MAP7D2

gene
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Also known as FLJ14503

Summary

MAP7D2 (MAP7 domain containing 2, HGNC:25899) is a protein-coding gene on chromosome Xp22.12, encoding MAP7 domain-containing protein 2 (Q96T17). Microtubule-stabilizing protein that plays a role in the control of cell motility and neurite outgrowth via direct binding to the microtubule.

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 axon; microtubule cytoskeleton; and midbody. Predicted to be active in microtubule cytoskeleton.

Source: NCBI Gene 256714 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 189 total
  • MANE Select transcript: NM_001168465

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25899
Approved symbolMAP7D2
NameMAP7 domain containing 2
LocationXp22.12
Locus typegene with protein product
StatusApproved
AliasesFLJ14503
Ensembl geneENSG00000184368
Ensembl biotypeprotein_coding
OMIM301121
Entrez256714

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 16 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000379643, ENST00000379651, ENST00000443379, ENST00000452324, ENST00000466145, ENST00000875378, ENST00000875379, ENST00000875380, ENST00000918363, ENST00000970001, ENST00000970005, ENST00000970007, ENST00000970009, ENST00000970012, ENST00000970014, ENST00000970016, ENST00000970017

RefSeq mRNA: 4 — MANE Select: NM_001168465 NM_001168465, NM_001168466, NM_001168467, NM_152780

CCDS: CCDS14195, CCDS55384, CCDS55385, CCDS55386

Canonical transcript exons

ENST00000379643 — 17 exons

ExonStartEnd
ENSE000013182782005668020056791
ENSE000014819392005082420050946
ENSE000016734812004436420044524
ENSE000016911972001077720011052
ENSE000016941272006341420063577
ENSE000016980092001234920012535
ENSE000017349762002568120025952
ENSE000017639172004250220042629
ENSE000017801692001609420016325
ENSE000018194682000671320008398
ENSE000022570732005287820052988
ENSE000025355462011675020116907
ENSE000034599432001522320015327
ENSE000035389652001356920013625
ENSE000036080232001305420013132
ENSE000036701202002495120025083
ENSE000036836782006472820064805

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 97.46.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1087 / max 325.6449, expressed in 356 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter IDTPM avgSamples expressed
1986702.6194304
1986690.3661112
1986720.3197100
1986630.219848
1986640.218951
1986660.126332
1986650.101932
1986710.070241
1986670.044711
1986680.02178

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
Brodmann (1909) area 23UBERON:001355497.46gold quality
lateral nuclear group of thalamusUBERON:000273697.25gold quality
endothelial cellCL:000011596.78gold quality
middle temporal gyrusUBERON:000277196.47gold quality
ponsUBERON:000098895.52gold quality
dorsal root ganglionUBERON:000004495.12gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099193.90gold quality
primary visual cortexUBERON:000243693.55gold quality
substantia nigra pars compactaUBERON:000196593.02gold quality
corpus epididymisUBERON:000435992.62gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047391.53gold quality
prefrontal cortexUBERON:000045191.35gold quality
Brodmann (1909) area 9UBERON:001354090.46gold quality
frontal cortexUBERON:000187089.71gold quality
substantia nigra pars reticulataUBERON:000196689.71gold quality
occipital lobeUBERON:000202189.69gold quality
superior frontal gyrusUBERON:000266189.65gold quality
postcentral gyrusUBERON:000258189.64gold quality
dorsolateral prefrontal cortexUBERON:000983489.45gold quality
neocortexUBERON:000195089.03gold quality
cerebellar cortexUBERON:000212988.27gold quality
right frontal lobeUBERON:000281088.27gold quality
cerebellar vermisUBERON:000472088.22gold quality
cerebellar hemisphereUBERON:000224588.20gold quality
parietal lobeUBERON:000187288.19gold quality
cerebellumUBERON:000203788.18gold quality
lateral globus pallidusUBERON:000247688.11gold quality
anterior cingulate cortexUBERON:000983588.07gold quality
superior vestibular nucleusUBERON:000722787.92gold quality
right hemisphere of cerebellumUBERON:001489087.66gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-GEOD-134144yes29.49
E-ANND-3no4.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting MAP7D2, 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-450A-1-3P100.0069.331837
HSA-MIR-4262100.0073.263931
HSA-MIR-4713-3P100.0065.92505
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-548P99.9872.253784
HSA-MIR-373-5P99.9875.364753
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-616-5P99.9875.584775
HSA-MIR-570-3P99.9672.414910
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-381-3P99.9371.872854
HSA-MIR-6768-5P99.9267.361942
HSA-MIR-30099.9271.762856
HSA-MIR-368699.9070.532432
HSA-MIR-3529-3P99.9073.553045
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-6515-3P99.8268.191933
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-7856-5P99.7569.992901
HSA-MIR-64699.6867.841645
HSA-MIR-561-3P99.6470.903647

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomap7d2bENSDARG00000045316
danio_reriomap7d2aENSDARG00000068480
mus_musculusMap7d2ENSMUSG00000041020
rattus_norvegicusMap7d2ENSRNOG00000005176
drosophila_melanogasterensFBGN0264693

Paralogs (3): MAP7D1 (ENSG00000116871), MAP7D3 (ENSG00000129680), MAP7 (ENSG00000135525)

Protein

Protein identifiers

MAP7 domain-containing protein 2Q96T17 (reviewed: Q96T17)

All UniProt accessions (6): A0A0K1JRJ6, A0A0K1JS24, A0A0M3R6J9, A0A0M4F6E1, A0A0M4FLI9, Q96T17

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-stabilizing protein that plays a role in the control of cell motility and neurite outgrowth via direct binding to the microtubule. Acts as a critical cofactor for kinesin transport. In the proximal axon, regulates kinesin-1 family members, KIF5A, KIF5B and KIF5C recruitment to microtubules and contributes to kinesin-1-mediated transport in the axons.

Subunit / interactions. Interacts (via N-terminus) with microtubules; facilitates microtubule stabilization. Interacts with kinesin-1 family members, KIF5A, KIF5B and KIF5C.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Midbody. Cell projection. Neuron projection. Axon.

Similarity. Belongs to the MAP7 family.

Isoforms (5)

UniProt IDNamesCanonical?
Q96T17-11yes
Q96T17-22
Q96T17-33
Q96T17-44
Q96T17-55

RefSeq proteins (4): NP_001161937, NP_001161938, NP_001161939, NP_689993 (=MANE)

Domains & families (InterPro)

IDNameType
IPR008604MAP7_famFamily
IPR051483MAP7_domain-containingFamily

Pfam: PF05672

UniProt features (28 total): compositionally biased region 7, splice variant 7, region of interest 5, sequence conflict 4, sequence variant 2, chain 1, modified residue 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96T17-F164.090.21

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_NEUROGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, LIAO_METASTASIS, RICKMAN_HEAD_AND_NECK_CANCER_A, GOCC_NEURON_PROJECTION, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOBP_CELL_PROJECTION_ORGANIZATION, VECCHI_GASTRIC_CANCER_EARLY_DN, ATGTCAC_MIR489, RIGGI_EWING_SARCOMA_PROGENITOR_UP, HOXA4_Q2, GOCC_MIDBODY, GOCC_AXON

GO Biological Process (2): microtubule cytoskeleton organization (GO:0000226), axon development (GO:0061564)

GO Molecular Function (2): microtubule binding (GO:0008017), kinesin binding (GO:0019894)

GO Cellular Component (9): centrosome (GO:0005813), microtubule (GO:0005874), microtubule cytoskeleton (GO:0015630), axon (GO:0030424), midbody (GO:0030496), neuron projection (GO:0043005), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
cytoskeleton organization1
microtubule-based process1
neuron projection development1
tubulin binding1
cytoskeletal protein binding1
centriole1
microtubule organizing center1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
cytoskeleton1
neuron projection1
plasma membrane bounded cell projection1
intracellular anatomical structure1
intracellular membraneless organelle1

Protein interactions and networks

STRING

1480 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MAP7D2NUTM2GQ5VZR2590
MAP7D2TRIM46Q7Z4K8505
MAP7D2RTL9Q8NET4505
MAP7D2NUGGCQ68CJ6452
MAP7D2SCOCQ9UIL1433
MAP7D2RALGPS1Q5JS13427
MAP7D2BCLAF3A2AJT9417
MAP7D2BMERB1Q96MC5416
MAP7D2GALK2Q01415402
MAP7D2MAPK1IP1LQ8NDC0399
MAP7D2BTF3L4Q96K17393
MAP7D2FOXL2NBQ6ZUU3376
MAP7D2POU2AF3A8K830362
MAP7D2NECAP2Q9NVZ3355
MAP7D2PABIR2Q7Z309354

IntAct

150 interactions, top by confidence:

ABTypeScore
EFNB2FAM171A2psi-mi:“MI:0914”(association)0.530
KIAA0753OFD1psi-mi:“MI:2364”(proximity)0.480
MAP7D2HTRA3psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2PTPN3psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2PDZD7psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2PDZK1psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2MAST2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2TAX1BP3psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2PDZD2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2NHERF2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2DLG3psi-mi:“MI:0407”(direct interaction)0.440
APBA3MAP7D2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2MAGI3psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2LRRC7psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2PDZRN4psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2PCLOpsi-mi:“MI:0407”(direct interaction)0.440
MAP7D2PATJpsi-mi:“MI:0407”(direct interaction)0.440
MAP7D2DLG1psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2LIMK2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2SNTG1psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2GIPC2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2ARHGEF11psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2LIN7Apsi-mi:“MI:0407”(direct interaction)0.440
MAP7D2MAGI2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2ARHGAP21psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2FRMPD2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2LNX2psi-mi:“MI:0407”(direct interaction)0.440
MAP7D2WHRNpsi-mi:“MI:0407”(direct interaction)0.440

BioGRID (102): MAP7D2 (Affinity Capture-MS), MAP7D2 (Affinity Capture-MS), MAP7D2 (Affinity Capture-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), KIF20A (Affinity Capture-MS), BEND3 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), HERC2 (Affinity Capture-MS), USP20 (Affinity Capture-MS), MAP7D2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7

Diamond homologs: A0A8I5ZM56, A2AG50, A2AJI0, D4A4L4, O88735, Q14244, Q3KQU3, Q5R7F9, Q5ZIA2, Q96T17

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 120 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
Negative regulation of NMDA receptor-mediated neuronal transmission644.7×3e-07
Ras activation upon Ca2+ influx through NMDA receptor539.1×1e-05
Unblocking of NMDA receptors, glutamate binding and activation537.2×1e-05
Long-term potentiation532.6×2e-05
Assembly and cell surface presentation of NMDA receptors931.3×1e-09
Neurexins and neuroligins1027.0×9e-10
Protein-protein interactions at synapses621.8×2e-05
RHOC GTPase cycle510.0×4e-03

GO biological processes:

GO termPartnersFoldFDR
establishment or maintenance of epithelial cell apical/basal polarity1157.1×2e-14
protein localization to synapse641.0×1e-06
receptor clustering739.0×2e-07
regulation of postsynaptic membrane neurotransmitter receptor levels731.0×6e-07
cell-cell adhesion109.1×2e-05
protein-containing complex assembly88.1×5e-04
nervous system development114.5×2e-03
protein transport103.9×8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance107
Likely benign13
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3056 predictions. Top by Δscore:

VariantEffectΔscore
X:20010771:CTGTA:Cdonor_loss1.0000
X:20010772:TGTAC:Tdonor_loss1.0000
X:20010773:GTACC:Gdonor_loss1.0000
X:20010774:TACC:Tdonor_loss1.0000
X:20010775:A:Tdonor_loss1.0000
X:20010776:C:CAdonor_loss1.0000
X:20011048:CAGGA:Cacceptor_gain1.0000
X:20011049:AGGA:Aacceptor_gain1.0000
X:20011050:GGA:Gacceptor_gain1.0000
X:20011053:C:CCacceptor_gain1.0000
X:20012345:ATACC:Adonor_loss1.0000
X:20012350:T:TAdonor_gain1.0000
X:20012355:T:TAdonor_gain1.0000
X:20012533:TTT:Tacceptor_gain1.0000
X:20012536:C:CCacceptor_gain1.0000
X:20012541:C:CTacceptor_gain1.0000
X:20012542:G:Tacceptor_gain1.0000
X:20013050:TCA:Tdonor_loss1.0000
X:20013051:CA:Cdonor_loss1.0000
X:20013052:A:ACdonor_gain1.0000
X:20013052:A:Cdonor_loss1.0000
X:20013052:AC:Adonor_gain1.0000
X:20013052:ACC:Adonor_gain1.0000
X:20013053:C:CCdonor_gain1.0000
X:20013053:C:Gdonor_loss1.0000
X:20013053:CC:Cdonor_gain1.0000
X:20013053:CCC:Cdonor_gain1.0000
X:20013053:CCCA:Cdonor_gain1.0000
X:20013053:CCCAT:Cdonor_gain1.0000
X:20013129:CTTT:Cacceptor_gain1.0000

AlphaMissense

5002 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
X:20013612:A:CI547S0.999
X:20013612:A:GI547T0.999
X:20063539:C:GA83P0.999
X:20064751:C:GR62P0.999
X:20013623:T:AR543S0.998
X:20013623:T:GR543S0.998
X:20015229:T:AR540S0.998
X:20015229:T:GR540S0.998
X:20064753:T:AR61S0.998
X:20064753:T:GR61S0.998
X:20013602:T:AR550S0.997
X:20013602:T:GR550S0.997
X:20013609:A:GM548T0.997
X:20063455:C:GA111P0.997
X:20063481:C:GR102P0.997
X:20063505:C:GR94P0.997
X:20063571:C:GR72P0.997
X:20064764:C:GA58P0.997
X:20013612:A:TI547N0.996
X:20064754:C:GR61T0.996
X:20064774:C:AR54S0.996
X:20064774:C:GR54S0.996
X:20011052:A:CS650R0.995
X:20011052:A:TS650R0.995
X:20012350:T:GS650R0.995
X:20013596:C:AR552S0.995
X:20013596:C:GR552S0.995
X:20013608:C:AM548I0.995
X:20013608:C:GM548I0.995
X:20013608:C:TM548I0.995

dbSNP variants (sampled 300 via entrez): RS1000001636 (X:20096442 A>G), RS1000008761 (X:20034271 C>A,T), RS1000066829 (X:20056834 C>G,T), RS1000082521 (X:20086754 A>G), RS1000096944 (X:20049147 C>T), RS1000128049 (X:20048811 C>T), RS1000232778 (X:20114051 C>T), RS1000250938 (X:20114281 C>T), RS1000288707 (X:20038494 C>A,G), RS1000319174 (X:20026983 A>C), RS1000417356 (X:20104130 A>C), RS1000429979 (X:20024724 T>A), RS1000435930 (X:20112963 G>C), RS1000447628 (X:20103972 C>T), RS1000486079 (X:20104658 T>A,G)

Disease associations

OMIM: gene MIM:301121 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression5
Benzo(a)pyreneaffects methylation, increases expression3
sodium arseniteincreases expression2
belinostatdecreases expression, affects cotreatment2
Formaldehydedecreases expression, increases expression2
FR900359affects phosphorylation1
kojic aciddecreases expression1
trichostatin Adecreases expression, increases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
aflatoxin B2increases methylation1
hydroquinonedecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression, increases expression1
ICG 001decreases expression1
abrinedecreases expression1
dorsomorphindecreases expression, increases expression, affects cotreatment1
licochalcone Bincreases expression1
bisphenol Sdecreases expression1
jinfukangaffects cotreatment, increases expression1
Panobinostatdecreases expression, affects cotreatment1
Acetaminophendecreases expression1
Caffeinedecreases phosphorylation1
Calcitriolincreases expression, affects cotreatment1
Cisplatinaffects cotreatment, increases expression1
Demecolcineincreases expression1
Estradiolaffects cotreatment, decreases expression1
Smokedecreases expression1
Testosteroneaffects cotreatment, increases expression1
Tobacco Smoke Pollutiondecreases expression1
Vanadatesdecreases expression1
Cyclosporinedecreases 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.