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ERGIC1

gene
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Also known as ERGIC32ERGIC-32KIAA1181NET24

Summary

ERGIC1 (endoplasmic reticulum-golgi intermediate compartment 1, HGNC:29205) is a protein-coding gene on chromosome 5q35.1, encoding Endoplasmic reticulum-Golgi intermediate compartment protein 1 (Q969X5). Possible role in transport between endoplasmic reticulum and Golgi.

This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover.

Source: NCBI Gene 57222 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): arthrogryposis multiplex congenita 2, neurogenic type (Strong, GenCC)
  • GWAS associations: 3
  • Clinical variants (ClinVar): 55 total — 2 pathogenic, 1 likely-pathogenic
  • Phenotypes (HPO): 40
  • Druggable target: yes
  • MANE Select transcript: NM_001031711

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29205
Approved symbolERGIC1
Nameendoplasmic reticulum-golgi intermediate compartment 1
Location5q35.1
Locus typegene with protein product
StatusApproved
AliasesERGIC32, ERGIC-32, KIAA1181, NET24
Ensembl geneENSG00000113719
Ensembl biotypeprotein_coding
OMIM617946
Entrez57222

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 10 protein_coding, 10 nonsense_mediated_decay, 8 protein_coding_CDS_not_defined, 7 retained_intron

ENST00000326654, ENST00000393784, ENST00000518247, ENST00000519567, ENST00000519796, ENST00000519860, ENST00000520326, ENST00000520399, ENST00000520642, ENST00000521392, ENST00000523215, ENST00000523291, ENST00000523366, ENST00000523650, ENST00000684928, ENST00000685391, ENST00000686449, ENST00000686615, ENST00000686955, ENST00000687702, ENST00000687901, ENST00000688069, ENST00000689975, ENST00000689977, ENST00000690799, ENST00000690977, ENST00000691612, ENST00000692557, ENST00000693299, ENST00000693572, ENST00000877925, ENST00000877926, ENST00000877927, ENST00000877928, ENST00000913765

RefSeq mRNA: 1 — MANE Select: NM_001031711 NM_001031711

CCDS: CCDS34292

Canonical transcript exons

ENST00000393784 — 10 exons

ExonStartEnd
ENSE00000812879172935188172935310
ENSE00001269092172909667172909761
ENSE00001715357172834251172834433
ENSE00001946832172950709172952683
ENSE00003465548172926509172926569
ENSE00003508561172924005172924109
ENSE00003545934172888699172888760
ENSE00003627457172897002172897074
ENSE00003670300172932436172932536
ENSE00003691818172914714172914838

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 77.3677 / max 1028.1139, expressed in 1820 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
6024029.23351778
6023928.45201800
6023819.26291803
602660.209074
602410.153734
602670.056627

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225598.88gold quality
oviduct epitheliumUBERON:000480498.49gold quality
right adrenal gland cortexUBERON:003582798.39gold quality
left adrenal gland cortexUBERON:003582598.37gold quality
left adrenal glandUBERON:000123498.36gold quality
right adrenal glandUBERON:000123398.31gold quality
ileal mucosaUBERON:000033198.13gold quality
adrenal glandUBERON:000236998.06gold quality
adrenal cortexUBERON:000123597.99gold quality
adrenal tissueUBERON:001830397.96gold quality
body of stomachUBERON:000116197.80gold quality
parotid glandUBERON:000183197.77gold quality
deciduaUBERON:000245097.72gold quality
thoracic aortaUBERON:000151597.65gold quality
ascending aortaUBERON:000149697.64gold quality
descending thoracic aortaUBERON:000234597.57gold quality
rectumUBERON:000105297.56gold quality
prostate glandUBERON:000236797.51gold quality
right lobe of liverUBERON:000111497.50gold quality
stomachUBERON:000094597.40gold quality
right lungUBERON:000216797.25gold quality
left uterine tubeUBERON:000130397.19gold quality
upper lobe of left lungUBERON:000895297.11gold quality
minor salivary glandUBERON:000183097.07gold quality
smooth muscle tissueUBERON:000113597.02gold quality
saliva-secreting glandUBERON:000104496.98gold quality
islet of LangerhansUBERON:000000696.97gold quality
transverse colonUBERON:000115796.97gold quality
fallopian tubeUBERON:000388996.93gold quality
esophagogastric junction muscularis propriaUBERON:003584196.92gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-GEOD-125970yes22.34
E-ANND-3yes8.54
E-CURD-122yes4.68

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 6)

  • ERGIC-32 functions as a modulator of the hErv41-hErv46 complex by stabilizing hErv46 (PMID:15308636)
  • AIM1, ERGIC1, and TPX2 were shown to be highly expressed especially in prostate cancer tissues, and high mRNA expression of ERGIC1 and TMED3 associated with AR and ERG oncogene expression (PMID:22761906)
  • Homozygous pathogenic variant in the endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 protein (ERGIC1) gene was identified in arthrogryposis multiplex congenita (AMC) neuropathic type. (PMID:28317099)
  • Data indicate that abnormal ERGIC1 and DNA-PKcs expression may play an important role in gastric cancer initiation. (PMID:28970727)
  • ERGIC1 might play an inhibitory role in the initiation and progression of gastric cancer. (PMID:29549924)
  • Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis. (PMID:34037256)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioergic1ENSDARG00000100047
mus_musculusErgic1ENSMUSG00000001576
rattus_norvegicusErgic1ENSRNOG00000003508
caenorhabditis_elegansWBGENE00022416

Paralogs (2): ERGIC2 (ENSG00000087502), ERGIC3 (ENSG00000125991)

Protein

Protein identifiers

Endoplasmic reticulum-Golgi intermediate compartment protein 1 — Q969X5 (reviewed: Q969X5)

Alternative names: ER-Golgi intermediate compartment 32 kDa protein

All UniProt accessions (11): A0A8I5KPY8, A0A8I5KS17, Q969X5, A0A8I5KSL7, A0A8I5KUV7, A0A8I5KWW8, A0A8I5KXB6, A0A8I5KYT1, A0A8J8YV97, F2Z2P5, H0YAV2

UniProt curated annotations — full annotation on UniProt →

Function. Possible role in transport between endoplasmic reticulum and Golgi.

Subunit / interactions. May form a heteromeric complex composed of ERGIC1, ERGIC2 and ERGIC3. Within the complex, the interaction with ERGIC3 is direct. Interacts with ERGIC3/ERV46.

Subcellular location. Endoplasmic reticulum membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane. Golgi apparatus membrane.

Post-translational modifications. N-glycosylated.

Disease relevance. Arthrogryposis multiplex congenita 2, neurogenic type (AMC2) [MIM:208100] A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC2 is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMC2 transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the ERGIC family.

Isoforms (3)

UniProt IDNamesCanonical?
Q969X5-11yes
Q969X5-22
Q969X5-33

RefSeq proteins (1): NP_001026881* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR012936Erv_CDomain
IPR039542Erv_NDomain
IPR045888ErvFamily

Pfam: PF07970, PF13850

UniProt features (13 total): splice variant 5, topological domain 3, transmembrane region 2, chain 1, sequence variant 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q969X5-F188.960.63

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 74

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 275 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, LEE_METASTASIS_AND_ALTERNATIVE_SPLICING_DN, SANSOM_APC_TARGETS_UP, MYB_Q3, CREBP1_01, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, AR_Q2, OSMAN_BLADDER_CANCER_DN

GO Biological Process (3): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), vesicle-mediated transport (GO:0016192)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), membrane (GO:0016020), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm4
intracellular membrane-bounded organelle3
Golgi vesicle transport2
bounding membrane of organelle2
cellular anatomical structure2
endomembrane system2
intercellular transport1
intracellular transport1
transport1
cellular process1
binding1
Golgi apparatus1
nuclear lumen1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
coated vesicle1
endoplasmic reticulum-Golgi intermediate compartment1

Protein interactions and networks

STRING

2104 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ERGIC1SURF4O15260934
ERGIC1LMAN1P49257857
ERGIC1SURF2Q15527714
ERGIC1ARRDC3Q96B67504
ERGIC1LMAN2Q12907472
ERGIC1SURF1Q15526469
ERGIC1ALKAL2Q6UX46444
ERGIC1SEC22BO75396404
ERGIC1EPDR1Q9UM22365
ERGIC1SSR3Q9UNL2359
ERGIC1CRYBG1Q9Y4K1357
ERGIC1CCDC71Q8IV32356
ERGIC1AMZ1Q400G9353
ERGIC1YARS1P54577352
ERGIC1MAP6Q96JE9349

IntAct

84 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:0914”(association)0.710
nefACOT8psi-mi:“MI:0914”(association)0.710
B3GNT3PGRMC1psi-mi:“MI:0914”(association)0.670
repAP2A2psi-mi:“MI:0914”(association)0.660
ERGIC3ERGIC1psi-mi:“MI:0915”(physical association)0.620
ERGIC1ERGIC3psi-mi:“MI:0915”(physical association)0.620
ERGIC3ERGIC1psi-mi:“MI:0403”(colocalization)0.620
ERGIC1ERGIC3psi-mi:“MI:0403”(colocalization)0.620
EHHADHERGIC1psi-mi:“MI:0915”(physical association)0.560
KLF11ERGIC1psi-mi:“MI:0915”(physical association)0.560
NUP58ERGIC1psi-mi:“MI:0915”(physical association)0.560
FLVCR1TNFRSF10Bpsi-mi:“MI:0914”(association)0.530
TK2psi-mi:“MI:0915”(physical association)0.400
CTR9POLR2Bpsi-mi:“MI:0914”(association)0.350
Cep78ING5psi-mi:“MI:0914”(association)0.350
TFGNCOA4psi-mi:“MI:0914”(association)0.350
Smchd1SETD1Apsi-mi:“MI:0914”(association)0.350
SYN1LUC7L3psi-mi:“MI:0914”(association)0.350
PRPF4psi-mi:“MI:0914”(association)0.350
Tp53bp1WBP2psi-mi:“MI:0914”(association)0.350

BioGRID (327): ERGIC1 (Affinity Capture-MS), INA (Affinity Capture-MS), EFNB1 (Affinity Capture-MS), ERGIC1 (Co-fractionation), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8F5J9, A0JN27, F1LTR1, F1NBL0, O15294, P35438, P35439, P56558, P61201, P61202, P61203, P61599, P61600, P63138, P79101, P81436, Q03555, Q05586, Q13888, Q15303, Q27HV0, Q2PFM2, Q2TBV5, Q4L208, Q58ED9, Q5R1P0, Q5SP67, Q5ZJ75, Q61527, Q62956, Q6IQT4, Q6IR75, Q6P1K8, Q6P632, Q7ZXR3, Q8BUV3, Q8C6G8, Q8CGY8, Q8R4D1, Q91854

Diamond homologs: Q4R8X1, Q4V8Y6, Q5EAE0, Q5R8G3, Q66KH2, Q6NS19, Q6NVS2, Q803I2, Q969X5, Q9CQE7, Q9DC16, Q9LJU2, Q9T042, Q9Y282, D3Z6P0, D4B2L8, O13811, O22263, O48773, P04785, P05307, P07237, P08003, P09102, P09103, P13667, P17967, P21195, P27773, P29828, P30101, P32474, P34329, P38657, P38658, P38659, P38660, P52588, P52589, P54399

SIGNOR signaling

1 interactions.

AEffectBMechanism
ERGIC1“up-regulates quantity by stabilization”ERGIC3binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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.

GO biological processes:

GO termPartnersFoldFDR
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum521.1×1e-03
endoplasmic reticulum to Golgi vesicle-mediated transport813.6×7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic2
Likely pathogenic1
Uncertain significance30
Likely benign6
Benign2

Top pathogenic / likely-pathogenic (3)

Variant IDHGVSClassification
1012274NC_000005.9:g.172252136_172274628delPathogenic
523093NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)Pathogenic
816810NM_001031711.3(ERGIC1):c.782G>A (p.Gly261Asp)Likely pathogenic

SpliceAI

2051 predictions. Top by Δscore:

VariantEffectΔscore
5:172834430:GGAG:Gdonor_gain1.0000
5:172834431:G:GTdonor_gain1.0000
5:172834431:GAGGT:Gdonor_loss1.0000
5:172834434:GTGA:Gdonor_loss1.0000
5:172888758:TTA:Tdonor_gain1.0000
5:172888759:TA:Tdonor_gain1.0000
5:172888761:G:GGdonor_gain1.0000
5:172897000:A:AGacceptor_gain1.0000
5:172897001:G:GAacceptor_gain1.0000
5:172897070:GAAGT:Gdonor_gain1.0000
5:172897071:AAGT:Adonor_gain1.0000
5:172897071:AAGTG:Adonor_loss1.0000
5:172897073:GT:Gdonor_gain1.0000
5:172897074:TG:Tdonor_loss1.0000
5:172897075:G:GAdonor_loss1.0000
5:172897075:G:GGdonor_gain1.0000
5:172897076:TAA:Tdonor_loss1.0000
5:172909662:CCTAG:Cacceptor_loss1.0000
5:172909663:CTAG:Cacceptor_loss1.0000
5:172909665:A:AGacceptor_gain1.0000
5:172909665:A:Gacceptor_loss1.0000
5:172909665:AGT:Aacceptor_gain1.0000
5:172909666:G:GAacceptor_gain1.0000
5:172909666:GT:Gacceptor_gain1.0000
5:172909666:GTG:Gacceptor_gain1.0000
5:172909666:GTGT:Gacceptor_gain1.0000
5:172909757:CGAGT:Cdonor_gain1.0000
5:172909758:GAGT:Gdonor_gain1.0000
5:172909758:GAGTG:Gdonor_gain1.0000
5:172909760:GT:Gdonor_gain1.0000

AlphaMissense

1937 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:172888731:T:CL18P1.000
5:172909684:T:AV58D1.000
5:172909755:T:AC82S1.000
5:172909755:T:CC82R1.000
5:172909756:G:AC82Y1.000
5:172909756:G:CC82S1.000
5:172909756:G:TC82F1.000
5:172914726:A:CD88A1.000
5:172914726:A:TD88V1.000
5:172914734:G:CD91H1.000
5:172914735:A:CD91A1.000
5:172914735:A:TD91V1.000
5:172914806:T:AC115S1.000
5:172914806:T:CC115R1.000
5:172914807:G:AC115Y1.000
5:172914807:G:CC115S1.000
5:172914808:C:GC115W1.000
5:172924011:G:CG128R1.000
5:172924011:G:TG128C1.000
5:172924012:G:AG128D1.000
5:172924012:G:TG128V1.000
5:172924016:C:AN129K1.000
5:172924016:C:GN129K1.000
5:172924018:T:CF130S1.000
5:172924020:C:GH131D1.000
5:172924026:T:CS133P1.000
5:172935237:T:CF231S1.000
5:172935264:T:AV240D1.000
5:172950712:T:CC257R1.000
5:172950716:C:AA258D1.000

dbSNP variants (sampled 300 via entrez): RS1000027051 (5:172879486 T>C), RS1000031061 (5:172842298 T>A), RS1000050160 (5:172905417 C>T), RS1000135550 (5:172880706 C>T), RS1000176856 (5:172928093 G>A), RS1000193448 (5:172847609 G>A,T), RS1000194569 (5:172888022 C>A), RS1000262620 (5:172845035 G>A), RS1000279288 (5:172910709 G>C), RS1000281562 (5:172922821 G>A), RS1000346574 (5:172833679 C>G,T), RS1000374961 (5:172891252 T>C), RS1000398250 (5:172839283 T>A), RS1000431516 (5:172918191 C>A), RS1000437690 (5:172878529 C>A,T)

Disease associations

OMIM: gene MIM:617946 | disease phenotypes: MIM:617468, MIM:208100

GenCC curated gene-disease

DiseaseClassificationInheritance
arthrogryposis multiplex congenita 2, neurogenic typeStrongAutosomal recessive

Mondo (2): arthrogryposis multiplex congenita (MONDO:0015168), arthrogryposis multiplex congenita 2, neurogenic type (MONDO:0008823)

Orphanet (2): Arthrogryposis multiplex congenita (Orphanet:1037), Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0001239Wrist flexion contracture
HP:0001284Areflexia
HP:0001357Plagiocephaly
HP:0001371Flexion contracture
HP:0001558Decreased fetal movement
HP:0001562Oligohydramnios
HP:0001623Breech presentation
HP:0001627Abnormal heart morphology
HP:0001762Talipes equinovarus
HP:0001838Rocker bottom foot
HP:0002058Myopathic facies
HP:0002098Respiratory distress
HP:0002380Fasciculations
HP:0002650Scoliosis
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002803Congenital contracture
HP:0002804Arthrogryposis multiplex congenita
HP:0002827Hip dislocation
HP:0002987Elbow flexion contracture
HP:0003198Myopathy
HP:0003202Skeletal muscle atrophy
HP:0003273Hip contracture
HP:0003444EMG: chronic denervation signs
HP:0003484Upper limb muscle weakness
HP:0003577Congenital onset
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture

GWAS associations

3 associations (top):

StudyTraitp-value
GCST001999_8Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)8.000000e-06
GCST002126_10Periodontitis (CDC/AAP)5.000000e-06
GCST004131_123Inflammatory bowel disease2.000000e-06

MeSH disease descriptors (1)

DescriptorNameTree numbers
C536614Arthrogryposis multiplex congenita neurogenic type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067275 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression3
Cadmium Chloridedecreases reaction, increases abundance, increases palmitoylation, decreases expression, increases expression3
bisphenol Aaffects expression, affects cotreatment, decreases methylation2
Cadmiumdecreases reaction, increases abundance, increases palmitoylation, decreases expression2
Hydrogen Peroxideaffects expression, affects cotreatment, increases expression2
Tobacco Smoke Pollutiondecreases expression, increases expression2
Valproic Acidincreases expression2
aristolochic acid Idecreases expression1
GSK-J4increases expression1
triphenyl phosphateaffects expression1
propionaldehydeincreases expression1
arsenitedecreases methylation1
tris(1,3-dichloro-2-propyl)phosphateaffects expression1
sodium arsenitedecreases expression1
cobaltous chloridedecreases expression1
2-bromopalmitatedecreases reaction, increases abundance, increases palmitoylation1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
K 7174decreases expression1
clothianidinincreases expression1
bisphenol Bincreases expression1
abrinedecreases expression1
(+)-JQ1 compounddecreases expression1
Sunitinibincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Air Pollutantsdecreases expression, increases abundance1
Arsenicaffects methylation1
Butyrophenonesaffects response to substance1
Cuprizoneaffects cotreatment, increases expression1
Ethyl Methanesulfonatedecreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5651373BindingBinding affinity to human ERGIC1 incubated for 45 mins by Kinobead based pull down assayNVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT05393375Not specifiedCOMPLETEDArthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT05673265Not specifiedUNKNOWNPediatric and Adult Registry for Patients With ARThrogryposis
NCT06130592Not specifiedUNKNOWNTechnical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
NCT07360574Not specifiedNOT_YET_RECRUITINGPiezo2-related Arthrogryposis & physiopathOLOgy 3

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 77

This page pulls from 77 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot