EML5

Summary

EML5 (EMAP like 5, HGNC:18197) is a protein-coding gene on chromosome 14q31.3, encoding Echinoderm microtubule-associated protein-like 5 (Q05BV3). May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.

Predicted to enable microtubule binding activity. Located in extracellular exosome.

Source: NCBI Gene 161436 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 259 total
• MANE Select transcript: NM_183387

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18197
Approved symbol	EML5
Name	EMAP like 5
Location	14q31.3
Locus type	gene with protein product
Status	Approved
Aliases	HuEMAP-2, EMAP-2, FAP16
Ensembl gene	ENSG00000165521
Ensembl biotype	protein_coding
OMIM	618119
Entrez	161436

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000380664, ENST00000553281, ENST00000553320, ENST00000553526, ENST00000553962, ENST00000553973, ENST00000554922, ENST00000555823, ENST00000971666

RefSeq mRNA: 3 — MANE Select: NM_183387 NM_001385116, NM_001411033, NM_183387

CCDS: CCDS45148, CCDS91916

Canonical transcript exons

ENST00000554922 — 44 exons

Exon	Start	End
ENSE00001379366	88688271	88688473
ENSE00001632793	88649912	88649926
ENSE00001634304	88714939	88715195
ENSE00001657538	88712271	88712483
ENSE00001664834	88740387	88740572
ENSE00001666652	88726541	88726678
ENSE00001695748	88744023	88744091
ENSE00001716802	88746185	88746283
ENSE00001728392	88646947	88646955
ENSE00001731792	88738879	88739014
ENSE00001747834	88754512	88754671
ENSE00001780407	88706259	88706426
ENSE00001788561	88736364	88736565
ENSE00001805402	88792307	88792953
ENSE00002529343	88612431	88615854
ENSE00003458867	88658187	88658388
ENSE00003477781	88624970	88625127
ENSE00003491990	88657376	88657502
ENSE00003500172	88618228	88618331
ENSE00003512607	88661654	88661830
ENSE00003518264	88687216	88687327
ENSE00003525777	88627646	88627819
ENSE00003548234	88638809	88638907
ENSE00003552133	88681890	88682031
ENSE00003554870	88704860	88704978
ENSE00003564013	88694307	88694407
ENSE00003570571	88705482	88705588
ENSE00003575678	88620754	88620926
ENSE00003576453	88663031	88663119
ENSE00003585250	88685015	88685142
ENSE00003609094	88626838	88627046
ENSE00003614493	88695361	88695454
ENSE00003627113	88696847	88696952
ENSE00003627717	88616142	88616242
ENSE00003628456	88621113	88621301
ENSE00003633167	88618650	88618812
ENSE00003651075	88642893	88643022
ENSE00003655114	88702446	88702632
ENSE00003657997	88634469	88634489
ENSE00003666127	88644433	88644511
ENSE00003666571	88664493	88664624
ENSE00003672305	88622604	88622718
ENSE00003681552	88665337	88665489
ENSE00003684900	88616726	88616879

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 80.47.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3038 / max 98.3933, expressed in 453 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144424	0.4370	201
144421	0.3701	179
144422	0.1942	93
144418	0.1398	51
144423	0.0905	38
144420	0.0441	15
144419	0.0281	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.47	gold quality
left ovary	UBERON:0002119	79.51	gold quality
secondary oocyte	CL:0000655	79.39	gold quality
islet of Langerhans	UBERON:0000006	78.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	76.87	gold quality
ovary	UBERON:0000992	76.67	gold quality
cerebellar cortex	UBERON:0002129	76.40	gold quality
cerebellar hemisphere	UBERON:0002245	76.33	gold quality
cerebellum	UBERON:0002037	75.45	gold quality
bone marrow cell	CL:0002092	75.24	gold quality
right ovary	UBERON:0002118	74.56	gold quality
adrenal tissue	UBERON:0018303	73.59	gold quality
stromal cell of endometrium	CL:0002255	71.65	gold quality
cortical plate	UBERON:0005343	71.03	gold quality
oviduct epithelium	UBERON:0004804	70.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	70.62	gold quality
pancreas	UBERON:0001264	69.90	gold quality
ventricular zone	UBERON:0003053	69.69	gold quality
right adrenal gland	UBERON:0001233	69.13	gold quality
ganglionic eminence	UBERON:0004023	68.90	gold quality
right adrenal gland cortex	UBERON:0035827	68.89	gold quality
adrenal gland	UBERON:0002369	67.92	gold quality
left adrenal gland	UBERON:0001234	67.85	gold quality
left adrenal gland cortex	UBERON:0035825	67.18	gold quality
body of pancreas	UBERON:0001150	66.54	gold quality
mucosa of stomach	UBERON:0001199	66.44	gold quality
prefrontal cortex	UBERON:0000451	65.99	gold quality
adenohypophysis	UBERON:0002196	65.86	gold quality
adrenal cortex	UBERON:0001235	65.64	gold quality
oocyte	CL:0000023	65.40	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.75

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	eml5	ENSDARG00000053517
mus_musculus	Eml5	ENSMUSG00000051166
rattus_norvegicus	Eml5	ENSRNOG00000004207

Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), EML3 (ENSG00000149499), CFAP251 (ENSG00000158023), WDR90 (ENSG00000161996), CFAP52 (ENSG00000166596), CFAP44 (ENSG00000206530), EML6 (ENSG00000214595)

Protein

Protein identifiers

Echinoderm microtubule-associated protein-like 5 — Q05BV3 (reviewed: Q05BV3)

All UniProt accessions (4): Q05BV3, H0YJ79, H0YJS1, H0YJX1

UniProt curated annotations — full annotation on UniProt →

Function. May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.

Subcellular location. Cytoplasm. Cytoskeleton.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the WD repeat EMAP family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q05BV3-1	1	yes
Q05BV3-2	2
Q05BV3-4	4
Q05BV3-5	5

RefSeq proteins (3): NP_001372045, NP_001397962, NP_899243* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR005108	HELP	Conserved_site
IPR011041	Quinoprot_gluc/sorb_DH_b-prop	Homologous_superfamily
IPR011047	Quinoprotein_ADH-like_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR050630	WD_repeat_EMAP	Family
IPR055439	Beta-prop_EML_1st	Domain
IPR055442	Beta-prop_EML-like_2nd	Domain

Pfam: PF03451, PF23409, PF23414

UniProt features (52 total): repeat 29, sequence conflict 10, splice variant 5, region of interest 3, compositionally biased region 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q05BV3-F1	87.18	0.61

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 139 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GCANCTGNY_MYOD_Q6, MARTINEZ_RB1_TARGETS_UP, MARTINEZ_RB1_AND_TP53_TARGETS_UP, chr14q31, GOCC_CILIUM, GOMF_CYTOSKELETAL_PROTEIN_BINDING, CACTGCC_MIR34A_MIR34C_MIR449, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, EGR_Q6, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_BALBC_MOUSE_DN, GSE14699_NAIVE_VS_DELETIONAL_TOLERANCE_CD8_TCELL_UP, GSE14699_NAIVE_VS_ACT_CD8_TCELL_DN

GO Biological Process (0):

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (5): microtubule (GO:0005874), cilium (GO:0005929), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
tubulin binding	1
binding	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
extracellular vesicle	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1517 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EML5	ZNF500	O60304	526
EML5	PTPN21	Q16825	521
EML5	TTC8	Q8TAM2	468
EML5	SPATA7	Q9P0W8	449
EML5	TOP3B	O95985	447
EML5	ZC3H14	Q6PJT7	446
EML5	CRTC3	Q6UUV7	429
EML5	ELAVL2	Q12926	409
EML5	SLC6A11	P48066	398
EML5	RGS7	P49802	398
EML5	PDE4D	Q08499	387
EML5	TTC7B	Q86TV6	380
EML5	CTSB	P07858	352
EML5	TYW1B	Q6NUM6	350
EML5	AGAP1	Q9UPQ3	348

IntAct

15 interactions, top by confidence:

A	B	Type	Score
DNAJC7	PLD2	psi-mi:“MI:0914”(association)	0.640
CRYBA4	RBP4	psi-mi:“MI:0914”(association)	0.530
EML5	H3-4	psi-mi:“MI:0915”(physical association)	0.400
EML5	RPL27A	psi-mi:“MI:0915”(physical association)	0.400
EML5	HNRNPD	psi-mi:“MI:0915”(physical association)	0.400
EML5	STT3B	psi-mi:“MI:0915”(physical association)	0.400
PPP4R1L	IFT56	psi-mi:“MI:0914”(association)	0.350
DNAJA2	DENND11	psi-mi:“MI:0914”(association)	0.350
BTRC	ACOT7	psi-mi:“MI:0914”(association)	0.350
TTC9C	PLD2	psi-mi:“MI:0914”(association)	0.350
BTRC	BHLHE40	psi-mi:“MI:0914”(association)	0.350
	TTC8	psi-mi:“MI:0914”(association)	0.350
MST1R	SHTN1	psi-mi:“MI:2364”(proximity)	0.270
CFAP161	EML5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Proximity Label-MS), HNRNPD (Proximity Label-MS), STT3B (Proximity Label-MS), HIST3H3 (Proximity Label-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS), EML5 (Affinity Capture-MS)

ESM2 similar proteins: A2RRU3, A7MB12, A8XSW2, A8XYW9, G5ECZ4, G5EFW7, O13282, O14053, O43071, O75529, O94365, P25635, P38328, P40968, P42000, P49846, P87177, P91341, Q04199, Q04305, Q05946, Q05BV3, Q12220, Q15269, Q20059, Q3MKM6, Q5F3D7, Q5REE0, Q5RFQ3, Q5XGE2, Q6ED65, Q7ZW33, Q7ZXZ2, Q8BHB4, Q8BQM8, Q8BU03, Q8C7V3, Q8SQS4, Q8TED0, Q8VYZ5

Diamond homologs: O00423, O95834, Q05BC3, Q05BV3, Q26613, Q2TAF3, Q32P44, Q3UMY5, Q4V8C3, Q5SQM0, Q6DIP5, Q6ED65, Q6P6T4, Q6ZMW3, Q7TNG5, Q8BQM8, Q8VC03, Q9HC35, Q9N9X3, Q9VUI3, Q9Y1C1, A7RWD2, A8XL02, B0W517, B3N534, B4GT01, B4KKN1, B4LS78, B4MU54, O22466, O22467, O22468, O22469, O22607, O93377, P43254, P90916, P93471, Q09028, Q10G81

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	224
Likely benign	6
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

7097 predictions. Top by Δscore:

Variant	Effect	Δscore
14:88615707:C:CA	donor_gain	1.0000
14:88615731:C:CT	donor_gain	1.0000
14:88616724:A:AC	donor_gain	1.0000
14:88616725:C:CC	donor_gain	1.0000
14:88616725:CAA:C	donor_gain	1.0000
14:88616725:CAAA:C	donor_gain	1.0000
14:88616725:CAAAT:C	donor_gain	1.0000
14:88616760:A:C	donor_gain	1.0000
14:88616880:C:CC	acceptor_gain	1.0000
14:88618341:C:CT	acceptor_gain	1.0000
14:88618342:A:T	acceptor_gain	1.0000
14:88618345:T:C	acceptor_gain	1.0000
14:88618345:T:TC	acceptor_gain	1.0000
14:88618644:CTGTA:C	donor_loss	1.0000
14:88618645:TGTAC:T	donor_loss	1.0000
14:88618648:A:T	donor_loss	1.0000
14:88618649:C:CA	donor_loss	1.0000
14:88618808:TAAAT:T	acceptor_gain	1.0000
14:88618812:TCTG:T	acceptor_loss	1.0000
14:88618813:C:CC	acceptor_gain	1.0000
14:88618813:CTGA:C	acceptor_loss	1.0000
14:88620212:T:C	donor_gain	1.0000
14:88620924:CTT:C	acceptor_gain	1.0000
14:88620925:TT:T	acceptor_gain	1.0000
14:88620926:TC:T	acceptor_loss	1.0000
14:88620927:C:CC	acceptor_gain	1.0000
14:88620927:C:T	acceptor_loss	1.0000
14:88620928:T:C	acceptor_loss	1.0000
14:88620930:CATT:C	acceptor_gain	1.0000
14:88620931:A:AC	acceptor_gain	1.0000

AlphaMissense

13024 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:88616162:A:C	S1951R	1.000
14:88616162:A:T	S1951R	1.000
14:88616164:T:G	S1951R	1.000
14:88622690:A:G	W1635R	1.000
14:88622690:A:T	W1635R	1.000
14:88625082:A:G	W1588R	1.000
14:88625082:A:T	W1588R	1.000
14:88625090:A:T	V1585D	1.000
14:88664505:A:G	W1133R	1.000
14:88664505:A:T	W1133R	1.000
14:88681941:A:G	W1025R	1.000
14:88681941:A:T	W1025R	1.000
14:88687288:A:G	W928R	1.000
14:88687288:A:T	W928R	1.000
14:88696925:A:G	W756R	1.000
14:88696925:A:T	W756R	1.000
14:88706313:A:G	W591R	1.000
14:88706313:A:T	W591R	1.000
14:88726550:A:G	L393P	1.000
14:88726674:A:G	W352R	1.000
14:88726674:A:T	W352R	1.000
14:88736367:A:T	V349D	1.000
14:88736376:T:A	D346V	1.000
14:88736377:C:G	D346H	1.000
14:88736549:A:C	S288R	1.000
14:88736549:A:T	S288R	1.000
14:88736551:T:G	S288R	1.000
14:88738942:A:G	W262R	1.000
14:88738942:A:T	W262R	1.000
14:88738956:C:T	G257D	1.000

dbSNP variants (sampled 300 via entrez): RS1000016786 (14:88625207 G>A,T), RS1000046620 (14:88714241 C>A), RS1000050784 (14:88641128 C>A,G,T), RS1000052637 (14:88757822 T>C), RS1000089220 (14:88617697 G>C,T), RS1000092923 (14:88759634 T>C,G), RS1000099366 (14:88715182 C>G,T), RS1000106323 (14:88647499 C>A), RS1000113791 (14:88780725 G>A), RS1000165446 (14:88751481 A>G), RS1000165723 (14:88663776 C>T), RS1000189224 (14:88794895 G>C), RS1000196214 (14:88778110 G>T), RS1000201425 (14:88711309 T>A,C), RS1000213692 (14:88755865 A>C)

Disease associations

OMIM: gene MIM:618119 | 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

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, decreases expression, affects cotreatment	2
sodium arsenite	increases expression	2
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
tanespimycin	affects cotreatment, increases expression	1
5-(2,4-dihydroxy-5-isopropylphenyl)-4-(4-morpholin-4-ylmethylphenyl)isoxazole-3-carboxylic acid ethylamide	increases expression	1
STA 9090	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
VER 155008	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Thimerosal	increases expression	1
Valproic Acid	increases expression	1
Vanadates	decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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