RNF19A

Summary

RNF19A (ring finger protein 19A, RBR E3 ubiquitin protein ligase, HGNC:13432) is a protein-coding gene on chromosome 8q22.2, encoding E3 ubiquitin-protein ligase RNF19A (Q9NV58). E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR.

This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson’s disease. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 25897 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 85 total
• MANE Select transcript: NM_183419

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13432
Approved symbol	RNF19A
Name	ring finger protein 19A, RBR E3 ubiquitin protein ligase
Location	8q22.2
Locus type	gene with protein product
Status	Approved
Aliases	dorfin, DKFZp566B1346
Ensembl gene	ENSG00000034677
Ensembl biotype	protein_coding
OMIM	607119
Entrez	25897

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000341084, ENST00000432381, ENST00000517584, ENST00000519342, ENST00000519449, ENST00000519527, ENST00000520071, ENST00000520903, ENST00000522182, ENST00000522369, ENST00000523167, ENST00000523255, ENST00000523481, ENST00000523644, ENST00000524233, ENST00000905701, ENST00000905702, ENST00000905703, ENST00000905704

RefSeq mRNA: 5 — MANE Select: NM_183419 NM_001280539, NM_001353837, NM_001353838, NM_015435, NM_183419

CCDS: CCDS6286

Canonical transcript exons

ENST00000341084 — 10 exons

Exon	Start	End
ENSE00000980990	100287501	100288267
ENSE00000980991	100274953	100275161
ENSE00000980993	100268785	100268947
ENSE00001165651	100264034	100264195
ENSE00002090477	100309867	100309953
ENSE00002133690	100257067	100259246
ENSE00003526657	100259854	100259997
ENSE00003558322	100261542	100261755
ENSE00003653839	100269869	100270013
ENSE00003671584	100264671	100264785

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 98.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6713 / max 357.9947, expressed in 1797 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94132	14.7953	1769
94136	6.4256	1516
94131	2.8668	1063
94135	1.7403	756
94133	1.6652	1131
94134	0.5590	291
94130	0.2599	75
94126	0.2401	97
94139	0.0736	25
94140	0.0455	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.75	gold quality
sperm	CL:0000019	98.74	gold quality
colonic epithelium	UBERON:0000397	98.21	gold quality
tendon	UBERON:0000043	96.31	gold quality
right lung	UBERON:0002167	96.19	gold quality
endocervix	UBERON:0000458	96.06	gold quality
gall bladder	UBERON:0002110	95.82	gold quality
epithelium of nasopharynx	UBERON:0001951	95.59	gold quality
male germ cell	CL:0000015	95.56	gold quality
left uterine tube	UBERON:0001303	95.35	gold quality
tonsil	UBERON:0002372	95.31	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.14	gold quality
skin of hip	UBERON:0001554	95.13	gold quality
cauda epididymis	UBERON:0004360	94.87	gold quality
ectocervix	UBERON:0012249	94.71	gold quality
body of uterus	UBERON:0009853	94.68	gold quality
left testis	UBERON:0004533	94.58	gold quality
skin of abdomen	UBERON:0001416	94.51	gold quality
mucosa of stomach	UBERON:0001199	94.45	gold quality
small intestine	UBERON:0002108	94.45	gold quality
tendon of biceps brachii	UBERON:0008188	94.37	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.19	gold quality
testis	UBERON:0000473	94.18	gold quality
right testis	UBERON:0004534	94.18	gold quality
upper leg skin	UBERON:0004262	94.12	gold quality
right ovary	UBERON:0002118	94.10	gold quality
synovial joint	UBERON:0002217	94.08	gold quality
skin of leg	UBERON:0001511	94.07	gold quality
vagina	UBERON:0000996	94.03	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	697.41
E-CURD-46	yes	25.45
E-GEOD-106540	no	1930.19
E-HCAD-29	no	1233.13
E-MTAB-6678	no	597.45
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

139 targeting RNF19A, 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-8485	100.00	77.57	4731
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-9-5P	100.00	72.28	2361
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-767-5P	99.95	70.85	993

Literature-anchored findings (GeneRIF, showing 12)

• Dorfin has a role in ubiquitylating mutant SOD1 proteins and targeting them for proteasomal degradation (PMID:12145308)
• results suggest that synphilin-1 has an important role in the formation of aggregates and cytotoxicity in Parkinson disease and that Dorfin may be involved in the pathogenic process by ubiquitylation of synphilin-1 (PMID:12750386)
• These results suggest that Dorfin plays a crucial role in the formation of ubiquitylated inclusions of alpha-synucleinopathy and amyotrophic lateral sclerosis. (PMID:12875980)
• Reducing the accumulation of mutant superoxide dismutase 1 [SOD1] in the mitochondria may be a new therapeutic strategy for mutant SOD1-associated familial amyotrophic lateral sclerosis, and Dorfin may play a significant role in this (PMID:15030390)
• Valosin-containing protein functionally regulates Dorfin through direct interaction (PMID:15456787)
• Dorfin-CHIP(L) rescued neuronal cells from mutant SOD1-associated toxicity and reduced the aggresome formation induced by mutant SOD1 more effectively than did Dorfin(WT). (PMID:17157513)
• Findings suggest that RNF19 has acquired a new promoter and alternative exons via continuous retrotransposition. (PMID:18721867)
• A more than 2-fold higher level of RNF19A mRNA in the blood of patients with prostate cancer than in healthy controls makes it an early diagnosis marker for this disease. (PMID:22493721)
• Ring finger protein 19A is overexpressed in non-small cell lung cancer and mediates p53 ubiquitin-degradation to promote cancer growth. (PMID:34184814)
• RNF19A-mediated ubiquitination of BARD1 prevents BRCA1/BARD1-dependent homologous recombination. (PMID:34789768)
• CRISPR screening reveals gleason score and castration resistance related oncodriver ring finger protein 19 A (RNF19A) in prostate cancer. (PMID:36623445)
• LncRNA KCNQ10T1 shuttled by bone marrow mesenchymal stem cell-derived exosome inhibits sepsis via regulation of miR-154-3p/RNF19A axis. (PMID:37326687)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf19a	ENSDARG00000012040
mus_musculus	Rnf19a	ENSMUSG00000022280
mus_musculus	Gm65991	ENSMUSG00000121668
rattus_norvegicus	Rnf19a	ENSRNOG00000009658
caenorhabditis_elegans		WBGENE00015926
caenorhabditis_elegans		WBGENE00021721

Paralogs (9): ANKIB1 (ENSG00000001629), RNF14 (ENSG00000013561), RNF19B (ENSG00000116514), RNF144B (ENSG00000137393), RNF217 (ENSG00000146373), RNF144A (ENSG00000151692), ARIH1 (ENSG00000166233), ARIH2 (ENSG00000177479), PRKN (ENSG00000185345)

Protein

Protein identifiers

E3 ubiquitin-protein ligase RNF19A — Q9NV58 (reviewed: Q9NV58)

Alternative names: Double ring-finger protein, RING finger protein 19A, p38

All UniProt accessions (7): A0A0C4DGD6, A3KCU8, Q9NV58, E5RJH6, E7EQ63, E7EQV8, E7ETB2

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection.

Subunit / interactions. Interacts with UBE2L3 and UBE2L6. Interacts with transcription factor Sp1. Interacts with VCP, CASR, SNCAIP and with some SOD1 variants which cause amyotrophic lateral sclerosis, but not with wild-type SOD1.

Subcellular location. Membrane. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Tissue specificity. Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous system.

Domain organisation. Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the RBR family. RNF19 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NV58-1	1	yes
Q9NV58-2	2
Q9NV58-3	3

RefSeq proteins (5): NP_001267468, NP_001340766, NP_001340767, NP_056250, NP_904355* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR002867	IBR_dom	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR031127	E3_UB_ligase_RBR	Family
IPR044066	TRIAD_supradom	Domain

Pfam: PF01485, PF22191

UniProt features (49 total): binding site 24, region of interest 5, compositionally biased region 4, zinc finger region 3, splice variant 3, transmembrane region 2, mutagenesis site 2, sequence conflict 2, chain 1, active site 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NV58-F1	55.34	0.16

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 (1): 316

Ligand- & substrate-binding residues (24): 132; 135; 150; 152; 155; 158; 176; 179; 219; 224; 241; 246 …

Post-translational modifications (1): 631

Mutagenesis-validated functional residues (2):

Position	Phenotype
132	abolishes interaction with vcp and e3 ligase activity toward mutant sod1; when associated with s-135.
135	abolishes interaction with vcp and e3 ligase activity toward mutant sod1; when associated with s-132.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 358 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, TAL1ALPHAE47_01, GOCC_MICROTUBULE_ORGANIZING_CENTER, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, AAACCAC_MIR140, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (3): microtubule cytoskeleton organization (GO:0000226), ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567)

GO Molecular Function (7): zinc ion binding (GO:0008270), ubiquitin conjugating enzyme binding (GO:0031624), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (6): ubiquitin ligase complex (GO:0000151), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), membrane (GO:0016020), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoskeleton organization	1
microtubule-based process	1
protein ubiquitination	1
modification-dependent protein catabolic process	1
protein modification by small protein conjugation	1
transition metal ion binding	1
ubiquitin-like protein conjugating enzyme binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular protein-containing complex	1
transferase complex	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

808 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF19A	NLRP11	P59045	802
RNF19A	UCKL1	Q9NWZ5	695
RNF19A	UBE2L6	O14933	650
RNF19A	SNCAIP	Q9Y6H5	642
RNF19A	TUBG1	P23258	635
RNF19A	SOD1	P00441	571
RNF19A	UBE2K	P27924	545
RNF19A	PSMC3	P17980	529
RNF19A	UBE2S	Q16763	522
RNF19A	CCS	O14618	511
RNF19A	KIFAP3	Q92845	503
RNF19A	IFT74	Q96LB3	489
RNF19A	ATOX1	O00244	439
RNF19A	NEFM	P07197	436
RNF19A	NEFH	P12036	436

IntAct

20 interactions, top by confidence:

A	B	Type	Score
SOD1	RNF19A	psi-mi:“MI:0915”(physical association)	0.560
RNF19A	SP1	psi-mi:“MI:0915”(physical association)	0.400
SMAP	RNF19A	psi-mi:“MI:0915”(physical association)	0.370
ILK	RNF19A	psi-mi:“MI:0915”(physical association)	0.370
MAP3K7	RNF19A	psi-mi:“MI:0915”(physical association)	0.370
NUDT21	RNF19A	psi-mi:“MI:0915”(physical association)	0.370
RPS6KA5	RNF19A	psi-mi:“MI:0915”(physical association)	0.370
MAP3K20	RNF19A	psi-mi:“MI:0915”(physical association)	0.370
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
RNF149	CCDC85C	psi-mi:“MI:0914”(association)	0.350
DLK1	PLPP3	psi-mi:“MI:0914”(association)	0.350
TMEM169	PTGES3L-AARSD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (44): SNCAIP (Biochemical Activity), UBE2L3 (Reconstituted Complex), RNF19A (Reconstituted Complex), RNF19A (Reconstituted Complex), RNF19A (Affinity Capture-MS), RNF19A (Affinity Capture-MS), RNF19A (Affinity Capture-MS), RNF19A (Affinity Capture-MS), RNF19A (Affinity Capture-MS), RNF19A (Proximity Label-MS), UBE2L3 (Affinity Capture-Western), UBE2L6 (Affinity Capture-Western), RNF19A (Affinity Capture-MS), SOD1 (Affinity Capture-Western), RNF19A (Affinity Capture-Western)

ESM2 similar proteins: A2A7Q9, F1LXF1, O08873, O14795, O35274, O46606, P11274, P12755, P22681, P22682, P49797, P50636, Q08B84, Q0VGY8, Q1L8L6, Q2VJ60, Q3UR85, Q3YEC7, Q4KUS2, Q60698, Q62768, Q69ZT9, Q6PAJ1, Q6R891, Q6T4P5, Q6ZMZ0, Q6ZWB6, Q7TMB0, Q7TPB0, Q80U28, Q86YJ5, Q8HXH0, Q8NEL9, Q8TEK3, Q8WXG6, Q8WXH2, Q92622, Q92625, Q96SB3, Q9CXG9

Diamond homologs: A2A7Q9, O01965, P50636, Q08B84, Q1L8L6, Q2VJ60, Q54CX4, Q6ZMZ0, Q9NV58, Q9P3U4, Q9SKC3, Q5UQ35, Q8W468, A2VEA3, A4IIY1, B1H1E4, P0C8K8, P36113, Q1L8G6, Q32NS4, Q6NW85, Q6PFJ9, Q6T486, Q6ZPS6, Q84RR0, Q8BKD6, Q8L829, Q94981, Q9JI90, Q9LVW9, Q9P2G1, Q9SKC2, Q9SKC4, Q9UBS8, Q9Y4X5, Q9Z1K5, O76924, O95376, P50876, Q22431

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF19A	ubiquitination
RNF19A	“up-regulates quantity”	SNCAIP	ubiquitination
RNF19A	“down-regulates quantity by destabilization”	CASR	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1919 predictions. Top by Δscore:

Variant	Effect	Δscore
8:100259852:A:AC	donor_gain	1.0000
8:100259853:C:CC	donor_gain	1.0000
8:100261581:C:A	donor_gain	1.0000
8:100264786:C:CC	acceptor_gain	1.0000
8:100264787:T:C	acceptor_gain	1.0000
8:100264787:T:TC	acceptor_gain	1.0000
8:100264792:T:C	acceptor_gain	1.0000
8:100264792:T:TC	acceptor_gain	1.0000
8:100264807:G:C	acceptor_gain	1.0000
8:100268781:TTACC:T	donor_loss	1.0000
8:100268782:TAC:T	donor_loss	1.0000
8:100268783:A:AG	donor_loss	1.0000
8:100268784:C:A	donor_loss	1.0000
8:100268943:ATGGA:A	acceptor_gain	1.0000
8:100268944:TGGA:T	acceptor_gain	1.0000
8:100268945:GGA:G	acceptor_gain	1.0000
8:100268946:GA:G	acceptor_gain	1.0000
8:100268948:C:CC	acceptor_gain	1.0000
8:100268948:CTAA:C	acceptor_loss	1.0000
8:100268949:T:G	acceptor_loss	1.0000
8:100268952:C:CT	acceptor_gain	1.0000
8:100268953:G:T	acceptor_gain	1.0000
8:100270011:CAG:C	acceptor_gain	1.0000
8:100270014:C:CC	acceptor_gain	1.0000
8:100275163:T:TC	acceptor_gain	1.0000
8:100288268:C:CC	acceptor_gain	1.0000
8:100259242:CTTCT:C	acceptor_gain	0.9900
8:100259245:CT:C	acceptor_gain	0.9900
8:100259247:C:CC	acceptor_gain	0.9900
8:100259848:CCTTA:C	donor_loss	0.9900

AlphaMissense

5553 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:100264141:A:G	L454P	1.000
8:100264150:G:C	P451R	1.000
8:100264150:G:T	P451Q	1.000
8:100264153:A:T	V450D	1.000
8:100264159:C:T	G448D	1.000
8:100264160:C:G	G448R	1.000
8:100264165:A:T	V446D	1.000
8:100264169:A:G	Y445H	1.000
8:100264180:A:T	I441N	1.000
8:100264183:G:C	P440R	1.000
8:100264183:G:T	P440H	1.000
8:100264189:C:T	G438D	1.000
8:100264190:C:G	G438R	1.000
8:100264195:C:T	G436D	1.000
8:100264671:C:G	G436R	1.000
8:100264685:G:T	A431D	1.000
8:100264694:G:C	P428R	1.000
8:100264694:G:T	P428Q	1.000
8:100268792:C:T	G395D	1.000
8:100268793:C:G	G395R	1.000
8:100268804:G:C	P391R	1.000
8:100268804:G:T	P391H	1.000
8:100268810:C:T	G389D	1.000
8:100268811:C:G	G389R	1.000
8:100268822:G:T	A385E	1.000
8:100268825:G:C	P384R	1.000
8:100268825:G:T	P384H	1.000
8:100268831:G:T	A382D	1.000
8:100268840:G:T	A379D	1.000
8:100268855:C:T	G374E	1.000

dbSNP variants (sampled 300 via entrez): RS1000013412 (8:100329598 A>C), RS1000028193 (8:100322819 A>G), RS1000105600 (8:100281009 A>G), RS1000161459 (8:100305284 A>C,G), RS1000202932 (8:100261206 T>A,G), RS1000213299 (8:100286062 A>G), RS1000254527 (8:100327450 C>T), RS1000342528 (8:100310510 C>T), RS1000342916 (8:100267942 T>G), RS1000363043 (8:100316532 A>G), RS1000407908 (8:100320485 C>G,T), RS1000413486 (8:100266229 T>C,G), RS1000486259 (8:100320200 G>A), RS1000490199 (8:100279577 G>A), RS1000517335 (8:100290591 C>G,T)

Disease associations

OMIM: gene MIM:607119 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000852_4	Atrioventricular conduction	9.000000e-06
GCST002337_81	Amyotrophic lateral sclerosis (sporadic)	3.000000e-06
GCST005230_18	Recurrent major depressive disorder	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	4
sodium arsenite	increases expression, decreases expression, increases abundance	3
Arsenic	affects methylation, decreases expression, increases abundance	2
Calcitriol	increases expression, affects cotreatment	2
Valproic Acid	decreases methylation, affects expression	2
Cyclosporine	decreases expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	decreases expression	1
geraniol	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
torcetrapib	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, decreases expression	1
Leflunomide	increases expression	1
Amiodarone	increases expression	1
Vehicle Emissions	decreases expression, decreases reaction	1
Cadmium	increases abundance, increases expression	1

Clinical trials (associated diseases)

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