MAP10

protein-coding

microtubule associated protein 10

Gene summary

Enables microtubule binding activity. Involved in microtubule cytoskeleton organization; positive regulation of cytokinesis; and regulation of microtubule-based process. Located in microtubule cytoskeleton and midbody. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • KIAA1383

MANE transcript

NM_019090.3

Inheritance

—

ClinVar variants

U:127B:18

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.99

Max pathogenic AF

—

Genomic locus

chr1:232,805,416-232,809,929

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~4.5 kb
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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 MAP10 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 143
not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019090.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
127
clinvar
15
clinvar
2
clinvar
144
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00127162145
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_019090.3RefSeqNP_061963.31MANE Select
ENST00000418460.4EnsemblENSP00000403208.21MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • cytoplasmic microtubule organization
  • positive regulation of cytokinesis
  • regulation of microtubule-based process
  • mitotic spindle midzone assembly
  • cell division

Molecular Function

  • microtubule binding

Cellular Component

  • centrosome
  • cytoplasmic microtubule
  • midbody
  • mitotic spindle pole
  • mitotic spindle midzone

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000418460
Coding exons
1
Length
5450
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-1.326325451.160.00002566780
Missense (PolyPhen)149130.491.14191773
Synonymous-3.122812221.270.00001072095
Loss of Function0.04423131.30.9910.00000140433

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Microtubule-associated protein (MAP) that plays a role in the regulation of cell division; promotes microtubule stability and participates in the organization of the spindle midzone and normal progress of cytokinesis. {ECO:0000269|PubMed:23264731}.;

Intolerance Scores

RVIS EVS
0.74
RVIS percentile EVS
86.35

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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