EMB

Summary

EMB (embigin, HGNC:30465) is a protein-coding gene on chromosome 5q11.1, encoding Embigin (Q6PCB8). Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions.

This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1.

Source: NCBI Gene 133418 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 63 total — 1 likely-pathogenic
• MANE Select transcript: NM_198449

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30465
Approved symbol	EMB
Name	embigin
Location	5q11.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC71745, GP70
Ensembl gene	ENSG00000170571
Ensembl biotype	protein_coding
OMIM	615669
Entrez	133418

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000303221, ENST00000505896, ENST00000506190, ENST00000508934, ENST00000514111, ENST00000872546, ENST00000948161

RefSeq mRNA: 1 — MANE Select: NM_198449 NM_198449

CCDS: CCDS3953

Canonical transcript exons

ENST00000303221 — 9 exons

Exon	Start	End
ENSE00001305813	50441040	50441288
ENSE00001365959	50396192	50399290
ENSE00003504018	50411197	50411383
ENSE00003513442	50428144	50428227
ENSE00003590786	50410877	50410965
ENSE00003625321	50405725	50405852
ENSE00003636177	50403178	50403454
ENSE00003656125	50402286	50402319
ENSE00003676756	50399859	50399913

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 98.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0128 / max 743.7173, expressed in 1211 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61605	9.4397	992
61606	4.0924	1029
61604	0.5225	215
61598	0.2264	109
61603	0.2167	104
61599	0.1934	79
61607	0.1442	53
61610	0.1296	16
61609	0.0333	8
61608	0.0146	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	98.24	gold quality
monocyte	CL:0000576	96.88	gold quality
leukocyte	CL:0000738	96.81	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.23	gold quality
granulocyte	CL:0000094	93.89	gold quality
vermiform appendix	UBERON:0001154	93.43	gold quality
colonic epithelium	UBERON:0000397	93.29	gold quality
bone marrow	UBERON:0002371	92.07	gold quality
calcaneal tendon	UBERON:0003701	91.87	gold quality
lymph node	UBERON:0000029	88.66	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.49	gold quality
left adrenal gland	UBERON:0001234	88.48	gold quality
spleen	UBERON:0002106	88.23	gold quality
left adrenal gland cortex	UBERON:0035825	88.01	gold quality
right adrenal gland	UBERON:0001233	87.99	gold quality
omental fat pad	UBERON:0010414	87.28	gold quality
peritoneum	UBERON:0002358	87.16	gold quality
right adrenal gland cortex	UBERON:0035827	86.96	gold quality
skin of abdomen	UBERON:0001416	86.83	gold quality
skin of leg	UBERON:0001511	86.22	gold quality
blood	UBERON:0000178	86.00	gold quality
rectum	UBERON:0001052	85.96	gold quality
small intestine	UBERON:0002108	85.89	gold quality
gall bladder	UBERON:0002110	85.89	gold quality
right lobe of thyroid gland	UBERON:0001119	85.82	gold quality
adrenal gland	UBERON:0002369	85.79	gold quality
left lobe of thyroid gland	UBERON:0001120	85.48	gold quality
islet of Langerhans	UBERON:0000006	85.09	gold quality
adipose tissue of abdominal region	UBERON:0007808	84.74	gold quality
adrenal cortex	UBERON:0001235	84.50	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	20.09
E-ANND-3	yes	11.18
E-MTAB-9801	yes	8.71
E-MTAB-7249	no	75.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

184 targeting EMB, 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-9-5P	100.00	72.28	2361
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379

Literature-anchored findings (GeneRIF, showing 6)

• Data show that Gp70 (embigin) was negative in all normal, adjacent non-neoplastic and PIN lesions and only a very small percentage of cases. (PMID:21787388)
• Study reports elevated expression of Embigin in pancreatic ductal adenocarcinoma and shows its novel functions in regulating cell proliferation, migration, and invasion. (PMID:25773908)
• embigin is regulated by HOXC8 and its loss plays an important role in the progression of breast tumors (PMID:26090721)
• Reports the original cloning of the mouse embigin gene, referred to as gp70, from embryonal carcinoma cells. (PMID:2963822)
• This study analyzed the direct interaction between CAIV and the two Monocarboxylate transporters (MCTs) chaperones basigin (CD147) and embigin (GP70). (PMID:30446621)
• Rare and common variants analysis of the EMB gene in patients with schizophrenia. (PMID:32213169)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	emb	ENSDARG00000059485
mus_musculus	Emb	ENSMUSG00000021728
rattus_norvegicus	Emb	ENSRNOG00000060329
drosophila_melanogaster	Bsg	FBGN0261822
caenorhabditis_elegans		WBGENE00021305

Paralogs (3): VSTM2L (ENSG00000132821), NPTN (ENSG00000156642), BSG (ENSG00000172270)

Protein

Protein identifiers

Embigin — Q6PCB8 (reviewed: Q6PCB8)

All UniProt accessions (2): Q6PCB8, D6RDX7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1, SLC16A6 and SLC16A7 to the cell membrane.

Subunit / interactions. Interacts with SLC16A1, SLC16A6 and SLC16A7.

Subcellular location. Cell membrane. Synapse.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6PCB8-1	1	yes
Q6PCB8-2	2

RefSeq proteins (1): NP_940851* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF07679

UniProt features (22 total): glycosylation site 9, disulfide bond 2, topological domain 2, domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9L0C	ELECTRON MICROSCOPY	3.2
7YR5	ELECTRON MICROSCOPY	3.63
9L0B	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PCB8-F1	78.13	0.57

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): 309

Disulfide bonds (2): 88–142, 180–237

Glycosylation sites (9): 54, 61, 75, 85, 100, 189, 196, 213, 218

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-433692	Proton-coupled monocarboxylate transport

MSigDB gene sets: 291 (showing top): GOBP_NEURON_RECOGNITION, GOBP_NEUROGENESIS, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_CELL_CELL_ADHESION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, WANG_RESPONSE_TO_BEXAROTENE_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, INGRAM_SHH_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_ORGANIC_ANION_TRANSPORT, GARY_CD5_TARGETS_DN, MORI_PRE_BI_LYMPHOCYTE_UP, LEI_HOXC8_TARGETS_UP, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT

GO Biological Process (5): homophilic cell-cell adhesion (GO:0007156), axon guidance (GO:0007411), plasma membrane lactate transport (GO:0035879), dendrite self-avoidance (GO:0070593), cell adhesion (GO:0007155)

GO Molecular Function (2): cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), axon (GO:0030424), synapse (GO:0045202), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
SLC-mediated transport of organic anions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	2
axonogenesis	1
neuron projection guidance	1
lactate transmembrane transport	1
neuron recognition	1
cellular process	1
cell adhesion mediator activity	1
binding	1
membrane	1
cell periphery	1
neuron projection	1
cell junction	1
cellular anatomical structure	1

Protein interactions and networks

STRING

598 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EMB	SLC16A7	O60669	883
EMB	SLC16A3	O15427	870
EMB	FN1	P02751	719
EMB	SLC16A8	O95907	706
EMB	CENPV	Q7Z7K6	670
EMB	ERVW-1	Q9UQF0	670
EMB	DDX53	Q86TM3	663
EMB	MCTS1	Q9ULC4	639
EMB	ITIH4	Q14624	621
EMB	SLC16A1	P53985	591
EMB	BSG	P35613	560
EMB	CD8A	P01732	521
EMB	TNFRSF9	Q07011	518
EMB	BABAM1	Q9NWV8	508
EMB	SLC16A4	O15374	507

IntAct

48 interactions, top by confidence:

A	B	Type	Score
COMMD6	VPS26C	psi-mi:“MI:0914”(association)	0.640
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
GCAT	NDUFS6	psi-mi:“MI:0914”(association)	0.530
FNDC11	AKR7A3	psi-mi:“MI:0914”(association)	0.530
NYX	LYPLA2	psi-mi:“MI:0914”(association)	0.530
SLC16A11	H2AB2	psi-mi:“MI:0914”(association)	0.530
LGALS12	EMB	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
SRPRB	CTDNEP1	psi-mi:“MI:0914”(association)	0.530
DHRS9	MFSD4B	psi-mi:“MI:0914”(association)	0.530
PER3	PER1	psi-mi:“MI:0914”(association)	0.500
EMB	BCS1L	psi-mi:“MI:0915”(physical association)	0.500
SULT6B1	EMB	psi-mi:“MI:0915”(physical association)	0.400
LGALS8	SLC22A23	psi-mi:“MI:0914”(association)	0.350
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.350
SRPRB	GOSR1	psi-mi:“MI:0914”(association)	0.350
COMMD6	VPS26C	psi-mi:“MI:0914”(association)	0.350
DND1	ATXN3	psi-mi:“MI:0914”(association)	0.350
DHRS9	ATP2B2	psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
FAM174C	MAP2K7	psi-mi:“MI:0914”(association)	0.350
TRIR	EMB	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS), EMB (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IGV4, A0A8M2B818, A0JM41, A2VD98, B0CLX4, B6ZK77, D3YX43, F1LW30, O00241, O18906, O54901, O88775, O95256, P00545, P04218, P0C673, P10522, P13369, P17948, P21995, P27931, P35916, P35917, P35969, P37301, P42071, P42703, P53767, Q08DK1, Q15762, Q58EG3, Q5DX21, Q5FWR8, Q5R412, Q5U2P2, Q5VJ70, Q6GMZ9, Q6PCB8, Q6X936, Q7TSN7

Diamond homologs: O88775, P17790, P21995, P26453, P35613, Q6PCB8, P18572, P97300, P97546, Q28740, Q6WRH9, Q865R3, Q99PA3, Q9Y639, O15394, O35158, O75325, Q32MD9, Q5VST9, Q9HCK4, O60469, Q5DTJ9, Q8VHZ8, Q91V87, Q9ERC8, P35329, Q96RW7, O35136

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	42
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
443092	GRCh37/hg19 5q11.1(chr5:49430268-50213279)x1	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2165 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:50411271:C:A	W103C	0.994
5:50411271:C:G	W103C	0.994
5:50411273:A:G	W103R	0.991
5:50411273:A:T	W103R	0.991
5:50405755:C:A	W190C	0.987
5:50405755:C:G	W190C	0.987
5:50405749:C:A	W192C	0.986
5:50405749:C:G	W192C	0.986
5:50411323:A:G	L86P	0.986
5:50410931:A:C	Y140D	0.984
5:50410924:C:G	C142S	0.983
5:50410925:A:T	C142S	0.983
5:50411317:C:G	C88S	0.982
5:50411318:A:T	C88S	0.982
5:50410925:A:G	C142R	0.980
5:50405751:A:G	W192R	0.979
5:50405751:A:T	W192R	0.979
5:50410887:A:C	F154L	0.978
5:50410887:A:T	F154L	0.978
5:50410889:A:G	F154L	0.978
5:50410923:A:C	C142W	0.978
5:50411318:A:G	C88R	0.978
5:50403390:A:G	L222P	0.976
5:50411272:C:G	W103S	0.975
5:50405757:A:G	W190R	0.971
5:50405757:A:T	W190R	0.971
5:50403332:G:C	F241L	0.970
5:50403332:G:T	F241L	0.970
5:50403334:A:G	F241L	0.970
5:50403345:C:G	C237S	0.970

dbSNP variants (sampled 300 via entrez): RS1000056652 (5:50431963 G>A), RS1000087049 (5:50438884 A>C,T), RS1000108700 (5:50432347 T>TG), RS1000164500 (5:50416888 TTC>T), RS1000646857 (5:50409465 A>C), RS1000699272 (5:50409708 G>T), RS1000712198 (5:50441507 G>A), RS1000901049 (5:50426115 C>G,T), RS1000906291 (5:50415519 G>A), RS1001150291 (5:50403594 T>C), RS1001164154 (5:50415193 C>T), RS1001284998 (5:50420067 A>G), RS1001337327 (5:50420250 C>A,T), RS1001353663 (5:50426608 A>T), RS1001474306 (5:50441687 G>C)

Disease associations

OMIM: gene MIM:615669 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004946_64	Schizophrenia	1.000000e-08
GCST007201_438	Schizophrenia	2.000000e-07
GCST007847_111	Type 2 diabetes	8.000000e-09
GCST007847_57	Type 2 diabetes	2.000000e-07
GCST008573_7	Composite immunoglobulin trait (IgA/IgM)	7.000000e-08
GCST009391_166	Metabolite levels	9.000000e-06
GCST009391_1781	Metabolite levels	8.000000e-06
GCST010002_25	Refractive error	7.000000e-10
GCST011010_13	Electrocardiographic traits (multivariate)	5.000000e-09
GCST90000047_99	Age at first sexual intercourse	4.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0010487	glutamate measurement
EFO:0010457	Alpha ketoglutarate measurement
EFO:0010480	fumarate measurement
EFO:0010509	maleate measurement
EFO:0004327	electrocardiography
EFO:0009749	age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression, decreases reaction	1
methylparaben	decreases expression	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	decreases expression	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Calcitriol	increases expression	1
Copper	affects binding, decreases expression	1
Dinitrochlorobenzene	decreases expression	1
Eugenol	decreases expression	1
Nickel	increases expression, affects expression, decreases reaction	1
Oxazolone	decreases expression	1
Testosterone	decreases expression	1
Tretinoin	increases expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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