JKAMP

Chr 14q23.1

JNK1/MAPK8 associated membrane protein

Aliases:: HSPC213, JAMP, HSPC327, CDA06
MANE:: ENST00000616435.5

OMIM: 611176 ↗NCBI: 51528 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

JKAMP · Q9P055

v62025-08-01

Predicted Aligned Error matrix for JKAMP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.4/ 100

Confident

311 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)33%
Low(50–70)10%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinal degeneration
0.26
neurodevelopmental disorder
0.25
myasthenia gravis
0.24
neurodevelopmental disorder with hypotonia, microcephaly, and seizures
0.18
complex neurodevelopmental disorder
0.18
atherosclerosis
0.11
aneurysm
0.07
pelvic inflammatory disease
0.07
poisoning
0.07
response to xenobiotic stimulus
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

JNK1/MAPK8-associated membrane protein

Regulates the duration of MAPK8 activity in response to various stress stimuli (By similarity). Facilitates degradation of misfolded endoplasmic reticulum (ER) proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (PubMed:18784250)