CORO1C

gene
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Also known as coronin-3HCRNN4

Summary

CORO1C (coronin 1C, HGNC:2254) is a protein-coding gene on chromosome 12q24.11, encoding Coronin-1C (Q9ULV4). Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1.

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 23603 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 53 total
  • Druggable target: yes
  • MANE Select transcript: NM_014325

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:2254
Approved symbolCORO1C
Namecoronin 1C
Location12q24.11
Locus typegene with protein product
StatusApproved
Aliasescoronin-3, HCRNN4
Ensembl geneENSG00000110880
Ensembl biotypeprotein_coding
OMIM605269
Entrez23603

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 37 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000261401, ENST00000420959, ENST00000421578, ENST00000541050, ENST00000546571, ENST00000546705, ENST00000547170, ENST00000547294, ENST00000547361, ENST00000549384, ENST00000549387, ENST00000549772, ENST00000550032, ENST00000550542, ENST00000551044, ENST00000551059, ENST00000551550, ENST00000552030, ENST00000552871, ENST00000878546, ENST00000878547, ENST00000878548, ENST00000878549, ENST00000878550, ENST00000878551, ENST00000878552, ENST00000878553, ENST00000878554, ENST00000878555, ENST00000878556, ENST00000878557, ENST00000878558, ENST00000878559, ENST00000937033, ENST00000937034, ENST00000937035, ENST00000937036, ENST00000937037, ENST00000937038, ENST00000937039, ENST00000937040, ENST00000958760, ENST00000958761, ENST00000958762

RefSeq mRNA: 3 — MANE Select: NM_014325 NM_001105237, NM_001276471, NM_014325

CCDS: CCDS61236, CCDS9120

Canonical transcript exons

ENST00000261401 — 11 exons

ExonStartEnd
ENSE00000754666108658738108658919
ENSE00000754668108662029108662158
ENSE00000818391108645109108647522
ENSE00001245949108731429108731518
ENSE00003490068108654306108654410
ENSE00003491942108648963108649020
ENSE00003531501108678272108678394
ENSE00003570790108701124108701323
ENSE00003595798108657304108657423
ENSE00003607197108648605108648850
ENSE00003617618108652272108652417

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 93.6416 / max 1174.4692, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
13316190.16841826
1331603.14201419
1331620.2930119
1331560.03826

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
saphenous veinUBERON:000731899.23gold quality
tendon of biceps brachiiUBERON:000818899.13gold quality
ganglionic eminenceUBERON:000402398.80gold quality
tendonUBERON:000004398.55gold quality
synovial jointUBERON:000221798.55gold quality
calcaneal tendonUBERON:000370198.53gold quality
stromal cell of endometriumCL:000225598.37gold quality
colonic epitheliumUBERON:000039798.20gold quality
urethraUBERON:000005798.16gold quality
popliteal arteryUBERON:000225098.05gold quality
tibial arteryUBERON:000761098.04gold quality
penisUBERON:000098998.02gold quality
smooth muscle tissueUBERON:000113598.02gold quality
amniotic fluidUBERON:000017397.98gold quality
myometriumUBERON:000129697.98gold quality
nippleUBERON:000203097.98gold quality
cauda epididymisUBERON:000436097.88gold quality
lower esophagus muscularis layerUBERON:003583397.88gold quality
lower esophagusUBERON:001347397.87gold quality
muscle layer of sigmoid colonUBERON:003580597.86gold quality
right coronary arteryUBERON:000162597.85gold quality
body of uterusUBERON:000985397.80gold quality
esophagogastric junction muscularis propriaUBERON:003584197.72gold quality
aortaUBERON:000094797.69gold quality
monocyteCL:000057697.46gold quality
coronary arteryUBERON:000162197.46gold quality
left coronary arteryUBERON:000162697.44gold quality
mononuclear cellCL:000084297.34gold quality
left uterine tubeUBERON:000130397.30gold quality
mucosa of stomachUBERON:000119997.21gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

ExperimentMarker?Max mean expression
E-HCAD-5yes22.14
E-HCAD-10yes15.74
E-CURD-122yes11.77
E-CURD-46yes9.98
E-MTAB-9388yes7.78
E-GEOD-93593no7.45
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): F2R, F2RL1, MYOD1, NR1I2

miRNA regulators (miRDB)

122 targeting CORO1C, 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-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-8485100.0077.574731
HSA-MIR-5692A100.0074.406850
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-548P99.9872.253784
HSA-MIR-1213699.9872.815713
HSA-MIR-569699.9872.364487
HSA-MIR-60799.9773.625593
HSA-MIR-96-5P99.9572.802140
HSA-MIR-651-3P99.9473.485177
HSA-MIR-1-3P99.9372.351914
HSA-MIR-20699.9372.501893
HSA-MIR-218-5P99.9372.222103
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-1213399.9271.822006
HSA-MIR-61399.9171.501710
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-7-2-3P99.9171.404394
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-182-5P99.8774.032589

Literature-anchored findings (GeneRIF, showing 26)

  • oligomerization, F-actin interaction and membrane association are mediated by carboxyl terminus (PMID:12377779)
  • We show that coronin 3 similar to other coronins interacts with the Arp2/3-complex and cofilin indicating that this family in general is involved in regulating Arp2/3-mediated events. (PMID:17274980)
  • Fndings postulate a role for CRN2 isoforms in the structural and functional organization of F-actin in highly ordered protein complexes. (PMID:19651142)
  • Coronin 1C negatively regulates epithelial cell migration via FAK-mediated inhibition of cell-matrix adhesion. (PMID:19913511)
  • Patients with higher coronin-1C expression had a more advanced stage of hepatocellular carcinoma. (PMID:20678442)
  • There is a strong expression of both SELPLG and coronin-1C in the majority of primary effusion lymphomas, irrespective of their gene dosage. SELPLG is critical for cell migration and chemotaxis, while CORO1C regulates actin-dependent processes. (PMID:20690162)
  • Coronin 3 promotes gastric cancer metastasis via the up-regulation of MMP-9 and cathepsin K. (PMID:22974233)
  • Coronin-1C overexpression is associated withand hepatocellular carcinoma growth through enhancement of tumor cell proliferation and migration, which are correlated with Rac-1 activation. (PMID:23292607)
  • Data indicate that coronin 1C protein (CORO1C) was a direct target of the microRNA miR-1/133a cluster in EBC-1 CORO1C was a direct target of the miR-1/133a cluster in lung-squamous cell carcinoma cell line EBC-1. (PMID:25518741)
  • Coro1C mediated Rac1 trafficking through actin-rich vesicles. (PMID:25862165)
  • findings emphasize the power of genetic modifiers, PLS3 and CORO1C, to unravel the cellular pathomechanisms underlying spinal muscular atrophy (SMA)–and the power of combinatorial therapy based on splice correction of SMN2 and endocytosis improvement to efficiently treat SMA (PMID:27499521)
  • It would appear that YB-1 could regulate cell invasion and migration via downregulation of its indirect target coronin-1C. The association between YB-1 and coronin-1C offers a novel approach by which metastasis of breast cancer cells could be targeted and abrogated. (PMID:28302118)
  • circBIRC6 and circCORO1C are functionally associated with the pluripotent state in undifferentiated human embryonic stem cells (PMID:29074849)
  • These results identify coronin 1C as a novel player of the multi-faceted mechanism responsible for invadopodia formation, MT1-MMP surface exposure and invasiveness in breast cancer cells. (PMID:30065298)
  • Coronin 1c protein and F-actin protein are highly expressed in breast cancer and their expression may be related to the metastasis of breast cancer cells. (PMID:30150608)
  • CORO1C promoted both proliferation and metastasis, stimulated cellular mitosis and inhibited cell apoptosis in gastric cancer cells. Gastric cancer patients with positive CORO1C expression were associated with poor prognosis and lower survival rate. (PMID:30974047)
  • miR-26 suppresses renal cell cancer via down-regulating coronin-3. (PMID:31595425)
  • MiR-206 may suppress non-small lung cancer metastasis by targeting CORO1C. (PMID:32206066)
  • Circ_0003998 Regulates the Progression and Docetaxel Sensitivity of DTX-Resistant Non-Small Cell Lung Cancer Cells by the miR-136-5p/CORO1C Axis. (PMID:33511909)
  • Cytoplasmic RAD23B interacts with CORO1C to synergistically promote colorectal cancer progression and metastasis. (PMID:34062216)
  • A peptide CORO1C-47aa encoded by the circular noncoding RNA circ-0000437 functions as a negative regulator in endometrium tumor angiogenesis. (PMID:34534547)
  • Circ_0025039 acts an oncogenic role in the progression of non-small cell lung cancer through miR-636-dependent regulation of CORO1C. (PMID:35034254)
  • CircRNA CORO1C Regulates miR-654-3p/USP7 Axis to Mediate Laryngeal Squamous Cell Carcinoma Progression. (PMID:35064359)
  • Circ_0020123 plays an oncogenic role in non-small cell lung cancer depending on the regulation of miR-512-3p/CORO1C. (PMID:35388975)
  • CORO1C, a novel PAK4 binding protein, recruits phospho-PAK4 at serine 99 to the leading edge and promotes the migration of gastric cancer cells. (PMID:35593474)
  • Coronin 1C, Regulated by Multiple microRNAs, Facilitates Cancer Cell Aggressiveness in Pancreatic Ductal Adenocarcinoma. (PMID:37239355)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriocoro1cbENSDARG00000021193
danio_reriocoro1caENSDARG00000035598
mus_musculusCoro1cENSMUSG00000004530
rattus_norvegicusCoro1cENSRNOG00000000697
drosophila_melanogastercoroFBGN0265935
caenorhabditis_elegansWBGENE00000768

Paralogs (6): CORO1A (ENSG00000102879), CORO2B (ENSG00000103647), CORO2A (ENSG00000106789), CORO6 (ENSG00000167549), CORO1B (ENSG00000172725), CORO7 (ENSG00000262246)

Protein

Protein identifiers

Coronin-1CQ9ULV4 (reviewed: Q9ULV4)

Alternative names: Coronin-3, hCRNN4

All UniProt accessions (10): B4E3S0, Q9ULV4, F8VRE9, F8VSA4, F8VTT6, F8VUX3, F8VV53, F8VVB7, F8W1H8, H0YHL7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1. Increases the presence of activated RAC1 at the leading edge of migrating cells. Required for normal organization of the cytoskeleton, including the actin cytoskeleton, microtubules and the vimentin intermediate filaments. Plays a role in endoplasmic reticulum-associated endosome fission: localizes to endosome membrane tubules and promotes recruitment of TMCC1, leading to recruitment of the endoplasmic reticulum to endosome tubules for fission. Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane. Required for normal cell proliferation, cell migration, and normal formation of lamellipodia. Required for normal distribution of mitochondria within cells. Interacts with GDP-bound RAB44 in bone marrow macrophages to promote osteoclastogenesis. Involved in the migration and chemotaxis of macrophages. Involved in myogenic differentiation.

Subunit / interactions. Binds F-actin. Interacts with RCC2. Interacts preferentially with nucleotide-free and GDP-bound RAC1. Interacts with VIM (via head domain). Isoform 1 and isoform 2 appear as homotrimers, while isoform 3 seems to exist as monomers. Interacts with MICAL2; this interaction recruits MICAL2 to the actin filaments. Interacts with RAB44 (GDP-bound); the interaction promotes osteoclastogenesis.

Subcellular location. Cell membrane. Cell projection. Lamellipodium. Ruffle membrane. Cytoplasm. Cytoskeleton. Cell cortex. Endosome membrane Cell membrane. Sarcolemma. Myofibril. Sarcomere. Synapse.

Tissue specificity. Ubiquitous.

Domain organisation. The C-terminal coiled-coil domain is essential for cortical membrane localization and oligomerization.

Miscellaneous. Exclusively expressed in well-differentiated myoblasts as well as in mature skeletal muscle.

Similarity. Belongs to the WD repeat coronin family.

Isoforms (3)

UniProt IDNamesCanonical?
Q9ULV4-11yes
Q9ULV4-22, CRN2i2
Q9ULV4-33, CRN2i3

RefSeq proteins (3): NP_001098707, NP_001263400, NP_055140* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001680WD40_rptRepeat
IPR015048DUF1899Domain
IPR015505CoroninFamily
IPR015943WD40/YVTN_repeat-like_dom_sfHomologous_superfamily
IPR019775WD40_repeat_CSConserved_site
IPR036322WD40_repeat_dom_sfHomologous_superfamily

Pfam: PF00400, PF08953, PF16300

UniProt features (53 total): strand 32, repeat 6, helix 6, turn 4, splice variant 2, chain 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7STYX-RAY DIFFRACTION2

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9ULV4-F191.100.84

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): 446

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 504 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, RNGTGGGC_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_ENDOSOME_ORGANIZATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_VESICLE_ORGANIZATION, GOBP_ACTIVATION_OF_GTPASE_ACTIVITY, GOBP_FOCAL_ADHESION_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP

GO Biological Process (27): neural crest cell migration (GO:0001755), regulation of protein phosphorylation (GO:0001932), negative regulation of protein phosphorylation (GO:0001933), phagocytosis (GO:0006909), actin filament organization (GO:0007015), signal transduction (GO:0007165), regulation of epithelial cell migration (GO:0010632), negative regulation of epithelial cell migration (GO:0010633), regulation of fibroblast migration (GO:0010762), endosomal transport (GO:0016197), ventricular system development (GO:0021591), corpus callosum development (GO:0022038), negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387), establishment of protein localization (GO:0045184), positive regulation of osteoclast differentiation (GO:0045672), macrophage chemotaxis (GO:0048246), regulation of focal adhesion assembly (GO:0051893), negative regulation of focal adhesion assembly (GO:0051895), membrane fission (GO:0090148), activation of GTPase activity (GO:0090630), endosome membrane tubulation (GO:0097750), endosome fission (GO:0140285), regulation of substrate adhesion-dependent cell spreading (GO:1900024), negative regulation of substrate adhesion-dependent cell spreading (GO:1900025), regulation of ruffle assembly (GO:1900027), positive regulation of lamellipodium morphogenesis (GO:2000394), negative regulation of cellular component organization (GO:0051129)

GO Molecular Function (4): small GTPase binding (GO:0031267), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (19): actin filament (GO:0005884), focal adhesion (GO:0005925), cell cortex (GO:0005938), endosome membrane (GO:0010008), actin cytoskeleton (GO:0015629), lateral plasma membrane (GO:0016328), flotillin complex (GO:0016600), sarcomere (GO:0030017), lamellipodium (GO:0030027), ruffle membrane (GO:0032587), sarcolemma (GO:0042383), synapse (GO:0045202), cytoplasm (GO:0005737), endosome (GO:0005768), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020), vesicle (GO:0031982), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure5
protein phosphorylation2
epithelial cell migration2
regulation of cell migration2
focal adhesion assembly2
cell periphery2
plasma membrane2
neural crest cell development1
mesenchymal cell migration1
regulation of protein modification process1
regulation of phosphorylation1
regulation of protein phosphorylation1
negative regulation of protein modification process1
negative regulation of phosphorylation1
endocytosis1
actin cytoskeleton organization1
supramolecular fiber organization1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
regulation of multicellular organismal process1
regulation of epithelial cell migration1
negative regulation of cell migration1
negative regulation of multicellular organismal process1
fibroblast migration1
vesicle-mediated transport1
intracellular transport1
brain development1
system development1
telencephalon development1
anatomical structure development1
negative regulation of protein kinase activity1
establishment of localization1
positive regulation of myeloid leukocyte differentiation1
osteoclast differentiation1
regulation of osteoclast differentiation1
leukocyte chemotaxis1
macrophage migration1

Protein interactions and networks

STRING

2550 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CORO1CPLS3P13797795
CORO1CACTR2P61160650
CORO1CTMCC1O94876639
CORO1CRAB27AP51159580
CORO1CTWF1Q12792558
CORO1CRCC2Q9P258542
CORO1CIQGAP1P46940527
CORO1CACTN4O43707522
CORO1CARPC3O15145517
CORO1CFLNAP21333506
CORO1CCAPZBP47756505
CORO1CACTN1P12814483
CORO1CDBNLP84070480
CORO1CRHOBTB3O94955453
CORO1CCFL1P23528447

IntAct

185 interactions, top by confidence:

ABTypeScore
MED4MED19psi-mi:“MI:0914”(association)0.900
MED20MED19psi-mi:“MI:0914”(association)0.840
CORO1BCORO1Cpsi-mi:“MI:0915”(physical association)0.740
DLGAP5KPNB1psi-mi:“MI:0914”(association)0.730
CFTRESYT2psi-mi:“MI:0914”(association)0.710
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
MAPK7PFDN6psi-mi:“MI:0914”(association)0.640
DAPK1MYO1Bpsi-mi:“MI:0914”(association)0.530
CORO1CGTPBP1psi-mi:“MI:0914”(association)0.530
CORO1AVARS1psi-mi:“MI:0914”(association)0.530
TWF1MYO1Cpsi-mi:“MI:0914”(association)0.530
CST1CTSVpsi-mi:“MI:0914”(association)0.530
VCAM1PSMD11psi-mi:“MI:0914”(association)0.530
CFTRPLEKHG3psi-mi:“MI:0914”(association)0.480
CFTRCNOT1psi-mi:“MI:0914”(association)0.480
EVPLCORO1Cpsi-mi:“MI:0915”(physical association)0.400
DNAH6CORO1Cpsi-mi:“MI:0915”(physical association)0.400
IRAG2CORO1Cpsi-mi:“MI:0915”(physical association)0.400
ANKRD26CORO1Cpsi-mi:“MI:0915”(physical association)0.400
Cdk1psi-mi:“MI:0915”(physical association)0.400

BioGRID (428): CORO1C (Affinity Capture-MS), CORO1C (Affinity Capture-MS), CORO1C (Affinity Capture-MS), CORO1C (Affinity Capture-MS), CORO1C (Affinity Capture-MS), CORO1C (Affinity Capture-MS), ACTB (Co-fractionation), ACTG1 (Co-fractionation), ACTR2 (Co-fractionation), ACTR3 (Co-fractionation), AIMP1 (Co-fractionation), ATP6V1F (Co-fractionation), CORO1C (Co-fractionation), CORO1C (Co-fractionation), CORO1C (Co-fractionation)

ESM2 similar proteins: A0A1S4A695, A0CDD4, A2VE01, A8IU92, B0R0D7, D3ZRP6, O88958, O97556, P46926, P48454, P50397, P50399, P62495, P62496, P62497, P62498, Q0VCX5, Q1W377, Q24208, Q259G4, Q3SYW1, Q499T7, Q4R7R3, Q503E1, Q5PQL4, Q5R4C7, Q5R8T8, Q5U2Q7, Q5ZHP3, Q5ZJL4, Q61598, Q64422, Q6B857, Q6GL74, Q6GPY6, Q6PBJ2, Q6Q7J2, Q7XPW5, Q8BTU1, Q8BWY3

Diamond homologs: A1C6X5, A1DHK2, A2QBZ0, A3GFK8, A4RD35, A5DB75, A5DTX3, O13637, P38968, Q0CYG9, Q0ULF5, Q1DX43, Q2GVT8, Q2UF60, Q4P2B6, Q4X0M4, Q5AAU3, Q5AZM3, Q5S580, Q6BRR2, Q6C414, Q6CL75, Q6FNU4, Q75A30, Q80ZK9, Q873A1, Q8N5D0, Q9ULV4, Q9WUM4, A1CH75, A1CXL0, A2QI22, A3LQ86, A4R2Q6, A5DL92, A5DST9, A6R3K5, A6S0T8, A6ZPA9, A7ECP3

SIGNOR signaling

3 interactions.

AEffectBMechanism
CSNK2A1up-regulatesCORO1Cphosphorylation
F2RL1“up-regulates quantity by expression”CORO1C“transcriptional regulation”
F2R“up-regulates quantity by expression”CORO1C“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 200 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
RHO GTPases activate PAKs728.8×6e-07
Parasite infection821.0×6e-07
Leishmania phagocytosis821.0×6e-07
Fcgamma receptor (FCGR) dependent phagocytosis816.9×3e-06
RHO GTPases Activate WASPs and WAVEs716.8×1e-05
RHO GTPases activate IQGAPs615.7×1e-04
FCGR3A-mediated phagocytosis1014.2×6e-07
Sensory processing of sound614.0×2e-04

GO biological processes:

GO termPartnersFoldFDR
platelet aggregation611.7×4e-03
establishment or maintenance of cell polarity511.6×9e-03
mitotic spindle organization69.4×9e-03
protein dephosphorylation79.0×4e-03
actin filament organization117.5×4e-04
actin cytoskeleton organization115.0×4e-03
cell migration145.0×7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance41
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2387 predictions. Top by Δscore:

VariantEffectΔscore
12:108647518:TTTTG:Tacceptor_gain1.0000
12:108647519:TTTG:Tacceptor_gain1.0000
12:108647520:TTG:Tacceptor_gain1.0000
12:108647521:TG:Tacceptor_gain1.0000
12:108647523:C:CCacceptor_gain1.0000
12:108648604:CCACA:Cdonor_gain1.0000
12:108652323:ATC:Adonor_gain1.0000
12:108652325:C:Adonor_gain1.0000
12:108653085:A:Cacceptor_gain1.0000
12:108654302:TTACC:Tdonor_loss1.0000
12:108654304:A:Cdonor_loss1.0000
12:108654406:TTTTT:Tacceptor_gain1.0000
12:108654407:TTTT:Tacceptor_gain1.0000
12:108654408:TTT:Tacceptor_gain1.0000
12:108654409:TTC:Tacceptor_loss1.0000
12:108654411:C:CAacceptor_loss1.0000
12:108654411:C:CCacceptor_gain1.0000
12:108657297:GGCGT:Gdonor_loss1.0000
12:108657298:GCGTA:Gdonor_loss1.0000
12:108657299:CGTA:Cdonor_loss1.0000
12:108657300:GTA:Gdonor_loss1.0000
12:108657301:TAC:Tdonor_loss1.0000
12:108657302:A:ACdonor_gain1.0000
12:108657302:ACC:Adonor_loss1.0000
12:108657303:C:CCdonor_gain1.0000
12:108657421:CTC:Cacceptor_gain1.0000
12:108657423:CCTG:Cacceptor_loss1.0000
12:108657424:C:CAacceptor_loss1.0000
12:108657424:C:CCacceptor_gain1.0000
12:108657425:T:Aacceptor_loss1.0000

AlphaMissense

3180 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:108648828:A:GL361P1.000
12:108648963:C:AK353N1.000
12:108648963:C:GK353N1.000
12:108648965:T:CK353E1.000
12:108648966:C:AR352S1.000
12:108648966:C:GR352S1.000
12:108648967:C:AR352M1.000
12:108648967:C:GR352T1.000
12:108648968:T:CR352G1.000
12:108648970:G:TP351H1.000
12:108648973:A:TV350D1.000
12:108652414:C:GD287H1.000
12:108652416:C:TG286D1.000
12:108652417:C:GG286R1.000
12:108654361:C:TG267E1.000
12:108654362:C:AG267W1.000
12:108657326:C:GR243P1.000
12:108657343:G:CF237L1.000
12:108657343:G:TF237L1.000
12:108657345:A:GF237L1.000
12:108657347:C:TG236E1.000
12:108657348:C:AG236W1.000
12:108657395:C:GR220T1.000
12:108658896:A:GW158R1.000
12:108658896:A:TW158R1.000
12:108662033:A:CS148R1.000
12:108662033:A:TS148R1.000
12:108662035:T:GS148R1.000
12:108662065:A:GW138R1.000
12:108662065:A:TW138R1.000

dbSNP variants (sampled 300 via entrez): RS1000004618 (12:108728119 C>T), RS1000015425 (12:108708557 G>T), RS1000048968 (12:108687456 C>T), RS1000054860 (12:108671332 GAAAGA>G), RS1000069126 (12:108708933 A>T), RS1000111901 (12:108722812 GTATGA>G), RS1000144378 (12:108723165 C>G,T), RS1000195498 (12:108690663 G>C), RS1000202795 (12:108724958 A>G), RS1000236766 (12:108677397 T>C,G), RS1000248410 (12:108729891 G>C), RS1000301703 (12:108684381 A>C,G,T), RS1000310672 (12:108669738 A>G), RS1000439506 (12:108664651 G>A), RS1000460406 (12:108721319 C>T)

Disease associations

OMIM: gene MIM:605269 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

StudyTraitp-value
GCST002408_11Response to methotrexate in juvenile idiopathic arthritis4.000000e-06
GCST002481_2Acne (severe)5.000000e-06
GCST003391_8Low high density lipoprotein cholesterol levels3.000000e-07
GCST007546_1Coronary artery disease and LDL cholesterol levels (multivariate analysis)3.000000e-09
GCST010703_222Brain morphology (MOSTest)6.000000e-13
GCST012489_46Heel bone mineral density x serum urate levels interaction5.000000e-09
GCST90002384_314Hemoglobin5.000000e-09
GCST90002387_124Immature fraction of reticulocytes1.000000e-10

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0004612high density lipoprotein cholesterol measurement
EFO:0004611low density lipoprotein cholesterol measurement
EFO:0004346neuroimaging measurement
EFO:0004531urate measurement
EFO:0009270heel bone mineral density
EFO:0004509hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067092 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, affects cotreatment, increases expression8
bisphenol Aaffects cotreatment, increases methylation, decreases expression, decreases methylation, increases expression4
Benzo(a)pyreneaffects methylation, decreases expression, affects cotreatment, increases expression3
Cisplatinincreases expression, affects response to substance, affects cotreatment, decreases expression3
bisphenol Sdecreases methylation, increases expression2
Air Pollutantsincreases expression, decreases expression, affects cotreatment, increases abundance2
Smokedecreases expression, increases expression2
Tobacco Smoke Pollutionaffects expression, increases expression2
Particulate Matterdecreases expression, increases abundance, affects cotreatment, increases expression2
bisphenol Faffects cotreatment, increases expression1
beauvericinaffects cotreatment, increases expression1
triphenyl phosphateaffects expression1
alpha-pineneaffects cotreatment, increases expression, increases abundance1
pirinixic acidincreases activity, affects binding, decreases expression1
pyrogallol 1,3-dimethyl etheraffects cotreatment, affects localization, increases expression, decreases expression1
decabromobiphenyl etherdecreases expression1
beta-lapachoneincreases expression1
sodium bichromatedecreases expression1
cobaltous chloridedecreases expression1
1-nitropyreneincreases expression1
methacrylaldehydeincreases abundance, affects cotreatment, increases expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
enniatinsaffects cotreatment, increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
ICG 001decreases expression1
abrineincreases expression1
dorsomorphinaffects cotreatment, increases expression1
jinfukangaffects cotreatment, decreases expression1
bisphenol AFincreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5651168BindingBinding affinity to human CORO1C incubated for 45 mins by Kinobead based pull down assayNVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_B2V1Abcam HEK293T CORO1C KOTransformed cell lineFemale

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acne, juvenile idiopathic arthritis