MTUS2

protein-coding

microtubule associated scaffold protein 2

Gene summary

Enables microtubule binding activity and protein homodimerization activity. Located in centrosome; cytoplasmic microtubule; and intercellular bridge. Part of nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA0774

MANE transcript

NM_001033602.4

Inheritance

—

ClinVar variants

U:72B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr13:28,820,339-29,505,947

External References & Databases

Ensembl (ENSG00000132938)

Transcript & Mutation Effects

hg38 • Region Span ~685.6 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MTUS2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 65

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001033602.4. 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			4 clinvar	2 clinvar	3 clinvar	9
missense			65 clinvar	1 clinvar	1 clinvar	67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	72	3	4	79

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001033602.4	RefSeq	NP_001028774.3	14	MANE Select
ENST00000612955.6	Ensembl	ENSP00000483729.2	14	MANE Select
NM_001366650.1	RefSeq	NP_001353579.1	14	Standard
NM_001366651.1	RefSeq	NP_001353580.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
microtubule binding
protein homodimerization activity

Cellular Component

nucleus
cytoplasm
centrosome
cytoplasmic microtubule
microtubule cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000431530
Coding exons: 14
Length: 479145
Individuals with no LoFs: 125235
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 125254
p: 0.0000758

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0835	766	773	0.992	0.0000440	8946
Missense (PolyPhen)		214	245.61	0.87131		3015
Synonymous	-0.240	320	315	1.02	0.0000191	2763
Loss of Function	5.18	10	49.3	0.203	0.00000233	647

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.00010	0.000098	rare
Other	0.00018	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: 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. {ECO:0000269|PubMed:19543227}.;

Intolerance Scores

LoFtool: 0.326
RVIS EVS: 0.53
RVIS percentile EVS: 80.59

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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