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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MAP7D3
MAP7 domain containing 3
Chromosome X · Xq26.3
NCBI Gene: 79649Ensembl: ENSG00000129680.17HGNC: HGNC:25742UniProt: Q8IWC1
87PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membranetubulin bindingmicrotubule cytoskeleton organizationmicrotubule polymerizationcoronary artery diseasediabetes mellitusbreast cancertype 2 diabetes mellitus
✦AI Summary

MAP7D3 (MAP7 domain containing 3) is an X-linked gene encoding a microtubule-associated protein that promotes microtubule assembly and stability. MAP7D3 functions as a kinesin-1 activator by binding to both kinesin-1 motors and microtubules, facilitating motor recruitment and increasing microtubule landing rate and processivity 1. Compared to its paralog MAP7, MAP7D3 exhibits higher affinity for kinesin-1 and lower affinity for microtubules, enabling cotransport with the motor 1. Disease relevance spans neurodevelopmental and reproductive disorders. A novel frameshift mutation (c.2174_2177del) in MAP7D3 was identified in two siblings with severe intellectual disability and autistic traits, with 3D modeling suggesting the variant destabilizes the protein's C-terminal tail and impairs kinesin-1 binding 2. MAP7D3 variants are associated with male infertility: truncating variants were found in an asthenozoospermic patient affecting sperm capacitation 3, and low-frequency variants were identified in nonobstructive azoospermia cases, with knockdown studies showing impaired spermatogonial stem cell function 45. Clinically, MAP7D3 has emerged as a prognostic biomarker in pediatric Wilms tumor 6 and prostate adenocarcinoma 7, with elevated expression correlating with poorer prognosis and altered immunotherapy response in prostate cancer.

Sources cited
1
MAP7D3 binds kinesin-1 and microtubules; increases kinesin-1 landing rate and processivity; has higher affinity for kinesin-1 and lower affinity for microtubules than MAP7
PMID: 30770434
2
Novel MAP7D3 frameshift mutation c.2174_2177del causes severe intellectual disability and autistic traits; variant destabilizes C-terminal tail and impacts kinesin-1 binding
PMID: 37817054
3
Truncating MAP7D3 variants identified in asthenozoospermic infertile patient; variant impairs sperm capacitation phosphorylation cascades
PMID: 37520705
4
MAP7D3 variants associated with male infertility; knockdown of Mtap7d3 in mouse spermatogonial stem cells inhibits self-renewal
PMID: 32376790
5
MAP7D3 identified as risk gene in nonobstructive azoospermia patients; highly/specifically expressed in testes with significant differential expression
PMID: 36259570
6
MAP7D3 included in five-mRNA prognostic signature for pediatric Wilms tumor with AUC of 0.821
PMID: 31701684
7
MAP7D3 identified as most significant angiogenesis-related prognostic gene in prostate adenocarcinoma; upregulated expression correlates with poorer prognosis
PMID: 38817605
8
MAP7D3 listed as candidate gene for human disease in Saudi Arabian genetic disease cohort
PMID: 28600779
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.15Weak
breast cancerOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
prostate adenocarcinomaOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
retinopathyOpen Targets
0.03Suggestive
coronary artery bypassOpen Targets
0.03Suggestive
Myocardial IschemiaOpen Targets
0.03Suggestive
percutaneous transluminal coronary angioplastyOpen Targets
0.03Suggestive
optic choroid disorderOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
coronary atherosclerosisOpen Targets
0.02Suggestive
lobular neoplasiaOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
Reduced sperm motilityOpen Targets
0.01Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TOGARAM2Shared pathway50%TTLL9Shared pathway50%CALML6Shared pathway50%EFCAB11Shared pathway50%TTLL2Shared pathway50%CCDC170Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Heart
55%
Lung
47%
Liver
22%
Bone Marrow
20%
Brain
9%
Gene Interaction Network
Click a node to explore
MAP7D3TOGARAM2TTLL9CALML6EFCAB11TTLL2CCDC170
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IWC1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.57–0.93]
RankingsWhere MAP7D3 stands among ~20K protein-coding genes
  • #5,492of 20,598
    Most Researched87
  • #8,557of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedMAP7D3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
PMID: 37817054
J Mol Neurosci · 2023
0.90
3
[Not Available].
PMID: 29415802
Encephale · 2019
0.80
4
Identification of a five-mRNA signature as a novel potential prognostic biomarker in pediatric Wilms tumor.
PMID: 31701684
Mol Genet Genomic Med · 2020
0.70
5
PMID: 37550720
0.60