729		519
Synonymous	-2.41	87	62.7	1.39	0.00000300	783
Loss of Function	1.84	0	3.96	0.00	1.68e-7	68

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: Transcription factor binding AP-1 sites. {ECO:0000269|PubMed:9989505}.
• Pathway: MAPK signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Apoptosis-related network due to altered Notch3 in ovarian cancer;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;TGF-beta Signaling Pathway;MAPK Signaling Pathway;EGF-EGFR Signaling Pathway;Hypertrophy Model;Signal Transduction;fosb gene expression and drug abuse;Oncostatin_M;ATF-2 transcription factor network;TGF_beta_Receptor;EGFR1;Signaling by Nuclear Receptors;Estrogen-dependent gene expression;ESR-mediated signaling;AP-1 transcription factor network;PDGFR-beta signaling pathway;Validated transcriptional targets of AP1 family members Fra1 and Fra2 (Consensus)

Haploinsufficiency Scores

• pHI: 0.524
• hipred: Y
• hipred_score: 0.600
• ghis: 0.543

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• 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: Jund
• 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); hematopoietic system phenotype; reproductive system 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); embryo phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;osteoblast development;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;aging;circadian rhythm;response to radiation;response to light stimulus;response to mechanical stimulus;response to organic substance;response to lipopolysaccharide;cellular response to hormone stimulus;response to cytokine;response to drug;response to peptide hormone;positive regulation of cell differentiation;positive regulation of osteoblast differentiation;positive regulation of transcription by RNA polymerase II;response to cAMP;regulation of cell cycle;cellular response to calcium ion
• Cellular component: chromatin;nuclear chromatin;nucleus;nucleoplasm;transcription factor complex;protein-DNA complex;transcription factor AP-1 complex
• Molecular function: 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;transcription coactivator activity;protein binding;transcription factor binding;nuclear receptor binding;enzyme binding;transcription regulatory region DNA binding