CAPN15

Summary

CAPN15 (calpain 15, HGNC:11182) is a protein-coding gene on chromosome 16p13.3, encoding Calpain-15 (O75808).

This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development.

Source: NCBI Gene 6650 — RefSeq curated summary.

At a glance

• Gene–disease (curated): oculogastrointestinal-neurodevelopmental syndrome (Strong, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 396 total — 5 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 21
• MANE Select transcript: NM_005632

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11182
Approved symbol	CAPN15
Name	calpain 15
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000103326
Ensembl biotype	protein_coding
OMIM	603267
Entrez	6650

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 19 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000219611, ENST00000562370, ENST00000565010, ENST00000566977, ENST00000567216, ENST00000568402, ENST00000568988, ENST00000637507, ENST00000871912, ENST00000871913, ENST00000871914, ENST00000871915, ENST00000871916, ENST00000871917, ENST00000871918, ENST00000871919, ENST00000911868, ENST00000911869, ENST00000911870, ENST00000911871, ENST00000966293, ENST00000966294

RefSeq mRNA: 1 — MANE Select: NM_005632 NM_005632

CCDS: CCDS10410

Canonical transcript exons

ENST00000219611 — 14 exons

Exon	Start	End
ENSE00000664280	552301	552530
ENSE00000664281	552051	552212
ENSE00000664282	551512	551664
ENSE00000664283	551302	551427
ENSE00000664284	549615	549838
ENSE00000664285	549288	549471
ENSE00000664286	548993	549201
ENSE00000873908	546817	548287
ENSE00001061881	533946	533998
ENSE00001061882	527712	528029
ENSE00001061884	536029	536142
ENSE00001617004	552605	552771
ENSE00003525060	552863	553041
ENSE00003565812	553339	554636

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 95.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3165 / max 232.4783, expressed in 1784 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151930	11.3165	1784

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.98	gold quality
granulocyte	CL:0000094	95.87	gold quality
mucosa of transverse colon	UBERON:0004991	95.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.50	gold quality
cerebellar hemisphere	UBERON:0002245	93.81	gold quality
cerebellar cortex	UBERON:0002129	93.67	gold quality
metanephros cortex	UBERON:0010533	93.31	gold quality
transverse colon	UBERON:0001157	92.12	gold quality
cerebellum	UBERON:0002037	92.03	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.01	gold quality
body of pancreas	UBERON:0001150	91.57	gold quality
right testis	UBERON:0004534	91.38	gold quality
left testis	UBERON:0004533	91.19	gold quality
body of stomach	UBERON:0001161	90.64	gold quality
right lobe of liver	UBERON:0001114	90.61	gold quality
skin of leg	UBERON:0001511	90.53	gold quality
spleen	UBERON:0002106	90.36	gold quality
small intestine	UBERON:0002108	90.32	gold quality
adenohypophysis	UBERON:0002196	89.49	gold quality
apex of heart	UBERON:0002098	89.20	gold quality
skin of abdomen	UBERON:0001416	89.15	gold quality
stromal cell of endometrium	CL:0002255	89.10	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.88	gold quality
esophagus mucosa	UBERON:0002469	88.70	gold quality
left uterine tube	UBERON:0001303	88.58	gold quality
upper lobe of left lung	UBERON:0008952	88.32	gold quality
pituitary gland	UBERON:0000007	88.17	gold quality
testis	UBERON:0000473	87.71	gold quality
stomach	UBERON:0000945	87.66	gold quality
esophagus	UBERON:0001043	87.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting CAPN15, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-448	99.79	72.37	2103

Literature-anchored findings (GeneRIF, showing 3)

• Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. (PMID:32885237)
• Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. (PMID:33410501)
• Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. (PMID:37596828)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	capn15	ENSDARG00000060600
mus_musculus	Capn15	ENSMUSG00000037326
rattus_norvegicus	Capn15	ENSRNOG00000020239
drosophila_melanogaster	sol	FBGN0003464
caenorhabditis_elegans		WBGENE00011705
caenorhabditis_elegans		WBGENE00021041

Paralogs (20): CAPN1 (ENSG00000014216), SRI (ENSG00000075142), CAPN6 (ENSG00000077274), CAPN3 (ENSG00000092529), GCA (ENSG00000115271), ADGB (ENSG00000118492), CAPNS1 (ENSG00000126247), CAPN7 (ENSG00000131375), CAPN9 (ENSG00000135773), CAPN11 (ENSG00000137225), CAPN10 (ENSG00000142330), CAPN5 (ENSG00000149260), PEF1 (ENSG00000162517), CAPN2 (ENSG00000162909), CAPN13 (ENSG00000162949), CAPN12 (ENSG00000182472), CAPN8 (ENSG00000203697), CAPN14 (ENSG00000214711), PDCD6 (ENSG00000249915), CAPNS2 (ENSG00000256812)

Protein

Protein identifiers

Calpain-15 — O75808 (reviewed: O75808)

Alternative names: Small optic lobes homolog

All UniProt accessions (5): O75808, A0A1B0GVE3, H3BR03, H3BT55, H3BTS4

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Widely expressed with higher expression in brain.

Disease relevance. Oculogastrointestinal neurodevelopmental syndrome (OGIN) [MIM:619318] An autosomal recessive neurodevelopmental disorder characterized by growth deficits, microcephaly, global developmental delay, hearing loss, and microphthalmia and/or coloboma. Other congenital anomalies include imperforate anus, horseshoe kidney, and structural cardiac defects. Some patients have been reported with normal motor and cognitive development. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the peptidase C2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75808-1	1	yes
O75808-2	2

RefSeq proteins (1): NP_005623* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000169	Pept_cys_AS	Active_site
IPR001300	Peptidase_C2_calpain_cat	Domain
IPR001876	Znf_RanBP2	Domain
IPR022684	Calpain_cysteine_protease	Family
IPR036443	Znf_RanBP2_sf	Homologous_superfamily
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily

Pfam: PF00641, PF00648

Enzyme classification (BRENDA):

• EC 3.4.22.B35 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

UniProt features (27 total): zinc finger region 5, sequence variant 5, region of interest 4, modified residue 4, active site 3, compositionally biased region 2, splice variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75808-F1	71.65	0.41

Functional residue map

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

Catalytic / active sites (3): 552; 717; 737

Post-translational modifications (4): 296, 335, 338, 1070

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1474228	Degradation of the extracellular matrix
R-HSA-1474244	Extracellular matrix organization

MSigDB gene sets: 186 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, ATACCTC_MIR202, AAGCCAT_MIR135A_MIR135B, CTATGCA_MIR153, GGAMTNNNNNTCCY_UNKNOWN, WEI_MYCN_TARGETS_WITH_E_BOX, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, PARENT_MTOR_SIGNALING_UP, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, LIU_SOX4_TARGETS_DN, GOBP_PROTEOLYSIS, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GOMF_PEPTIDASE_ACTIVITY, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D

GO Biological Process (1): proteolysis (GO:0006508)

GO Molecular Function (7): calcium-dependent cysteine-type endopeptidase activity (GO:0004198), zinc ion binding (GO:0008270), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (1): cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Extracellular matrix organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	1
cysteine-type endopeptidase activity	1
transition metal ion binding	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1231 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAPN15	ZNF594	Q96JF6	535
CAPN15	EFCAB7	A8K855	513
CAPN15	ZNF236	Q9UL36	480
CAPN15	ZNF491	Q8N8L2	451
CAPN15	MED8	Q96G25	449
CAPN15	IQCE	Q6IPM2	448
CAPN15	Q3SXR2	Q3SXR2	447
CAPN15	CAST	P20810	444
CAPN15	ZNF285	Q96NJ3	438
CAPN15	ETV7	Q9Y603	436
CAPN15	CAPNS1	P04632	429
CAPN15	FOXP2	O15409	416
CAPN15	TFB2M	Q9H5Q4	412
CAPN15	SNAPC5	O75971	407
CAPN15	CCDC140	Q96MF4	392

IntAct

37 interactions, top by confidence:

A	B	Type	Score
ENTREP1	WWP2	psi-mi:“MI:0914”(association)	0.850
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
CAPN15	RNF216	psi-mi:“MI:0915”(physical association)	0.560
CAPN15	DAZAP2	psi-mi:“MI:0915”(physical association)	0.560
CAPN15	TRAF2	psi-mi:“MI:0915”(physical association)	0.560
CAPN15	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
GRN	CAPN15	psi-mi:“MI:0915”(physical association)	0.560
HEXB	CAPN15	psi-mi:“MI:0915”(physical association)	0.560
HERPUD1	CAPN15	psi-mi:“MI:0915”(physical association)	0.400
RNF215	CAPN15	psi-mi:“MI:0915”(physical association)	0.400
CAPN15	UBB	psi-mi:“MI:0915”(physical association)	0.400
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
RBCK1	UMAD1	psi-mi:“MI:0914”(association)	0.350
CTLA4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
CDH5	NBAS	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
MARCHF4	C2CD2L	psi-mi:“MI:0914”(association)	0.350
TBL1Y	HDAC3	psi-mi:“MI:0914”(association)	0.350
TGM2	MAP3K7	psi-mi:“MI:0914”(association)	0.350
RNF126	GET3	psi-mi:“MI:0914”(association)	0.350
FNDC5	CAPN15	psi-mi:“MI:0914”(association)	0.350
NIPA1	UNC119B	psi-mi:“MI:0914”(association)	0.350
	CAPN15	psi-mi:“MI:0914”(association)	0.350
CAPN15	RNF216	psi-mi:“MI:0915”(physical association)	0.000
CAPN15	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (52): CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Two-hybrid), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Affinity Capture-MS), CAPN15 (Reconstituted Complex), CAPN15 (Affinity Capture-RNA), CAPN15 (Two-hybrid)

ESM2 similar proteins: A0A8I3NFE2, A0FI79, A1A5B6, A4D2P6, D7PF45, F1LXF1, O15357, O60346, O75808, P11274, P49796, P52734, P53349, P59672, P70268, P78524, P98174, Q0QWG9, Q13233, Q13905, Q16825, Q3MII6, Q50H33, Q5RDA9, Q62925, Q63433, Q6NS60, Q6P549, Q6PDJ6, Q6WVG3, Q7Z5H3, Q8BL80, Q8BUP8, Q8N2R8, Q8TF61, Q8VHK2, Q8WXD9, Q924W7, Q92625, Q96CX2

Diamond homologs: A6NHC0, A8MX76, G3V7W1, O08529, O08688, O14815, O15484, O23184, O35350, O35646, O35920, O75808, O88456, O88501, P00789, P04574, P04632, P05044, P06813, P06814, P06815, P07384, P13135, P16259, P17655, P20807, P27398, P27730, P28676, P30626, P34308, P35750, P43367, P43368, P51186, P97571, Q07009, Q11002, Q22036, Q27970

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	4
Uncertain significance	262
Likely benign	90
Benign	12

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1074289	NM_005632.3(CAPN15):c.2905G>A (p.Gly969Ser)	Pathogenic
1074290	NM_005632.3(CAPN15):c.2159C>T (p.Ser720Phe)	Pathogenic
1074291	NM_005632.3(CAPN15):c.2398C>T (p.Arg800Trp)	Pathogenic
1074292	NM_005632.3(CAPN15):c.3083G>A (p.Arg1028Lys)	Pathogenic
1074294	NM_005632.3(CAPN15):c.2904+1_2905-45del	Pathogenic
3376853	NM_005632.3(CAPN15):c.1957G>A (p.Gly653Ser)	Likely pathogenic
3911792	NM_005632.3(CAPN15):c.1003del (p.Ser335fs)	Likely pathogenic
4846980	NM_005632.3(CAPN15):c.628G>T (p.Glu210Ter)	Likely pathogenic
929503	NM_005632.2:c.2904+1_2905-45del	Likely pathogenic

SpliceAI

3048 predictions. Top by Δscore:

Variant	Effect	Δscore
16:528028:AGGTG:A	donor_loss	1.0000
16:528030:G:GA	donor_loss	1.0000
16:528031:T:G	donor_loss	1.0000
16:549285:CAGG:C	acceptor_loss	1.0000
16:549286:A:AT	acceptor_loss	1.0000
16:549287:G:GA	acceptor_loss	1.0000
16:549612:CAG:C	acceptor_loss	1.0000
16:549819:C:G	donor_gain	1.0000
16:549831:G:GT	donor_gain	1.0000
16:549834:GCTGG:G	donor_gain	1.0000
16:551297:CACAG:C	acceptor_loss	1.0000
16:551299:CA:C	acceptor_loss	1.0000
16:551323:T:TA	acceptor_gain	1.0000
16:551424:CCAGG:C	donor_loss	1.0000
16:551429:T:A	donor_loss	1.0000
16:551507:TGCA:T	acceptor_loss	1.0000
16:551508:GCAG:G	acceptor_loss	1.0000
16:551509:CAG:C	acceptor_loss	1.0000
16:551510:A:AG	acceptor_gain	1.0000
16:551510:A:T	acceptor_loss	1.0000
16:551511:G:GA	acceptor_loss	1.0000
16:551511:G:GG	acceptor_gain	1.0000
16:551665:G:GA	donor_loss	1.0000
16:552046:TGCAG:T	acceptor_loss	1.0000
16:552047:GCAGG:G	acceptor_loss	1.0000
16:552049:AGGT:A	acceptor_loss	1.0000
16:552202:G:GT	donor_gain	1.0000
16:552203:A:T	donor_gain	1.0000
16:552209:GCAG:G	donor_gain	1.0000
16:552210:CAGGT:C	donor_loss	1.0000

AlphaMissense

7008 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:546905:T:C	C23R	1.000
16:549005:T:C	F488L	1.000
16:549006:T:C	F488S	1.000
16:549007:C:A	F488L	1.000
16:549007:C:G	F488L	1.000
16:549020:T:C	F493L	1.000
16:549021:T:C	F493S	1.000
16:549022:C:A	F493L	1.000
16:549022:C:G	F493L	1.000
16:549086:T:A	W515R	1.000
16:549086:T:C	W515R	1.000
16:549088:G:C	W515C	1.000
16:549088:G:T	W515C	1.000
16:549182:G:A	G547R	1.000
16:549182:G:C	G547R	1.000
16:549183:G:A	G547E	1.000
16:549191:G:A	G550R	1.000
16:549191:G:C	G550R	1.000
16:549191:G:T	G550W	1.000
16:549192:G:A	G550E	1.000
16:549192:G:T	G550V	1.000
16:549196:C:A	N551K	1.000
16:549196:C:G	N551K	1.000
16:549197:T:C	C552R	1.000
16:549198:G:A	C552Y	1.000
16:549200:T:A	W553R	1.000
16:549200:T:C	W553R	1.000
16:549288:G:C	W553C	1.000
16:549288:G:T	W553C	1.000
16:549293:T:C	L555P	1.000

dbSNP variants (sampled 300 via entrez): RS1000017955 (16:538582 C>T), RS1000131289 (16:534753 G>A,T), RS1000266655 (16:547727 G>A), RS1000328838 (16:525884 C>T), RS1000404210 (16:526273 G>A), RS1000435395 (16:526409 T>C), RS1000436287 (16:528590 C>T), RS1000483954 (16:541108 G>A), RS1000534449 (16:541283 G>A), RS1000570509 (16:551626 T>C,G), RS1000716248 (16:544266 T>A), RS1000720429 (16:527718 C>A,T), RS1000828690 (16:554372 C>T), RS1000886306 (16:527618 G>A), RS1001029885 (16:544077 G>A)

Disease associations

OMIM: gene MIM:603267 | disease phenotypes: MIM:619318

GenCC curated gene-disease

Disease	Classification	Inheritance
oculogastrointestinal-neurodevelopmental syndrome	Strong	Autosomal recessive

Mondo (4): oculogastrointestinal-neurodevelopmental syndrome (MONDO:0036189), microcephaly (MONDO:0001149), coloboma (MONDO:0001476), congenital heart disease (MONDO:0005453)

Orphanet (2): Oculogastrointestinal-neurodevelopmental syndrome (Orphanet:611201), OBSOLETE: Ocular coloboma (Orphanet:194)

HPO phenotypes

21 total (21 of 21 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000085	Horseshoe kidney
HP:0000252	Microcephaly
HP:0000589	Coloboma
HP:0000729	Autistic behavior
HP:0000960	Sacral dimple
HP:0001007	Hirsutism
HP:0001263	Global developmental delay
HP:0001618	Dysphonia
HP:0001647	Bicuspid aortic valve
HP:0002023	Anal atresia
HP:0002937	Hemivertebrae
HP:0003577	Congenital onset
HP:0004320	Vaginal fistula
HP:0004322	Short stature
HP:0007633	Bilateral microphthalmos
HP:0007687	Unilateral ptosis
HP:0008751	Laryngeal cleft
HP:0009765	Low hanging columella
HP:0011480	Unilateral microphthalmos
HP:0020206	Simple ear

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST005951_12	Body mass index	5.000000e-11
GCST90002390_644	Mean corpuscular hemoglobin	4.000000e-22
GCST90002391_71	Mean corpuscular hemoglobin concentration	4.000000e-13
GCST90002391_72	Mean corpuscular hemoglobin concentration	7.000000e-10
GCST90002392_489	Mean corpuscular volume	3.000000e-21
GCST90002403_663	Red blood cell count	2.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004527	mean corpuscular hemoglobin
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004305	erythrocyte count

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Estradiol	increases expression	2
Nickel	increases expression	2
Cadmium Chloride	increases expression	2
afuresertib	decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
(+)-JQ1 compound	decreases expression	1
Bortezomib	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases expression	1
Caffeine	increases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262	PHASE3	COMPLETED	Intraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137	PHASE3	COMPLETED	Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476	PHASE3	COMPLETED	Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194	PHASE3	COMPLETED	Dopamine Versus Norepinephrine Under General Anesthesia
NCT04702373	PHASE3	ACTIVE_NOT_RECRUITING	Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590	PHASE3	COMPLETED	Acute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517	PHASE3	UNKNOWN	Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674	PHASE3	RECRUITING	Effect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260	PHASE3	NOT_YET_RECRUITING	SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT00115375	PHASE2	COMPLETED	Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO)
NCT00350220	PHASE2	COMPLETED	Transfusion Strategies in Pediatric Cardiothoracic Surgery
NCT00374088	PHASE2	COMPLETED	N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
NCT00538785	PHASE2	COMPLETED	A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease
NCT00770705	PHASE2	WITHDRAWN	Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery
NCT00919945	PHASE2	TERMINATED	Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn
NCT01063712	PHASE2	COMPLETED	Safety and Effectiveness of the Device Nit-Occlud® PDA-R
NCT01069510	PHASE2	COMPLETED	Spironolactone in Adult Congenital Heart Disease
NCT01189981	PHASE2	COMPLETED	Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease
NCT01330433	PHASE2	COMPLETED	Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery
NCT01662037	PHASE2	COMPLETED	Bosentan Therapy in Children With Functional Single Ventricle
NCT01668264	PHASE2	UNKNOWN	Imaging Assessment of Diastolic Function
NCT01827059	PHASE2	UNKNOWN	Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE