MAP4K5

mitogen-activated protein kinase kinase kinase kinase 5, the group of Mitogen-activated protein kinase kinase kinase kinases

Basic information

Region (hg38): 14:50418501-50561126

Links

ENSG00000012983 ∙ NCBI:11183 ∙ OMIM:604923 ∙ HGNC:6867 ∙ Uniprot:Q9Y4K4 ∙ 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 MAP4K5 gene.

• not_specified (88 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP4K5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006575.6. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			86	3		89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP4K5	protein_coding	protein_coding	ENST00000013125	31	142626

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00531	124703	0	14	124717	0.0000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.06	268	381	0.703	0.0000179	5464
Missense in Polyphen		66	128.06	0.51539		1926
Synonymous	1.02	117	132	0.887	0.00000660	1501
Loss of Function	5.57	8	50.8	0.157	0.00000255	716

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000317	0.0000317
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000560	0.0000556
Finnish	0.0000929	0.0000928
European (Non-Finnish)	0.0000357	0.0000354
Middle Eastern	0.0000560	0.0000556
South Asian	0.000179	0.000163
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. {ECO:0000269|PubMed:9038372}.
• Pathway: EGF-Core;Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;mapkinase signaling pathway;EGFR1;TNF receptor signaling pathway (Consensus)

Recessive Scores

• pRec: 0.150

Haploinsufficiency Scores

• pHI: 0.395
• hipred: N
• hipred_score: 0.492
• ghis: 0.540

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Map4k5
• Phenotype: immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; homeostasis/metabolism phenotype; cellular 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)

Gene ontology

• Biological process: activation of MAPKKK activity;protein phosphorylation;activation of JUN kinase activity;signal transduction by protein phosphorylation;stress-activated protein kinase signaling cascade;activation of protein kinase activity;intracellular signal transduction
• Cellular component: cytoplasm
• Molecular function: protein kinase activity;protein serine/threonine kinase activity;protein binding;ATP binding;MAP kinase kinase kinase kinase activity