JKAMP

protein-coding

JNK1/MAPK8 associated membrane protein

Gene summary

Enables ubiquitin protein ligase binding activity. Involved in ERAD pathway. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf100

MANE transcript

NM_016475.5

Inheritance

ClinVar variants

P:4U:34B:1

Top phenotype

Neurodevelopmental disorder with seizures and impaired intellectual and language development

gnomAD constraint

pLI —, LoF o/e 0.3

Max pathogenic AF

—

Genomic locus

chr14:59,484,443-59,505,410

External References & Databases

Ensembl (ENSG00000050130)

Transcript & Mutation Effects

hg38 • Region Span ~21.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

complex neurodevelopmental disorderMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0100038

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to JKAMP variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 24

Neurodevelopmental disorder with seizures and impaired intellectual and language developmentTotal: 9

JKAMP neurodevelopmental disorderTotal: 8

JKAMP-associated neurodevelopmental diseaseTotal: 2

JKAMP-related neurodevelopmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016475.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			26 clinvar	1 clinvar		27
nonsense		2 clinvar	1 clinvar			3
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)		2 clinvar	4 clinvar			6
Total	0	4	34	1	0	39

Highest pathogenic variant AF is 0.0000013897555

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016475.5	RefSeq	NP_057559.2	7	MANE Select
ENST00000616435.5	Ensembl	ENSP00000479775.2	7	MANE Select
NM_001098625.3	RefSeq	NP_001092095.1	7	Standard
NM_001284201.2	RefSeq	NP_001271130.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to unfolded protein
ubiquitin-dependent ERAD pathway

Molecular Function

ubiquitin protein ligase binding

Cellular Component

endoplasmic reticulum membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261247
Coding exons: 7
Length: 20968
Individuals with no LoFs: 124644
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 124652
p: 0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.55	108	164	0.660	0.00000822	1986
Missense (PolyPhen)		25	60.352	0.41424		749
Synonymous	0.536	55	60.3	0.912	0.00000338	604
Loss of Function	2.69	5	16.9	0.295	9.18e-7	211

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000063	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000045	0.000044	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be a regulator of the duration of MAPK8 activity in response to various stress stimuli. Facilitates degradation of misfolded endoplasmic reticulum (ER) luminal proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0877

Intolerance Scores

LoFtool: 0.487
RVIS EVS: -0.21
RVIS percentile EVS: 38.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.731

Gene Damage Prediction

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