MAPK8IP2

mitogen-activated protein kinase 8 interacting protein 2

Basic information

Region (hg38): 22:50600792-50613981

Previous symbols: [ "PRKM8IPL" ]

Links

ENSG00000008735 ∙ NCBI:23542 ∙ OMIM:607755 ∙ HGNC:6883 ∙ Uniprot:Q13387 ∙ 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 MAPK8IP2 gene.

• Inborn genetic diseases (19 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPK8IP2 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	1
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	1

Variants in MAPK8IP2

This is a list of pathogenic ClinVar variants found in the MAPK8IP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-50600850-C-T		not specified	Uncertain significance (May 24, 2023)
22-50601856-G-T		not specified	Uncertain significance (Apr 26, 2023)
22-50603233-C-G		not specified	Uncertain significance (Mar 29, 2023)
22-50603245-C-T		not specified	Uncertain significance (Jun 21, 2022)
22-50603254-C-T		not specified	Uncertain significance (Apr 18, 2023)
22-50603260-C-A		not specified	Uncertain significance (Feb 03, 2022)
22-50603325-G-A		not specified	Uncertain significance (Nov 17, 2023)
22-50603358-G-A		not specified	Uncertain significance (Nov 12, 2021)
22-50603421-C-T		not specified	Uncertain significance (Oct 27, 2022)
22-50603464-C-A		not specified	Uncertain significance (Jan 19, 2024)
22-50603645-G-A		not specified	Uncertain significance (Jun 22, 2023)
22-50603653-G-C		not specified	Uncertain significance (Dec 22, 2023)
22-50603663-G-A		not specified	Uncertain significance (Sep 22, 2022)
22-50603668-G-A		not specified	Uncertain significance (Nov 05, 2021)
22-50603705-C-T		not specified	Uncertain significance (Feb 11, 2022)
22-50603882-G-A		not specified	Uncertain significance (Apr 07, 2022)
22-50603906-G-T		not specified	Uncertain significance (Aug 09, 2021)
22-50603940-C-G		not specified	Uncertain significance (Jun 11, 2021)
22-50603978-G-A		not specified	Uncertain significance (Aug 23, 2021)
22-50604026-C-T		not specified	Uncertain significance (Dec 20, 2021)
22-50604457-G-C			Benign (Dec 13, 2017)
22-50604558-C-T		not specified	Uncertain significance (Sep 16, 2021)
22-50606662-C-T		not specified	Uncertain significance (Dec 27, 2022)
22-50606680-C-T		not specified	Uncertain significance (Sep 16, 2021)
22-50610238-C-G		not specified	Uncertain significance (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAPK8IP2	protein_coding	protein_coding	ENST00000329492	13	13296

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000264	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.56	317	474	0.669	0.0000323	5200
Missense in Polyphen		115	210.13	0.54727		2353
Synonymous	0.265	216	221	0.977	0.0000177	1656
Loss of Function	5.05	0	29.7	0.00	0.00000143	346

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: The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. JIP2 inhibits IL1 beta-induced apoptosis in insulin-secreting cells. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). {ECO:0000250}.
• Pathway: MAPK signaling pathway - Homo sapiens (human);EGF-Ncore;MAPK Signaling Pathway (Consensus)

Recessive Scores

• pRec: 0.230

Haploinsufficiency Scores

• pHI: 0.292
• hipred: Y
• hipred_score: 0.746
• ghis: 0.659

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.930

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mapk8ip2
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: behavioral fear response;signal complex assembly;JNK cascade;mating behavior;regulation of signaling receptor activity;positive regulation of stress-activated MAPK cascade;social behavior;regulation of JNK cascade;nonassociative learning;dendrite morphogenesis;regulation of synaptic transmission, glutamatergic;excitatory postsynaptic potential;regulation of NMDA receptor activity;regulation of AMPA receptor activity;negative regulation of apoptotic signaling pathway
• Cellular component: cytoplasm;postsynaptic density;protein-containing complex;neuronal cell body
• Molecular function: amyloid-beta binding;MAP-kinase scaffold activity;structural molecule activity;protein binding;kinesin binding;protein kinase binding;protein-containing complex binding