MLXIP

Summary

MLXIP (MLX interacting protein, HGNC:17055) is a protein-coding gene on chromosome 12q21.31, encoding MLX-interacting protein (Q9HAP2). Binds DNA as a heterodimer with MLX and activates transcription.

This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels.

Source: NCBI Gene 22877 — RefSeq curated summary.

At a glance

• GWAS associations: 31
• Clinical variants (ClinVar): 54 total — 1 pathogenic
• MANE Select transcript: NM_014938

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17055
Approved symbol	MLXIP
Name	MLX interacting protein
Location	12q21.31
Locus type	gene with protein product
Status	Approved
Aliases	MONDOA, KIAA0867, MIR, bHLHe36
Ensembl gene	ENSG00000175727
Ensembl biotype	protein_coding
OMIM	608090
Entrez	22877

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000319080, ENST00000366272, ENST00000535430, ENST00000535876, ENST00000535996, ENST00000538061, ENST00000538698, ENST00000539861, ENST00000541750, ENST00000542417, ENST00000890511, ENST00000890512, ENST00000945225, ENST00000945226, ENST00000945227, ENST00000945228, ENST00000945229, ENST00000945230

RefSeq mRNA: 1 — MANE Select: NM_014938 NM_014938

CCDS: CCDS73540

Canonical transcript exons

ENST00000319080 — 17 exons

Exon	Start	End
ENSE00001278864	122140954	122141083
ENSE00001278872	122138815	122138938
ENSE00001278878	122138424	122138551
ENSE00001278929	122127883	122127968
ENSE00001278951	122138194	122138295
ENSE00001278956	122137469	122137590
ENSE00001278960	122135489	122135666
ENSE00001279017	122133348	122133987
ENSE00001472589	122078756	122079266
ENSE00001796587	122127256	122127362
ENSE00002272499	122141691	122147344
ENSE00003467741	122130844	122130933
ENSE00003500106	122129137	122129226
ENSE00003513193	122132292	122132383
ENSE00003559488	122129941	122130112
ENSE00003629977	122129588	122129629
ENSE00003663423	122135224	122135345

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 98.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.2482 / max 249.6083, expressed in 1797 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128509	15.7013	1788
128508	2.2008	1310
128510	1.0925	717
206940	0.1357	42
128511	0.1179	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	98.55	gold quality
tibialis anterior	UBERON:0001385	97.96	gold quality
gastrocnemius	UBERON:0001388	97.08	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.42	gold quality
muscle of leg	UBERON:0001383	96.25	gold quality
pancreatic ductal cell	CL:0002079	96.02	gold quality
parotid gland	UBERON:0001831	95.86	gold quality
colonic epithelium	UBERON:0000397	95.84	gold quality
transverse colon	UBERON:0001157	95.75	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.60	gold quality
colon	UBERON:0001155	95.31	gold quality
large intestine	UBERON:0000059	95.06	gold quality
quadriceps femoris	UBERON:0001377	94.97	gold quality
mucosa of stomach	UBERON:0001199	94.86	gold quality
body of pancreas	UBERON:0001150	94.77	gold quality
vastus lateralis	UBERON:0001379	94.56	gold quality
skeletal muscle tissue	UBERON:0001134	94.45	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.37	gold quality
rectum	UBERON:0001052	94.30	gold quality
colonic mucosa	UBERON:0000317	94.29	gold quality
intestine	UBERON:0000160	94.09	gold quality
muscle tissue	UBERON:0002385	93.98	gold quality
deltoid	UBERON:0001476	93.97	gold quality
left ovary	UBERON:0002119	93.92	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.90	gold quality
right lobe of thyroid gland	UBERON:0001119	93.83	gold quality
right ovary	UBERON:0002118	93.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.68	gold quality
lower esophagus	UBERON:0013473	93.65	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.47	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-6	yes	61.95
E-HCAD-4	yes	46.85
E-MTAB-9067	yes	17.70
E-GEOD-125970	yes	16.73
E-GEOD-137537	yes	6.27
E-ANND-3	yes	5.99
E-CURD-122	yes	5.68
E-MTAB-4850	no	95.90

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

6 targets.

Target	Regulation
KIT
LDHA	Activation
MIR223
MLH1
PFKFB3
TXNIP	Unknown

miRNA regulators (miRDB)

235 targeting MLXIP, 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-8485	100.00	77.57	4731
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4514	99.99	67.10	1870

Literature-anchored findings (GeneRIF, showing 21)

• Data show that for both MondoA and Mlx, the C-terminal domain CRM-1 has cytoplasmic localization activity that is required by the protein monomers to accumulate in the cytoplasm. (PMID:12446771)
• Endogenous MondoA and Mlx associate with mitochondria in primary skeletal muscle. (PMID:16782875)
• These studies suggest a key role for MondoA:Mlx complexes in the adaptive transcriptional response to changes in extracellular glucose concentration and peripheral glucose uptake. (PMID:18458340)
• Data suggest that glutamine-dependent mitochondrial anapleurosis dictates glucose uptake and aerobic glycolysis by blocking MondoA:Mlx-dependent transcriptional activation of TXNIP. (PMID:19706488)
• Glucose is required at two additional steps to stimulate the transcription activation function of MondoA-Mlx complexes. (PMID:20385767)
• Induction of TXNIP under lactic acidosis is caused by the activation of the glucose-sensing helix-loop-helix transcriptional complex MondoA:Mlx, which is usually triggered upon glucose exposure. (PMID:20844768)
• the MondoA-TXNIP regulatory circuit has a role in the hexose transport curb, although other redundant pathways also contribute (PMID:21908621)
• An important contribution of MondoA to leukemia aggressiveness, which makes MondoA a potential candidate for targeted treatment of acute lymphoblastic leukemia. (PMID:22748921)
• Suppression of Txnip by lipopolysaccharide is accompanied by a decrease of the glucose sensing transcription factor MondoA in the nuclei. (PMID:23520550)
• These results suggest that C771G polymorphism of MLXIPL gene is associated with coronary stenosis and its severity. (PMID:25179879)
• regulatory relationship between mTOR and the MondoA-TXNIP axis that we propose contributes to glucose homeostasis (PMID:25332233)
• Knockdown of MondoA, or its dimerization partner Mlx, blocks Myc-induced reprogramming of multiple metabolic pathways, resulting in apoptosis (PMID:25640402)
• Evaluation of the conservation of ChREBP and MondoA sequences demonstrate that MondoA is better conserved and potentially mediates more ancient function in glucose metabolism. (PMID:26910886)
• MondoA-directed programs have a key role in the coordinated control of myocyte lipid balance and insulin signaling (PMID:27500491)
• Data (including data from studies in knockout mice) suggest that MONDOA shuttles to nucleus of pancreatic beta-cells where it is required for induction of glucose-responsive genes arrestin domain-containing protein 4 (ARRDC4) and thioredoxin interacting protein (TXNIP). (PMID:29282201)
• In response to acidosis, MondoA shows preferential binding to just two targets, TXNIP and its paralog ARRDC4. Because these transcriptional targets are suppressors of glucose uptake, the authors propose that MondoA is critical for restoring metabolic homeostasis in response to high energy charge. (PMID:30717828)
• MondoA drives muscle lipid accumulation and insulin resistance. (PMID:31287806)
• TXNIP induced by MondoA, rather than ChREBP, suppresses cervical cancer cell proliferation, migration and invasion. (PMID:31782782)
• MondoA-Thioredoxin-Interacting Protein Axis Maintains Regulatory T-Cell Identity and Function in Colorectal Cancer Microenvironment. (PMID:33901495)
• MondoA drives malignancy in B-ALL through enhanced adaptation to metabolic stress. (PMID:33908607)
• Genetic polymorphisms of LMX1B and MLXIP are associated with hip osteoarthritis in the Chinese population. (PMID:39263770)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mlxip	ENSDARG00000059474
mus_musculus	Mlxip	ENSMUSG00000038342
rattus_norvegicus	Mlxip	ENSRNOG00000001255
drosophila_melanogaster	Mondo	FBGN0032940
caenorhabditis_elegans		WBGENE00003378

Paralogs (3): MLXIPL (ENSG00000009950), TFAP4 (ENSG00000090447), MLX (ENSG00000108788)

Protein

Protein identifiers

MLX-interacting protein — Q9HAP2 (reviewed: Q9HAP2)

Alternative names: Class E basic helix-loop-helix protein 36, Transcriptional activator MondoA

All UniProt accessions (4): Q9HAP2, F5H0V4, F5H321, H0YGR9

UniProt curated annotations — full annotation on UniProt →

Function. Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5’-CACGTG-3’. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation.

Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer with MLX.

Subcellular location. Cytoplasm. Nucleus. Mitochondrion outer membrane.

Tissue specificity. Widely expressed in adult tissues. Most abundant in skeletal muscle.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9HAP2-1	1	yes
Q9HAP2-2	2
Q9HAP2-3	3
Q9HAP2-4	4
Q9HAP2-5	5

RefSeq proteins (1): NP_055753* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR052207	Max-like/E-box_TFs	Family

Pfam: PF00010

UniProt features (28 total): region of interest 7, modified residue 6, splice variant 6, compositionally biased region 4, sequence variant 2, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAP2-F1	54.60	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 (6): 2, 9, 27, 33, 39, 669

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 194 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, RODRIGUES_NTN1_TARGETS_DN, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, GOCC_MITOCHONDRIAL_ENVELOPE, BENPORATH_ES_CORE_NINE_CORRELATED, GOBP_CARBOHYDRATE_HOMEOSTASIS, HASLINGER_B_CLL_WITH_CHROMOSOME_12_TRISOMY, DANG_BOUND_BY_MYC, MARIADASON_RESPONSE_TO_BUTYRATE_SULINDAC_6, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, OSMAN_BLADDER_CANCER_DN, SENESE_HDAC3_TARGETS_DN, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), protein dimerization activity (GO:0046983), DNA binding (GO:0003677)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), mitochondrial outer membrane (GO:0005741), cytoplasm (GO:0005737), mitochondrion (GO:0005739), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
intracellular membrane-bounded organelle	2
regulation of DNA-templated transcription	1
positive regulation of DNA-templated transcription	1
transcription cis-regulatory region binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
protein binding	1
nucleic acid binding	1
chromosome	1
mitochondrial membrane	1
organelle outer membrane	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MLXIP	MLXIPL	Q9NP71	929
MLXIP	MXD4	Q14582	895
MLXIP	HSD17B1	P14061	715
MLXIP	TXNIP	Q9H3M7	710
MLXIP	XPO1	O14980	702
MLXIP	ARRDC4	Q8NCT1	659
MLXIP	MYCN	P04198	650
MLXIP	MXD1	Q05195	643
MLXIP	MYC	P01106	642
MLXIP	SIN3A	Q96ST3	605
MLXIP	MXI1	P50539	574
MLXIP	MNT	Q99583	568
MLXIP	MXD3	Q9BW11	519
MLXIP	MAX	P25912	465
MLXIP	MLX	Q9UH92	421

IntAct

33 interactions, top by confidence:

A	B	Type	Score
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
MLXIP	RAN	psi-mi:“MI:0915”(physical association)	0.400
MLXIP	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
	MLXIP	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
PNKD	EXOC5	psi-mi:“MI:0914”(association)	0.350
MLX	BACH1	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
MLX	MGA	psi-mi:“MI:0914”(association)	0.350
YWHAB	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAE	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAQ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAZ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAE	PLEKHG3	psi-mi:“MI:2364”(proximity)	0.270
YWHAQ	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
SFN	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	E2F8	psi-mi:“MI:2364”(proximity)	0.270
AGGF1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
EXOSC5	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
TBRG4	VWA8	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
DDX6	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
MLXIP	kbl	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): MLX (Reconstituted Complex), MLXIP (Affinity Capture-MS), MLXIP (Affinity Capture-Western), MTOR (Affinity Capture-Western), MLXIP (Co-fractionation), MLXIP (Affinity Capture-MS), MLXIP (Affinity Capture-MS), MLXIP (Affinity Capture-MS), MLXIP (Proximity Label-MS), MLXIP (Affinity Capture-MS), MLX (Far Western), MLXIP (Proximity Label-MS), MLXIP (Proximity Label-MS), MLXIP (Affinity Capture-MS), MLXIP (Proximity Label-MS)

ESM2 similar proteins: A0A0G2JTY4, A2VD01, A5PMU4, A8E4V2, D2HNW6, E1BEQ5, O54972, O95644, P16236, P59281, P70365, P97305, Q12968, Q13191, Q13469, Q13905, Q15788, Q1LY51, Q2VPU4, Q3LRZ1, Q3TTA7, Q3U182, Q4PJW2, Q4VCS5, Q60591, Q61122, Q66IV1, Q68FF7, Q6DFR2, Q6GQL0, Q6NYU6, Q6ZNC4, Q80TM6, Q80VG1, Q8HWS3, Q8IXK0, Q8IY63, Q8K4S7, Q8N228, Q8VHG2

Diamond homologs: O08609, Q2VPU4, Q8VIP2, Q99MZ3, Q9HAP2, Q9NP71, Q9UH92, P41846

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	197.4×	1e-13
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	174.2×	2e-13
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	174.2×	2e-13
Activation of BH3-only proteins	7	128.7×	2e-12
RHO GTPases activate PKNs	7	82.2×	4e-11
Intrinsic Pathway for Apoptosis	7	75.9×	7e-11
FOXO-mediated transcription	5	62.2×	2e-07
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	45.7×	1e-10

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	65.4×	1e-06
intracellular protein localization	7	26.2×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	31
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527743	GRCh37/hg19 12q24.31(chr12:121882818-122666131)x1	Pathogenic

SpliceAI

4050 predictions. Top by Δscore:

Variant	Effect	Δscore
12:122127254:A:AG	acceptor_gain	1.0000
12:122127254:AGT:A	acceptor_gain	1.0000
12:122127254:AGTG:A	acceptor_gain	1.0000
12:122127254:AGTGG:A	acceptor_gain	1.0000
12:122127255:G:GT	acceptor_gain	1.0000
12:122127255:GT:G	acceptor_gain	1.0000
12:122127255:GTG:G	acceptor_gain	1.0000
12:122127255:GTGG:G	acceptor_gain	1.0000
12:122127255:GTGGG:G	acceptor_gain	1.0000
12:122127358:GCAGT:G	donor_gain	1.0000
12:122127360:AGTGT:A	donor_loss	1.0000
12:122127361:GT:G	donor_gain	1.0000
12:122127361:GTGT:G	donor_loss	1.0000
12:122127362:TG:T	donor_loss	1.0000
12:122127363:G:GG	donor_gain	1.0000
12:122127878:CTCA:C	acceptor_loss	1.0000
12:122127879:TCAG:T	acceptor_loss	1.0000
12:122127880:CA:C	acceptor_loss	1.0000
12:122127881:A:AC	acceptor_loss	1.0000
12:122127881:A:AG	acceptor_gain	1.0000
12:122127882:G:GA	acceptor_gain	1.0000
12:122127882:GA:G	acceptor_gain	1.0000
12:122127882:GAT:G	acceptor_gain	1.0000
12:122127882:GATC:G	acceptor_gain	1.0000
12:122127882:GATCT:G	acceptor_gain	1.0000
12:122127966:G:GT	donor_gain	1.0000
12:122128024:G:GT	donor_gain	1.0000
12:122129133:CTAG:C	acceptor_loss	1.0000
12:122129134:TAG:T	acceptor_loss	1.0000
12:122129135:A:AC	acceptor_loss	1.0000

AlphaMissense

6023 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:122079091:G:C	G80R	1.000
12:122079092:G:A	G80D	1.000
12:122079097:T:C	F82L	1.000
12:122079098:T:C	F82S	1.000
12:122079098:T:G	F82C	1.000
12:122079099:C:A	F82L	1.000
12:122079099:C:G	F82L	1.000
12:122079239:T:C	L129P	1.000
12:122127273:C:A	P144Q	1.000
12:122127278:T:A	W146R	1.000
12:122127278:T:C	W146R	1.000
12:122127279:G:C	W146S	1.000
12:122127280:G:C	W146C	1.000
12:122127280:G:T	W146C	1.000
12:122127321:T:G	I160S	1.000
12:122127327:T:A	L162H	1.000
12:122127327:T:C	L162P	1.000
12:122127330:A:T	N163I	1.000
12:122127331:T:A	N163K	1.000
12:122127331:T:G	N163K	1.000
12:122127334:T:A	N164K	1.000
12:122127334:T:G	N164K	1.000
12:122127339:T:A	I166N	1.000
12:122127341:T:A	W167R	1.000
12:122127341:T:C	W167R	1.000
12:122127342:G:C	W167S	1.000
12:122127343:G:C	W167C	1.000
12:122127343:G:T	W167C	1.000
12:122127345:G:C	R168P	1.000
12:122127350:T:A	W170R	1.000

dbSNP variants (sampled 300 via entrez): RS1000021681 (12:122096923 C>T), RS1000050326 (12:122117712 G>C), RS1000069578 (12:122142990 A>G), RS1000079049 (12:122142819 G>A), RS1000135783 (12:122121659 G>C), RS1000161959 (12:122110637 G>A), RS1000167048 (12:122121443 T>G), RS1000227950 (12:122110358 G>A), RS1000305820 (12:122089756 C>A), RS1000477967 (12:122104487 G>A), RS1000486313 (12:122122756 C>T), RS1000487343 (12:122109268 T>C), RS1000560567 (12:122109068 G>A), RS1000633742 (12:122124279 A>C,G,T), RS1000646204 (12:122115605 A>T)

Disease associations

OMIM: gene MIM:608090 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST002001_9	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	7.000000e-06
GCST006627_90	Diastolic blood pressure	1.000000e-18
GCST007733_26	Serum uric acid levels	3.000000e-07
GCST007733_66	Serum uric acid levels	5.000000e-06
GCST008129_77	Body mass index	3.000000e-10
GCST008972_113	Urate levels	5.000000e-06
GCST008972_175	Urate levels	3.000000e-21
GCST010241_383	Apolipoprotein A1 levels	6.000000e-10
GCST010277_15	Gout	2.000000e-07
GCST012227_560	Hip circumference adjusted for BMI	6.000000e-09
GCST012338_31	Gout	3.000000e-12
GCST90000025_1004	Appendicular lean mass	9.000000e-11
GCST90002392_397	Mean corpuscular volume	2.000000e-14
GCST90002396_540	Mean reticulocyte volume	5.000000e-10
GCST90002403_463	Red blood cell count	2.000000e-12
GCST90011898_11	Alanine aminotransferase levels	5.000000e-25
GCST90020024_238	A body shape index	1.000000e-08
GCST90020025_108	Waist-to-hip ratio adjusted for BMI	6.000000e-16
GCST90020025_109	Waist-to-hip ratio adjusted for BMI	7.000000e-13
GCST90020025_110	Waist-to-hip ratio adjusted for BMI	6.000000e-09
GCST90020025_111	Waist-to-hip ratio adjusted for BMI	5.000000e-14
GCST90020026_26	Hip index	4.000000e-08
GCST90020026_27	Hip index	2.000000e-09
GCST90020027_1188	Waist-hip index	7.000000e-09
GCST90020027_1189	Waist-hip index	1.000000e-13
GCST90020027_1686	Waist-hip index	4.000000e-15
GCST90020027_1687	Waist-hip index	1.000000e-12
GCST90020028_956	Hip circumference adjusted for BMI	2.000000e-09
GCST90020028_957	Hip circumference adjusted for BMI	3.000000e-16
GCST90020028_958	Hip circumference adjusted for BMI	4.000000e-08

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0005260	response to antimicrotubule agent
EFO:0006336	diastolic blood pressure
EFO:0004761	uric acid measurement
EFO:0004340	body mass index
EFO:0004531	urate measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, affects expression, decreases expression	3
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	increases expression, affects expression, increases abundance	2
Benzo(a)pyrene	affects methylation, increases mutagenesis	2
Estradiol	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases methylation, increases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	increases expression	1
bisphenol A	decreases methylation	1
hydroxyhydroquinone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
pyrrolidine dithiocarbamic acid	affects localization, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Vorinostat	increases expression	1
Arsenic	increases abundance, increases expression, decreases expression	1
Atrazine	increases expression	1
Cadmium	decreases expression, increases abundance	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Glucose	affects localization, decreases reaction, affects reaction	1
Indomethacin	affects cotreatment, decreases expression	1

Cellosaurus cell lines

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

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

Cellosaurus	Name	Category	Sex
CVCL_D9KF	Ubigene HEK293 MLXIP KO	Transformed cell line	Female
CVCL_SY56	HAP1 MLXIP (-) 1	Cancer cell line	Male
CVCL_XQ57	HAP1 MLXIP (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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