ECSIT

Summary

ECSIT (ECSIT signaling integrator, HGNC:29548) is a protein-coding gene on chromosome 19p13.2, encoding Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial (Q9BQ95). Adapter protein that plays a role in different signaling pathways including TLRs and IL-1 pathways or innate antiviral induction signaling.

Enables molecular adaptor activity. Involved in regulation of oxidoreductase activity; regulation of protein complex stability; and toll-like receptor 4 signaling pathway. Located in cytosol; mitochondrion; and nucleoplasm.

Source: NCBI Gene 51295 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_016581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29548
Approved symbol	ECSIT
Name	ECSIT signaling integrator
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	SITPEC
Ensembl gene	ENSG00000130159
Ensembl biotype	protein_coding
OMIM	608388
Entrez	51295

Gene structure

Transcript identifiers

Ensembl transcripts: 40 — 33 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000252440, ENST00000270517, ENST00000417981, ENST00000585318, ENST00000585898, ENST00000586149, ENST00000588998, ENST00000590480, ENST00000591104, ENST00000591352, ENST00000592312, ENST00000592571, ENST00000592665, ENST00000593231, ENST00000686541, ENST00000688351, ENST00000690346, ENST00000691430, ENST00000691750, ENST00000693263, ENST00000862938, ENST00000862939, ENST00000862940, ENST00000862941, ENST00000862942, ENST00000862943, ENST00000862944, ENST00000862945, ENST00000862946, ENST00000932974, ENST00000932975, ENST00000963472, ENST00000963473, ENST00000963474, ENST00000963475, ENST00000963476, ENST00000963477, ENST00000963478, ENST00000963479, ENST00000963480

RefSeq mRNA: 4 — MANE Select: NM_016581 NM_001142464, NM_001142465, NM_001243204, NM_016581

CCDS: CCDS12262, CCDS45979, CCDS45980, CCDS59353

Canonical transcript exons

ENST00000270517 — 8 exons

Exon	Start	End
ENSE00000679870	11513056	11513279
ENSE00001379383	11519075	11519193
ENSE00002698155	11505929	11506428
ENSE00002726159	11529062	11529134
ENSE00003470698	11507457	11507562
ENSE00003521356	11507991	11508048
ENSE00003576879	11513804	11514221
ENSE00003601746	11507702	11507850

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 98.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7950 / max 294.5485, expressed in 1816 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179248	26.3937	1816
179247	0.4013	199

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.76	gold quality
heart left ventricle	UBERON:0002084	96.89	gold quality
cardiac ventricle	UBERON:0002082	96.61	gold quality
gastrocnemius	UBERON:0001388	96.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.31	gold quality
right atrium auricular region	UBERON:0006631	96.06	gold quality
muscle of leg	UBERON:0001383	96.02	gold quality
cardiac atrium	UBERON:0002081	95.29	gold quality
mucosa of transverse colon	UBERON:0004991	95.05	gold quality
heart	UBERON:0000948	95.02	gold quality
body of stomach	UBERON:0001161	94.75	gold quality
cortical plate	UBERON:0005343	94.49	gold quality
right frontal lobe	UBERON:0002810	94.42	gold quality
muscle organ	UBERON:0001630	94.27	gold quality
body of pancreas	UBERON:0001150	94.25	gold quality
right lobe of liver	UBERON:0001114	94.16	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.00	gold quality
prefrontal cortex	UBERON:0000451	93.90	gold quality
anterior cingulate cortex	UBERON:0009835	93.89	gold quality
cingulate cortex	UBERON:0003027	93.84	gold quality
cerebellar hemisphere	UBERON:0002245	93.76	gold quality
cerebellar cortex	UBERON:0002129	93.73	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.70	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.44	gold quality
lower esophagus	UBERON:0013473	93.42	gold quality
left ovary	UBERON:0002119	93.23	gold quality
body of tongue	UBERON:0011876	93.20	gold quality
right adrenal gland	UBERON:0001233	93.19	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.89	gold quality
right adrenal gland cortex	UBERON:0035827	92.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting ECSIT, 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-4452	99.50	68.45	1493
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4718	98.55	68.61	814
HSA-MIR-7108-3P	94.37	64.79	183

Literature-anchored findings (GeneRIF, showing 12)

• Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1. (PMID:17344420)
• TRIM59 interacts with ECSIT as an adaptor protein required for the TLR-mediated transduction pathway. (PMID:22588174)
• mediates virus-triggered type I IFN induction by bridging RIG-I and MDA5 to the VISA complex (PMID:25228397)
• Ubiquitination of ECSIT might have a role in the regulation of NF-kappaB activity in TLR4 signaling. (PMID:25355951)
• Data show that the ECSIT (evolutionarily conserved signaling intermediate in Toll pathways) complex, including MEKK7 (TAK1) and TNF receptor-associated factor 6 (TRAF6), plays a role in Toll-like receptor 4 -mediated signals to activate NF-kappa B. (PMID:25371197)
• Authors conclude that ECSIT appears to be a novel Hepatitis B virus X protein-interacting signal molecule and their interaction is mechanistically important in IL-1beta induction of NF-kappaB activation. (PMID:25449573)
• We added thalidomide to the conventional dexamethasone-containing therapy regimen for two patients with HPS who expressed ECSIT-V140A, and we observed reversal of their HPS and disease-free survival for longer than 3 years. These findings provide mechanistic insights and a potential therapeutic strategy for extranodal natural killer/T cell lymphoma-associated Hemophagocytic syndrome. (PMID:29291352)
• CRBN Is a Negative Regulator of Bactericidal Activity and Autophagy Activation Through Inhibiting the Ubiquitination of ECSIT and BECN1. (PMID:31620128)
• No association between ECSIT germline mutations and hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma. (PMID:33054138)
• ECSIT is a critical limiting factor for cardiac function. (PMID:34032637)
• ECSIT Is a Critical Factor for Controlling Intestinal Homeostasis and Tumorigenesis through Regulating the Translation of YAP Protein. (PMID:37409430)
• ECSIT facilitates memory CD8[+] T cell development by mediating fumarate synthesis during viral infection and tumorigenesis. (PMID:38326554)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ecsit	ENSDARG00000062834
mus_musculus	Ecsit	ENSMUSG00000066839
rattus_norvegicus	Ecsit	ENSRNOG00000014128
drosophila_melanogaster	ECSIT	FBGN0028436
caenorhabditis_elegans		WBGENE00021202

Protein

Protein identifiers

Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial — Q9BQ95 (reviewed: Q9BQ95)

Alternative names: Protein SITPEC

All UniProt accessions (10): Q9BQ95, A0A8I5KR62, J3KTF5, K7EIK2, K7EJG5, K7EJI1, K7EM98, K7EN32, K7EPL5, K7ESM8

UniProt curated annotations — full annotation on UniProt →

Function. Adapter protein that plays a role in different signaling pathways including TLRs and IL-1 pathways or innate antiviral induction signaling. Plays a role in the activation of NF-kappa-B by forming a signal complex with TRAF6 and TAK1/MAP3K7 to activate TAK1/MAP3K7 leading to activation of IKKs. Once ubiquitinated, interacts with the dissociated RELA and NFKB1 proteins and translocates to the nucleus where it induces NF-kappa-B-dependent gene expression. Plays a role in innate antiviral immune response by bridging the pattern recognition receptors RIGI and MDA5/IFIT1 to the MAVS complex at the mitochondrion. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development. As part of the MCIA complex, involved in the assembly of the mitochondrial complex I.

Subunit / interactions. Interacts with MAP3K1, SMAD4 and TRAF6. Interacts with SMAD1 only after BMP4-treatment. Part of the mitochondrial complex I assembly/MCIA complex that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186. Interacts with NDUFAF1. Interacts with ACAD9. Interacts with TRIM59. Interacts with TMEM70 and TMEM242. Interacts (when ubiquitinated) with NF-kappa-B subunits RELA and NFKB1. Interacts with RIGI, IFIT1 and MAVS; these interactions promote RLR-mediated type I IFN induction. Interacts with SQSTM1; this interaction inhibits TLR4 signaling via functional regulation of the TRAF6-ECSIT complex. Interacts with cereblon/CRBN; this interaction inhibits the ubiquitination of ECSIT.

Subcellular location. Cytoplasm. Nucleus. Mitochondrion.

Post-translational modifications. Ubiquitinated on Lys-372; leading to translocation in the nucleus together with RELA and NFKB1 and expression of NF-kappa-B-dependent genes.

Similarity. Belongs to the ECSIT family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BQ95-1	1	yes
Q9BQ95-2	2
Q9BQ95-3	3
Q9BQ95-4	4

RefSeq proteins (4): NP_001135936, NP_001135937, NP_001230133, NP_057665* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010418	ECSIT	Family
IPR029342	ECIST_C	Domain
IPR046448	ECSIT_N	Domain

Pfam: PF06239, PF14784

UniProt features (12 total): splice variant 4, sequence variant 2, transit peptide 1, chain 1, mutagenesis site 1, sequence conflict 1, region of interest 1, cross-link 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8PHE	ELECTRON MICROSCOPY	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQ95-F1	72.35	0.37

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): 372

Mutagenesis-validated functional residues (1):

Position	Phenotype
372	complete loss of interaction with rela and nfkb1 together with loss of nf-kappa-b-dependent gene expression.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-166058	MyD88:MAL(TIRAP) cascade initiated on plasma membrane
R-HSA-6799198	Complex I biogenesis
R-HSA-975138	TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975871	MyD88 cascade initiated on plasma membrane

MSigDB gene sets: 141 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, REACTOME_INNATE_IMMUNE_SYSTEM, KEGG_MAPK_SIGNALING_PATHWAY, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_DEFENSE_RESPONSE

GO Biological Process (8): cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178), mitochondrial respiratory chain complex I assembly (GO:0032981), toll-like receptor 4 signaling pathway (GO:0034142), innate immune response (GO:0045087), regulation of oxidoreductase activity (GO:0051341), regulation of protein complex stability (GO:0061635), immune system process (GO:0002376), non-canonical NF-kappaB signal transduction (GO:0038061)

GO Molecular Function (3): enzyme inhibitor activity (GO:0004857), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Toll Like Receptor 4 (TLR4) Cascade	1
Toll Like Receptor TLR1:TLR2 Cascade	1
Toll Like Receptor TLR6:TLR2 Cascade	1
Respiratory electron transport	1
MyD88 dependent cascade initiated on endosome	1
Toll Like Receptor 10 (TLR10) Cascade	1
Toll Like Receptor 5 (TLR5) Cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
intracellular membrane-bounded organelle	2
cytoplasm	2
enzyme-linked receptor protein signaling pathway	1
NADH dehydrogenase complex assembly	1
mitochondrial respiratory chain complex assembly	1
cell surface toll-like receptor signaling pathway	1
immune response	1
defense response to symbiont	1
oxidoreductase activity	1
regulation of catalytic activity	1
regulation of biological quality	1
biological_process	1
intracellular signaling cassette	1
catalytic activity	1
enzyme regulator activity	1
molecular function inhibitor activity	1
molecular_function	1
nuclear lumen	1
intracellular anatomical structure	1
organelle inner membrane	1
mitochondrial membrane	1

Protein interactions and networks

STRING

1718 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ECSIT	NDUFAF1	Q9Y375	998
ECSIT	TRAF6	Q9Y4K3	996
ECSIT	ACAD9	Q9H845	989
ECSIT	TMEM126B	Q8IUX1	979
ECSIT	TRIM59	Q8IWR1	943
ECSIT	TIMMDC1	Q9NPL8	807
ECSIT	TMEM186	Q96B77	794
ECSIT	FOXRED1	Q96CU9	760
ECSIT	IFIH1	Q9BYX4	703
ECSIT	TLR4	O00206	630
ECSIT	TOLLIP	Q9H0E2	617
ECSIT	MAP3K1	Q13233	599
ECSIT	MT-ND2	P03891	598
ECSIT	GCDH	Q92947	587
ECSIT	NDUFAF4	Q9P032	565

IntAct

225 interactions, top by confidence:

A	B	Type	Score
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
NDUFAF1	NDUFS3	psi-mi:“MI:0914”(association)	0.790
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
TIMMDC1	ECSIT	psi-mi:“MI:0914”(association)	0.730
PPP2R2D	YEATS4	psi-mi:“MI:0914”(association)	0.730
ATP6V1C2	ATP6V1G1	psi-mi:“MI:0914”(association)	0.640
FAM136A	RBFOX3	psi-mi:“MI:0914”(association)	0.640
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
ASPH	STXBP3	psi-mi:“MI:0914”(association)	0.640
NDUFA13	NDUFS8	psi-mi:“MI:0914”(association)	0.640
NDUFB5	NDUFB3	psi-mi:“MI:0914”(association)	0.640
NDUFS7	NDUFS8	psi-mi:“MI:0914”(association)	0.640
NDUFAF4	NDUFS8	psi-mi:“MI:0914”(association)	0.640
PPP2R2B	MYO9A	psi-mi:“MI:0914”(association)	0.640
ECSIT	PSEN1	psi-mi:“MI:0407”(direct interaction)	0.580
PSEN1	ECSIT	psi-mi:“MI:0914”(association)	0.580

BioGRID (356): RELA (Affinity Capture-Western), NFKB1 (Affinity Capture-Western), ECSIT (Affinity Capture-Western), ECSIT (Affinity Capture-Western), RELA (Reconstituted Complex), NFKB1 (Reconstituted Complex), MAP3K7 (Affinity Capture-Western), ECSIT (Affinity Capture-Western), ECSIT (Affinity Capture-MS), ECSIT (Affinity Capture-MS), ECSIT (Affinity Capture-MS), ECSIT (Affinity Capture-MS), ECSIT (Affinity Capture-MS), NDUFB1 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS)

ESM2 similar proteins: A0PJW6, A5PJW2, B3DI94, B5DFG1, O00411, O95382, P49753, Q059A4, Q0V9C9, Q3SX05, Q4KLZ1, Q4KM93, Q4R5Q4, Q4VAE3, Q53S58, Q5EA71, Q5T1A1, Q5XIC2, Q643R3, Q66LN0, Q6DC58, Q6NVG1, Q76MJ5, Q7YS91, Q80YU0, Q863F8, Q8BPE4, Q8BWM0, Q8N159, Q8NFF5, Q8VCA6, Q8VD26, Q921N7, Q96AN5, Q96KR6, Q99MQ3, Q9BQ95, Q9BUB7, Q9BYK8, Q9CQE2

Diamond homologs: A2VD95, Q08CK1, Q0V9C9, Q3SX05, Q4R5Q4, Q5XIC2, Q9BQ95, Q9QZH6, Q9U6M0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
TRIM59	“down-regulates activity”	ECSIT	binding
ECSIT	“up-regulates activity”	MAVS	binding
TRAF6	“down-regulates activity”	ECSIT	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 183 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
Complex I biogenesis	19	25.6×	2e-19
Respiratory electron transport	17	13.2×	3e-12
Aerobic respiration and respiratory electron transport	17	12.2×	7e-12
Class A/1 (Rhodopsin-like receptors)	11	6.6×	1e-04
GPCR ligand binding	11	5.7×	4e-04
Signaling by GPCR	12	3.9×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial respiratory chain complex I assembly	14	33.9×	2e-15
mitochondrial electron transport, NADH to ubiquinone	11	23.2×	5e-10
proton motive force-driven mitochondrial ATP synthesis	12	18.6×	6e-10
aerobic respiration	12	17.5×	9e-10
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	8	10.3×	2e-04
phospholipase C-activating G protein-coupled receptor signaling pathway	9	7.0×	1e-03
positive regulation of cytosolic calcium ion concentration	9	6.2×	2e-03
G protein-coupled receptor signaling pathway	16	3.4×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1439 predictions. Top by Δscore:

Variant	Effect	Δscore
19:11506424:CTCCA:C	acceptor_gain	1.0000
19:11506426:CCA:C	acceptor_gain	1.0000
19:11506427:CA:C	acceptor_gain	1.0000
19:11506427:CAC:C	acceptor_gain	1.0000
19:11506428:AC:A	acceptor_loss	1.0000
19:11506429:C:CC	acceptor_gain	1.0000
19:11506429:C:CG	acceptor_loss	1.0000
19:11507452:TTTA:T	donor_loss	1.0000
19:11507455:ACCT:A	donor_loss	1.0000
19:11507456:CCT:C	donor_loss	1.0000
19:11507559:CTTC:C	acceptor_gain	1.0000
19:11507569:C:CT	acceptor_gain	1.0000
19:11507570:A:T	acceptor_gain	1.0000
19:11507573:G:C	acceptor_gain	1.0000
19:11507573:G:GC	acceptor_gain	1.0000
19:11507580:G:GC	acceptor_gain	1.0000
19:11507986:CTTA:C	donor_loss	1.0000
19:11507989:A:AT	donor_loss	1.0000
19:11507990:C:A	donor_loss	1.0000
19:11513051:GATAC:G	donor_loss	1.0000
19:11513052:ATACC:A	donor_loss	1.0000
19:11513053:TACCT:T	donor_loss	1.0000
19:11513054:ACC:A	donor_loss	1.0000
19:11513055:CCTG:C	donor_loss	1.0000
19:11513313:A:AC	acceptor_gain	1.0000
19:11513313:A:C	acceptor_gain	1.0000
19:11513798:CCTCA:C	donor_loss	1.0000
19:11513799:CTCAC:C	donor_loss	1.0000
19:11513800:TCACC:T	donor_loss	1.0000
19:11513802:ACC:A	donor_loss	1.0000

AlphaMissense

2822 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:11506363:A:G	W373R	0.997
19:11506363:A:T	W373R	0.997
19:11507787:A:T	V287D	0.994
19:11513233:A:C	F187L	0.993
19:11513233:A:T	F187L	0.993
19:11513235:A:G	F187L	0.993
19:11513827:A:T	V164D	0.993
19:11506361:C:A	W373C	0.991
19:11506361:C:G	W373C	0.991
19:11513221:G:C	S191R	0.990
19:11513221:G:T	S191R	0.990
19:11513223:T:G	S191R	0.990
19:11513980:G:T	A113D	0.990
19:11513837:C:A	G161W	0.988
19:11507782:C:G	G289R	0.986
19:11514052:A:G	F89S	0.986
19:11506362:C:G	W373S	0.985
19:11506408:C:G	A358P	0.985
19:11513836:C:T	G161E	0.985
19:11513815:A:G	M168T	0.984
19:11513923:A:G	L132P	0.984
19:11514051:G:C	F89L	0.984
19:11514051:G:T	F89L	0.984
19:11514053:A:G	F89L	0.984
19:11513216:G:T	P193H	0.983
19:11506407:G:T	A358D	0.982
19:11507733:A:T	L305H	0.982
19:11507793:A:T	V285D	0.982
19:11513231:C:A	G188V	0.982
19:11513824:A:G	L165P	0.982

dbSNP variants (sampled 300 via entrez): RS1000060694 (19:11529041 G>C), RS1000273613 (19:11512258 T>G), RS1000294178 (19:11505624 ACTT>A), RS1000478759 (19:11505675 G>T), RS1000495846 (19:11528846 T>A,C), RS1000596259 (19:11510732 A>C), RS1000899326 (19:11526871 C>T), RS1000915174 (19:11522606 C>G), RS1000960810 (19:11510497 G>A), RS1001023193 (19:11521078 T>G), RS1001164045 (19:11516514 G>A), RS1001259892 (19:11516314 T>A), RS1001267097 (19:11510540 A>C,T), RS1001326232 (19:11513811 C>G,T), RS1001546259 (19:11527951 C>T)

Disease associations

OMIM: gene MIM:608388 | 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
GCST003563_11	Presence of antiphospholipid antibodies	3.000000e-06
GCST003563_12	Presence of antiphospholipid antibodies	4.000000e-06
GCST003563_6	Presence of antiphospholipid antibodies	5.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
manganese chloride	increases abundance, increases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	increases reaction, affects binding	1
obeticholic acid	decreases expression	1
abrine	increases expression	1
MK-8776	increases expression	1
(+)-JQ1 compound	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cisplatin	decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression	1
Phthalic Acids	increases methylation	1
Rotenone	decreases expression	1
Selenium	affects cotreatment, increases expression	1
Selenomethionine	affects expression	1
Smoke	decreases expression	1
Vitamin E	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1

Clinical trials (associated diseases)

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