MAPRE3

Summary

MAPRE3 (microtubule associated protein RP/EB family member 3, HGNC:6892) is a protein-coding gene on chromosome 2p23.3, encoding Microtubule-associated protein RP/EB family member 3 (Q9UPY8). Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton.

The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene.

Source: NCBI Gene 22924 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_012326

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6892
Approved symbol	MAPRE3
Name	microtubule associated protein RP/EB family member 3
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	RP3, EB3
Ensembl gene	ENSG00000084764
Ensembl biotype	protein_coding
OMIM	605788
Entrez	22924

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 20 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000233121, ENST00000402218, ENST00000405074, ENST00000458529, ENST00000474367, ENST00000475633, ENST00000481222, ENST00000491354, ENST00000494788, ENST00000648289, ENST00000879838, ENST00000879839, ENST00000879840, ENST00000879841, ENST00000879842, ENST00000879843, ENST00000879844, ENST00000879845, ENST00000879846, ENST00000879847, ENST00000928331, ENST00000969422, ENST00000969423, ENST00000969424, ENST00000969425

RefSeq mRNA: 3 — MANE Select: NM_012326 NM_001303050, NM_001410716, NM_012326

CCDS: CCDS1731, CCDS92722

Canonical transcript exons

ENST00000233121 — 7 exons

Exon	Start	End
ENSE00000731657	27023332	27023477
ENSE00000731724	27024096	27024297
ENSE00000731725	27025583	27025737
ENSE00000809043	27025880	27026032
ENSE00001917487	26970637	26970802
ENSE00003677955	27022212	27022339
ENSE00003893218	27026280	27027219

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 99.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.0675 / max 521.4302, expressed in 1780 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19299	36.2428	1780
19300	0.3886	171
19297	0.1452	71
19303	0.1381	55
19302	0.0881	3
19298	0.0591	25
19301	0.0057	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 10	UBERON:0013541	99.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.65	gold quality
cerebellar hemisphere	UBERON:0002245	98.60	gold quality
cerebellar cortex	UBERON:0002129	98.59	gold quality
right uterine tube	UBERON:0001302	98.45	gold quality
right frontal lobe	UBERON:0002810	98.45	gold quality
middle frontal gyrus	UBERON:0002702	98.44	gold quality
paraflocculus	UBERON:0005351	98.43	gold quality
frontal pole	UBERON:0002795	98.36	gold quality
cingulate cortex	UBERON:0003027	98.22	gold quality
anterior cingulate cortex	UBERON:0009835	98.21	gold quality
prefrontal cortex	UBERON:0000451	98.13	gold quality
adenohypophysis	UBERON:0002196	98.12	gold quality
cerebellar vermis	UBERON:0004720	98.07	gold quality
nucleus accumbens	UBERON:0001882	98.03	gold quality
type B pancreatic cell	CL:0000169	98.02	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.70	gold quality
amygdala	UBERON:0001876	97.69	gold quality
cerebellum	UBERON:0002037	97.62	gold quality
putamen	UBERON:0001874	97.22	gold quality
cortical plate	UBERON:0005343	97.17	gold quality
pituitary gland	UBERON:0000007	97.15	gold quality
olfactory bulb	UBERON:0002264	97.02	silver quality
gastrocnemius	UBERON:0001388	96.90	gold quality
vena cava	UBERON:0004087	96.84	gold quality
caudate nucleus	UBERON:0001873	96.69	gold quality
frontal cortex	UBERON:0001870	96.58	gold quality
neocortex	UBERON:0001950	96.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.34	gold quality
hypothalamus	UBERON:0001898	96.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.65
E-GEOD-84465	yes	6.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting MAPRE3, 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-4673	100.00	66.64	1490
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870

Literature-anchored findings (GeneRIF, showing 20)

• neither APC nor p150glued binding domain is necessary for EB1 or EBF3 to induce microtubule bundling (PMID:14514668)
• The RP3 protein is involved in SATB1-mediated gene repression of Bcl2 and dynein subunit rp3 has functions independent of the dynein motor. (PMID:16079286)
• Protein depletion and rescue experiments showed that EB1 and EB3, but not EB2, promote persistent microtubule growth by suppressing catastrophes. (PMID:19255245)
• Data show that two mitotic kinases, Aurora-A and Aurora-B, phosphorylate endogenous EB3 at Ser-176, and the phosphorylation triggers disruption of the EB3-SIAH-1 complex, resulting in EB3 stabilization during mitosis. (PMID:19696028)
• heterodimer formation between EB1 and EB3, but not between EB2 and the other two EBs, occurs both in vitro and in cells as revealed by live cell imaging (PMID:20008324)
• study found a polycytosine repeat (C8) in exon 5 of MAPRE3 that could be a potential mutation target in cancers with microsatellite instability (MSI); found that the C8 is frequently mutated in gastric and colorectal carcinomas with MSI (PMID:20632835)
• Data indicated that EB1 and EB3 interact with proteins implicated in MT minus-end anchoring or vesicular trafficking to the cilia base, suggesting that EB1 and EB3 promote ciliogenesis by facilitating such trafficking. (PMID:21768326)
• decreasing the drebrin E levels disrupted the normal subapical F-actin-myosin-IIB-betaII-spectrin network and the apical accumulation of EB3, a microtubule-plus-end-binding protein (PMID:22275434)
• VE-cadherin outside-in signaling regulates cytosolic calcium homeostasis and EB3 phosphorylation. (PMID:23159740)
• Findings suggest that methylation-associated down-regulation of EBF3 and IRX1 genes may play an important role in a pathogenic effect of TGF-beta on RASFs. (PMID:23456299)
• Daughter cell adhesion and cytokinesis completion are spatially regulated by distinct states of EB3 phosphorylation on serine 176 by Aurora B. (PMID:23712260)
• EB1 and EB3 proteins are obligatory dimers. (PMID:24040250)
• Aptamers binding to human EB1 and EB3, which have sequence requirements similar to but distinct from each other and from Drosophila EB1, were identified. (PMID:24478452)
• Findings show that co-ordination of dynamic microtubules and actin filaments by the drebrin/EB3 pathway drives prostate cancer cell invasion and is therefore implicated in disease progression. (PMID:28319065)
• EB1 and EB3 thus affect multiple interphase processes and have a major impact on microtubule minus end organization. (PMID:28814570)
• One candidate pathway coupling actin filaments to microtubules consists of the actin filament-binding protein drebrin and the microtubule-binding +TIP protein EB3. This pathway is regulated proximally by cyclin-dependent kinase 5 phosphorylation of drebrin but the upstream elements in the pathway have yet to be identified. (PMID:28865014)
• IP3K-A binds to EB3 and their binding affinity is precisely regulated by protein kinase A (PKA)-dependent phosphorylation of IP3K-A at Ser119 (pSer119). The complex of IP3K-A and EB3 dissociates and reassociates rapidly during chemically induced LTP. (PMID:30466786)
• Extracellular recordings revealed that the V337M tau mutation leads to an abnormal increase in neuronal activity in response to chronic depolarization. In neurons with this mutation, axon initial segment (AIS) plasticity is impaired by the abnormal accumulation of end-binding protein 3 (EB3) in the AIS submembrane region. (PMID:31542321)
• structure prediction of the C-terminal domain of the microtubule end-binding protein 3 (PMID:32421702)
• MAPRE3 as an epigenetic target of EZH2 restricts ovarian cancer proliferation in vitro and in vivo. (PMID:38199479)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	mapre3a	ENSDARG00000020231
danio_rerio	mapre3b	ENSDARG00000102878
mus_musculus	Mapre3	ENSMUSG00000029166
rattus_norvegicus	Mapre3	ENSRNOG00000008961
drosophila_melanogaster	CG15306	FBGN0030191
caenorhabditis_elegans		WBGENE00007062
caenorhabditis_elegans		WBGENE00012156
caenorhabditis_elegans		WBGENE00013344

Paralogs (2): MAPRE1 (ENSG00000101367), MAPRE2 (ENSG00000166974)

Protein

Protein identifiers

Microtubule-associated protein RP/EB family member 3 — Q9UPY8 (reviewed: Q9UPY8)

Alternative names: EB1 protein family member 3, End-binding protein 3, RP3

All UniProt accessions (2): Q9UPY8, C9JB30

UniProt curated annotations — full annotation on UniProt →

Function. Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement. Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules.

Subunit / interactions. Homodimer. Heterodimer with MAPRE1. Binds monomeric and polymerized GTP-bound tubulin. Interacts with APC2. Interacts with DCTN1 and SRCIN1. Binds to the C-terminal domain of APC. Interacts (via C-terminus) with CLIP1. Interacts with SLAIN2 and SLAIN1. Interacts with AKAP9. Interacts with PDE4DIP. Interacts with PDE4DIP isoform 13/MMG8/SMYLE; this interaction is required for its recruitment to the Golgi apparatus.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Predominantly expressed in brain and muscle.

Domain organisation. Composed of two functionally independent domains. The N-terminal domain forms a hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1.

Similarity. Belongs to the MAPRE family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UPY8-1	1, EBF3-L	yes
Q9UPY8-2	2, EBF3-S

RefSeq proteins (3): NP_001289979, NP_001397645, NP_036458* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001715	CH_dom	Domain
IPR004953	EB1_C	Domain
IPR027328	MAPRE	Family
IPR036133	EB1_C_sf	Homologous_superfamily
IPR036872	CH_dom_sf	Homologous_superfamily

Pfam: PF00307, PF03271

UniProt features (29 total): helix 9, sequence conflict 4, region of interest 4, domain 2, modified residue 2, mutagenesis site 2, compositionally biased region 2, chain 1, splice variant 1, strand 1, turn 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
3CO1	X-RAY DIFFRACTION	1.4
3TQ7	X-RAY DIFFRACTION	2.3
3JAK	ELECTRON MICROSCOPY	3.3
3JAR	ELECTRON MICROSCOPY	3.4
3JAL	ELECTRON MICROSCOPY	3.5
7SJ9	ELECTRON MICROSCOPY	3.8
9F3S	ELECTRON MICROSCOPY	4.2
9F3R	ELECTRON MICROSCOPY	4.3
1WYO	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPY8-F1	79.69	0.54

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 (2): 176, 162

Mutagenesis-validated functional residues (2):

Position	Phenotype
226	loss of localization of camsap2 stretches to the golgi apparatus; when associated with a-234.
234	loss of localization of camsap2 stretches to the golgi apparatus; when associated with a-226.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9918485	Dengue Virus Attachment and Entry

MSigDB gene sets: 254 (showing top): GOBP_DENDRITE_DEVELOPMENT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, AP1_01, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_BEHAVIOR, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCGCANK_UNKNOWN, GOBP_RESPONSE_TO_COCAINE, TGCACTT_MIR519C_MIR519B_MIR519A, TTCCGTT_MIR191, GOBP_ADULT_BEHAVIOR, SP3_Q3, GOZGIT_ESR1_TARGETS_DN

GO Biological Process (9): intracellular protein localization (GO:0008104), regulation of microtubule polymerization or depolymerization (GO:0031110), regulation of microtubule polymerization (GO:0031113), protein localization to microtubule (GO:0035372), positive regulation of DNA-templated transcription (GO:0045893), behavioral response to cocaine (GO:0048148), spindle assembly (GO:0051225), cell division (GO:0051301), positive regulation of dendritic spine morphogenesis (GO:0061003)

GO Molecular Function (6): microtubule binding (GO:0008017), identical protein binding (GO:0042802), protein serine/threonine kinase activator activity (GO:0043539), microtubule plus-end binding (GO:0051010), protein serine/threonine kinase binding (GO:0120283), protein binding (GO:0005515)

GO Cellular Component (13): cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), microtubule cytoskeleton (GO:0015630), midbody (GO:0030496), microtubule plus-end (GO:0035371), perinuclear region of cytoplasm (GO:0048471), spindle midzone (GO:0051233), neuron to neuron synapse (GO:0098984), mitotic spindle astral microtubule end (GO:1905721), cytoskeleton (GO:0005856), microtubule (GO:0005874), cytoplasmic microtubule (GO:0005881), microtubule end (GO:1990752)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
microtubule cytoskeleton	2
microtubule end	2
cytoplasm	2
microtubule	2
macromolecule localization	1
microtubule polymerization or depolymerization	1
regulation of microtubule cytoskeleton organization	1
regulation of microtubule polymerization or depolymerization	1
regulation of protein polymerization	1
microtubule polymerization	1
regulation of supramolecular fiber organization	1
protein localization to microtubule cytoskeleton	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
adult behavior	1
response to cocaine	1
spindle organization	1
chromosome segregation	1
membraneless organelle assembly	1
cellular process	1
positive regulation of neuron projection development	1
positive regulation of dendrite morphogenesis	1
dendritic spine morphogenesis	1
positive regulation of dendritic spine development	1
regulation of dendritic spine morphogenesis	1
tubulin binding	1
protein binding	1
protein serine/threonine kinase activity	1
protein kinase activator activity	1
microtubule binding	1
protein kinase binding	1
binding	1
intracellular anatomical structure	1
cytoskeleton	1
spindle	1
synapse	1
mitotic spindle astral microtubule	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2484 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAPRE3	DBN1	Q16643	979
MAPRE3	SRCIN1	Q9C0H9	908
MAPRE3	SPEF1	Q9Y4P9	868
MAPRE3	CLIP1	P30622	837
MAPRE3	DCTN1	Q14203	816
MAPRE3	STIM1	Q13586	810
MAPRE3	KHK	P50053	769
MAPRE3	ANK3	Q12955	757
MAPRE3	HCLS1	P14317	742
MAPRE3	CTTN	Q14247	740
MAPRE3	APC2	O95996	735
MAPRE3	DLG4	P78352	699
MAPRE3	CKAP5	Q14008	690
MAPRE3	DCTN2	Q13561	666
MAPRE3	CLASP2	O75122	643

IntAct

270 interactions, top by confidence:

A	B	Type	Score
MAPRE3	MAPRE1	psi-mi:“MI:0915”(physical association)	0.960
MAPRE1	MAPRE3	psi-mi:“MI:0915”(physical association)	0.960
MAPRE1	MAPRE3	psi-mi:“MI:2364”(proximity)	0.960
MAPRE3	MAPRE2	psi-mi:“MI:0915”(physical association)	0.870
MAPRE2	MAPRE3	psi-mi:“MI:0915”(physical association)	0.870
MAPRE1	CLASP2	psi-mi:“MI:0914”(association)	0.850
TROAP	MAPRE3	psi-mi:“MI:0915”(physical association)	0.830
MAPRE3	LMO2	psi-mi:“MI:0915”(physical association)	0.740
LMO2	MAPRE3	psi-mi:“MI:0915”(physical association)	0.740
MAPRE3	MAPRE3	psi-mi:“MI:0915”(physical association)	0.740
MAPRE3	SDCBP	psi-mi:“MI:0915”(physical association)	0.720
MAPRE3	TXN2	psi-mi:“MI:0915”(physical association)	0.720
SDCBP	MAPRE3	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (294): MAPRE3 (Two-hybrid), MAPRE3 (Two-hybrid), MAPRE3 (Two-hybrid), MAPRE3 (Two-hybrid), MAPRE3 (Two-hybrid), MAPRE3 (Two-hybrid), MAPRE3 (Two-hybrid), TXN2 (Two-hybrid), MAPRE3 (Reconstituted Complex), MAPRE3 (Affinity Capture-MS), MAPRE3 (Affinity Capture-MS), MAPRE3 (Two-hybrid), MAPRE3 (Two-hybrid), MAPRE3 (Co-fractionation), MAPRE3 (Co-fractionation)

ESM2 similar proteins: A0JN27, A2ADY9, D3K5L7, D3Z7P3, E2R222, G3MWR8, O70133, O94925, O94973, P13264, P18484, P97834, Q06AT3, Q08211, Q0VCK5, Q13042, Q13098, Q15645, Q28141, Q28F89, Q2KI56, Q2TBV5, Q3MHJ2, Q3UA06, Q497D6, Q5NVP9, Q5R874, Q5RBN9, Q5TDH0, Q5XHZ9, Q5XIT1, Q5ZJB7, Q6AYU1, Q6NRB5, Q6NRT5, Q6PER3, Q6TH22, Q7RTP6, Q7ZYA7, Q86TJ2

Diamond homologs: E2RU10, P40013, Q15555, Q15691, Q3B8Q0, Q3SZP2, Q3ZBD9, Q5R4I6, Q5R7Z5, Q5XIT1, Q5ZKK1, Q5ZLC7, Q61166, Q66HR2, Q66T82, Q6P848, Q6PER3, Q6V291, Q7XJ60, Q7ZXP1, Q8R001, Q8WQ86, Q9FGQ6, Q9FJJ5, Q9UPY8, Q10113

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AURKA	up-regulates	MAPRE3	phosphorylation
AURKB	up-regulates	MAPRE3	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 64 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
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	5	18.2×	8e-04
EML4 and NUDC in mitotic spindle formation	5	14.5×	2e-03
Resolution of Sister Chromatid Cohesion	5	13.5×	2e-03
Separation of Sister Chromatids	7	13.3×	2e-04
RHO GTPases Activate Formins	5	12.1×	2e-03
Mitotic Prometaphase	5	10.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of microtubule polymerization or depolymerization	5	103.3×	3e-07
positive regulation of microtubule polymerization	5	66.1×	2e-06
cell division	9	8.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1191 predictions. Top by Δscore:

Variant	Effect	Δscore
2:26970803:G:GG	donor_gain	1.0000
2:27022207:TCCAG:T	acceptor_loss	1.0000
2:27022208:CCAG:C	acceptor_loss	1.0000
2:27022210:A:AC	acceptor_loss	1.0000
2:27022210:A:AG	acceptor_gain	1.0000
2:27022210:AGCT:A	acceptor_gain	1.0000
2:27022210:AGCTG:A	acceptor_gain	1.0000
2:27022211:G:GG	acceptor_gain	1.0000
2:27022211:GC:G	acceptor_gain	1.0000
2:27022211:GCT:G	acceptor_gain	1.0000
2:27022211:GCTG:G	acceptor_gain	1.0000
2:27022211:GCTGG:G	acceptor_gain	1.0000
2:27023327:CACA:C	acceptor_loss	1.0000
2:27023329:CA:C	acceptor_loss	1.0000
2:27023330:A:AG	acceptor_gain	1.0000
2:27023330:A:AT	acceptor_loss	1.0000
2:27023330:AG:A	acceptor_gain	1.0000
2:27023330:AGG:A	acceptor_gain	1.0000
2:27023331:G:GG	acceptor_gain	1.0000
2:27023331:GG:G	acceptor_gain	1.0000
2:27023331:GGG:G	acceptor_gain	1.0000
2:27023463:A:G	donor_gain	1.0000
2:27023478:G:GG	donor_gain	1.0000
2:27024091:TTCA:T	acceptor_loss	1.0000
2:27024092:TCA:T	acceptor_loss	1.0000
2:27024093:CAGAT:C	acceptor_loss	1.0000
2:27024094:A:AC	acceptor_loss	1.0000
2:27024095:GATC:G	acceptor_gain	1.0000
2:27024294:GCAG:G	donor_gain	1.0000
2:27024299:T:G	donor_loss	1.0000

AlphaMissense

1885 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27022267:C:A	R17S	1.000
2:27022285:T:A	W23R	1.000
2:27022285:T:C	W23R	1.000
2:27022339:G:T	G41W	1.000
2:27024129:T:C	F101L	1.000
2:27024131:C:A	F101L	1.000
2:27024131:C:G	F101L	1.000
2:27024140:T:A	N104K	1.000
2:27024140:T:G	N104K	1.000
2:27024156:T:A	W110R	1.000
2:27024156:T:C	W110R	1.000
2:27025911:T:C	L219P	1.000
2:27025922:C:A	R223S	1.000
2:27025923:G:C	R223P	1.000
2:27025928:T:C	F225L	1.000
2:27025929:T:C	F225S	1.000
2:27025930:C:A	F225L	1.000
2:27025930:C:G	F225L	1.000
2:27025931:T:G	Y226D	1.000
2:27025934:T:C	F227L	1.000
2:27025936:C:A	F227L	1.000
2:27025936:C:G	F227L	1.000
2:27025940:A:G	K229E	1.000
2:27025942:A:C	K229N	1.000
2:27025942:A:T	K229N	1.000
2:27025944:T:A	L230H	1.000
2:27025944:T:C	L230P	1.000
2:27025947:G:C	R231P	1.000
2:27026019:T:A	L255H	1.000
2:27026019:T:C	L255P	1.000

dbSNP variants (sampled 300 via entrez): RS1000052599 (2:26973337 A>G), RS1000072175 (2:26991802 G>A), RS1000085694 (2:26985023 A>G), RS1000172226 (2:26972986 C>G), RS1000210276 (2:27014599 C>A), RS1000247433 (2:26973595 C>T), RS1000266984 (2:27013324 C>T), RS1000271138 (2:26980459 C>T), RS1000481438 (2:27006634 A>G), RS1000510114 (2:26992818 C>T), RS1000552095 (2:27016410 A>G), RS1000602772 (2:27011292 C>T), RS1000604479 (2:27010435 A>T), RS1000651876 (2:27010907 A>C), RS1000675816 (2:27004068 C>T)

Disease associations

OMIM: gene MIM:605788 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST003264_95	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST008745_93	Estimated glomerular filtration rate in non-diabetics	4.000000e-08
GCST010697_14	Cortical surface area (min-P)	2.000000e-09
GCST010698_75	Subcortical volume (min-P)	2.000000e-13
GCST010699_41	Brain morphology (min-P)	2.000000e-08
GCST010700_38	Cortical thickness (MOSTest)	3.000000e-08
GCST010701_56	Cortical surface area (MOSTest)	4.000000e-16
GCST010702_20	Subcortical volume (MOSTest)	2.000000e-64
GCST010703_76	Brain morphology (MOSTest)	1.000000e-16
GCST90002389_105	Lymphocyte percentage of white cells	1.000000e-16
GCST90002398_522	Neutrophil count	2.000000e-20
GCST90002399_136	Neutrophil percentage of white cells	1.000000e-17
GCST90010427_4	Left–right brain asymmetry	1.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, increases expression	2
Air Pollutants	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	increases methylation	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, increases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
deguelin	decreases expression	1
pyrimidifen	decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
trans-10,cis-12-conjugated linoleic acid	increases expression	1
abrine	increases expression	1
pyrachlostrobin	decreases expression	1
olesoxime	decreases localization, decreases reaction	1
bisphenol S	increases expression	1
picoxystrobin	decreases expression	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_1D61	HeLa Kyoto EGFP-EB3	Cancer cell line	Female

Clinical trials (associated diseases)

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