CFAP53

Summary

CFAP53 (cilia and flagella associated protein 53, HGNC:26530) is a protein-coding gene on chromosome 18q21.1, encoding Cilia- and flagella-associated protein 53 (Q96M91). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning.

Source: NCBI Gene 220136 — RefSeq curated summary.

At a glance

• Gene–disease (curated): heterotaxy, visceral, 6, autosomal (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 170 total — 3 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 12
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_145020

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26530
Approved symbol	CFAP53
Name	cilia and flagella associated protein 53
Location	18q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32743
Ensembl gene	ENSG00000172361
Ensembl biotype	protein_coding
OMIM	614759
Entrez	220136

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000398545, ENST00000880606

RefSeq mRNA: 1 — MANE Select: NM_145020 NM_145020

CCDS: CCDS11940

Canonical transcript exons

ENST00000398545 — 8 exons

Exon	Start	End
ENSE00001151929	50238603	50238705
ENSE00001151935	50242900	50243116
ENSE00001151942	50250758	50250976
ENSE00001151948	50251481	50251784
ENSE00001173180	50227193	50227609
ENSE00001699961	50261064	50261237
ENSE00001752706	50261990	50262219
ENSE00001758875	50266336	50266495

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 98.57.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5149 / max 110.0647, expressed in 690 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171945	1.3761	649
171944	0.1388	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.57	gold quality
bronchus	UBERON:0002185	97.14	gold quality
left testis	UBERON:0004533	95.80	gold quality
sperm	CL:0000019	95.51	gold quality
right uterine tube	UBERON:0001302	95.37	gold quality
right testis	UBERON:0004534	95.24	gold quality
testis	UBERON:0000473	93.16	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.01	gold quality
buccal mucosa cell	CL:0002336	90.27	gold quality
oviduct epithelium	UBERON:0004804	89.49	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.69	gold quality
epithelium of nasopharynx	UBERON:0001951	84.09	gold quality
fallopian tube	UBERON:0003889	83.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.67	gold quality
adult organism	UBERON:0007023	82.67	gold quality
caput epididymis	UBERON:0004358	79.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.42	gold quality
cerebellar hemisphere	UBERON:0002245	73.44	gold quality
cerebellar cortex	UBERON:0002129	73.26	gold quality
medial globus pallidus	UBERON:0002477	73.13	gold quality
right hemisphere of cerebellum	UBERON:0014890	72.23	gold quality
tendon of biceps brachii	UBERON:0008188	71.92	silver quality
cerebellum	UBERON:0002037	71.72	gold quality
gastrocnemius	UBERON:0001388	71.59	gold quality
caudate nucleus	UBERON:0001873	71.10	gold quality
islet of Langerhans	UBERON:0000006	71.09	gold quality
muscle of leg	UBERON:0001383	70.81	gold quality
adenohypophysis	UBERON:0002196	69.89	gold quality
hypothalamus	UBERON:0001898	69.26	gold quality
tendon	UBERON:0000043	69.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	62.46
E-GEOD-134144	yes	27.85
E-HCAD-1	yes	27.50
E-MTAB-10287	yes	27.09
E-GEOD-130148	yes	12.01
E-ANND-3	yes	11.39
E-MTAB-9388	yes	6.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting CFAP53, 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-3148	99.97	75.06	6478
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-1183	98.75	67.10	1116
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-4423-3P	97.98	69.66	912
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-4703-3P	96.68	68.61	545
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-5586-5P	96.29	68.02	685
HSA-MIR-4653-3P	96.26	67.03	725

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 4)

• The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member. (PMID:22577226)
• CCDC11 has a conserved essential function in cilia of the vertebrate left-right organizer during embryogenesis. (PMID:25504577)
• Cfap53 is a conserved regulator of organ laterality in both humans and zebrafish. (PMID:26531781)
• CCDC11 is a cilium-associated gene with a role in left-right patterning in Xenopus and in laterality disorders in humans (PMID:28621423)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Cilia- and flagella-associated protein 53 — Q96M91 (reviewed: Q96M91)

Alternative names: Coiled-coil domain-containing protein 11

All UniProt accessions (1): Q96M91

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Regulates motility patterns of both 9+0 and 9+2 motile cilia through differential localization and recruitment of axonemal dynein components. Required for centriolar satellite integrity and non-motile cilium assembly. Required for motile cilium formation. Through its role in the beating of primary cilia, involved in the establishment of organ laterality during embryogenesis. Required for sperm flagellum biogenesis and is essential for male fertility.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules. Interacts with PIERCE1 and PIERCE2; the interactions link outer dynein arms docking complex (ODA-DC) to the internal microtubule inner proteins (MIP) in cilium axoneme. Interacts with CCDC38. Interacts with CCDC42 and IFT88. Interacts with centriolar satellite proteins PIBF1/CEP90 and PCM1. Interacts with dyneins DNAIC1, DNAIC2 AND DNAH11 and with ODA-DC component ODAD4/TTC25.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme. Microtubule organizing center. Centrosome. Centriole. Centriolar satellite. Spindle pole. Cell projection. Cilium.

Tissue specificity. Expressed in skin fibroblasts (at protein level). Expressed in nasal respiratory epithelial cells (at protein level). Expressed in airway epithelial cells.

Disease relevance. Heterotaxy, visceral, 6, autosomal (HTX6) [MIM:614779] A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CFAP53 family.

RefSeq proteins (1): NP_659457* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR043596	CFAP53/TCHP	Family
IPR043597	TPH_dom	Domain

Pfam: PF13868

UniProt features (7 total): sequence variant 4, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96M91-F1	86.17	0.62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_SPECIFICATION_OF_SYMMETRY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOCC_CENTROSOME, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, RYTTCCTG_ETS2_B, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_SPINDLE

GO Biological Process (10): cilium movement (GO:0003341), determination of left/right symmetry (GO:0007368), flagellated sperm motility (GO:0030317), cilium assembly (GO:0060271), epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287), sperm flagellum assembly (GO:0120316), manchette assembly (GO:1905198), spermatogenesis (GO:0007283), cell projection organization (GO:0030030), cell differentiation (GO:0030154)

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

GO Cellular Component (16): spindle pole (GO:0000922), manchette (GO:0002177), extracellular region (GO:0005576), centriole (GO:0005814), axonemal microtubule (GO:0005879), cilium (GO:0005929), axoneme (GO:0005930), centriolar satellite (GO:0034451), ciliary transition zone (GO:0035869), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), motile cilium (GO:0031514), cell projection (GO:0042995), polymeric cytoskeletal fiber (GO:0099513)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	9
developmental process involved in reproduction	2
spermatid development	2
intracellular membraneless organelle	2
cytoskeleton	2
cilium	2
microtubule-based movement	1
determination of bilateral symmetry	1
left/right pattern formation	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
epithelial cilium movement involved in extracellular fluid movement	1
determination of left/right symmetry	1
flagellated sperm motility	1
motile cilium assembly	1
cellular component assembly	1
male gamete generation	1
cellular component organization	1
cellular developmental process	1
binding	1
spindle	1
microtubule cytoskeleton	1
microtubule organizing center	1
cytoplasmic microtubule	1
axoneme	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule	1
ciliary plasm	1
centrosome	1

Protein interactions and networks

STRING

1332 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP53	CFAP52	Q8N1V2	635
CFAP53	CFC1	P0CG37	535
CFAP53	PKD1L1	Q8TDX9	509
CFAP53	MMP21	Q8N119	501
CFAP53	ODAD1	Q96M63	470
CFAP53	GNGT1	P63211	467
CFAP53	PIERCE2	H3BRN8	456
CFAP53	MNS1	Q8NEH6	455
CFAP53	IQCF6	A8MYZ5	449
CFAP53	SHISA8	B8ZZ34	441
CFAP53	ODAD3	A5D8V7	438
CFAP53	RSPH6A	Q9H0K4	433
CFAP53	ZIC3	O60481	432
CFAP53	CCDC40	Q4G0X9	418
CFAP53	DNAH5	Q8TE73	413

IntAct

85 interactions, top by confidence:

A	B	Type	Score
CFAP53	CBY1	psi-mi:“MI:0915”(physical association)	0.680
CBY1	CFAP53	psi-mi:“MI:0915”(physical association)	0.680
CFAP53	TRIM23	psi-mi:“MI:0915”(physical association)	0.560
CFAP53	TNIP1	psi-mi:“MI:0915”(physical association)	0.560
PNMA1	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
CEP70	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
CFAP53	HMG20A	psi-mi:“MI:0915”(physical association)	0.560
CFAP53	CEP70	psi-mi:“MI:0915”(physical association)	0.560
HMG20A	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
CFAP53	PNMA1	psi-mi:“MI:0915”(physical association)	0.560
HIP1	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
KRT34	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
LDOC1	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
CFAP53	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
CCHCR1	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
KRT31	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
RABEP1	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
CCNC	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
TXLNA	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
CWF19L2	CFAP53	psi-mi:“MI:0915”(physical association)	0.560
TBC1D21	CFAP53	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (31): CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid), CFAP53 (Two-hybrid)

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUT1, A0JLY1, A4IJ21, A5A6J4, A8I9E8, A8IRJ7, A8IUG5, E1BJL9, F1N7G5, M0R3K6, M1V4Y8, O95990, Q0VC09, Q0VFZ6, Q17QH9, Q1RM03, Q2KI00, Q2KIQ2, Q32LH1, Q3TGF2, Q3TVW5, Q4R698, Q4R7T8, Q4R8Y5, Q5NVP3, Q5RE49, Q5U4F3, Q5XIN9, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q6ZN84, Q78TU8, Q8BRC6, Q8N443

Diamond homologs: A0A0R4IFG5, A0A974E306, A0AUT1, F1N7G5, Q96M91, Q9D439

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CFAP53	“up-regulates activity”	ODAD4	binding
CFAP53	“up-regulates activity”	DNAH5	binding
CFAP53	“up-regulates activity”	DNAH11	binding
CFAP53	“up-regulates activity”	Axonemal_Dynein	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	9
Uncertain significance	99
Likely benign	34
Benign	9

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1065350	NM_145020.5(CFAP53):c.778-2A>T	Pathogenic
208550	NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter)	Pathogenic
2914683	NM_145020.5(CFAP53):c.1004_1008del (p.Met335fs)	Pathogenic
1065355	NM_145020.5(CFAP53):c.777G>T (p.Val259=)	Likely pathogenic
2441724	NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter)	Likely pathogenic
3346932	NM_145020.5(CFAP53):c.286del (p.Glu96fs)	Likely pathogenic
37014	NM_145020.5(CFAP53):c.1213+1G>A	Likely pathogenic
3714503	NM_145020.5(CFAP53):c.474-2A>G	Likely pathogenic
3765586	NM_145020.5(CFAP53):c.1214-1G>A	Likely pathogenic
3779510	NM_145020.5(CFAP53):c.1144G>T (p.Glu382Ter)	Likely pathogenic
4748875	NM_145020.5(CFAP53):c.996+1G>C	Likely pathogenic
488411	NM_145020.5(CFAP53):c.301_473+1del	Likely pathogenic

SpliceAI

1423 predictions. Top by Δscore:

Variant	Effect	Δscore
18:50227618:T:C	acceptor_gain	1.0000
18:50227618:T:TC	acceptor_gain	1.0000
18:50227624:A:AC	acceptor_gain	1.0000
18:50227624:A:C	acceptor_gain	1.0000
18:50238597:TCATA:T	donor_loss	1.0000
18:50238598:CATAC:C	donor_loss	1.0000
18:50238599:ATAC:A	donor_loss	1.0000
18:50238600:TAC:T	donor_loss	1.0000
18:50238601:ACC:A	donor_loss	1.0000
18:50238602:C:A	donor_loss	1.0000
18:50238701:TTGCA:T	acceptor_gain	1.0000
18:50238702:TGCA:T	acceptor_gain	1.0000
18:50238703:GCA:G	acceptor_gain	1.0000
18:50238704:CA:C	acceptor_gain	1.0000
18:50238704:CAC:C	acceptor_gain	1.0000
18:50238705:AC:A	acceptor_loss	1.0000
18:50238706:C:CC	acceptor_gain	1.0000
18:50238706:C:CG	acceptor_loss	1.0000
18:50238707:T:G	acceptor_loss	1.0000
18:50242899:CA:C	donor_gain	1.0000
18:50243116:CCTA:C	acceptor_gain	1.0000
18:50250756:A:AC	donor_gain	1.0000
18:50250757:C:CC	donor_gain	1.0000
18:50250757:CT:C	donor_gain	1.0000
18:50250776:ATCTG:A	donor_gain	1.0000
18:50250786:T:TA	donor_gain	1.0000
18:50251494:T:TA	donor_gain	1.0000
18:50251500:T:TA	donor_gain	1.0000
18:50261988:A:AC	donor_gain	1.0000
18:50261989:C:CT	donor_gain	1.0000

AlphaMissense

3452 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:50261996:C:G	R98P	0.966
18:50251719:C:G	R180P	0.956
18:50261066:G:C	F157L	0.943
18:50261066:G:T	F157L	0.943
18:50261068:A:G	F157L	0.943
18:50251632:C:G	R209P	0.941
18:50251655:G:C	F201L	0.932
18:50251655:G:T	F201L	0.932
18:50251657:A:G	F201L	0.932
18:50261226:A:G	L104P	0.915
18:50242960:C:G	A385P	0.911
18:50261232:C:G	R102P	0.908
18:50227574:A:G	L451P	0.902
18:50266362:C:G	G15R	0.902
18:50261235:A:G	L101P	0.901
18:50251614:C:G	R215P	0.897
18:50262033:C:G	A86P	0.896
18:50261998:T:A	R97S	0.893
18:50261998:T:G	R97S	0.893
18:50242922:T:A	R397S	0.890
18:50242922:T:G	R397S	0.890
18:50251622:C:A	K212N	0.885
18:50251622:C:G	K212N	0.885
18:50227420:A:C	H502Q	0.881
18:50227420:A:T	H502Q	0.881
18:50261073:T:G	Q155P	0.877
18:50251645:A:G	W205R	0.858
18:50251645:A:T	W205R	0.858
18:50261214:T:A	E108V	0.855
18:50261079:A:G	L153P	0.854

dbSNP variants (sampled 300 via entrez): RS1000123690 (18:50235959 A>G), RS1000124255 (18:50266475 G>A), RS1000196224 (18:50234631 C>A), RS1000208323 (18:50247251 T>A), RS1000254892 (18:50247681 A>G), RS1000326252 (18:50235546 C>A), RS1000346989 (18:50265716 G>A), RS1000486994 (18:50241435 T>C), RS1000499096 (18:50235603 T>G), RS1000554682 (18:50239918 T>G), RS1000602425 (18:50230600 C>T), RS1000611006 (18:50245867 T>C), RS1000663241 (18:50234163 C>A,T), RS1000728049 (18:50233807 G>A), RS1000846978 (18:50260736 G>C)

Disease associations

OMIM: gene MIM:614759 | disease phenotypes: MIM:614779, MIM:241550

GenCC curated gene-disease

Disease	Classification	Inheritance
heterotaxy, visceral, 6, autosomal	Strong	Autosomal recessive
situs inversus	Supportive	Autosomal dominant

Mondo (4): heterotaxy, visceral, 6, autosomal (MONDO:0013887), dextrocardia (MONDO:0015661), hypoplastic left heart syndrome (MONDO:0004933), situs inversus (MONDO:0010029)

Orphanet (4): Visceral heterotaxy (Orphanet:450), Situs ambiguus (Orphanet:157769), Dextrocardia (Orphanet:1666), Hypoplastic left heart syndrome (Orphanet:2248)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001651	Dextrocardia
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0003363	Abdominal situs inversus
HP:0003577	Congenital onset
HP:0004383	Hypoplastic left ventricle
HP:0005160	Total anomalous pulmonary venous return
HP:0011565	Common atrium
HP:0011579	Unbalanced atrioventricular canal defect
HP:0012020	Right aortic arch

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009304_4	Degraded stimulus continuous performance test score	5.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007636	attention function measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D003914	Dextrocardia	C14.240.400.280; C14.280.400.280; C16.131.240.400.280; C16.131.810.250
D018636	Hypoplastic Left Heart Syndrome	C14.240.400.625; C14.280.400.625; C16.131.240.400.625
D012857	Situs Inversus	C16.131.810

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, increases methylation	2
Air Pollutants	increases abundance, increases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
ochratoxin A	decreases acetylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	increases reaction, affects binding	1
abrine	increases expression	1
PCI 5002	increases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cisplatin	decreases expression	1
Copper	decreases expression, affects binding	1
Disulfiram	affects binding, decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Tretinoin	increases expression	1
Zinc	affects cotreatment, increases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02781922	PHASE3	RECRUITING	Cardiac Stem/Progenitor Cell Infusion in Univentricular Physiology (APOLLON Trial)
NCT00507819	PHASE2	COMPLETED	Sildenafil After the Fontan Operation
NCT01292551	PHASE2	COMPLETED	Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology.
NCT01829750	PHASE2	COMPLETED	Cardiac Progenitor Cell Infusion to Treat Univentricular Heart Disease (PERSEUS)
NCT02080637	PHASE2	COMPLETED	Ambrisentan in Single Ventricle
NCT03779711	PHASE2	ACTIVE_NOT_RECRUITING	Intramyocardial Injection of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Repair of Hypoplastic Left Heart Syndrome
NCT04925024	PHASE2	ACTIVE_NOT_RECRUITING	Evaluation of Lomecel-B™ Injection in Patients With Hypoplastic Left Heart Syndrome (HLHS): A Phase IIb Clinical Trial.
NCT01273857	PHASE1	COMPLETED	Transcoronary Infusion of Cardiac Progenitor Cells in Patients With Single Ventricle Physiology
NCT01445041	PHASE1	TERMINATED	Safety and Feasibility Study of Umbilical Cord Blood Cells for Infants With Hypoplastic Left Heart Syndrome
NCT01883076	PHASE1	COMPLETED	Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome
NCT02398604	PHASE1	TERMINATED	Allogeneic hMSC Injection in Patients With Hypoplastic Left Heart Syndrome
NCT03406884	PHASE1	COMPLETED	The CHILD Trial: Hypoplastic Left Heart Syndrome Study.
NCT03431480	PHASE1	COMPLETED	Safety of Autologous Cord Blood Cells in HLHS Patients During Norwood Heart Surgery
NCT04181255	PHASE1	TERMINATED	Cold Heart Study: A Randomized Pilot Trial of Surfactant Therapy
NCT06461676	PHASE1	NOT_YET_RECRUITING	Study of Intramyocardial Injection of Ventrix Bio Extracellular Matrix (VentriGel) to Assess the Safety and Feasibility in Pediatric Patients with Hypoplastic Left Heart Syndrome (HLHS)
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00513240	PHASE1/PHASE2	COMPLETED	Erythropoetin Neuroprotection for Neonatal Cardiac Surgery
NCT03079401	PHASE1/PHASE2	UNKNOWN	Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle
NCT03136835	PHASE1/PHASE2	COMPLETED	Maternal Hyperoxygenation in Congenital Heart Disease
NCT03525418	PHASE1/PHASE2	UNKNOWN	Lomecel-B Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS)
NCT00156455	Not specified	WITHDRAWN	Sleep Disordered Breathing in Children With Single Ventricle Physiology
NCT00308217	Not specified	COMPLETED	Single Ventricle Outcome
NCT00464100	Not specified	COMPLETED	Near-infrared Spectroscopy (NIRS) Neurodevelopmental Outcomes
NCT00571233	Not specified	COMPLETED	Biomarker Study for Heart Failure in Children With Single Ventricle Physiology
NCT00734643	Not specified	COMPLETED	Family Adaptation Study Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn
NCT00860327	Not specified	TERMINATED	Examining Developmental Changes in Heart Contractions of Children With Congenital Heart Defects
NCT00974025	Not specified	COMPLETED	Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients
NCT01032876	Not specified	COMPLETED	Cerebral Perfusion During Neonatal Cardiac Surgery
NCT01107990	Not specified	TERMINATED	Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques
NCT01215240	Not specified	COMPLETED	Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure
NCT01582529	Not specified	COMPLETED	SVRII Family Factors Study
NCT01656941	Not specified	COMPLETED	Genetic Determinants of Congenital Heart Disease Outcomes
NCT01708863	Not specified	COMPLETED	A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation
NCT01736956	Not specified	COMPLETED	Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome
NCT01856049	Not specified	COMPLETED	Umbilical Cord Blood Collection and Processing for Hypoplastic Left Heart Syndrome Patients
NCT02184169	Not specified	COMPLETED	Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study)
NCT02306057	Not specified	COMPLETED	Fluid Balance in Children Undergoing Fontan Surgery
NCT02455713	Not specified	WITHDRAWN	Positive Pressure Ventilation and Sternal Closure in HLHS
NCT02462434	Not specified	COMPLETED	Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology
NCT02657629	Not specified	COMPLETED	Comparison of Feeding Strategies for Hypoplastic Left Heart Syndrome Infants