MAPK8IP2

Summary

MAPK8IP2 (mitogen-activated protein kinase 8 interacting protein 2, HGNC:6883) is a protein-coding gene on chromosome 22q13.33, encoding C-Jun-amino-terminal kinase-interacting protein 2 (Q13387). 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.

This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases.

Source: NCBI Gene 23542 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 52 total — 2 pathogenic
• MANE Select transcript: NM_012324

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6883
Approved symbol	MAPK8IP2
Name	mitogen-activated protein kinase 8 interacting protein 2
Location	22q13.33
Locus type	gene with protein product
Status	Approved
Aliases	IB2, JIP2
Ensembl gene	ENSG00000008735
Ensembl biotype	protein_coding
OMIM	607755
Entrez	23542

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 retained_intron

ENST00000008876, ENST00000329492, ENST00000878405, ENST00000878406, ENST00000878407, ENST00000926247, ENST00000952231, ENST00000952232, ENST00000952233, ENST00000952234, ENST00000952235, ENST00000952236

RefSeq mRNA: 1 — MANE Select: NM_012324 NM_012324

CCDS: CCDS74886

Canonical transcript exons

ENST00000329492 — 12 exons

Exon	Start	End
ENSE00000657802	50605562	50605734
ENSE00000657803	50605825	50605934
ENSE00000878949	50605368	50605443
ENSE00000878952	50606658	50606765
ENSE00001302205	50600793	50600883
ENSE00001306567	50610212	50610310
ENSE00001325315	50606921	50606991
ENSE00001356593	50603841	50605064
ENSE00001382340	50610707	50613978
ENSE00003481341	50603626	50603719
ENSE00003531106	50601789	50601894
ENSE00003684398	50603223	50603498

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 97.81.

FANTOM5 (CAGE): breadth broad, TPM avg 7.8680 / max 227.0155, expressed in 636 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193038	5.4091	517
193033	0.8754	257
193035	0.8283	244
193036	0.3068	146
193037	0.1887	85
193034	0.1766	85
193032	0.0832	38

Top tissues by expression

274 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 10	UBERON:0013541	97.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.19	gold quality
cerebellar hemisphere	UBERON:0002245	96.82	gold quality
cerebellar cortex	UBERON:0002129	96.73	gold quality
right frontal lobe	UBERON:0002810	96.69	gold quality
paraflocculus	UBERON:0005351	96.65	gold quality
amygdala	UBERON:0001876	96.20	gold quality
frontal pole	UBERON:0002795	96.19	gold quality
cingulate cortex	UBERON:0003027	96.11	gold quality
anterior cingulate cortex	UBERON:0009835	96.11	gold quality
cerebellum	UBERON:0002037	95.57	gold quality
prefrontal cortex	UBERON:0000451	94.45	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.33	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.30	gold quality
frontal cortex	UBERON:0001870	93.82	gold quality
neocortex	UBERON:0001950	93.63	gold quality
nucleus accumbens	UBERON:0001882	93.23	gold quality
cortical plate	UBERON:0005343	93.18	gold quality
cerebral cortex	UBERON:0000956	92.58	gold quality
pancreatic ductal cell	CL:0002079	92.35	silver quality
middle frontal gyrus	UBERON:0002702	92.31	gold quality
temporal lobe	UBERON:0001871	92.26	gold quality
Ammon’s horn	UBERON:0001954	92.04	gold quality
telencephalon	UBERON:0001893	91.90	gold quality
hypothalamus	UBERON:0001898	91.79	gold quality
brain	UBERON:0000955	91.58	gold quality
forebrain	UBERON:0001890	91.48	gold quality
central nervous system	UBERON:0001017	91.35	gold quality
putamen	UBERON:0001874	90.92	gold quality
caudate nucleus	UBERON:0001873	90.88	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting MAPK8IP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-1228-3P	99.00	66.53	857
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-4780	98.57	64.75	611
HSA-MIR-4733-3P	98.35	65.20	994
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-6511B-5P	97.98	65.64	823
HSA-MIR-6811-5P	97.98	64.96	848
HSA-MIR-503-5P	97.87	66.83	575
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-6859-3P	97.26	64.69	428

Literature-anchored findings (GeneRIF, showing 3)

• there is a signaling module in which IB2 scaffolds a MLK3/MKK/p38delta kinase cascade. (PMID:12244047)
• Human IB2 mutation has a role as a contributing genetic factor in chromosome 22-associated cognitive disorders. (PMID:21048139)
• Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1. (PMID:39013462)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	mapk8ip2	ENSDARG00000063157
mus_musculus	Mapk8ip2	ENSMUSG00000022619
rattus_norvegicus	Mapk8ip2	ENSRNOG00000032828
drosophila_melanogaster	Dab	FBGN0000414
drosophila_melanogaster	numb	FBGN0002973
drosophila_melanogaster	CG8312	FBGN0037720
drosophila_melanogaster	Aplip1	FBGN0040281
drosophila_melanogaster	CG42673	FBGN0261555
caenorhabditis_elegans		WBGENE00000894
caenorhabditis_elegans		WBGENE00001116
caenorhabditis_elegans		WBGENE00002176
caenorhabditis_elegans		WBGENE00003830
caenorhabditis_elegans		WBGENE00009930

Paralogs (11): NUMBL (ENSG00000105245), MAPK8IP1 (ENSG00000121653), NUMB (ENSG00000133961), GULP1 (ENSG00000144366), DAB2 (ENSG00000153071), LDLRAP1 (ENSG00000157978), DAB1 (ENSG00000173406), FAM43B (ENSG00000183114), FAM43A (ENSG00000185112), NOS1AP (ENSG00000198929), C1orf226 (ENSG00000239887)

Protein

Protein identifiers

C-Jun-amino-terminal kinase-interacting protein 2 — Q13387 (reviewed: Q13387)

Alternative names: Islet-brain-2, JNK MAP kinase scaffold protein 2, Mitogen-activated protein kinase 8-interacting protein 2

All UniProt accessions (1): Q13387

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Forms homo- or heterooligomeric complexes. Binds specific components of the JNK signaling pathway namely JNK1, JNK2, JNK3, MAP2K7, MAP3K10, MAP3K11, MAP3K12 and MAPK13. Also binds the proline-rich domain-containing splice variant of apolipoprotein E receptor 2 (ApoER2). Binds the cytoplasmic tails of LRP1 and LRP2 (Megalin). Binds the TPR motif-containing C-terminal of kinesin light chain, Klc1, pre-assembled MAPK8IP1 scaffolding complexes are then transported as a cargo of kinesin, to the required subcellular location. Interacts with the cytoplasmic domain of APP. Interacts with DCLK2. Interacts with TIAM1 and TIAM2. Interacts with FGF13; enables the interaction with MAPK13 and may regulate the MAPK8IP2 scaffolding activity. Interacts with SH3RF2.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed mainly in the brain and pancreas, including insulin-secreting cells. In the nervous system, more abundantly expressed in the cerebellum, pituitary gland, occipital lobe and the amygdala. Also expressed in fetal brain. Very low levels found in uterus, ovary, prostate, colon, testis, adrenal gland, thyroid gland and salivary gland.

Miscellaneous. Might be artifactual as it is only predicted from a genomic sequence.

Similarity. Belongs to the JIP scaffold family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q13387-1	1	yes
Q13387-2	2
Q13387-3	3
Q13387-4	4

RefSeq proteins (1): NP_036456* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR006020	PTB/PI_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035637	JIP2_SH3	Domain
IPR047178	JIP1_scaffold	Family

Pfam: PF00640, PF14604

UniProt features (32 total): compositionally biased region 7, region of interest 6, splice variant 5, strand 5, modified residue 3, domain 2, chain 1, sequence variant 1, turn 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8RPP	X-RAY DIFFRACTION	1.87

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13387-F1	52.45	0.15

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 254, 302, 305

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 186 (showing top): GOBP_DENDRITE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_COGNITION, MODULE_274, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_BEHAVIOR, GOBP_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, KEGG_MAPK_SIGNALING_PATHWAY, MODULE_418, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEUROGENESIS, GOBP_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE, GOBP_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS, GOBP_CELL_CELL_SIGNALING

GO Biological Process (13): MAPK cascade (GO:0000165), behavioral fear response (GO:0001662), signal complex assembly (GO:0007172), JNK cascade (GO:0007254), mating behavior (GO:0007617), positive regulation of stress-activated MAPK cascade (GO:0032874), social behavior (GO:0035176), regulation of JNK cascade (GO:0046328), nonassociative learning (GO:0046958), dendrite morphogenesis (GO:0048813), regulation of synaptic transmission, glutamatergic (GO:0051966), modulation of excitatory postsynaptic potential (GO:0098815), negative regulation of apoptotic signaling pathway (GO:2001234)

GO Molecular Function (9): amyloid-beta binding (GO:0001540), MAP kinase scaffold activity (GO:0005078), structural molecule activity (GO:0005198), JUN kinase binding (GO:0008432), kinesin binding (GO:0019894), protein kinase binding (GO:0019901), protein kinase activator activity (GO:0030295), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), postsynaptic density (GO:0014069), protein-containing complex (GO:0032991), neuronal cell body (GO:0043025)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of signal transduction	2
MAPK cascade	2
modulation of chemical synaptic transmission	2
binding	2
intracellular signaling cassette	1
behavioral defense response	1
fear response	1
protein-containing complex assembly	1
reproductive behavior	1
regulation of stress-activated MAPK cascade	1
positive regulation of MAPK cascade	1
stress-activated MAPK cascade	1
positive regulation of stress-activated protein kinase signaling cascade	1
behavior	1
biological process involved in intraspecies interaction between organisms	1
JNK cascade	1
regulation of MAPK cascade	1
learning	1
dendrite development	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
synaptic transmission, glutamatergic	1
regulation of nervous system process	1
regulation of membrane potential	1
excitatory postsynaptic potential	1
negative regulation of signal transduction	1
negative regulation of apoptotic process	1
apoptotic signaling pathway	1
regulation of apoptotic signaling pathway	1
peptide binding	1
signaling adaptor activity	1
mitogen-activated protein kinase binding	1
protein complex scaffold activity	1
molecular_function	1
protein kinase binding	1
cytoskeletal protein binding	1
kinase binding	1
protein kinase activity	1
kinase activator activity	1
protein kinase regulator activity	1

Protein interactions and networks

STRING

1590 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAPK8IP2	MAP2K7	O14733	940
MAPK8IP2	MAP3K10	Q02779	904
MAPK8IP2	KLC4	Q9NSK0	886
MAPK8IP2	KLC2	Q9H0B6	883
MAPK8IP2	MAP2K3	P46734	861
MAPK8IP2	KLC3	Q6P597	858
MAPK8IP2	FGF12	P61328	850
MAPK8IP2	MAPK8IP3	Q9UPT6	830
MAPK8IP2	MAPK8IP1	Q9UQF2	814
MAPK8IP2	MAP3K11	Q16584	807
MAPK8IP2	KLC1	Q07866	795
MAPK8IP2	MAP3K13	O43283	783
MAPK8IP2	MIOX	Q9UGB7	769
MAPK8IP2	SPAG9	O60271	762
MAPK8IP2	MAPK13	O15264	749

IntAct

108 interactions, top by confidence:

A	B	Type	Score
MAPK8IP1	MAPK8	psi-mi:“MI:0914”(association)	0.770
EGFR	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.690
MAPK8IP2	EGFR	psi-mi:“MI:0407”(direct interaction)	0.690
EGFR	MAPK8IP2	psi-mi:“MI:0407”(direct interaction)	0.690
MAPK8IP3	RCCD1	psi-mi:“MI:0914”(association)	0.640
ANGPT1	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.570
MAPK8IP2	UBD	psi-mi:“MI:0915”(physical association)	0.570
UBD	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.570
MAPK8IP2	FGF13	psi-mi:“MI:0915”(physical association)	0.550
MAPK8IP3	DCTN6	psi-mi:“MI:0914”(association)	0.530
MAPK8IP2		psi-mi:“MI:0915”(physical association)	0.510
	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.510
MAPK8IP2	C22orf39	psi-mi:“MI:0915”(physical association)	0.490
IGIP	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.490
MAPK8IP2	C8orf33	psi-mi:“MI:0915”(physical association)	0.490
TMEM128	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.490
MAPK8IP2	TMEM128	psi-mi:“MI:0915”(physical association)	0.490
C22orf39	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.490
C8orf33	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.490
MAPK8IP2	IGIP	psi-mi:“MI:0915”(physical association)	0.490
MAPK8IP2	ERBB2	psi-mi:“MI:0407”(direct interaction)	0.440
MAPK8IP2	RABGAP1L	psi-mi:“MI:0915”(physical association)	0.400
LRRK2	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (151): MAPK8IP2 (Two-hybrid), MAPK8IP2 (Affinity Capture-MS), C22orf39 (Two-hybrid), C8orf33 (Two-hybrid), IGIP (Two-hybrid), TMEM128 (Two-hybrid), ANGPT1 (Two-hybrid), UBD (Two-hybrid), C1QTNF3 (Two-hybrid), CTNNBL1 (Two-hybrid), DUSP18 (Two-hybrid), ING4 (Two-hybrid), LSM8 (Two-hybrid), MSRB3 (Two-hybrid), SCLT1 (Two-hybrid)

ESM2 similar proteins: A0A8I5KY20, A2A9T0, A2IDD5, B0BNK9, B8ZZ34, C9JI98, C9JLR9, F5GYI3, O18734, P0CG25, P84157, Q0IIA6, Q0PHV7, Q0X0E2, Q13387, Q1RMK9, Q2M3D2, Q2TAM9, Q3ZCQ3, Q4VA45, Q673H1, Q69YZ2, Q6NS60, Q6P6N5, Q6PJ61, Q7Z6J2, Q80ZJ8, Q810I0, Q86SX3, Q86UD0, Q86XT2, Q8BNN1, Q8IUW3, Q8N4Y2, Q8N6N2, Q8QZV0, Q8R4T5, Q8TF61, Q8VCR9, Q8WXF8

Diamond homologs: A5D8S5, G3V9M2, G5EC32, Q13387, Q9ERE9, Q9R237, Q9UQF2, Q9W0K0, Q9WVI9, A4FU49, A6QLK6, A7A261, B1V8A0, E2RP94, E7F1U2, F1LRS8, M0R4F8, O35179, O35180, O35964, O43125, O43586, O55043, O75886, O76041, O77506, O88811, O93436, P10569, P20929, P29355, P32793, P34416, P43603, P49710, P52735, P62484, P70297, P98171, Q06449

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
MAPK8IP2	up-regulates	MAP2K7	binding
MAPK8IP2	up-regulates	MAPK8	binding
MAPK8IP2	up-regulates	MAPK8IP1	binding
MAPK8IP2	up-regulates	MAPK9	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

52 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	39
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3062444	GRCh37/hg19 22q13.33(chr22:51044719-51183834)x1	Pathogenic
831358	NC_000022.10:g.(?50964189)(51066217_?)del	Pathogenic

SpliceAI

2314 predictions. Top by Δscore:

Variant	Effect	Δscore
22:50601786:CA:C	acceptor_loss	1.0000
22:50601787:A:AG	acceptor_gain	1.0000
22:50601787:A:C	acceptor_loss	1.0000
22:50601787:AG:A	acceptor_gain	1.0000
22:50601788:G:GG	acceptor_gain	1.0000
22:50601788:GG:G	acceptor_gain	1.0000
22:50601788:GGCCT:G	acceptor_gain	1.0000
22:50601870:C:G	donor_gain	1.0000
22:50601891:GAAG:G	donor_gain	1.0000
22:50601892:AAG:A	donor_loss	1.0000
22:50601895:G:A	donor_loss	1.0000
22:50601931:G:GT	donor_gain	1.0000
22:50601932:G:T	donor_gain	1.0000
22:50603331:G:GT	donor_gain	1.0000
22:50603337:G:GT	donor_gain	1.0000
22:50603343:G:GT	donor_gain	1.0000
22:50603346:G:GT	donor_gain	1.0000
22:50603349:G:GT	donor_gain	1.0000
22:50605065:G:GG	donor_gain	1.0000
22:50605342:C:A	acceptor_gain	1.0000
22:50605348:T:TA	acceptor_gain	1.0000
22:50605353:T:A	acceptor_gain	1.0000
22:50605356:C:CA	acceptor_gain	1.0000
22:50605357:G:A	acceptor_gain	1.0000
22:50605556:C:CA	acceptor_gain	1.0000
22:50605725:G:GT	donor_gain	1.0000
22:50605730:GCTGG:G	donor_gain	1.0000
22:50605733:GG:G	donor_gain	1.0000
22:50605734:GG:G	donor_gain	1.0000
22:50605734:GGTG:G	donor_loss	1.0000

AlphaMissense

5360 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:50604837:T:C	L513P	1.000
22:50605563:T:C	F615L	1.000
22:50605564:T:C	F615S	1.000
22:50605565:C:A	F615L	1.000
22:50605565:C:G	F615L	1.000
22:50605594:T:C	L625P	1.000
22:50605869:T:C	F687L	1.000
22:50605870:T:C	F687S	1.000
22:50605870:T:G	F687C	1.000
22:50605871:C:A	F687L	1.000
22:50605871:C:G	F687L	1.000
22:50605873:T:C	L688P	1.000
22:50605875:G:C	G689R	1.000
22:50605876:G:A	G689D	1.000
22:50605876:G:T	G689V	1.000
22:50605878:T:C	S690P	1.000
22:50605879:C:T	S690F	1.000
22:50605915:T:C	L702P	1.000
22:50605924:C:A	A705D	1.000
22:50605927:T:A	M706K	1.000
22:50606662:C:A	A710D	1.000
22:50606713:T:A	L727H	1.000
22:50606713:T:C	L727P	1.000
22:50606942:T:C	F752L	1.000
22:50606943:T:C	F752S	1.000
22:50606944:C:A	F752L	1.000
22:50606944:C:G	F752L	1.000
22:50606963:T:C	F759L	1.000
22:50606964:T:C	F759S	1.000
22:50606964:T:G	F759C	1.000

dbSNP variants (sampled 300 via entrez): RS1000076481 (22:50607366 G>A,T), RS1000119676 (22:50611296 C>T), RS1000297637 (22:50612141 C>T), RS1000444580 (22:50606566 G>A), RS1000527682 (22:50610404 G>A), RS1000534657 (22:50600297 A>C), RS1001210447 (22:50606280 C>T), RS1001480508 (22:50605921 C>T), RS1001531716 (22:50605337 T>C), RS1001558660 (22:50613527 C>G), RS1001632949 (22:50608774 G>A), RS1001685128 (22:50608277 C>G,T), RS1001900836 (22:50612867 G>C,T), RS1001904700 (22:50613914 C>T), RS1001963423 (22:50609717 G>A)

Disease associations

OMIM: gene MIM:607755 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST008162_110	Hip circumference	7.000000e-06
GCST011739_14	Cutaneous leishmaniasis	3.000000e-06
GCST90007008_2	Gut microbiota relative abundance (Prevotella)	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Chelating Agents	affects binding, decreases expression	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Copper	affects binding, decreases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Valproic Acid	increases expression, increases methylation	2
Cadmium Chloride	increases expression, increases abundance	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
CGP 52608	increases reaction, affects binding	1
abrine	increases expression	1
PF 3758309	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	increases abundance, increases expression	1
Calcitriol	increases expression	1
Hydrogen Peroxide	affects expression	1
Quercetin	increases expression, affects cotreatment	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Triclosan	increases expression	1

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D8Q9	Ubigene HCT 116 MAPK8IP2 KO	Cancer cell line	Male
CVCL_D9JS	Ubigene HEK293 MAPK8IP2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.