MTUS2

gene
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Also known as TIP150CAZIPICIS

Summary

MTUS2 (microtubule associated scaffold protein 2, HGNC:20595) is a protein-coding gene on chromosome 13q12.3, encoding Microtubule-associated tumor suppressor candidate 2 (Q5JR59). Binds microtubules.

Enables microtubule binding activity and protein homodimerization activity. Located in centrosome; cytoplasmic microtubule; and intercellular bridge. Part of nucleus.

Source: NCBI Gene 23281 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 88 total — 1 likely-pathogenic
  • MANE Select transcript: NM_001033602

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20595
Approved symbolMTUS2
Namemicrotubule associated scaffold protein 2
Location13q12.3
Locus typegene with protein product
StatusApproved
AliasesTIP150, CAZIP, ICIS
Ensembl geneENSG00000132938
Ensembl biotypeprotein_coding
OMIM619358
Entrez23281

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000255289, ENST00000380808, ENST00000400542, ENST00000467990, ENST00000542829, ENST00000612955, ENST00000948542

RefSeq mRNA: 6 — MANE Select: NM_001033602 NM_001033602, NM_001366650, NM_001366651, NM_001384605, NM_001384606, NM_015233

CCDS: CCDS41874, CCDS45022

Canonical transcript exons

ENST00000612955 — 16 exons

ExonStartEnd
ENSE000009066422903388529034125
ENSE000011322212949264629492719
ENSE000011322242948790029488005
ENSE000011322342943998329440049
ENSE000011322412935926229359473
ENSE000011322502932461329324711
ENSE000011322572928170429281865
ENSE000034816212948015029480364
ENSE000035041642950109729501194
ENSE000035098902949723829497336
ENSE000035449582910077329100970
ENSE000035546532949841829498537
ENSE000037205902902445729026903
ENSE000037307002882033928820611
ENSE000037392882883977828839850
ENSE000037398602950299329505947

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 94.68.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6785 / max 184.7703, expressed in 313 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter IDTPM avgSamples expressed
1345870.6598159
1345940.2826113
1345880.219570
1345860.151571
1345950.148949
1345980.083527
2069900.037810
1345900.036220
1345960.01909
1345970.018810

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
heart right ventricleUBERON:000208094.68gold quality
left ventricle myocardiumUBERON:000656694.03gold quality
myocardiumUBERON:000234992.49gold quality
cardiac ventricleUBERON:000208291.65gold quality
apex of heartUBERON:000209891.58gold quality
heart left ventricleUBERON:000208491.56gold quality
cardiac muscle of right atriumUBERON:000337990.60gold quality
cardiac atriumUBERON:000208189.64gold quality
right atrium auricular regionUBERON:000663189.32gold quality
heartUBERON:000094889.00gold quality
Brodmann (1909) area 23UBERON:001355485.45gold quality
ascending aortaUBERON:000149685.16gold quality
thoracic aortaUBERON:000151585.04gold quality
primary visual cortexUBERON:000243684.25gold quality
descending thoracic aortaUBERON:000234584.08gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099183.00gold quality
body of pancreasUBERON:000115082.79gold quality
cortical plateUBERON:000534382.13gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047381.50gold quality
middle temporal gyrusUBERON:000277180.67gold quality
pancreasUBERON:000126480.32gold quality
occipital lobeUBERON:000202179.85gold quality
buccal mucosa cellCL:000233679.63silver quality
islet of LangerhansUBERON:000000678.64gold quality
lateral nuclear group of thalamusUBERON:000273678.17gold quality
secondary oocyteCL:000065577.08gold quality
right hemisphere of cerebellumUBERON:001489076.35gold quality
right frontal lobeUBERON:000281076.30gold quality
pituitary glandUBERON:000000776.24gold quality
cerebellar cortexUBERON:000212976.05gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-HCAD-35yes1413.18
E-MTAB-5061yes15.22
E-GEOD-83139yes8.91
E-ANND-3yes5.70
E-ENAD-27no129.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting MTUS2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3646100.0073.565283
HSA-MIR-3163100.0077.238605
HSA-MIR-340-5P100.0072.504437
HSA-MIR-8485100.0077.574731
HSA-MIR-150-5P99.9966.691976
HSA-MIR-366299.9973.825684
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-568899.9673.234504
HSA-MIR-495-3P99.9672.814197
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-568099.9169.833421
HSA-MIR-589-3P99.9169.622088
HSA-MIR-6499-3P99.9066.381212
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-1343-3P99.8966.781815
HSA-MIR-137-3P99.8774.742401
HSA-MIR-797899.8666.90856
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-383-3P99.8565.841359
HSA-MIR-548AR-3P99.8571.263889
HSA-MIR-444799.8567.812900
HSA-MIR-5010-3P99.8370.602357
HSA-MIR-548AZ-3P99.8270.563549
HSA-MIR-548BC99.8270.613524
HSA-MIR-548E-3P99.8270.593514
HSA-MIR-548F-3P99.8270.593540
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-34B-5P99.7867.561175

Literature-anchored findings (GeneRIF, showing 6)

  • TIP150 facilitates the EB1-dependent loading of MCAK onto MT plus ends and orchestrates the dynamics at the plus end of MTs. (PMID:19543227)
  • These results suggest a role for CAZIP in development and function of the heart and nervous system in vertebrates. (PMID:19806667)
  • TIP150-EB1 interaction governs kinetochore microtubule plus-end plasticity and establish that the temporal control of the TIP150-EB1 interaction by PCAF acetylation ensures chromosome stability in mitosis. (PMID:23595990)
  • A dynamic interaction of MCAK-TIP150 orchestrated by Aurora A-mediated phosphorylation governs entosis via regulating microtubule plus-end dynamics and cell rigidity. (PMID:24847103)
  • a dynamic TIP150-cortactin interaction orchestrates directional cell migration via coupling dynamic microtubule plus ends to the cortical cytoskeleton. (PMID:27451391)
  • Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer’s disease. (PMID:38380866)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriomtus2aENSDARG00000062347
danio_rerioENSDARG00000074984
mus_musculusMtus2ENSMUSG00000029651
rattus_norvegicusMtus2ENSRNOG00000032410

Paralogs (2): MTUS1 (ENSG00000129422), CCDC69 (ENSG00000198624)

Protein

Protein identifiers

Microtubule-associated tumor suppressor candidate 2Q5JR59 (reviewed: Q5JR59)

Alternative names: Cardiac zipper protein, Microtubule plus-end tracking protein TIP150

All UniProt accessions (1): Q5JR59

UniProt curated annotations — full annotation on UniProt →

Function. Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip.

Subunit / interactions. Homodimer. Interacts with KIF2C and MAPRE1; the interaction is direct and probably targets MTUS2 and KIF2C to microtubules.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Detected in embryonic stem cells differentiating to cardiomyocytes.

Similarity. In the C-terminal section; belongs to the MTUS1 family.

Isoforms (3)

UniProt IDNamesCanonical?
Q5JR59-21yes
Q5JR59-32
Q5JR59-43

RefSeq proteins (6): NP_001028774, NP_001353579, NP_001353580, NP_001371534, NP_001371535, NP_056048 (=MANE)

Domains & families (InterPro)

IDNameType
IPR051293MTUS1/CCDC69Family

UniProt features (24 total): region of interest 10, compositionally biased region 6, splice variant 3, sequence variant 2, chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5JR59-F152.200.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 90 (showing top): YAGI_AML_WITH_INV_16_TRANSLOCATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GOCC_INTERCELLULAR_BRIDGE, GOCC_CYTOPLASMIC_MICROTUBULE, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, GOMF_CYTOSKELETAL_PROTEIN_BINDING, MEISSNER_NPC_HCP_WITH_H3K4ME2, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, PTEN_DN.V1_DN, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP

GO Biological Process (0):

GO Molecular Function (3): microtubule binding (GO:0008017), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), microtubule (GO:0005874), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), cytoplasm (GO:0005737), centrosome (GO:0005813), cytoskeleton (GO:0005856), cytoplasmic microtubule (GO:0005881)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
tubulin binding1
identical protein binding1
protein dimerization activity1
binding1
intracellular membrane-bounded organelle1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
cytoskeleton1
intracellular anatomical structure1
centriole1
microtubule organizing center1
intracellular membraneless organelle1
cytoplasm1
microtubule1

Protein interactions and networks

STRING

2121 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MTUS2CTLA4P16410926
MTUS2CD274Q9NZQ7909
MTUS2PDCD1Q15116884
MTUS2HAVCR2Q8TDQ0817
MTUS2CD4P01730803
MTUS2TIGITQ495A1784
MTUS2CD8AP01732782
MTUS2LAG3P18627728
MTUS2PDCD1LG2Q9BQ51720
MTUS2EGFRP00533713
MTUS2ALKQ9UM73699
MTUS2BRAFP15056626
MTUS2IFNGP01579624
MTUS2IDO1P14902621
MTUS2KIF2CQ99661596

IntAct

572 interactions, top by confidence:

ABTypeScore
PSMA1MTUS2psi-mi:“MI:0915”(physical association)0.760
MTUS2PSMA1psi-mi:“MI:0915”(physical association)0.760
MTUS2PLSCR4psi-mi:“MI:0915”(physical association)0.740
MTUS2ZNF490psi-mi:“MI:0915”(physical association)0.740
ZNF785MTUS2psi-mi:“MI:0915”(physical association)0.670
FCHSD2MTUS2psi-mi:“MI:0915”(physical association)0.670
MTUS2SLC25A6psi-mi:“MI:0915”(physical association)0.670
ZNF136MTUS2psi-mi:“MI:0915”(physical association)0.670
MTUS2ODF1psi-mi:“MI:0915”(physical association)0.670
MTUS2TSGA10IPpsi-mi:“MI:0915”(physical association)0.670
ZC2HC1CMTUS2psi-mi:“MI:0915”(physical association)0.670
MTUS2CCDC60psi-mi:“MI:0915”(physical association)0.670
MTUS2CCDC116psi-mi:“MI:0915”(physical association)0.670
MTUS2ZNF439psi-mi:“MI:0915”(physical association)0.670
MTUS2C1orf216psi-mi:“MI:0915”(physical association)0.670
MTUS2LNX1psi-mi:“MI:0915”(physical association)0.670
RHPN1MTUS2psi-mi:“MI:0915”(physical association)0.670
MTUS2PKP2psi-mi:“MI:0915”(physical association)0.670
MTUS2ZNF581psi-mi:“MI:0915”(physical association)0.670
MTUS2NDOR1psi-mi:“MI:0915”(physical association)0.670
DCTN4MTUS2psi-mi:“MI:0915”(physical association)0.670
SPG7MTUS2psi-mi:“MI:0915”(physical association)0.670
MTUS2FCHSD2psi-mi:“MI:0915”(physical association)0.670
MTUS2TSHZ3psi-mi:“MI:0915”(physical association)0.560
TRIM42MTUS2psi-mi:“MI:0915”(physical association)0.560
MTUS2ZNF572psi-mi:“MI:0915”(physical association)0.560
DCDC2BMTUS2psi-mi:“MI:0915”(physical association)0.560
GTPBP10MTUS2psi-mi:“MI:0915”(physical association)0.560

BioGRID (513): MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid)

ESM2 similar proteins: A2A995, A2ALU4, A4IGN8, A6NMK8, D3ZUI5, E1C2Q8, F1QGH6, O54931, O75128, O75363, O75410, O95425, P24275, P24588, P51827, Q1LWM5, Q1RMS0, Q1W617, Q3UHI0, Q3UMF0, Q3ZB98, Q499V8, Q53SF7, Q5JR59, Q5NBX1, Q5VWT5, Q5ZJ26, Q62394, Q66KC9, Q673G8, Q69ZL1, Q6GQV1, Q6INC4, Q6QZN6, Q6WKZ4, Q6Y685, Q7TP36, Q7TS75, Q80YN3, Q8BI29

Diamond homologs: A0JMQ7, A6NI79, A6QNP9, A7MC22, Q08AV7, Q0IHN7, Q17QT2, Q3TCJ8, Q3UHD3, Q5HZI1, Q5JR59, Q5R9I1, Q6DCD4, Q6IMY1, Q7SZL5, Q9ULD2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 149 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:

PathwayPartnersFoldFDR
Regulation of TP53 Activity through Phosphorylation79.5×2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance67
Likely benign4
Benign4

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
979362GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3Likely pathogenic

SpliceAI

1775 predictions. Top by Δscore:

VariantEffectΔscore
13:29492640:TTCCA:Tacceptor_loss1.0000
13:29492641:TCCAG:Tacceptor_loss1.0000
13:29492642:CCA:Cacceptor_loss1.0000
13:29492643:CAGAA:Cacceptor_loss1.0000
13:29492644:A:AGacceptor_gain1.0000
13:29492644:A:Tacceptor_loss1.0000
13:29492645:G:GCacceptor_loss1.0000
13:29492645:G:GGacceptor_gain1.0000
13:29492645:GA:Gacceptor_gain1.0000
13:29492645:GAAT:Gacceptor_gain1.0000
13:29492645:GAATT:Gacceptor_gain1.0000
13:29492716:GCAG:Gdonor_gain1.0000
13:29492718:AGGT:Adonor_loss1.0000
13:29492719:GGT:Gdonor_loss1.0000
13:29492720:G:Cdonor_loss1.0000
13:29492721:T:Adonor_loss1.0000
13:29497312:G:GTdonor_gain1.0000
13:29497334:G:GTdonor_gain1.0000
13:29497371:G:GTdonor_gain1.0000
13:29497449:G:GTdonor_gain1.0000
13:29497526:GCT:Gdonor_gain1.0000
13:29497543:C:Gdonor_gain1.0000
13:29501092:T:TAacceptor_gain1.0000
13:29501095:A:AGacceptor_gain1.0000
13:29501095:AG:Aacceptor_gain1.0000
13:29501096:G:Aacceptor_loss1.0000
13:29501096:G:GTacceptor_gain1.0000
13:29501096:GG:Gacceptor_gain1.0000
13:29501096:GGC:Gacceptor_gain1.0000
13:29501096:GGCA:Gacceptor_gain1.0000

AlphaMissense

8960 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
13:29026629:T:CI644T0.999
13:29026629:T:GI644S0.999
13:29026632:T:AI645N0.999
13:29497254:T:CL1199P0.999
13:29501158:T:CL1287P0.999
13:29502998:T:CL1301P0.999
13:29503019:T:CL1308P0.999
13:29503082:T:CL1329P0.999
13:29026632:T:CI645T0.998
13:29026632:T:GI645S0.998
13:29492703:T:CL1188P0.998
13:29492706:G:CR1189P0.998
13:29492709:T:CL1190P0.998
13:29497242:A:CQ1195P0.998
13:29497286:G:CA1210P0.998
13:29497304:G:CA1216P0.998
13:29498464:T:CL1242P0.998
13:29501137:T:CL1280P0.998
13:29503012:G:CA1306P0.998
13:29503061:T:CL1322S0.998
13:29503067:G:CR1324P0.998
13:29026621:G:CR641S0.997
13:29026621:G:TR641S0.997
13:29026644:G:CR649T0.997
13:29026644:G:TR649M0.997
13:29026645:G:CR649S0.997
13:29026645:G:TR649S0.997
13:29492718:A:CQ1193P0.997
13:29497275:T:CL1206P0.997
13:29497295:T:CF1213L0.997

dbSNP variants (sampled 300 via entrez): RS1000000306 (13:29280743 G>A), RS1000000488 (13:29006246 T>C), RS1000004691 (13:29000776 C>T), RS1000008285 (13:29124870 G>A), RS1000008877 (13:29053276 C>T), RS1000009060 (13:28965113 A>G), RS1000015001 (13:29368953 T>C), RS1000016991 (13:29242210 C>G,T), RS1000024531 (13:29497306 C>T), RS1000044602 (13:28839082 A>G), RS1000045832 (13:29004734 C>G), RS1000049565 (13:29241990 C>T), RS1000058268 (13:29320510 G>A), RS1000062772 (13:29053512 A>G), RS1000064625 (13:29286798 C>T)

Disease associations

OMIM: gene MIM:619358 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

StudyTraitp-value
GCST000523_3Methotrexate pharmacokinetics (acute lymphoblastic leukemia)6.000000e-06
GCST001586_6Insomnia (caffeine-induced)4.000000e-06
GCST001762_818Obesity-related traits8.000000e-06
GCST003008_8Triptolide cytotoxicity7.000000e-06
GCST011743_54HDL cholesterol levels in HIV infection3.000000e-06
GCST012100_3Hypertrophic cardiomyopathy (sarcomere positive)2.000000e-08

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0007876insomnia measurement
EFO:0005134amino acid measurement
EFO:0006952cytotoxicity measurement
EFO:0004612high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, increases methylation6
sodium arseniteaffects methylation, decreases expression, increases expression3
Cadmiumincreases abundance, increases expression, decreases expression2
bisphenol Aaffects cotreatment, decreases methylation, affects methylation1
N-acetyl-4-benzoquinoneimineaffects response to substance1
aflatoxin B2increases methylation1
entinostatdecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, increases expression1
(+)-JQ1 compoundincreases expression1
Resveratroldecreases expression, affects cotreatment1
Fulvestrantaffects cotreatment, decreases methylation1
Arsenicaffects methylation1
Benzo(a)pyreneaffects methylation, decreases methylation1
Copperaffects cotreatment, decreases expression1
Diethylhexyl Phthalatedecreases expression1
Silicon Dioxidedecreases expression1
Dihydrotestosteroneincreases expression1
Thiramincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Triclosandecreases expression1
Cyclosporineincreases methylation1
Cadmium Chlorideincreases abundance, increases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.