MAP7D2

protein-coding

MAP7 domain containing 2, the group of MicroRNA protein coding host genes

Gene summary

Predicted to enable kinesin binding activity and microtubule binding activity. Predicted to be involved in axon development and microtubule cytoskeleton organization. Predicted to be located in microtubule cytoskeleton; midbody; and neuron projection. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001168465.2

Inheritance

—

ClinVar variants

U:174B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.27

Max pathogenic AF

—

Genomic locus

chrX:20,006,713-20,116,907

External References & Databases

Ensembl (ENSG00000184368)

Transcript & Mutation Effects

hg38 • Region Span ~110.2 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 MAP7D2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 120

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001168465.2. 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			9 clinvar	1 clinvar	1 clinvar	11
missense			142 clinvar	11 clinvar		153
nonsense			9 clinvar			9
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			14 clinvar			14
Total	0	0	174	12	1	187

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 56 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001168465.2	RefSeq	NP_001161937.1	16	MANE Select
ENST00000379643.10	Ensembl	ENSP00000368964.5	16	MANE Select
NM_001168466.2	RefSeq	NP_001161938.1	14	Standard
NM_001168467.2	RefSeq	NP_001161939.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

microtubule cytoskeleton organization

Cellular Component

microtubule cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379643
Coding exons: 16
Length: 110205
Individuals with no LoFs: 125713
Homozygous LoFs: 17
Heterozygous LoFs: 18
Defined: 125748
p: 0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.246	306	294	1.04	0.0000235	4963
Missense (PolyPhen)		93	91.272	1.0189		1433
Synonymous	-0.354	115	110	1.04	0.00000861	1520
Loss of Function	3.85	9	32.8	0.274	0.00000281	527

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000076	0.000062	rare
Latino/Admixed American	0.000074	0.000058	rare
Ashkenazi Jewish	0.00013	0.000099	rare
East Asian	0.00014	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00032	0.00023	rare
South Asian	0.00016	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.282
RVIS EVS: 0.02
RVIS percentile EVS: 55.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.162

Gene Damage Prediction

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