C2CD5

Summary

C2CD5 (C2 calcium dependent domain containing 5, HGNC:29062) is a protein-coding gene on chromosome 12p12.1, encoding C2 domain-containing protein 5 (Q86YS7). Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes.

Enables calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in several processes, including insulin receptor signaling pathway; intracellular protein transmembrane transport; and positive regulation of protein targeting to membrane. Located in several cellular components, including centriolar satellite; cytoplasmic vesicle membrane; and ruffle membrane.

Source: NCBI Gene 9847 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 131 total
• Druggable target: yes
• MANE Select transcript: NM_001286176

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29062
Approved symbol	C2CD5
Name	C2 calcium dependent domain containing 5
Location	12p12.1
Locus type	gene with protein product
Status	Approved
Aliases	CDP138
Ensembl gene	ENSG00000111731
Ensembl biotype	protein_coding
OMIM	618044
Entrez	9847

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 42 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000333957, ENST00000396028, ENST00000446597, ENST00000535304, ENST00000535555, ENST00000536386, ENST00000537643, ENST00000539615, ENST00000540245, ENST00000540703, ENST00000541310, ENST00000542676, ENST00000542683, ENST00000542768, ENST00000543797, ENST00000543855, ENST00000543888, ENST00000545552, ENST00000906350, ENST00000906351, ENST00000906352, ENST00000906353, ENST00000906354, ENST00000906355, ENST00000906356, ENST00000906357, ENST00000906358, ENST00000906359, ENST00000906360, ENST00000906361, ENST00000906362, ENST00000906363, ENST00000906364, ENST00000906365, ENST00000906366, ENST00000922612, ENST00000922613, ENST00000922614, ENST00000922615, ENST00000922616, ENST00000922617, ENST00000960565, ENST00000960566, ENST00000960567, ENST00000960568, ENST00000960569, ENST00000960570, ENST00000960571, ENST00000960572, ENST00000960573, ENST00000960574, ENST00000960575

RefSeq mRNA: 18 — MANE Select: NM_001286176 NM_001286173, NM_001286174, NM_001286175, NM_001286176, NM_001286177, NM_001385322, NM_001385323, NM_001385324, NM_001385325, NM_001385326, NM_001385327, NM_001385328, NM_001385329, NM_001385330, NM_001385331, NM_001385332, NM_001385333, NM_014802

CCDS: CCDS31758, CCDS66337, CCDS66338, CCDS66339, CCDS66340

Canonical transcript exons

ENST00000446597 — 27 exons

Exon	Start	End
ENSE00000728999	22453896	22454042
ENSE00000729289	22470824	22470911
ENSE00000729458	22478313	22478477
ENSE00000822361	22469709	22469795
ENSE00001337325	22448583	22449891
ENSE00001337354	22517986	22518137
ENSE00001523621	22458484	22458585
ENSE00001523622	22459492	22459542
ENSE00003463022	22456971	22457161
ENSE00003471796	22472744	22472807
ENSE00003471862	22524472	22524627
ENSE00003474207	22523426	22523624
ENSE00003521039	22472286	22472347
ENSE00003523742	22482557	22482743
ENSE00003525242	22527721	22527892
ENSE00003527317	22471967	22472065
ENSE00003529603	22506711	22506819
ENSE00003537513	22535258	22535344
ENSE00003555013	22471399	22471488
ENSE00003561085	22484697	22484888
ENSE00003586633	22490123	22490218
ENSE00003632309	22544061	22544179
ENSE00003635237	22493223	22493337
ENSE00003659545	22474751	22474891
ENSE00003688944	22513294	22513379
ENSE00003689803	22525610	22525705
ENSE00003921355	22544320	22544542

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9880 / max 444.9620, expressed in 1708 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130071	5.5540	1373
130072	5.4340	1591

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.37	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.79	gold quality
cerebellar hemisphere	UBERON:0002245	97.54	gold quality
cerebellar cortex	UBERON:0002129	97.53	gold quality
middle temporal gyrus	UBERON:0002771	97.53	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.53	gold quality
oocyte	CL:0000023	97.44	gold quality
bronchial epithelial cell	CL:0002328	97.29	gold quality
cerebellum	UBERON:0002037	97.21	gold quality
germinal epithelium of ovary	UBERON:0001304	97.16	gold quality
parietal pleura	UBERON:0002400	96.96	gold quality
right uterine tube	UBERON:0001302	96.72	gold quality
visceral pleura	UBERON:0002401	96.41	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.36	gold quality
jejunal mucosa	UBERON:0000399	96.34	gold quality
colonic mucosa	UBERON:0000317	96.22	gold quality
pleura	UBERON:0000977	96.20	gold quality
primary visual cortex	UBERON:0002436	96.04	gold quality
choroid plexus epithelium	UBERON:0003911	95.85	gold quality
skin of hip	UBERON:0001554	95.75	gold quality
epithelium of bronchus	UBERON:0002031	95.75	gold quality
postcentral gyrus	UBERON:0002581	95.75	gold quality
cerebellar vermis	UBERON:0004720	95.62	gold quality
tibia	UBERON:0000979	95.60	gold quality
bronchus	UBERON:0002185	95.53	gold quality
superior frontal gyrus	UBERON:0002661	95.40	gold quality
superficial temporal artery	UBERON:0001614	95.28	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.13	gold quality
upper leg skin	UBERON:0004262	95.02	gold quality
blood vessel layer	UBERON:0004797	94.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting C2CD5, 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-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4673	100.00	66.64	1490
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-4534	99.99	66.58	1907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-145-5P	99.92	71.13	1836

Literature-anchored findings (GeneRIF, showing 2)

• Enhanced radiosensitivity and decreased migration in cells caused by CDP138 knockdown are partially dependent on GDF15 inhibition. (PMID:28880265)
• Study finds that CDK5, 14-3-3 epsilon, and KIAA0528 are all essential for cytoplasmic dynein force adaptation and that they regulate the transport of lipid droplets, lysosomes, and mitochondria. (PMID:30651536)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	c2cd5	ENSDARG00000094590
mus_musculus	C2cd5	ENSMUSG00000030279
rattus_norvegicus	C2cd5	ENSRNOG00000014382

Protein

Protein identifiers

C2 domain-containing protein 5 — Q86YS7 (reviewed: Q86YS7)

Alternative names: C2 domain-containing phosphoprotein of 138 kDa

All UniProt accessions (4): Q86YS7, H0YFC4, H0YFE9, H0YGU7

UniProt curated annotations — full annotation on UniProt →

Function. Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM.

Subcellular location. Cytoplasmic vesicle membrane. Cytoplasm. Cell cortex. Cell membrane. Cell projection. Ruffle.

Post-translational modifications. Phosphorylated on Ser-197 by active myristoylated kinase AKT2; insulin-stimulated phosphorylation by AKT2 regulates SLC2A4/GLUT4 translocation into the plasma membrane.

Cofactor. Binds 3 Ca(2+) ions per C2 domain.

Domain organisation. The C2 domain binds to calcium and membrane lipids.

Isoforms (5)

UniProt ID	Names	Canonical?
Q86YS7-1	1	yes
Q86YS7-2	2
Q86YS7-3	3
Q86YS7-4	4
Q86YS7-5	5

RefSeq proteins (18): NP_001273102, NP_001273103, NP_001273104, NP_001273105, NP_001273106, NP_001372251, NP_001372252, NP_001372253, NP_001372254, NP_001372255, NP_001372256, NP_001372257, NP_001372258, NP_001372259, NP_001372260, NP_001372261, NP_001372262, NP_055617 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR037785	C2_C2CD5	Domain
IPR038983	C2CD5	Family
IPR056430	C2CD5_YbjQ-like_dom	Domain
IPR056431	C2CD5_YbjQ-rel_dom	Domain
IPR057815	C2CD5_C	Domain

Pfam: PF00168, PF23025, PF23028, PF23128

UniProt features (54 total): modified residue 21, binding site 11, mutagenesis site 7, splice variant 5, compositionally biased region 3, sequence conflict 3, region of interest 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86YS7-F1	74.34	0.40

Functional residue map

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

Ligand- & substrate-binding residues (11): 76; 76; 78; 78; 78; 81; 84; 84; 19; 19; 26

Post-translational modifications (21): 197, 200, 260, 293, 295, 304, 305, 306, 317, 323, 601, 643, 657, 659, 661, 662, 666, 671, 807, 817 …

Mutagenesis-validated functional residues (7):

Position	Phenotype
19	reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated slc2a4/glut4 translocation; when associate
26	reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated slc2a4/glut4 translocation; when associate
76	reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated slc2a4/glut4 translocation; when associate
78	reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated slc2a4/glut4 translocation; when associate
84	reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated slc2a4/glut4 translocation; when associate
197	inhibits insulin-stimulated akt2-induced phosphorylation, slc2a4/glut4 translocation to the cell surface and gsv-pm fusi
200	does not inhibit insulin-stimulated slc2a4/glut4 translocation.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 260 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, MODULE_97, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_VESICLE_FUSION, GOBP_CARBOHYDRATE_TRANSPORT, GCM_GSPT1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_PROTEIN_TARGETING, MODULE_182, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, GOCC_RUFFLE, REACTOME_MEMBRANE_TRAFFICKING

GO Biological Process (8): insulin receptor signaling pathway (GO:0008286), positive regulation of D-glucose transmembrane transport (GO:0010828), positive regulation of vesicle fusion (GO:0031340), intracellular protein transmembrane transport (GO:0065002), protein localization to plasma membrane (GO:0072659), positive regulation of protein targeting to membrane (GO:0090314), intracellular protein localization (GO:0008104), protein transport (GO:0015031)

GO Molecular Function (5): calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), protein binding (GO:0005515), lipid binding (GO:0008289), metal ion binding (GO:0046872)

GO Cellular Component (11): cytosol (GO:0005829), plasma membrane (GO:0005886), cell cortex (GO:0005938), cytoplasmic vesicle membrane (GO:0030659), ruffle membrane (GO:0032587), centriolar satellite (GO:0034451), ruffle (GO:0001726), cytoplasm (GO:0005737), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Membrane Trafficking	1
Vesicle-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	3
binding	2
cell periphery	2
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to insulin stimulus	1
regulation of D-glucose transmembrane transport	1
positive regulation of transmembrane transport	1
D-glucose transmembrane transport	1
vesicle fusion	1
positive regulation of organelle organization	1
regulation of vesicle fusion	1
positive regulation of transport	1
intracellular protein transport	1
protein transmembrane transport	1
protein localization to membrane	1
protein localization to cell periphery	1
protein targeting to membrane	1
positive regulation of cellular process	1
regulation of protein targeting to membrane	1
positive regulation of establishment of protein localization	1
macromolecule localization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
metal ion binding	1
phospholipid binding	1
cation binding	1
membrane	1
vesicle membrane	1
cytoplasmic vesicle	1
ruffle	1
cell projection membrane	1
leading edge membrane	1
centrosome	1
cell leading edge	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

598 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C2CD5	FIBP	O43427	544
C2CD5	CDK5	Q00535	537
C2CD5	SUPT7L	O94864	473
C2CD5	USP6NL	Q92738	427
C2CD5	STXBP4	Q6ZWJ1	418
C2CD5	ATOSB	Q7L5A3	406
C2CD5	TAF13	Q15543	401
C2CD5	SPATA6	Q9NWH7	397
C2CD5	SPIN4	Q56A73	385
C2CD5	TBC1D4	O60343	373
C2CD5	RHNO1	Q9BSD3	338
C2CD5	RAI14	Q9P0K7	320
C2CD5	ZNHIT1	O43257	319
C2CD5	WWC3	Q9ULE0	316
C2CD5	ETNK1	Q9HBU6	314

IntAct

85 interactions, top by confidence:

A	B	Type	Score
RBM8A	CASC3	psi-mi:“MI:0914”(association)	0.900
CDK2	CCNB2	psi-mi:“MI:0914”(association)	0.860
CDK5	FIBP	psi-mi:“MI:0914”(association)	0.840
FIBP	CDK5	psi-mi:“MI:0914”(association)	0.840
SDC2	PDPK1	psi-mi:“MI:0914”(association)	0.640
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
PTGER3	PIK3R2	psi-mi:“MI:0914”(association)	0.530
NAGK	ZBTB43	psi-mi:“MI:0914”(association)	0.530
CD44	PDPK1	psi-mi:“MI:0914”(association)	0.530
C2CD5	AHNAK	psi-mi:“MI:0915”(physical association)	0.400
Ect2	STX18	psi-mi:“MI:0914”(association)	0.350
Lck	TLE5	psi-mi:“MI:0914”(association)	0.350
RACGAP1	STX18	psi-mi:“MI:0914”(association)	0.350
Naa10	MYO9A	psi-mi:“MI:0914”(association)	0.350
Ppp4r3a	TIA1	psi-mi:“MI:0914”(association)	0.350
Pcdh1	SRI	psi-mi:“MI:0914”(association)	0.350
RAB5C		psi-mi:“MI:0914”(association)	0.350
QSOX2	NAP1L1	psi-mi:“MI:0914”(association)	0.350
SGTB	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
HNRNPD	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
SYNCRIP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350

BioGRID (133): C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS)

ESM2 similar proteins: A7E2V1, A7UA95, B1WC10, D4ACE5, E7FCN8, E9PUQ8, F6U5F9, O15327, O60308, O97790, P0CI65, P48736, P97874, Q059U7, Q16760, Q1LX49, Q28BX9, Q2I0E5, Q3UMR0, Q4R4D7, Q5RA60, Q5RDC8, Q5REW9, Q5U2N3, Q5ZLG9, Q69Z98, Q6PJI9, Q6WQJ1, Q6ZPQ6, Q7TPS5, Q7Z494, Q80T23, Q80TR8, Q812E4, Q86TI0, Q86UW7, Q86YS7, Q8BYR5, Q8BZN6, Q8C0M0

Diamond homologs: A3KGK3, A8KBH6, B2RUP2, B3DLH6, C9J798, K8FE10, O00445, O08625, O35681, O43374, O43581, O75923, O95294, P04409, P05126, P05128, P05129, P05130, P05696, P05771, P05772, P08630, P0C871, P10102, P10829, P13677, P17252, P20444, P27715, P40748, P46935, P47861, P63318, P63319, P68403, P68404, P90980, Q14644, Q16974, Q25378

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
AKT2	“up-regulates activity”	C2CD5	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 108 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:

Pathway	Partners	Fold	FDR
RHOB GTPase cycle	5	10.7×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	104
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4779 predictions. Top by Δscore:

Variant	Effect	Δscore
12:22457028:A:AC	donor_gain	1.0000
12:22457029:G:C	donor_gain	1.0000
12:22457159:TGG:T	acceptor_gain	1.0000
12:22457162:C:CC	acceptor_gain	1.0000
12:22469703:A:C	donor_gain	1.0000
12:22469792:GAGG:G	acceptor_gain	1.0000
12:22469793:AGG:A	acceptor_gain	1.0000
12:22469794:GG:G	acceptor_gain	1.0000
12:22469796:C:CC	acceptor_gain	1.0000
12:22470819:TTTAC:T	donor_loss	1.0000
12:22470820:TTAC:T	donor_loss	1.0000
12:22470821:TACC:T	donor_loss	1.0000
12:22470822:A:C	donor_loss	1.0000
12:22470823:C:T	donor_loss	1.0000
12:22470823:CCT:C	donor_gain	1.0000
12:22470910:ACC:A	acceptor_loss	1.0000
12:22470912:C:CA	acceptor_loss	1.0000
12:22471394:ATTAC:A	donor_loss	1.0000
12:22471395:TTACC:T	donor_loss	1.0000
12:22471396:TACCT:T	donor_loss	1.0000
12:22471397:A:T	donor_loss	1.0000
12:22471398:C:CT	donor_loss	1.0000
12:22471487:CT:C	acceptor_gain	1.0000
12:22471489:C:CC	acceptor_gain	1.0000
12:22472730:A:C	donor_gain	1.0000
12:22472809:T:C	acceptor_gain	1.0000
12:22474747:TTACC:T	donor_loss	1.0000
12:22474750:C:CA	donor_loss	1.0000
12:22474752:T:TA	donor_gain	1.0000
12:22474889:CTC:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000055204 (12:22466468 C>T), RS1000103400 (12:22476066 C>G), RS1000118888 (12:22520411 T>C), RS1000128673 (12:22452265 T>C), RS1000207241 (12:22469486 A>C,G), RS1000225427 (12:22468425 C>G), RS1000261623 (12:22481975 G>A,C), RS1000265290 (12:22462074 G>A,T), RS1000279079 (12:22520140 G>C), RS1000303955 (12:22543927 G>C,T), RS1000318027 (12:22513780 T>A), RS1000318700 (12:22501021 C>A,G,T), RS1000344849 (12:22459137 G>T), RS1000386578 (12:22462395 T>C), RS1000396137 (12:22501244 A>C)

Disease associations

OMIM: gene MIM:618044 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST006291_83	Spherical equivalent or myopia (age of diagnosis)	1.000000e-09
GCST009391_594	Metabolite levels	8.000000e-06
GCST010002_211	Refractive error	9.000000e-26
GCST90002400_78	Plateletcrit	3.000000e-18
GCST90002401_234	Platelet distribution width	2.000000e-09
GCST90002402_367	Platelet count	3.000000e-21

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset
EFO:0010501	indole-3-propionate measurement
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067261 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.02	Kd	9.633	nM	CHEMBL3752910
7.75	ED50	17.67	nM	CHEMBL3752910
7.44	Kd	36.18	nM	CHEMBL5653589
7.18	ED50	66.35	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147973: Binding affinity to human C2CD5 incubated for 45 mins by Kinobead based pull down assay	kd	0.0096	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147973: Binding affinity to human C2CD5 incubated for 45 mins by Kinobead based pull down assay	kd	0.0362	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance	3
Acetaminophen	decreases expression	2
Arsenic	decreases expression, increases abundance	2
Hydrogen Peroxide	affects expression, affects cotreatment, decreases expression	2
Quercetin	decreases expression, increases phosphorylation	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	decreases methylation, decreases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
azoxystrobin	decreases expression	1
deguelin	decreases expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
pyrimidifen	decreases expression	1
thifluzamide	decreases expression	1
abrine	decreases expression	1
pyrachlostrobin	decreases expression	1
picoxystrobin	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Antimycin A	decreases expression	1
Atrazine	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651015	Binding	Binding affinity to human C2CD5 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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