EML2

gene
On this page

Also known as EMAP2ELP70EMAP-2

Summary

EML2 (EMAP like 2, HGNC:18035) is a protein-coding gene on chromosome 19q13.32, encoding Echinoderm microtubule-associated protein-like 2 (O95834). Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules.

Enables microtubule binding activity. Involved in negative regulation of microtubule polymerization and regulation of microtubule nucleation. Located in mitotic spindle.

Source: NCBI Gene 24139 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 142 total — 1 likely-pathogenic
  • MANE Select transcript: NM_012155

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18035
Approved symbolEML2
NameEMAP like 2
Location19q13.32
Locus typegene with protein product
StatusApproved
AliasesEMAP2, ELP70, EMAP-2
Ensembl geneENSG00000125746
Ensembl biotypeprotein_coding
OMIM617494
Entrez24139

Gene structure

Transcript identifiers

Ensembl transcripts: 38 — 21 protein_coding, 9 retained_intron, 6 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000245925, ENST00000399594, ENST00000536630, ENST00000585386, ENST00000586195, ENST00000586405, ENST00000586770, ENST00000586902, ENST00000587152, ENST00000587484, ENST00000587804, ENST00000588000, ENST00000588172, ENST00000588272, ENST00000588308, ENST00000588420, ENST00000588496, ENST00000588610, ENST00000588889, ENST00000589876, ENST00000590018, ENST00000590043, ENST00000590575, ENST00000590580, ENST00000590819, ENST00000591721, ENST00000592433, ENST00000592482, ENST00000592853, ENST00000592901, ENST00000593255, ENST00000905378, ENST00000905379, ENST00000905380, ENST00000905381, ENST00000905382, ENST00000933602, ENST00000953959

RefSeq mRNA: 7 — MANE Select: NM_012155 NM_001193268, NM_001193269, NM_001352051, NM_001352052, NM_001352053, NM_001352054, NM_012155

CCDS: CCDS12670, CCDS54280, CCDS59399

Canonical transcript exons

ENST00000245925 — 19 exons

ExonStartEnd
ENSE000028056244563935745639397
ENSE000034934814561906045619191
ENSE000035035454561646145616558
ENSE000035099584561460545614700
ENSE000035407294563432245634471
ENSE000035430394561763045617697
ENSE000035526594561580245615889
ENSE000035650014560940045609788
ENSE000035916754562995145630046
ENSE000036052684563884545638873
ENSE000036100054562471945624818
ENSE000036107064563850545638634
ENSE000036156994562148345621637
ENSE000036599174561354145613671
ENSE000036907894561676545616853
ENSE000037839634562120745621332
ENSE000037858194563307045633139
ENSE000037882284563286145632971
ENSE000037916774562670545626839

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 97.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1359 / max 120.2300, expressed in 1805 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter IDTPM avgSamples expressed
18154110.88551770
1815431.2491556
1815490.7803111
1815480.6518277
1815440.5723290
1815450.4472110
1815460.4136145
1815510.3592100
1815500.265991
1815420.221968

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
C1 segment of cervical spinal cordUBERON:000646997.29gold quality
lower esophagus mucosaUBERON:003583496.17gold quality
right adrenal glandUBERON:000123396.07gold quality
mucosa of transverse colonUBERON:000499196.07gold quality
right adrenal gland cortexUBERON:003582795.93gold quality
spinal cordUBERON:000224095.82gold quality
right frontal lobeUBERON:000281095.67gold quality
skin of legUBERON:000151195.63gold quality
granulocyteCL:000009495.62gold quality
right hemisphere of cerebellumUBERON:001489095.60gold quality
left adrenal glandUBERON:000123495.56gold quality
skin of abdomenUBERON:000141695.55gold quality
cerebellar hemisphereUBERON:000224595.39gold quality
left adrenal gland cortexUBERON:003582595.39gold quality
cerebellar cortexUBERON:000212995.29gold quality
esophagus mucosaUBERON:000246995.22gold quality
hypothalamusUBERON:000189894.66gold quality
adrenal cortexUBERON:000123594.43gold quality
minor salivary glandUBERON:000183094.36gold quality
cingulate cortexUBERON:000302794.20gold quality
anterior cingulate cortexUBERON:000983594.08gold quality
cerebellumUBERON:000203793.89gold quality
Brodmann (1909) area 9UBERON:001354093.81gold quality
olfactory segment of nasal mucosaUBERON:000538693.77gold quality
putamenUBERON:000187493.76gold quality
body of pancreasUBERON:000115093.73gold quality
adrenal glandUBERON:000236993.70gold quality
amygdalaUBERON:000187693.68gold quality
right lobe of thyroid glandUBERON:000111993.32gold quality
transverse colonUBERON:000115793.31gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes5.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting EML2, 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-5582-3P99.8672.484221
HSA-MIR-3121-3P99.8271.963630
HSA-MIR-1255A99.7468.09744
HSA-MIR-1255B-5P99.7468.16741
HSA-MIR-318299.4068.152454
HSA-MIR-122B-3P99.2168.901333
HSA-MIR-21-3P99.2168.951312
HSA-MIR-4782-5P98.3569.331474
HSA-MIR-570698.3569.331463
HSA-MIR-514A-5P96.9465.49801
HSA-MIR-6839-5P96.7468.291088
HSA-MIR-378J96.4466.201020
HSA-MIR-6861-5P96.2367.19800
HSA-MIR-7108-3P94.3764.79183
HSA-MIR-187-3P81.5659.38111

Literature-anchored findings (GeneRIF, showing 3)

  • Both EMAP II and CXCR3 were essentially required for gp120-induced lung microvascular endothelial cell apoptosis. (PMID:24318111)
  • We have determined crystal structures of the coiled-coils from EML2 and EML4, which describe the structural basis of both EML self-association and oncogenic EML4-ALK activation. (PMID:25740311)
  • EML2-S constitutes a new class of proteins that recognizes and regulates the dynamics of tyrosinated microtubules. (PMID:35963242)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioeml2ENSDARG00000008808
mus_musculusEml2ENSMUSG00000040811
rattus_norvegicusEml2ENSRNOG00000030127

Paralogs (9): EML1 (ENSG00000066629), EML4 (ENSG00000143924), EML3 (ENSG00000149499), CFAP251 (ENSG00000158023), WDR90 (ENSG00000161996), EML5 (ENSG00000165521), CFAP52 (ENSG00000166596), CFAP44 (ENSG00000206530), EML6 (ENSG00000214595)

Protein

Protein identifiers

Echinoderm microtubule-associated protein-like 2O95834 (reviewed: O95834)

All UniProt accessions (18): O95834, A0A0C4DGQ7, C9JRL6, K7EII6, K7EIK7, K7EIM1, K7EIZ0, K7EJV6, K7EKG3, K7EKU5, K7EL23, K7ELB2, K7ELI8, K7EQR0, K7ERR2, K7ERR9, K7ERY9, K7ESL7

UniProt curated annotations — full annotation on UniProt →

Function. Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules.

Subunit / interactions. Homotrimer; self-association is mediated by the N-terminal coiled coil. Interacts with GRID2 and may also interact with GRID1. Interacts with EML3. Binds unpolymerized tubulins via its WD repeat region.

Subcellular location. Cytoplasm. Cytoskeleton. Spindle.

Tissue specificity. Ubiquitous.

Domain organisation. Contains a tandem atypical propeller in EMLs (TAPE) domain. The N-terminal beta-propeller is formed by canonical WD repeats; in contrast, the second beta-propeller contains one blade that is formed by discontinuous parts of the polypeptide chain.

Similarity. Belongs to the WD repeat EMAP family.

Isoforms (3)

UniProt IDNamesCanonical?
O95834-11yes
O95834-22
O95834-33

RefSeq proteins (7): NP_001180197, NP_001180198, NP_001338980, NP_001338981, NP_001338982, NP_001338983, NP_036287* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001680WD40_rptRepeat
IPR005108HELPConserved_site
IPR011047Quinoprotein_ADH-like_sfHomologous_superfamily
IPR015943WD40/YVTN_repeat-like_dom_sfHomologous_superfamily
IPR036322WD40_repeat_dom_sfHomologous_superfamily
IPR050630WD_repeat_EMAPFamily
IPR055439Beta-prop_EML_1stDomain
IPR055442Beta-prop_EML-like_2ndDomain

Pfam: PF03451, PF23409, PF23414

UniProt features (27 total): repeat 12, sequence variant 5, sequence conflict 3, splice variant 2, coiled-coil region 2, chain 1, region of interest 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
4CGBX-RAY DIFFRACTION2.15

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O95834-F195.780.94

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, CGGAARNGGCNG_UNKNOWN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, PATIL_LIVER_CANCER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, BROWNE_HCMV_INFECTION_48HR_DN

GO Biological Process (5): microtubule cytoskeleton organization (GO:0000226), visual perception (GO:0007601), sensory perception of sound (GO:0007605), regulation of microtubule nucleation (GO:0010968), negative regulation of microtubule polymerization (GO:0031115)

GO Molecular Function (3): microtubule binding (GO:0008017), tubulin binding (GO:0015631), protein binding (GO:0005515)

GO Cellular Component (7): spindle (GO:0005819), microtubule (GO:0005874), microtubule associated complex (GO:0005875), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), mitotic spindle (GO:0072686)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
microtubule cytoskeleton3
regulation of microtubule polymerization2
intracellular membraneless organelle2
cellular anatomical structure2
cytoskeleton organization1
microtubule-based process1
sensory perception of light stimulus1
sensory perception of mechanical stimulus1
microtubule nucleation1
negative regulation of microtubule polymerization or depolymerization1
negative regulation of protein polymerization1
microtubule polymerization1
negative regulation of supramolecular fiber organization1
tubulin binding1
cytoskeletal protein binding1
binding1
polymeric cytoskeletal fiber1
protein-containing complex1
intracellular anatomical structure1
spindle1

Protein interactions and networks

STRING

1820 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
EML2KLF11O14901456
EML2ARHGEF3Q9NR81393
EML2SYTL1Q8IYJ3379
EML2RHODO00212370
EML2GLDCP23378348
EML2ZNF222Q9UK12348
EML2CRMP1Q14194341
EML2HOXB1P14653322
EML2INPP1P49441311
EML2GALNT9Q9HCQ5310
EML2ZNF226Q9NYT6308
EML2APLP1P51693305
EML2RESF1Q9HCM1302
EML2ACYP2P14621302
EML2PCDH15Q96QU1297
EML2HUS1BQ8NHY5297

IntAct

21 interactions, top by confidence:

ABTypeScore
RELEML2psi-mi:“MI:0915”(physical association)0.560
EML2EXD1psi-mi:“MI:0915”(physical association)0.560
EXD1EML2psi-mi:“MI:0915”(physical association)0.560
TUBB2AEML2psi-mi:“MI:0914”(association)0.530
TUBB2BEML2psi-mi:“MI:0914”(association)0.530
TUBB3EML1psi-mi:“MI:0914”(association)0.350
TUBB8POTEFpsi-mi:“MI:0914”(association)0.350
TUBB4BPOTEFpsi-mi:“MI:0914”(association)0.350
TUBB3TUBB8Bpsi-mi:“MI:0914”(association)0.350
STX17A2ML1psi-mi:“MI:0914”(association)0.350
OR2A4A2ML1psi-mi:“MI:0914”(association)0.350
GOT1A2ML1psi-mi:“MI:0914”(association)0.350
TUBB2BPOTEFpsi-mi:“MI:0914”(association)0.350
EML1EML2psi-mi:“MI:0914”(association)0.350
NEK6EML2psi-mi:“MI:0915”(physical association)0.000

BioGRID (49): EML2 (Two-hybrid), EXD1 (Two-hybrid), EML2 (Affinity Capture-MS), EML2 (Affinity Capture-MS), EML2 (Co-fractionation), EML2 (Co-fractionation), TTC38 (Co-fractionation), EML2 (Affinity Capture-MS), EML2 (Affinity Capture-MS), EML3 (Affinity Capture-Western), EML2 (Affinity Capture-MS), EML2 (Affinity Capture-MS), EML2 (Affinity Capture-MS), EML2 (Affinity Capture-MS), EML2 (Two-hybrid)

ESM2 similar proteins: A1L112, A4IHS2, A8NZM5, B2ZZS9, O00423, O80775, O95834, P93107, P97452, Q05BC3, Q0DYP5, Q13216, Q13610, Q13685, Q15269, Q1JQD2, Q2HJ56, Q32KQ2, Q32P44, Q3SZK1, Q4V8C3, Q562C2, Q58DT8, Q5BIM8, Q5F3K4, Q5R9T6, Q5RCG7, Q5RFQ3, Q5VU92, Q5XI13, Q5ZK69, Q6DRF9, Q6P6T4, Q6PFM9, Q7TNG5, Q7YR70, Q810D6, Q8BH57, Q8BHB4, Q8BU03

Diamond homologs: A5E2R6, A7RWD2, A8IZG4, A9VDW7, B0XAF3, B3MC74, B3NQR5, B3RNR8, B4GDM7, B4HRQ6, B4JW81, B4KTK4, B4LJT7, B4MY77, B4P7Q3, B4QFZ8, B5X212, B5X9P2, B6K1G6, B7QKS1, O76071, O80990, O95834, Q17GR9, Q28DW0, Q292E8, Q32PJ6, Q4PCB8, Q55DA2, Q5AG86, Q5M7T1, Q6BIR9, Q6P0D9, Q6P6T4, Q7K1Y4, Q7PS24, Q99KN2, Q9SRI1, Q9UT57, Q9VUI3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 15 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
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane6296.6×4e-13
Transport of connexons to the plasma membrane6296.6×4e-13
Gap junction trafficking and regulation6259.6×6e-13
Gap junction trafficking6259.6×6e-13
Activation of AMPK downstream of NMDARs6207.6×2e-12
RHO GTPases activate IQGAPs6188.8×3e-12
Sealing of the nuclear envelope (NE) by ESCRT-III6188.8×3e-12
HCMV Infection6178.0×3e-12

GO biological processes:

GO termPartnersFoldFDR
microtubule cytoskeleton organization756.6×1e-09
mitotic cell cycle653.5×3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance117
Likely benign4
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
148766GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1Likely pathogenic

SpliceAI

3262 predictions. Top by Δscore:

VariantEffectΔscore
19:45613539:A:ACdonor_gain1.0000
19:45613540:C:CAdonor_gain1.0000
19:45613540:CT:Cdonor_gain1.0000
19:45613540:CTCG:Cdonor_gain1.0000
19:45613669:TCC:Tacceptor_gain1.0000
19:45613669:TCCC:Tacceptor_loss1.0000
19:45613670:CC:Cacceptor_gain1.0000
19:45613670:CCC:Cacceptor_gain1.0000
19:45613670:CCCTG:Cacceptor_loss1.0000
19:45613671:CC:Cacceptor_gain1.0000
19:45613672:C:CCacceptor_gain1.0000
19:45613672:CT:Cacceptor_loss1.0000
19:45613673:T:Aacceptor_loss1.0000
19:45614634:G:Cdonor_gain1.0000
19:45615800:A:ACdonor_gain1.0000
19:45615801:C:CCdonor_gain1.0000
19:45615801:CAGT:Cdonor_gain1.0000
19:45615801:CAGTA:Cdonor_gain1.0000
19:45615885:TGGCC:Tacceptor_gain1.0000
19:45615886:GGCC:Gacceptor_gain1.0000
19:45615887:GCC:Gacceptor_gain1.0000
19:45615888:CC:Cacceptor_gain1.0000
19:45615888:CCC:Cacceptor_gain1.0000
19:45615889:CC:Cacceptor_gain1.0000
19:45615890:C:CCacceptor_gain1.0000
19:45615890:CTGCG:Cacceptor_loss1.0000
19:45616457:TCACC:Tdonor_loss1.0000
19:45616459:A:ACdonor_gain1.0000
19:45616460:C:CAdonor_loss1.0000
19:45616460:C:CCdonor_gain1.0000

AlphaMissense

4226 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:45615825:G:AS525F1.000
19:45624728:A:GW278R1.000
19:45624728:A:TW278R1.000
19:45632871:A:GF167S1.000
19:45632945:C:AW142C1.000
19:45632945:C:GW142C1.000
19:45632947:A:GW142R1.000
19:45632947:A:TW142R1.000
19:45633101:C:TG123E1.000
19:45633107:G:TA121D1.000
19:45609677:A:GW646R0.999
19:45609677:A:TW646R0.999
19:45609695:C:GD640H0.999
19:45613587:T:AD593V0.999
19:45613588:C:GD593H0.999
19:45613666:A:GW567R0.999
19:45613666:A:TW567R0.999
19:45615826:A:GS525P0.999
19:45615875:A:CF508L0.999
19:45615875:A:TF508L0.999
19:45615877:A:GF508L0.999
19:45615878:A:CS507R0.999
19:45615878:A:TS507R0.999
19:45615880:T:GS507R0.999
19:45621269:C:AG354W0.999
19:45624726:C:AW278C0.999
19:45624726:C:GW278C0.999
19:45624754:C:TG269E0.999
19:45624755:C:AG269W0.999
19:45624757:G:TT268K0.999

dbSNP variants (sampled 300 via entrez): RS1000027988 (19:45646795 TTG>T), RS1000190817 (19:45625385 C>G,T), RS1000320840 (19:45619343 C>A,T), RS1000433873 (19:45624754 C>G), RS1000447785 (19:45624994 G>A,C), RS1000623644 (19:45637393 G>T), RS1000652496 (19:45630831 T>C), RS1000690543 (19:45637001 C>T), RS1000748007 (19:45618360 C>G), RS1000888158 (19:45614444 C>G,T), RS1000933403 (19:45642574 G>C), RS1001065477 (19:45643202 A>G), RS1001139067 (19:45640129 T>A,C), RS1001211057 (19:45639879 A>G), RS1001274255 (19:45612205 C>T)

Disease associations

OMIM: gene MIM:617494 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

StudyTraitp-value
GCST001521_31Subcutaneous adipose tissue2.000000e-06
GCST001521_39Subcutaneous adipose tissue1.000000e-06
GCST006001_5Hemoglobin A1c levels5.000000e-09
GCST010118_75Type 2 diabetes1.000000e-32
GCST010136_35Fruit consumption1.000000e-11

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004541HbA1c measurement
EFO:0008111diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Arsenicaffects expression, decreases methylation, increases abundance, increases expression3
sodium arseniteincreases abundance, increases expression2
Leadaffects expression, decreases expression2
Smokedecreases expression2
aristolochic acid Iincreases expression1
FR900359affects phosphorylation1
bisphenol Fincreases expression1
bisphenol Adecreases expression1
pyrogallol 1,3-dimethyl etheraffects cotreatment, affects localization, decreases expression1
decabromobiphenyl etherdecreases expression1
beta-lapachoneincreases expression1
arseniteincreases methylation1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
tetrabromobisphenol Adecreases expression1
manganese chlorideincreases expression1
di-n-butylphosphoric acidaffects expression1
monomethylarsonous acidincreases expression1
ICG 001increases expression1
bisphenol Bincreases expression1
abrineincreases expression1
2,2’,4,4’-tetrabromodiphenyl etherdecreases expression1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)increases expression1
pentabrominated diphenyl ether 100decreases expression1
hexabrominated diphenyl ether 153decreases expression1
jinfukangaffects cotreatment, increases expression1
bisphenol AFincreases expression1
Irinotecanaffects cotreatment, increases response to substance1
Sunitinibdecreases expression1
Arsenic Trioxideincreases expression1
Air Pollutantsincreases abundance, increases 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.