GATAD1

Summary

GATAD1 (GATA zinc finger domain containing 1, HGNC:29941) is a protein-coding gene on chromosome 7q21.2, encoding GATA zinc finger domain-containing protein 1 (Q8WUU5). Component of some chromatin complex recruited to chromatin sites methylated ‘Lys-4’ of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3).

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 57798 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial isolated dilated cardiomyopathy (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 692 total — 19 pathogenic, 39 likely-pathogenic
• Phenotypes (HPO): 17
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_021167

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29941
Approved symbol	GATAD1
Name	GATA zinc finger domain containing 1
Location	7q21.2
Locus type	gene with protein product
Status	Approved
Aliases	ODAG, RG083M05.2, FLJ22489
Ensembl gene	ENSG00000157259
Ensembl biotype	protein_coding
OMIM	614518
Entrez	57798

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 retained_intron, 1 protein_coding, 1 nonsense_mediated_decay

ENST00000287957, ENST00000465247, ENST00000493878, ENST00000644160, ENST00000645746

RefSeq mRNA: 1 — MANE Select: NM_021167 NM_021167

CCDS: CCDS5625

Canonical transcript exons

ENST00000287957 — 5 exons

Exon	Start	End
ENSE00001031497	92450701	92450760
ENSE00001086320	92448752	92448877
ENSE00001332676	92456372	92460075
ENSE00001388969	92447482	92447978
ENSE00003463934	92454502	92454685

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 94.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.6949 / max 379.9191, expressed in 1814 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79525	28.9648	1813
79524	0.4673	229
79523	0.2628	124

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	94.94	gold quality
right uterine tube	UBERON:0001302	94.66	gold quality
inferior vagus X ganglion	UBERON:0005363	94.50	gold quality
right ovary	UBERON:0002118	94.37	gold quality
endocervix	UBERON:0000458	94.12	gold quality
body of pancreas	UBERON:0001150	94.08	gold quality
endometrium epithelium	UBERON:0004811	93.81	gold quality
mucosa of stomach	UBERON:0001199	93.57	gold quality
subthalamic nucleus	UBERON:0001906	93.34	gold quality
body of uterus	UBERON:0009853	93.34	gold quality
corpus callosum	UBERON:0002336	93.11	gold quality
cardia of stomach	UBERON:0001162	92.81	gold quality
right lobe of thyroid gland	UBERON:0001119	92.72	gold quality
left lobe of thyroid gland	UBERON:0001120	92.72	gold quality
peripheral nervous system	UBERON:0000010	92.62	gold quality
tibial nerve	UBERON:0001323	92.62	gold quality
jejunal mucosa	UBERON:0000399	92.61	gold quality
superficial temporal artery	UBERON:0001614	92.56	gold quality
thyroid gland	UBERON:0002046	92.53	gold quality
lower lobe of lung	UBERON:0008949	92.45	gold quality
rectum	UBERON:0001052	92.30	gold quality
ovary	UBERON:0000992	92.22	gold quality
calcaneal tendon	UBERON:0003701	92.21	gold quality
fundus of stomach	UBERON:0001160	92.20	gold quality
ectocervix	UBERON:0012249	92.12	gold quality
bronchial epithelial cell	CL:0002328	92.04	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.82	gold quality
left uterine tube	UBERON:0001303	91.70	gold quality
renal medulla	UBERON:0000362	91.57	gold quality
lateral globus pallidus	UBERON:0002476	91.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

127 targeting GATAD1, 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-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-8063	99.91	69.76	3146

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

• GATAD1 mutation is associated with autosomal recessive dilated cardiomyopathy. (PMID:21965549)
• GATAD1 expression was significantly decreased in the third-trimester placentas associated with preeclampsia than those associated with normal pregnancy. (PMID:24462704)
• GATAD1 plays a pivotal oncogenic role in hepatocellular carcinoma by directly inducing PRL3 transcription to activate the Akt signaling pathway. GATAD1 may serve as an independent poor prognostic factor for hepatocellular carcinoma patients (PMID:29266303)
• CRISPR screen identifies GATAD1 as a synthetic lethal target with CDK4/6 inhibitors in estrogen receptor-positive breast cancer. (PMID:37567972)
• Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney. (PMID:38443846)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gatad1	ENSDARG00000027612
mus_musculus	Gatad1	ENSMUSG00000007415
rattus_norvegicus	Gatad1	ENSRNOG00000008613
drosophila_melanogaster	CG13367	FBGN0025634

Protein

Protein identifiers

GATA zinc finger domain-containing protein 1 — Q8WUU5 (reviewed: Q8WUU5)

Alternative names: Ocular development-associated gene protein

All UniProt accessions (2): Q8WUU5, A0A2R8Y4H1

UniProt curated annotations — full annotation on UniProt →

Function. Component of some chromatin complex recruited to chromatin sites methylated ‘Lys-4’ of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3).

Subunit / interactions. Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes.

Disease relevance. Cardiomyopathy, dilated, 2B (CMD2B) [MIM:614672] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_066990* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000679	Znf_GATA	Domain
IPR013088	Znf_NHR/GATA	Homologous_superfamily
IPR039050	GATAD1	Family

UniProt features (8 total): sequence variant 3, chain 1, zinc finger region 1, region of interest 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8Q1S	X-RAY DIFFRACTION	3.23

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUU5-F1	72.32	0.35

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): 262

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): ONKEN_UVEAL_MELANOMA_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, GOBP_CHROMATIN_REMODELING, GARY_CD5_TARGETS_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, STEIN_ESRRA_TARGETS_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, TIEN_INTESTINE_PROBIOTICS_24HR_DN, HIRSCH_CELLULAR_TRANSFORMATION_SIGNATURE_UP, LI_DCP2_BOUND_MRNA, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, JOHNSTONE_PARVB_TARGETS_3_UP, FORTSCHEGGER_PHF8_TARGETS_DN

GO Biological Process (3): chromatin organization (GO:0006325), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular component organization	1
chromatin organization	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transition metal ion binding	1
DNA binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

798 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GATAD1	KDM5A	P29375	700
GATAD1	PHF12	Q96QT6	699
GATAD1	EMSY	Q7Z589	525
GATAD1	RBM48	Q5RL73	506
GATAD1	CALR3	Q96L12	475
GATAD1	FAM133B	Q5BKY9	474
GATAD1	RBM20	Q5T481	469
GATAD1	KISS1R	Q969F8	433
GATAD1	MYPN	Q86TC9	433
GATAD1	TMEM101	Q96IK0	429
GATAD1	FKTN	O75072	411
GATAD1	SGCD	Q92629	404
GATAD1	MKRN3	Q13064	403
GATAD1	TMEM43	Q9BTV4	400
GATAD1	ANKIB1	Q9P2G1	399

IntAct

61 interactions, top by confidence:

A	B	Type	Score
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
MORF4L1	SIN3B	psi-mi:“MI:0914”(association)	0.730
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
KDM5A	SIN3B	psi-mi:“MI:0914”(association)	0.640
SIN3B	TNRC18	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
GATAD1	SIN3B	psi-mi:“MI:0914”(association)	0.530
RBBP7	EPOP	psi-mi:“MI:0914”(association)	0.530
GATAD1	H3-4	psi-mi:“MI:0915”(physical association)	0.400
SS18L1	GATAD1	psi-mi:“MI:0915”(physical association)	0.370
GATAD1	EPHA2	psi-mi:“MI:0915”(physical association)	0.370
GATAD1	ATXN1	psi-mi:“MI:0915”(physical association)	0.370
Rcc1	WDR46	psi-mi:“MI:0914”(association)	0.350
GATAD1	SIN3B	psi-mi:“MI:0914”(association)	0.350
Kdm5a	EMSY	psi-mi:“MI:0914”(association)	0.350
PHF12	SIN3B	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
MORF4L1	SIN3B	psi-mi:“MI:0914”(association)	0.350
MORF4L1	PHGDH	psi-mi:“MI:0914”(association)	0.350
LIN28A	MEX3A	psi-mi:“MI:0914”(association)	0.350
LIN28A	AGPS	psi-mi:“MI:0914”(association)	0.350

BioGRID (206): GATAD1 (Affinity Capture-RNA), GATAD1 (Affinity Capture-RNA), GATAD1 (Affinity Capture-RNA), GATAD1 (Affinity Capture-RNA), GATAD1 (Protein-peptide), C11orf30 (Affinity Capture-MS), PHF12 (Affinity Capture-MS), SIN3B (Affinity Capture-MS), MORF4L1 (Affinity Capture-MS), KDM5A (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), MORF4L2 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), RBBP7 (Affinity Capture-MS), GATAD1 (Affinity Capture-MS)

ESM2 similar proteins: A2AFR3, A2VDY6, O94967, P0C606, P79987, Q03353, Q03354, Q03355, Q14161, Q1L8G7, Q3UX43, Q4R8N2, Q4R8V9, Q50H33, Q58A45, Q5RDU9, Q5RED8, Q5TKA1, Q5VUG0, Q5ZL38, Q641K1, Q68CL5, Q6AXS8, Q6GR30, Q6PAJ1, Q6ZWB6, Q7SXV2, Q7ZXY4, Q8C5G2, Q8C735, Q8CB44, Q8CGF6, Q8IWR0, Q8K2D3, Q8N6S4, Q8QFX1, Q8VDD9, Q8WUU5, Q8WWQ0, Q8WXG6

Diamond homologs: A2VDY6, Q1L8G7, Q7ZXY4, Q8WUU5, Q920S3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 72 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
Transcriptional regulation by RUNX1	5	13.3×	2e-03
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	5	13.3×	2e-03
Formation of the beta-catenin:TCF transactivating complex	6	13.1×	8e-04
Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)	6	12.8×	8e-04
NuRD complex assembly	5	12.8×	2e-03
Interaction of NuRD complexes with transcription factors	5	11.5×	3e-03
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	5	10.9×	3e-03
Negative Regulation of CDH1 Gene Transcription	5	10.9×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of miRNA transcription	5	21.1×	3e-04
chromatin remodeling	9	9.5×	5e-05
transcription by RNA polymerase II	9	9.2×	5e-05
chromatin organization	6	8.6×	3e-03
brain development	7	8.1×	2e-03
positive regulation of gene expression	8	4.5×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	39
Uncertain significance	293
Likely benign	262
Benign	22

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069980	NM_000466.3(PEX1):c.3158dup (p.Asn1053fs)	Pathogenic
1197686	NM_000466.3(PEX1):c.3207+1G>A	Pathogenic
1252072	NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter)	Pathogenic
1415183	NM_000466.3(PEX1):c.2977dup (p.Leu993fs)	Pathogenic
167443	NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs)	Pathogenic
189002	NM_000466.3(PEX1):c.2926+2T>C	Pathogenic
2009222	NM_000466.3(PEX1):c.3767+2T>C	Pathogenic
2013179	NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)	Pathogenic
203390	NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)	Pathogenic
2115987	NM_000466.3(PEX1):c.3592del (p.Ala1198fs)	Pathogenic
217431	NM_000466.3(PEX1):c.3750G>A (p.Trp1250Ter)	Pathogenic
2682444	NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)	Pathogenic
2700719	NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)	Pathogenic
31656	NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro)	Pathogenic
4734313	NM_000466.3(PEX1):c.3248_3257del (p.Ser1083fs)	Pathogenic
528228	NC_000007.14:g.(?92489273)(92491522_?)del	Pathogenic
938252	NM_000466.3(PEX1):c.2926+1del	Pathogenic
942086	NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)	Pathogenic
970709	NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)	Pathogenic
1068038	NM_000466.3(PEX1):c.3637-3_3637-1del	Likely pathogenic
1324878	NM_000466.3(PEX1):c.3310_3311insGT (p.Leu1104fs)	Likely pathogenic
1509459	NM_000466.3(PEX1):c.3438+1G>A	Likely pathogenic
1696138	NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs)	Likely pathogenic
1724441	NM_000466.3(PEX1):c.3422del (p.Gly1141fs)	Likely pathogenic
1724945	NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)	Likely pathogenic
1724960	NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)	Likely pathogenic
1725277	NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)	Likely pathogenic
1725917	NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)	Likely pathogenic
1726360	NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)	Likely pathogenic
191221	NM_000466.3(PEX1):c.2894T>C (p.Leu965Pro)	Likely pathogenic

SpliceAI

984 predictions. Top by Δscore:

Variant	Effect	Δscore
7:92447796:G:GT	donor_gain	1.0000
7:92448849:G:GT	donor_gain	1.0000
7:92448875:AAT:A	donor_gain	1.0000
7:92448878:G:GG	donor_gain	1.0000
7:92450698:T:G	acceptor_gain	1.0000
7:92450699:A:AG	acceptor_gain	1.0000
7:92450700:G:GG	acceptor_gain	1.0000
7:92450700:GCCC:G	acceptor_gain	1.0000
7:92454499:CAGG:C	acceptor_loss	1.0000
7:92454500:A:G	acceptor_loss	1.0000
7:92454500:AG:A	acceptor_gain	1.0000
7:92454501:G:GA	acceptor_loss	1.0000
7:92454501:GG:G	acceptor_gain	1.0000
7:92454501:GGGA:G	acceptor_gain	1.0000
7:92454683:TAGG:T	donor_loss	1.0000
7:92454685:GGT:G	donor_loss	1.0000
7:92454686:GTA:G	donor_loss	1.0000
7:92454687:T:A	donor_loss	1.0000
7:92447789:G:GT	donor_gain	0.9900
7:92447797:G:T	donor_gain	0.9900
7:92447977:AGGTG:A	donor_loss	0.9900
7:92447978:GG:G	donor_loss	0.9900
7:92447979:G:GC	donor_loss	0.9900
7:92447980:T:A	donor_loss	0.9900
7:92448734:A:AG	acceptor_gain	0.9900
7:92448734:AATTT:A	acceptor_gain	0.9900
7:92448747:A:AG	acceptor_gain	0.9900
7:92448827:A:T	donor_gain	0.9900
7:92448843:G:GT	donor_gain	0.9900
7:92448844:A:T	donor_gain	0.9900

AlphaMissense

1734 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:92447754:T:C	C9R	1.000
7:92447756:C:G	C9W	1.000
7:92447787:T:A	W20R	1.000
7:92447787:T:C	W20R	1.000
7:92447789:G:C	W20C	1.000
7:92447789:G:T	W20C	1.000
7:92447817:T:C	C30R	1.000
7:92448771:G:C	R90T	1.000
7:92448771:G:T	R90M	1.000
7:92448772:G:C	R90S	1.000
7:92448772:G:T	R90S	1.000
7:92448774:G:T	R91M	1.000
7:92448775:G:C	R91S	1.000
7:92448775:G:T	R91S	1.000
7:92448849:G:A	G116E	1.000
7:92448852:G:C	R117T	1.000
7:92448852:G:T	R117I	1.000
7:92448853:A:C	R117S	1.000
7:92448853:A:T	R117S	1.000
7:92448855:G:C	R118T	1.000
7:92448855:G:T	R118I	1.000
7:92448856:A:C	R118S	1.000
7:92448856:A:T	R118S	1.000
7:92448861:T:A	I120K	1.000
7:92448866:A:G	K122E	1.000
7:92448868:A:C	K122N	1.000
7:92448868:A:T	K122N	1.000
7:92454521:G:T	G152V	1.000
7:92454527:T:A	V154D	1.000
7:92454530:T:A	V155D	1.000

dbSNP variants (sampled 300 via entrez): RS1000004415 (7:92486133 C>T), RS1000120260 (7:92462825 G>A), RS1000238385 (7:92449020 A>G), RS1000442831 (7:92474858 G>A), RS1000470399 (7:92457471 A>T), RS1000489446 (7:92462592 A>T), RS1000835892 (7:92481175 A>G,T), RS1000841075 (7:92457244 G>A), RS1000880209 (7:92475153 G>A), RS1001006189 (7:92487727 C>T), RS1001071059 (7:92485436 G>A), RS1001182771 (7:92473451 A>C), RS1001245402 (7:92493313 A>G,T), RS1001287347 (7:92460490 A>G), RS1001289335 (7:92481510 C>T)

Disease associations

OMIM: gene MIM:614518 | disease phenotypes: MIM:614672, MIM:214100, MIM:601539, MIM:234580, MIM:115195

GenCC curated gene-disease

Disease	Classification	Inheritance
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
dilated cardiomyopathy 2B	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
dilated cardiomyopathy 2B	Limited	AR

Mondo (11): dilated cardiomyopathy 2B (MONDO:0013848), Zellweger spectrum disorders (MONDO:0019609), peroxisome biogenesis disorder 1A (Zellweger) (MONDO:0008953), peroxisome biogenesis disorder 1B (MONDO:0011101), peroxisome biogenesis disorder (MONDO:0019234), peroxisome biogenesis disorder due to PEX1 defect (MONDO:0100259), optic atrophy (MONDO:0003608), hypertrophic cardiomyopathy 2 (MONDO:0007266), inherited retinal dystrophy (MONDO:0019118), microcephaly (MONDO:0001149), (MONDO:0015470)

Orphanet (7): Familial isolated dilated cardiomyopathy (Orphanet:154), Zellweger syndrome (Orphanet:912), Deafness-enamel hypoplasia-nail defects syndrome (Orphanet:3220), Neonatal adrenoleukodystrophy (Orphanet:44), Peroxisome biogenesis disorder (Orphanet:79189), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Infantile Refsum disease (Orphanet:772)

HPO phenotypes

17 total (19 of 17 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000969	Edema
HP:0001635	Congestive heart failure
HP:0001644	Dilated cardiomyopathy
HP:0001727	Thromboembolic stroke
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003596	Middle age onset
HP:0005110	Atrial fibrillation
HP:0011675	Arrhythmia
HP:0012378	Fatigue
HP:0012664	Reduced left ventricular ejection fraction
HP:0012764	Orthopnea
HP:0025169	Left ventricular systolic dysfunction
HP:0100578	Lipoatrophy
HP:0000556	Retinal dystrophy
HP:0000252	Microcephaly

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000175_12	Height	1.000000e-08

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658
D015211	Zellweger Syndrome	C06.552.970; C10.228.140.163.100.968; C12.050.351.968.419.978; C12.200.777.419.978; C12.950.419.978; C16.131.077.970; C16.320.565.189.968; C16.320.565.663.970; C18.452.132.100.968; C18.452.648.189.968; C18.452.648.663.970
C566171	Cardiomyopathy, Familial Hypertrophic, 2 (supp.)
C536664	Peroxisome biogenesis disorders (supp.)
C531857	Zellweger leukodystrophy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
geraniol	increases expression	1
trichostatin A	affects expression	1
tamibarotene	decreases expression	1
K 7174	increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Coumestrol	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Silicon Dioxide	decreases expression	1
Tretinoin	affects expression	1
Vitamin E	decreases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00007020	PHASE3	COMPLETED	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
NCT01838941	PHASE3	COMPLETED	Betaine and Peroxisome Biogenesis Disorders
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT03856866	PHASE2	COMPLETED	Hydroxychloroquine Administration for Reduction of Pexophagy
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT01064505	PHASE1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT00004442	Not specified	TERMINATED	Study of Bile Acids in Patients With Peroxisomal Disorders
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT01668186	Not specified	RECRUITING	Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
NCT03440905	Not specified	COMPLETED	Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders
NCT06190626	Not specified	RECRUITING	Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
NCT02882477	PHASE2/PHASE3	UNKNOWN	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
NCT01834079	PHASE1/PHASE2	UNKNOWN	Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease
NCT04680143	PHASE1/PHASE2	COMPLETED	Systemic Erythropoietin Injection in Patients Having Optic Atrophy
NCT03011541	Not specified	RECRUITING	Stem Cell Ophthalmology Treatment Study II
NCT04580979	Not specified	COMPLETED	Natural History Study of FDXR Mutation-related Mitochondriopathy
NCT04594590	Not specified	COMPLETED	Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
NCT04723160	Not specified	COMPLETED	Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph
NCT06390579	Not specified	COMPLETED	Building Research With Artificial Intelligence in Neuro-Ophthalmology
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer