N4BP1

Summary

N4BP1 (NEDD4 binding protein 1, HGNC:29850) is a protein-coding gene on chromosome 16q12.1, encoding NEDD4-binding protein 1 (O75113). Potent suppressor of cytokine production that acts as a regulator of innate immune signaling and inflammation.

Enables RNA nuclease activity; mRNA binding activity; and ubiquitin binding activity. Involved in cellular response to UV and negative regulation of viral genome replication. Predicted to be located in cytosol and nucleolus. Predicted to be active in PML body.

Source: NCBI Gene 9683 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 101 total
• MANE Select transcript: NM_153029

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29850
Approved symbol	N4BP1
Name	NEDD4 binding protein 1
Location	16q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000102921
Ensembl biotype	protein_coding
OMIM	619138
Entrez	9683

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000262384, ENST00000564124, ENST00000564710, ENST00000565423, ENST00000565638, ENST00000569027, ENST00000934852, ENST00000934853, ENST00000962630, ENST00000962631

RefSeq mRNA: 1 — MANE Select: NM_153029 NM_153029

CCDS: CCDS45479

Canonical transcript exons

ENST00000262384 — 7 exons

Exon	Start	End
ENSE00000682947	48546147	48546254
ENSE00001100248	48538726	48543261
ENSE00001231868	48609775	48610180
ENSE00003479332	48551386	48551482
ENSE00003483755	48560754	48562444
ENSE00003542570	48553539	48553669
ENSE00003544506	48548007	48548114

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 96.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1868 / max 1224.4952, expressed in 1767 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157269	12.0707	1754
157266	1.1445	404
157267	0.5715	271
157268	0.4001	153

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	96.50	gold quality
esophagus squamous epithelium	UBERON:0006920	96.15	gold quality
lower esophagus mucosa	UBERON:0035834	95.72	gold quality
blood	UBERON:0000178	95.66	gold quality
pancreatic ductal cell	CL:0002079	94.67	gold quality
epithelium of esophagus	UBERON:0001976	94.67	gold quality
squamous epithelium	UBERON:0006914	94.57	gold quality
tibialis anterior	UBERON:0001385	94.31	gold quality
ileal mucosa	UBERON:0000331	94.16	gold quality
esophagus mucosa	UBERON:0002469	93.85	gold quality
secondary oocyte	CL:0000655	93.68	gold quality
gingival epithelium	UBERON:0001949	92.85	gold quality
oral cavity	UBERON:0000167	92.80	gold quality
colonic epithelium	UBERON:0000397	92.74	gold quality
skin of abdomen	UBERON:0001416	92.65	gold quality
skin of leg	UBERON:0001511	92.36	gold quality
gingiva	UBERON:0001828	92.26	gold quality
cervix squamous epithelium	UBERON:0006922	92.25	gold quality
tonsil	UBERON:0002372	92.21	gold quality
upper lobe of left lung	UBERON:0008952	91.85	gold quality
zone of skin	UBERON:0000014	91.72	gold quality
upper lobe of lung	UBERON:0008948	91.51	gold quality
ectocervix	UBERON:0012249	91.44	gold quality
leukocyte	CL:0000738	91.27	gold quality
monocyte	CL:0000576	91.16	gold quality
ventricular zone	UBERON:0003053	91.11	gold quality
granulocyte	CL:0000094	91.09	gold quality
mononuclear cell	CL:0000842	91.08	gold quality
palpebral conjunctiva	UBERON:0001812	90.87	gold quality
vagina	UBERON:0000996	90.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.27

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• The p34 interacts with the WW1 domain of NEDD4-1, an interaction that enhances NEDD4-1 stability. (PMID:24141722)
• NEDD4-binding protein 1 (N4BP1) is a interferon-inducible inhibitor of HIV-1 in primary T cells and macrophages. N4BP1 harbours a prototypical PilT N terminus-like RNase domain and inhibits HIV-1 replication by interacting with and degrading viral mRNA species. Following activation of CD4(+) T cells, MALT lymphoma associated translocation protein cleaves N4BP1 and facilitates the reactivation of latent HIV-1 proviruses. (PMID:31133753)
• Integration of innate immune signalling by caspase-8 cleavage of N4BP1. (PMID:32971525)
• CircN4bp1 Facilitates Sepsis-Induced Acute Respiratory Distress Syndrome through Mediating Macrophage Polarization via the miR-138-5p/EZH2 Axis. (PMID:35002536)
• N4BP1 regulates keratinocytes development and plays protective role in burn- and adhesive-related skin injury via MMP9. (PMID:37579928)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	n4bp1	ENSDARG00000057491
mus_musculus	N4bp1	ENSMUSG00000031652
rattus_norvegicus	N4bp1	ENSRNOG00000015121
drosophila_melanogaster	Regnase-1	FBGN0038769
drosophila_melanogaster	CG42360	FBGN0259742
caenorhabditis_elegans		WBGENE00013107
caenorhabditis_elegans	rege-1	WBGENE00016260
caenorhabditis_elegans		WBGENE00021287
caenorhabditis_elegans		WBGENE00021998
caenorhabditis_elegans		WBGENE00022003

Paralogs (6): KHNYN (ENSG00000100441), ZC3H12B (ENSG00000102053), ZC3H12C (ENSG00000149289), ZC3H12A (ENSG00000163874), ZC3H12D (ENSG00000178199), NYNRIN (ENSG00000205978)

Protein

Protein identifiers

NEDD4-binding protein 1 — O75113 (reviewed: O75113)

All UniProt accessions (2): O75113, I3L3R7

UniProt curated annotations — full annotation on UniProt →

Function. Potent suppressor of cytokine production that acts as a regulator of innate immune signaling and inflammation. Acts as a key negative regulator of select cytokine and chemokine responses elicited by TRIF-independent Toll-like receptors (TLRs), thereby limiting inflammatory cytokine responses to minor insults. In response to more threatening pathogens, cleaved by CASP8 downstream of TLR3 or TLR4, leading to its inactivation, thereby allowing production of inflammatory cytokines. Acts as a restriction factor against some viruses, such as HIV-1: restricts HIV-1 replication by binding to HIV-1 mRNAs and mediating their degradation via its ribonuclease activity. Also acts as an inhibitor of the E3 ubiquitin-protein ligase ITCH: acts by interacting with the second WW domain of ITCH, leading to compete with ITCH’s substrates and impairing ubiquitination of substrates.

Subunit / interactions. Interacts with NEDD4. Interacts with ITCH (via WW domain 2).

Subcellular location. Cytoplasm. Cytosol. Nucleus. Nucleolus. PML body.

Tissue specificity. Detected in heart, lung, brain, liver, skeletal muscle, pancreas, kidney, spleen, testis and ovary.

Post-translational modifications. Proteolytically cleaved by CASP8 downstream of TLR3 or TLR4, leading to its inactivation. Mainly cleaved at Asp-490 by CASP8. Cleaved by caspase-like protein MALT1 in T-cells following TCR-mediated activation, leading to its inactivation and subsequent viral reactivation during HIV-1 infection. Mono- and polyubiquitinated on the CoCUN region. Monoubiquitinated by NEDD4. Polyubiquitinated, leading to its degradation by the proteasome. Sumoylated with SUMO1, abrogating polyubiquitination and subsequent degradation. Desumoylated by SENP1, leading to accumulation in PML nuclear bodies.

Activity regulation. Proteolytic cleavage by CASP8 or MALT1 leads to its inactivation.

Domain organisation. The CoCUN region mediates binding to ubiquitin. Does not interact with NEDD8.

Induction. Up-regulated in response to interferon alpha (IFN-alpha) stimulation (at protein level).

Similarity. Belongs to the N4BP1 family.

RefSeq proteins (1): NP_694574* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021869	RNase_Zc3h12_NYN	Domain
IPR051101	ZC3H12/N4BP1_RNase_Reg	Family
IPR056578	UBA_N4BP1_C	Domain
IPR056629	KH_N4BP1_1st	Domain
IPR056630	KH_N4BP1_2nd	Domain
IPR056631	UBA_N4BP1	Domain

Pfam: PF11977, PF23050, PF23052, PF23053, PF23054

UniProt features (41 total): helix 11, strand 7, modified residue 5, site 4, region of interest 4, mutagenesis site 3, domain 2, sequence conflict 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6Q3V	X-RAY DIFFRACTION	1.88
8T48	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75113-F1	67.36	0.45

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 (4): 326–327 (cleavage); 490–491 (cleavage; by casp8); 509–510 (cleavage; by malt1); 200–201 (cleavage; by casp8)

Post-translational modifications (5): 226, 242, 258, 300, 562

Mutagenesis-validated functional residues (3):

Position	Phenotype
509	abolished cleavage by malt1.
623	abolished ability to degrade hiv-1 mrnas.
866	abolished ability to interact with ubiquitin.

Function

Pathways and Gene Ontology

Reactome pathways

24 pathways

ID	Pathway
R-HSA-9758274	Regulation of NF-kappa B signaling
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-166016	Toll Like Receptor 4 (TLR4) Cascade
R-HSA-166058	MyD88:MAL(TIRAP) cascade initiated on plasma membrane
R-HSA-166166	MyD88-independent TLR4 cascade
R-HSA-168138	Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168142	Toll Like Receptor 10 (TLR10) Cascade
R-HSA-168164	Toll Like Receptor 3 (TLR3) Cascade
R-HSA-168176	Toll Like Receptor 5 (TLR5) Cascade
R-HSA-168179	Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-168181	Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-168188	Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168898	Toll-like Receptor Cascades
R-HSA-181438	Toll Like Receptor 2 (TLR2) Cascade
R-HSA-445989	TAK1-dependent IKK and NF-kappa-B activation
R-HSA-446652	Interleukin-1 family signaling
R-HSA-449147	Signaling by Interleukins
R-HSA-9020702	Interleukin-1 signaling
R-HSA-937061	TRIF (TICAM1)-mediated TLR4 signaling
R-HSA-975138	TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975155	MyD88 dependent cascade initiated on endosome
R-HSA-975871	MyD88 cascade initiated on plasma membrane

MSigDB gene sets: 372 (showing top): GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_CELLULAR_RESPONSE_TO_UV, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, GOMF_NUCLEASE_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOLDRATH_ANTIGEN_RESPONSE

GO Biological Process (8): negative regulation of cytokine production (GO:0001818), negative regulation of protein ubiquitination (GO:0031397), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), cellular response to UV (GO:0034644), negative regulation of viral genome replication (GO:0045071), innate immune response (GO:0045087), regulation of innate immune response (GO:0045088), immune system process (GO:0002376)

GO Molecular Function (7): mRNA binding (GO:0003729), RNA nuclease activity (GO:0004540), hydrolase activity (GO:0016787), ubiquitin binding (GO:0043130), RNA binding (GO:0003723), nuclease activity (GO:0004518), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleolus (GO:0005730), cytosol (GO:0005829), PML body (GO:0016605), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-17 pathways:

Category	Pathways
Toll-like Receptor Cascades	7
Immune System	2
Toll Like Receptor 4 (TLR4) Cascade	2
Toll Like Receptor 2 (TLR2) Cascade	2
TAK1-dependent IKK and NF-kappa-B activation	1
Toll Like Receptor TLR1:TLR2 Cascade	1
Toll Like Receptor TLR6:TLR2 Cascade	1
Innate Immune System	1
MyD88:MAL(TIRAP) cascade initiated on plasma membrane	1
Toll Like Receptor 3 (TLR3) Cascade	1
Interleukin-1 signaling	1
TRIF (TICAM1)-mediated TLR4 signaling	1
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	1
MyD88 cascade initiated on plasma membrane	1
Signaling by Interleukins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytokine production	1
regulation of cytokine production	1
negative regulation of gene expression	1
negative regulation of multicellular organismal process	1
protein ubiquitination	1
regulation of protein ubiquitination	1
negative regulation of protein modification by small protein conjugation or removal	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of proteasomal protein catabolic process	1
negative regulation of ubiquitin-dependent protein catabolic process	1
response to UV	1
cellular response to light stimulus	1
viral genome replication	1
regulation of viral genome replication	1
negative regulation of viral process	1
immune response	1
defense response to symbiont	1
regulation of response to biotic stimulus	1
regulation of defense response	1
regulation of response to external stimulus	1
innate immune response	1
regulation of immune response	1
biological_process	1
RNA binding	1
nuclease activity	1
catalytic activity, acting on RNA	1
catalytic activity	1
ubiquitin-like protein binding	1
nucleic acid binding	1
catalytic activity, acting on a nucleic acid	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
nuclear body	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

856 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
N4BP1	NEDD4	P46934	762
N4BP1	ITCH	Q96J02	531
N4BP1	UBFD1	O14562	475
N4BP1	ZFAND3	Q9H8U3	467
N4BP1	ZFAND6	Q6FIF0	450
N4BP1	TTC3	P78477	443
N4BP1	NDFIP2	Q9NV92	443
N4BP1	RNF114	Q9Y508	428
N4BP1	ENTREP3	P81408	426
N4BP1	DEFB133	Q30KQ1	426
N4BP1	RNF19B	Q6ZMZ0	417
N4BP1	TRIM25	Q14258	414
N4BP1	PRORP	O15091	402
N4BP1	SEC62	Q99442	398
N4BP1	CALCOCO2	Q13137	397

IntAct

26 interactions, top by confidence:

A	B	Type	Score
ITCH	TP73	psi-mi:“MI:0914”(association)	0.750
ITCH	N4BP1	psi-mi:“MI:0915”(physical association)	0.590
N4BP1	ITCH	psi-mi:“MI:0407”(direct interaction)	0.590
MID1	N4BP1	psi-mi:“MI:0915”(physical association)	0.560
N4BP1	LITAF	psi-mi:“MI:0915”(physical association)	0.560
N4BP1	Nedd4	psi-mi:“MI:0915”(physical association)	0.530
N4BP1	Nedd4	psi-mi:“MI:0220”(ubiquitination reaction)	0.530
N4BP1		psi-mi:“MI:0915”(physical association)	0.520
	N4BP1	psi-mi:“MI:0915”(physical association)	0.520
Azi2	N4BP1	psi-mi:“MI:0914”(association)	0.500
Azi2	N4BP1	psi-mi:“MI:0915”(physical association)	0.500
CDK6	N4BP1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
TNFAIP3	LRRIQ3	psi-mi:“MI:2364”(proximity)	0.420
NEDD8	N4BP1	psi-mi:“MI:0915”(physical association)	0.400
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
PHKG2	N4BP1	psi-mi:“MI:0914”(association)	0.350
IL1F10	INPPL1	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
SP7	IGF2BP3	psi-mi:“MI:2364”(proximity)	0.270
RB1CC1	TRAPPC13	psi-mi:“MI:2364”(proximity)	0.270
MID1	N4BP1	psi-mi:“MI:0915”(physical association)	0.000
LITAF	N4BP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (67): N4BP1 (Affinity Capture-MS), N4BP1 (Proximity Label-MS), N4BP1 (Reconstituted Complex), N4BP1 (Proximity Label-MS), OTUD7B (Affinity Capture-MS), N4BP1 (Proximity Label-MS), N4BP1 (Protein-peptide), N4BP1 (Reconstituted Complex), UBC (Reconstituted Complex), NEDD8 (Reconstituted Complex), N4BP1 (Two-hybrid), LITAF (Two-hybrid), N4BP1 (Reconstituted Complex), UBC (Co-crystal Structure), CUL1 (Affinity Capture-Western)

ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A1L2Y1, A2ALV5, A9JRX0, B2GUZ2, D3ZSP7, F1QB81, O35892, O70608, O75113, P23497, P70347, Q0P5X5, Q13129, Q16533, Q2T9I9, Q3U1D0, Q5CZC0, Q5H9M0, Q5REF4, Q5RHB5, Q5SW75, Q5T4T6, Q5T5J6, Q5XG69, Q5ZLE9, Q60664, Q63HN8, Q7M6U3, Q7Z4H7, Q80VH0, Q8BVK9, Q8C263, Q8CCC3, Q8NA03, Q90WN7, Q92844, Q96QP1

Diamond homologs: A0JPN4, A2A288, A6QQJ8, O15037, O75113, Q1LVK9, Q5D1E7, Q5D1E8, Q5DTV4, Q5DTZ0, Q5HYM0, Q5ZLE9, Q6A037, Q6DJS0, Q7ZXG4, Q80U38, Q8BIY3, Q95YE2, Q9C0D7, Q9P2P1, A6NKG5, Q8I7P9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NEDD4	“up-regulates activity”	N4BP1	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 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.

GO biological processes:

GO term	Partners	Fold	FDR
inflammatory response	5	10.5×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1471 predictions. Top by Δscore:

Variant	Effect	Δscore
16:48546159:T:TA	donor_gain	1.0000
16:48546160:C:A	donor_gain	1.0000
16:48548001:TATTA:T	donor_loss	1.0000
16:48548002:ATTAC:A	donor_loss	1.0000
16:48548003:TTACC:T	donor_loss	1.0000
16:48548004:TA:T	donor_loss	1.0000
16:48548005:A:AT	donor_loss	1.0000
16:48548112:AACC:A	acceptor_loss	1.0000
16:48548113:ACC:A	acceptor_loss	1.0000
16:48548114:CCT:C	acceptor_loss	1.0000
16:48548115:C:A	acceptor_loss	1.0000
16:48548116:T:A	acceptor_loss	1.0000
16:48551483:C:CC	acceptor_gain	1.0000
16:48551488:CA:C	acceptor_gain	1.0000
16:48551489:A:C	acceptor_gain	1.0000
16:48553533:CCTCA:C	donor_loss	1.0000
16:48553534:CTCA:C	donor_loss	1.0000
16:48553535:TCACC:T	donor_loss	1.0000
16:48553536:CACCT:C	donor_loss	1.0000
16:48553537:ACCTG:A	donor_loss	1.0000
16:48553538:C:A	donor_loss	1.0000
16:48553638:C:CT	acceptor_gain	1.0000
16:48553665:CATGG:C	acceptor_gain	1.0000
16:48553666:ATGG:A	acceptor_gain	1.0000
16:48553667:TGG:T	acceptor_gain	1.0000
16:48553667:TGGC:T	acceptor_loss	1.0000
16:48553668:GG:G	acceptor_gain	1.0000
16:48553668:GGC:G	acceptor_loss	1.0000
16:48553670:C:CC	acceptor_gain	1.0000
16:48553670:CT:C	acceptor_loss	1.0000

AlphaMissense

5919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:48546213:G:T	P756H	1.000
16:48546216:A:T	V755D	1.000
16:48546222:A:G	F753S	1.000
16:48546236:G:C	F748L	1.000
16:48546236:G:T	F748L	1.000
16:48546237:A:G	F748S	1.000
16:48546238:A:G	F748L	1.000
16:48546249:A:G	L744P	1.000
16:48548029:A:G	W735R	1.000
16:48548029:A:T	W735R	1.000
16:48548064:T:A	D723V	1.000
16:48548064:T:C	D723G	1.000
16:48548064:T:G	D723A	1.000
16:48548065:C:G	D723H	1.000
16:48548070:G:A	T721I	1.000
16:48548073:A:T	V720E	1.000
16:48548076:A:T	I719N	1.000
16:48548106:A:G	L709P	1.000
16:48548106:A:T	L709Q	1.000
16:48548112:A:G	F707S	1.000
16:48551389:T:A	D705V	1.000
16:48551389:T:G	D705A	1.000
16:48551392:T:A	D704V	1.000
16:48551392:T:C	D704G	1.000
16:48551392:T:G	D704A	1.000
16:48551393:C:G	D704H	1.000
16:48551461:A:G	L681P	1.000
16:48551470:A:G	L678S	1.000
16:48553564:T:A	R665S	1.000
16:48553564:T:G	R665S	1.000

dbSNP variants (sampled 300 via entrez): RS1000002850 (16:48549056 G>A), RS1000014954 (16:48598724 G>A,T), RS1000045892 (16:48575673 C>T), RS1000074443 (16:48605986 G>A), RS1000126620 (16:48606173 A>G), RS1000182723 (16:48550154 T>C), RS1000244175 (16:48543542 C>T), RS1000245150 (16:48547704 C>G), RS1000250903 (16:48568894 T>C), RS1000254409 (16:48612042 T>G), RS1000315757 (16:48568187 C>T), RS1000358859 (16:48557318 G>A,T), RS1000535997 (16:48566997 G>A,C), RS1000574802 (16:48604843 T>A,C), RS1000588420 (16:48567253 G>C)

Disease associations

OMIM: gene MIM:619138 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST002228_2	Social autistic-like traits	2.000000e-06
GCST004600_134	Eosinophil percentage of white cells	1.000000e-12
GCST004606_18	Eosinophil count	5.000000e-11
GCST004617_114	Eosinophil percentage of granulocytes	6.000000e-11
GCST004623_78	Neutrophil percentage of granulocytes	6.000000e-11
GCST004624_1	Sum eosinophil basophil counts	3.000000e-10
GCST012020_130	Serum metabolite levels	2.000000e-14
GCST90002381_87	Eosinophil count	1.000000e-24
GCST90002382_438	Eosinophil percentage of white cells	1.000000e-29

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005426	autism spectrum disorder symptom
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
bisphenol A	decreases methylation, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Nickel	increases expression	2
Valproic Acid	affects cotreatment, decreases expression	2
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
2-butenal	decreases expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
Irinotecan	decreases expression	1
Resveratrol	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Coumestrol	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	decreases expression	1

Clinical trials (associated diseases)

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