MAP7

Summary

MAP7 (microtubule associated protein 7, HGNC:6869) is a protein-coding gene on chromosome 6q23.3, encoding Ensconsin (Q14244). Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells.

The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9053 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 172 total
• Druggable target: yes
• MANE Select transcript: NM_003980

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6869
Approved symbol	MAP7
Name	microtubule associated protein 7
Location	6q23.3
Locus type	gene with protein product
Status	Approved
Aliases	E-MAP-115
Ensembl gene	ENSG00000135525
Ensembl biotype	protein_coding
OMIM	604108
Entrez	9053

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 19 protein_coding

ENST00000354570, ENST00000432797, ENST00000438100, ENST00000454590, ENST00000544465, ENST00000611373, ENST00000616617, ENST00000617204, ENST00000618822, ENST00000877102, ENST00000877103, ENST00000877104, ENST00000877105, ENST00000938976, ENST00000938977, ENST00000938978, ENST00000938979, ENST00000964028, ENST00000964029

RefSeq mRNA: 36 — MANE Select: NM_003980 NM_001198608, NM_001198609, NM_001198611, NM_001198614, NM_001198615, NM_001198616, NM_001198617, NM_001198618, NM_001198619, NM_001388328, NM_001388329, NM_001388330, NM_001388331, NM_001388332, NM_001388333, NM_001388334, NM_001388335, NM_001388336, NM_001388337, NM_001388338, NM_001388339, NM_001388340, NM_001388341, NM_001388342, NM_001388343, NM_001388344, NM_001388345, NM_001388346, NM_001388347, NM_001388348, NM_001388349, NM_001388350, NM_001388351, NM_001388352, NM_001388353, NM_003980

CCDS: CCDS5178, CCDS56452, CCDS56453, CCDS56454, CCDS56455, CCDS75527, CCDS75528, CCDS75529

Canonical transcript exons

ENST00000354570 — 18 exons

Exon	Start	End
ENSE00000798861	136359820	136359877
ENSE00000798866	136359981	136360031
ENSE00000798870	136360697	136360798
ENSE00001084662	136356692	136356794
ENSE00001084663	136372501	136372625
ENSE00001084667	136361005	136361179
ENSE00001084668	136383671	136383781
ENSE00001084669	136365735	136366018
ENSE00001084671	136366327	136366439
ENSE00001084672	136377755	136377868
ENSE00001084675	136362450	136362702
ENSE00001416995	136345856	136346079
ENSE00001433366	136342734	136344238
ENSE00003494473	136421701	136421799
ENSE00003517069	136389354	136389517
ENSE00003563204	136388393	136388510
ENSE00003660789	136411620	136411697
ENSE00003918944	136550342	136550422

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 98.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.2162 / max 732.0343, expressed in 1038 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75783	10.1732	981
75777	4.1183	150
75772	0.6988	85
75781	0.5410	85
75771	0.4704	82
75773	0.4061	95
75785	0.3598	171
75774	0.2128	76
75770	0.1951	72
75778	0.1792	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.85	gold quality
inferior vagus X ganglion	UBERON:0005363	97.62	gold quality
hair follicle	UBERON:0002073	97.53	gold quality
inferior olivary complex	UBERON:0002127	97.25	gold quality
cranial nerve II	UBERON:0000941	97.20	gold quality
subthalamic nucleus	UBERON:0001906	97.19	gold quality
nephron tubule	UBERON:0001231	97.07	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.95	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.94	gold quality
jejunal mucosa	UBERON:0000399	96.88	gold quality
corpus callosum	UBERON:0002336	96.82	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.63	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.61	gold quality
colonic mucosa	UBERON:0000317	96.51	gold quality
globus pallidus	UBERON:0001875	96.41	gold quality
esophagus squamous epithelium	UBERON:0006920	96.41	gold quality
medial globus pallidus	UBERON:0002477	96.33	gold quality
lateral globus pallidus	UBERON:0002476	96.24	gold quality
medulla oblongata	UBERON:0001896	96.13	gold quality
spinal cord	UBERON:0002240	96.09	gold quality
bronchial epithelial cell	CL:0002328	96.07	gold quality
gingival epithelium	UBERON:0001949	95.80	gold quality
CA1 field of hippocampus	UBERON:0003881	95.77	gold quality
squamous epithelium	UBERON:0006914	95.69	gold quality
corpus epididymis	UBERON:0004359	95.66	gold quality
amniotic fluid	UBERON:0000173	95.37	gold quality
gingiva	UBERON:0001828	95.28	gold quality
superior vestibular nucleus	UBERON:0007227	94.99	gold quality
cervix squamous epithelium	UBERON:0006922	94.77	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	94.72	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	106.80
E-HCAD-25	yes	67.96
E-MTAB-7316	yes	39.76
E-GEOD-137537	yes	16.93
E-ANND-3	yes	9.79
E-CURD-112	yes	5.46
E-MTAB-8410	yes	4.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

132 targeting MAP7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690

Literature-anchored findings (GeneRIF, showing 11)

• Study of 117 patients suggests MAP7 as a candidate gene for sacral dysgenesis. However, we were unable to detect any sacral defects in the MAP7 knockout mice. (PMID:15218243)
• the expression ratio of Map7/B2M may serve as a valuable prognostic marker in patients with Stage II colon cancer (PMID:18695889)
• findings demonstrate the efficacy of quantitative proteomics for identifying effector-host protein interactions and suggest that vesicular trafficking is a crucial cellular process that may be targeted by NleB1 and EspL through their interaction with ensconsin. (PMID:27018634)
• Here we show that in HeLa cells, the paralogous MT-associated proteins Map7 and Map7D1 (Map7/7D1) form an interdependent regulatory loop with Disheveled, the critical signal transducer in Wnt signaling (PMID:29880710)
• MAP7 proteins are microtubule-tethered kinesin-1 activators, with which the motor transiently interacts as it moves along microtubules. (PMID:30770434)
• MAP7 interacts with RC3H1 and cooperatively regulate cell-cycle progression of cervical cancer cells via activating the NF-kappaB signaling. (PMID:32446391)
• Plasma Exosomal CircNEK9 Accelerates the Progression of Gastric Cancer via miR-409-3p/MAP7 Axis. (PMID:33449227)
• Structural and functional insight into regulation of kinesin-1 by microtubule-associated protein MAP7. (PMID:35050657)
• Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute Myeloid Leukemia Patients. (PMID:35633546)
• MAP7 Promotes Breast Cancer Cell Migration and Invasion by Regulating the NF-B Pathway. (PMID:36261182)
• A structural and dynamic visualization of the interaction between MAP7 and microtubules. (PMID:38431715)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	map7a	ENSDARG00000078241
danio_rerio	map7b	ENSDARG00000104435
mus_musculus	Map7	ENSMUSG00000019996
rattus_norvegicus	Map7	ENSRNOG00000012701
drosophila_melanogaster	ens	FBGN0264693

Paralogs (3): MAP7D1 (ENSG00000116871), MAP7D3 (ENSG00000129680), MAP7D2 (ENSG00000184368)

Protein

Protein identifiers

Ensconsin — Q14244 (reviewed: Q14244)

Alternative names: Epithelial microtubule-associated protein of 115 kDa, Microtubule-associated protein 7

All UniProt accessions (2): A0A087WZ40, Q14244

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments.

Subunit / interactions. Interacts with TRPV4.

Subcellular location. Cytoplasm. Perinuclear region. Basolateral cell membrane. Cytoskeleton.

Tissue specificity. Expressed in the skin and cells of epithelial origin. Predominantly expressed in the suprabasal layers of the normal epidermis and relatively abundant in squamous cell carcinomas but barely detectable in basal cell carcinomas.

Post-translational modifications. The association with microtubules is regulated by phosphorylation during the cell cycle. During interphase only phosphorylated on serine. Phosphorylated on threonine in mitosis.

Induction. Up-regulated upon terminal differentiation of primary keratinocytes.

Similarity. Belongs to the MAP7 family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q14244-1	1	yes
Q14244-2	2, E-MAP-115-105
Q14244-3	3, E-MAP-115-95
Q14244-4	4
Q14244-5	5
Q14244-6	6
Q14244-7	7

RefSeq proteins (36): NP_001185537, NP_001185538, NP_001185540, NP_001185543, NP_001185544, NP_001185545, NP_001185546, NP_001185547, NP_001185548, NP_001375257, NP_001375258, NP_001375259, NP_001375260, NP_001375261, NP_001375262, NP_001375263, NP_001375264, NP_001375265, NP_001375266, NP_001375267, NP_001375268, NP_001375269, NP_001375270, NP_001375271, NP_001375272, NP_001375273, NP_001375274, NP_001375275, NP_001375276, NP_001375277, NP_001375278, NP_001375279, NP_001375280, NP_001375281, NP_001375282, NP_003971* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008604	MAP7_fam	Family
IPR051483	MAP7_domain-containing	Family

Pfam: PF05672

UniProt features (53 total): modified residue 16, compositionally biased region 12, cross-link 5, splice variant 5, region of interest 4, sequence variant 3, sequence conflict 3, coiled-coil region 2, initiator methionine 1, chain 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7SGS	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14244-F1	62.72	0.24

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 (21): 2, 161, 165, 183, 200, 202, 209, 219, 231, 235, 254, 277, 282, 335, 365, 673, 273, 295, 373, 377 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 304 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, JAEGER_METASTASIS_DN, TGCACTT_MIR519C_MIR519B_MIR519A, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, AREB6_01, TAL1ALPHAE47_01, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, MODULE_66, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, MYCMAX_01, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (4): microtubule cytoskeleton organization (GO:0000226), response to osmotic stress (GO:0006970), establishment or maintenance of cell polarity (GO:0007163), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (3): signaling receptor binding (GO:0005102), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (11): cytosol (GO:0005829), microtubule (GO:0005874), microtubule associated complex (GO:0005875), microtubule cytoskeleton (GO:0015630), basolateral plasma membrane (GO:0016323), axon (GO:0030424), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
microtubule cytoskeleton	2
cytoskeleton organization	1
microtubule-based process	1
response to stress	1
response to abiotic stimulus	1
cellular process	1
protein localization to membrane	1
protein localization to cell periphery	1
protein binding	1
molecular_function	1
binding	1
polymeric cytoskeletal fiber	1
protein-containing complex	1
cytoskeleton	1
basal plasma membrane	1
plasma membrane region	1
neuron projection	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1528 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAP7	TRPV4	Q9HBA0	732
MAP7	RPS14	P06366	697
MAP7	MAPRE3	Q9UPY8	584
MAP7	RXRA	P19793	583
MAP7	RARA	P10276	522
MAP7	KIF5B	P33176	513
MAP7	DRG2	P55039	476
MAP7	PACSIN3	Q9UKS6	473
MAP7	LRRC18	Q8N456	472
MAP7	CAMSAP2	Q08AD1	439
MAP7	GAS2L1	Q99501	414
MAP7	KIF1A	Q12756	413
MAP7	CLIP1	P30622	406
MAP7	MAP9	Q49MG5	399
MAP7	MAP4	P27816	388
MAP7	SVBP	Q8N300	388

IntAct

129 interactions, top by confidence:

A	B	Type	Score
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
KLHL22	METTL15	psi-mi:“MI:0914”(association)	0.640
nleB1	MAP7	psi-mi:“MI:0915”(physical association)	0.590
MAP7	nleB1	psi-mi:“MI:0915”(physical association)	0.590
espL2	MAP7	psi-mi:“MI:0915”(physical association)	0.580
MAP7	espL2	psi-mi:“MI:0915”(physical association)	0.580
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
ZNF114	MAP7	psi-mi:“MI:0915”(physical association)	0.560
MAP7	CCDC70	psi-mi:“MI:0915”(physical association)	0.560
MAP7	CLIP4	psi-mi:“MI:0915”(physical association)	0.560
MAP7	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CBY1	CFAP410	psi-mi:“MI:0914”(association)	0.510
KIAA0753	OFD1	psi-mi:“MI:2364”(proximity)	0.480
MAP7	TERF1	psi-mi:“MI:0915”(physical association)	0.370
MAP7	POT1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (281): MAP7 (Affinity Capture-MS), MAP7 (Affinity Capture-MS), MAP7 (Affinity Capture-MS), MAP7 (Affinity Capture-MS), MAP7 (Biochemical Activity), MAP7 (Biochemical Activity), MAP7 (Proximity Label-MS), MAP7 (Proximity Label-MS), MAP7 (Proximity Label-MS), MAP7 (Proximity Label-MS), MAP7 (Affinity Capture-MS), MAP7 (Affinity Capture-MS), MAP7 (Affinity Capture-MS), MAP7 (Affinity Capture-MS), MAP7 (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 155 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:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	48.1×	3e-07
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	42.4×	4e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	42.4×	4e-07
Activation of BH3-only proteins	6	31.4×	2e-06
RHO GTPases activate PKNs	7	23.4×	1e-06
Intrinsic Pathway for Apoptosis	7	21.6×	2e-06
Activation of AMPK downstream of NMDARs	5	20.0×	1e-04
Translocation of SLC2A4 (GLUT4) to the plasma membrane	11	17.9×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	9	7.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	140
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3569 predictions. Top by Δscore:

Variant	Effect	Δscore
6:136346075:GAGTG:G	acceptor_gain	1.0000
6:136346076:AGTG:A	acceptor_gain	1.0000
6:136346077:GTG:G	acceptor_gain	1.0000
6:136346077:GTGCT:G	acceptor_loss	1.0000
6:136346078:TG:T	acceptor_gain	1.0000
6:136346080:C:CC	acceptor_gain	1.0000
6:136346081:T:C	acceptor_loss	1.0000
6:136346087:A:AC	acceptor_gain	1.0000
6:136346087:A:C	acceptor_gain	1.0000
6:136346088:T:C	acceptor_gain	1.0000
6:136346088:T:TC	acceptor_gain	1.0000
6:136346089:T:C	acceptor_gain	1.0000
6:136346089:T:TC	acceptor_gain	1.0000
6:136356790:CACCT:C	acceptor_gain	1.0000
6:136356800:CATAG:C	acceptor_gain	1.0000
6:136356801:A:AC	acceptor_gain	1.0000
6:136356801:A:C	acceptor_gain	1.0000
6:136356804:G:C	acceptor_gain	1.0000
6:136356804:G:GC	acceptor_gain	1.0000
6:136359875:TTT:T	acceptor_gain	1.0000
6:136359876:TT:T	acceptor_gain	1.0000
6:136359878:C:CC	acceptor_gain	1.0000
6:136359977:ATACC:A	donor_loss	1.0000
6:136359978:TACC:T	donor_loss	1.0000
6:136359979:ACCTT:A	donor_loss	1.0000
6:136359985:T:C	donor_gain	1.0000
6:136360027:AGTCG:A	acceptor_gain	1.0000
6:136360028:GTCG:G	acceptor_gain	1.0000
6:136360029:TCG:T	acceptor_gain	1.0000
6:136360029:TCGCT:T	acceptor_loss	1.0000

AlphaMissense

4822 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:136360018:A:G	I606T	0.999
6:136360018:A:C	I606S	0.998
6:136360703:T:A	R599S	0.998
6:136360703:T:G	R599S	0.998
6:136362515:C:A	R487S	0.998
6:136362515:C:G	R487S	0.998
6:136388498:C:G	A141P	0.998
6:136411643:C:G	R74P	0.998
6:136411646:C:G	R73P	0.998
6:136360008:T:A	R609S	0.997
6:136360008:T:G	R609S	0.997
6:136360030:C:G	R602P	0.997
6:136389379:C:G	R128P	0.997
6:136389445:C:G	R106P	0.997
6:136389479:C:G	A95P	0.997
6:136411652:C:G	R71P	0.997
6:136360015:A:G	M607T	0.996
6:136360027:A:G	L603P	0.996
6:136362516:C:A	R487M	0.996
6:136362516:C:G	R487T	0.996
6:136377786:A:C	S240R	0.996
6:136377786:A:T	S240R	0.996
6:136377788:T:G	S240R	0.996
6:136388485:C:G	R145P	0.996
6:136389395:C:G	A123P	0.996
6:136389402:C:A	R120S	0.996
6:136389402:C:G	R120S	0.996
6:136411644:G:T	R74S	0.996
6:136411661:C:G	R68P	0.996
6:136360014:C:A	M607I	0.995

dbSNP variants (sampled 300 via entrez): RS1000043877 (6:136466784 C>T), RS1000077177 (6:136468327 T>C), RS1000090158 (6:136367464 G>A), RS1000097718 (6:136459500 A>T), RS1000101282 (6:136397294 GT>G,GTT), RS1000108342 (6:136375149 C>T), RS1000123207 (6:136460666 T>C), RS1000155173 (6:136511641 C>T), RS1000159177 (6:136375450 A>G), RS1000168015 (6:136454231 T>C), RS1000169196 (6:136439742 A>C), RS1000189994 (6:136409266 T>C), RS1000223566 (6:136447259 T>C), RS1000227407 (6:136353045 T>A), RS1000239906 (6:136551761 G>T)

Disease associations

OMIM: gene MIM:604108 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005024_73	Pursuit maintenance gain	8.000000e-06
GCST009246_136	Cerebrospinal fluid sTREM-2 levels	4.000000e-12
GCST011974_8	Lung cancer	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement
EFO:0010151	soluble triggering receptor expressed on myeloid cells 2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067298 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.13	Kd	7.402	nM	CHEMBL5653589
8.13	ED50	7.402	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148702: Binding affinity to human MAP7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0074	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	5
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	decreases methylation, increases expression, decreases expression	3
Aflatoxin B1	affects expression, decreases expression, decreases methylation	3
methylmercuric chloride	decreases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Cisplatin	decreases expression, affects expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects cotreatment	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Decitabine	affects expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651744	Binding	Binding affinity to human MAP7 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.