SH3RF2

Summary

SH3RF2 (SH3 domain containing ring finger 2, HGNC:26299) is a protein-coding gene on chromosome 5q32, encoding E3 ubiquitin-protein ligase SH3RF2 (Q8TEC5). Has E3 ubiquitin-protein ligase activity.

Enables protein phosphatase 1 binding activity and ubiquitin protein ligase activity. Involved in several processes, including positive regulation of JNK cascade; protein autoubiquitination; and regulation of protein metabolic process. Located in nucleoplasm.

Source: NCBI Gene 153769 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 151 total
• MANE Select transcript: NM_152550

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26299
Approved symbol	SH3RF2
Name	SH3 domain containing ring finger 2
Location	5q32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23654, RNF158, Hepp1, POSHER
Ensembl gene	ENSG00000156463
Ensembl biotype	protein_coding
OMIM	613377
Entrez	153769

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000359120, ENST00000503848, ENST00000504522, ENST00000506591, ENST00000509286, ENST00000511217, ENST00000511705, ENST00000859824, ENST00000859825, ENST00000859826, ENST00000859827, ENST00000859828, ENST00000859829, ENST00000859830, ENST00000859831, ENST00000859832, ENST00000859833, ENST00000930066

RefSeq mRNA: 1 — MANE Select: NM_152550 NM_152550

CCDS: CCDS4280

Canonical transcript exons

ENST00000359120 — 10 exons

Exon	Start	End
ENSE00001202540	146013747	146014061
ENSE00001202547	146000058	146000327
ENSE00001406919	146062426	146063292
ENSE00001414856	145937823	145938306
ENSE00001518493	145936578	145936694
ENSE00002290081	146049075	146049245
ENSE00002451839	146055981	146056213
ENSE00002496161	146004058	146004153
ENSE00003610869	146047772	146047863
ENSE00003690580	146059866	146060224

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5613 / max 1024.7791, expressed in 1098 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
59191	4.0114	958
59206	2.0041	53
59194	1.9785	458
59205	0.8975	41
59203	0.6537	4
59192	0.3243	174
59209	0.2147	12
59195	0.1863	100
59193	0.1546	90
59208	0.0664	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.48	gold quality
apex of heart	UBERON:0002098	99.42	gold quality
heart right ventricle	UBERON:0002080	99.21	gold quality
left testis	UBERON:0004533	99.18	gold quality
right testis	UBERON:0004534	98.99	gold quality
myocardium	UBERON:0002349	98.96	gold quality
sperm	CL:0000019	98.86	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.71	gold quality
upper arm skin	UBERON:0004263	98.54	gold quality
heart left ventricle	UBERON:0002084	98.53	gold quality
cardiac ventricle	UBERON:0002082	98.52	gold quality
oviduct epithelium	UBERON:0004804	98.42	gold quality
right atrium auricular region	UBERON:0006631	98.08	gold quality
cardiac atrium	UBERON:0002081	97.96	gold quality
lower esophagus mucosa	UBERON:0035834	96.94	gold quality
adult organism	UBERON:0007023	96.93	gold quality
testis	UBERON:0000473	96.55	gold quality
upper leg skin	UBERON:0004262	95.87	gold quality
heart	UBERON:0000948	95.51	gold quality
skin of abdomen	UBERON:0001416	95.35	gold quality
gingival epithelium	UBERON:0001949	95.23	gold quality
skin of leg	UBERON:0001511	95.19	gold quality
zone of skin	UBERON:0000014	94.75	gold quality
pancreatic ductal cell	CL:0002079	94.61	gold quality
skin of hip	UBERON:0001554	94.47	gold quality
esophagus mucosa	UBERON:0002469	94.10	gold quality
gingiva	UBERON:0001828	93.53	gold quality
gastrocnemius	UBERON:0001388	91.55	gold quality
mammalian vulva	UBERON:0000997	90.72	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.54	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	32.87
E-ANND-3	yes	7.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting SH3RF2, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-1224-5P	99.48	65.59	803
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-1306-5P	97.11	64.04	755
HSA-MIR-3974	96.56	66.22	928
HSA-MIR-597-3P	96.46	68.03	1035
HSA-MIR-3690	96.44	65.18	737
HSA-MIR-6858-5P	96.05	64.59	1020
HSA-MIR-885-3P	95.14	63.08	448
HSA-MIR-3679-5P	94.75	66.46	862
HSA-MIR-1185-5P	94.47	65.95	725
HSA-MIR-12115	94.19	66.37	738
HSA-MIR-3677-5P	93.16	64.62	393

Literature-anchored findings (GeneRIF, showing 4)

• the novel protein heart protein phosphatase 1-binding protein (Hepp1), encoded by FLJ23654, was identified.Hepp1 can play a role in cardiac functions by working in concert with PP1. (PMID:19945436)
• Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population. (PMID:33129950)
• Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD. (PMID:33894019)
• SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation. (PMID:38195842)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sh3rf2	ENSMUSG00000057719
rattus_norvegicus	Sh3rf2	ENSRNOG00000018780
drosophila_melanogaster	Dlish	FBGN0034264
drosophila_melanogaster	EndoB	FBGN0034433
caenorhabditis_elegans		WBGENE00001335
caenorhabditis_elegans		WBGENE00012891
caenorhabditis_elegans		WBGENE00015128

Paralogs (12): SORBS1 (ENSG00000095637), SH3GLB1 (ENSG00000097033), NCF4 (ENSG00000100365), SH3GL2 (ENSG00000107295), SH3D19 (ENSG00000109686), SORBS3 (ENSG00000120896), SH3GL3 (ENSG00000140600), SH3GL1 (ENSG00000141985), SH3GLB2 (ENSG00000148341), SH3RF1 (ENSG00000154447), SORBS2 (ENSG00000154556), SH3RF3 (ENSG00000172985)

Protein

Protein identifiers

E3 ubiquitin-protein ligase SH3RF2 — Q8TEC5 (reviewed: Q8TEC5)

Alternative names: Heart protein phosphatase 1-binding protein, POSH-eliminating RING protein, Protein phosphatase 1 regulatory subunit 39, RING finger protein 158, RING-type E3 ubiquitin transferase SH3RF2, SH3 domain-containing RING finger protein 2

All UniProt accessions (1): Q8TEC5

UniProt curated annotations — full annotation on UniProt →

Function. Has E3 ubiquitin-protein ligase activity. Acts as an anti-apoptotic regulator of the JNK pathway by ubiquitinating and promoting the degradation of SH3RF1, a scaffold protein that is required for pro-apoptotic JNK activation. Facilitates TNF-mediated recruitment of adapter proteins TRADD and RIPK1 to TNFRSF1A and regulates PAK4 protein stability via inhibition of its ubiquitin-mediated proteasomal degradation. Inhibits PPP1CA phosphatase activity.

Subunit / interactions. Interacts with FASLG and PPP1CA. Interacts with PAK4 and TNFRSF1A. Interacts with DLK1, MAP3K10/MLK2, MAPK8IP1/JIP1, MAPK8IP2/JIP2 and MAPK8IP3/JIP3. Interacts with RAC1 (both active GTP- or inactive GDP-bound forms).

Subcellular location. Nucleus.

Tissue specificity. Heart (at protein level). Up-regulated in colon cancer tissues as compared to normal colon tissues (at protein level). Testis. In the heart, present in the apex, left atrium, right atrium, left ventricle and right ventricle, but not in the aorta.

Post-translational modifications. Autoubiquitinated.

Domain organisation. The RING finger domain is required for ubiquitin ligase activity and autoubiquitination.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the SH3RF family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TEC5-1	1	yes
Q8TEC5-2	2
Q8TEC5-3	3

RefSeq proteins (1): NP_689763* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR028511	SH3RF2_RING-HC_Zfn	Domain
IPR035792	SH3RF2_SH3_1	Domain
IPR035794	SH3RF2_SH3_2	Domain
IPR035822	SH3RF2_SH3_3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR050384	Endophilin_SH3RF	Family

Pfam: PF00018, PF07653, PF13639, PF14604

UniProt features (28 total): sequence variant 7, region of interest 6, domain 3, splice variant 3, compositionally biased region 2, mutagenesis site 2, sequence conflict 2, chain 1, modified residue 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TEC5-F1	57.92	0.22

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): 649

Mutagenesis-validated functional residues (2):

Position	Phenotype
643	significant loss of interaction with ppp1ca. significant loss of interaction with ppp1ca; when associated with g-645.
645	significant loss of interaction with ppp1ca. significant loss of interaction with ppp1ca; when associated with g-643.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): AP1_01, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, TGACCTY_ERR1_Q2, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, TCF4_Q5, AP1_Q4_01, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_JNK_CASCADE, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS

GO Biological Process (9): protein ubiquitination (GO:0016567), positive regulation of cell migration (GO:0030335), negative regulation of protein ubiquitination (GO:0031397), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), negative regulation of apoptotic process (GO:0043066), negative regulation of JNK cascade (GO:0046329), positive regulation of JNK cascade (GO:0046330), protein autoubiquitination (GO:0051865), regulation of JNK cascade (GO:0046328)

GO Molecular Function (8): protein phosphatase inhibitor activity (GO:0004864), protein phosphatase 1 binding (GO:0008157), zinc ion binding (GO:0008270), phosphatase binding (GO:0019902), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), 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
JNK cascade	3
protein ubiquitination	2
regulation of JNK cascade	2
protein modification by small protein conjugation	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	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
positive regulation of proteasomal protein catabolic process	1
positive regulation of ubiquitin-dependent protein catabolic process	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
negative regulation of MAPK cascade	1
positive regulation of MAPK cascade	1
regulation of MAPK cascade	1
phosphoprotein phosphatase activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
protein phosphatase binding	1
transition metal ion binding	1
enzyme binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

528 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SH3RF2	TSHR	P16473	609
SH3RF2	SOCS2	O14508	549
SH3RF2	ARMCX4	Q5H9R4	508
SH3RF2	SSBP1	Q04837	495
SH3RF2	PDCD6IP	Q8WUM4	490
SH3RF2	GPR151	Q8TDV0	489
SH3RF2	PRELID2	Q8N945	479
SH3RF2	TRAPPC12	Q8WVT3	474
SH3RF2	LRP5	O75197	450
SH3RF2	RHPN1	Q8TCX5	449
SH3RF2	GHR	P10912	436
SH3RF2	GRXCR2	A6NFK2	434
SH3RF2	SP7	Q8TDD2	428
SH3RF2	TENM4	Q6N022	424
SH3RF2	UNC5D	Q6UXZ4	419

IntAct

66 interactions, top by confidence:

A	B	Type	Score
AMOTL2	SH3RF2	psi-mi:“MI:0915”(physical association)	0.670
SH3RF2	MTUS2	psi-mi:“MI:0915”(physical association)	0.670
GOLGA2	SH3RF2	psi-mi:“MI:0915”(physical association)	0.670
MTUS2	SH3RF2	psi-mi:“MI:0915”(physical association)	0.670
SH3RF2	AMOTL2	psi-mi:“MI:0915”(physical association)	0.670
SH3RF2	PPP1CA	psi-mi:“MI:0915”(physical association)	0.660
SH3RF2	PPP1CA	psi-mi:“MI:0407”(direct interaction)	0.660
BANP	SH3RF2	psi-mi:“MI:0915”(physical association)	0.560
	SH3RF2	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	SH3RF2	psi-mi:“MI:0915”(physical association)	0.560
BAG4	SH3RF2	psi-mi:“MI:0915”(physical association)	0.560
VPS37C	SH3RF2	psi-mi:“MI:0915”(physical association)	0.560
SH3RF2	NEK6	psi-mi:“MI:0915”(physical association)	0.560
SH3RF2	AKAP8L	psi-mi:“MI:0915”(physical association)	0.560
CCDC102B	SH3RF2	psi-mi:“MI:0915”(physical association)	0.560
EFS	SH3RF2	psi-mi:“MI:0915”(physical association)	0.560
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
KCNE3	RIOK3	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
ENG	SH3RF2	psi-mi:“MI:0407”(direct interaction)	0.440
SH3RF2	FASLG	psi-mi:“MI:0407”(direct interaction)	0.440
SH3RF2	SIAH1	psi-mi:“MI:0915”(physical association)	0.400
SH3RF2	ZYG11B	psi-mi:“MI:0915”(physical association)	0.400
HSP90AB1	SH3RF2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (67): SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SPERT (Two-hybrid), CENPJ (Affinity Capture-MS), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid), SH3RF2 (Two-hybrid)

ESM2 similar proteins: A1L1I3, A5D7F8, A5D8S5, D3ZEN0, E9Q0S6, G5E5X0, O08919, O35615, O54967, O70405, O75385, P00519, P19419, P48382, Q07912, Q17R13, Q28E95, Q3TN34, Q498M5, Q498S6, Q4KMP7, Q5RBI7, Q5RBR0, Q5U2X5, Q63767, Q69ZB8, Q69ZI1, Q6GQX6, Q6NRD3, Q71F54, Q7TT28, Q7Z6J0, Q80Z36, Q8BHL3, Q8BZT2, Q8C120, Q8IY33, Q8N1G0, Q8TEC5, Q8TEJ3

Diamond homologs: A0A0G2JV04, A0JNB0, A1A5H8, A1CEK6, A1DFN5, A1Y2K1, A2QW93, A3LXQ8, A4RF61, A5D8S5, A6H7G2, A6QLK6, A7MBI0, D3ZG83, F1RDG9, O13154, O42287, O43125, O55043, O74749, O75791, O89100, P00523, P00525, P00526, P00528, P05480, P06241, P09324, P10936, P12931, P13115, P13116, P13406, P14084, P14085, P15054, P25020, P27446, P27447

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	SH3RF2	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	133
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2199 predictions. Top by Δscore:

Variant	Effect	Δscore
5:146000053:TGCAG:T	acceptor_loss	1.0000
5:146000054:GCAGG:G	acceptor_loss	1.0000
5:146000055:CAGG:C	acceptor_loss	1.0000
5:146000057:G:A	acceptor_loss	1.0000
5:146000323:TCAAG:T	donor_loss	1.0000
5:146000324:CAAG:C	donor_loss	1.0000
5:146000325:AAG:A	donor_loss	1.0000
5:146000326:AGGT:A	donor_loss	1.0000
5:146000328:GTA:G	donor_loss	1.0000
5:146000329:T:A	donor_loss	1.0000
5:146047864:G:GG	donor_gain	1.0000
5:146062424:A:AG	acceptor_gain	1.0000
5:146062425:G:GG	acceptor_gain	1.0000
5:146062425:GC:G	acceptor_gain	1.0000
5:146062425:GCA:G	acceptor_gain	1.0000
5:146062425:GCAA:G	acceptor_gain	1.0000
5:145936692:AAGG:A	donor_loss	0.9900
5:145936693:AGG:A	donor_loss	0.9900
5:145936694:GGTT:G	donor_loss	0.9900
5:145936695:G:T	donor_loss	0.9900
5:146000047:T:TA	acceptor_gain	0.9900
5:146000056:A:AG	acceptor_gain	0.9900
5:146000056:AG:A	acceptor_gain	0.9900
5:146000057:G:GT	acceptor_gain	0.9900
5:146000057:GG:G	acceptor_gain	0.9900
5:146000057:GGT:G	acceptor_gain	0.9900
5:146000057:GGTGC:G	acceptor_gain	0.9900
5:146000285:C:T	donor_gain	0.9900
5:146004057:GGAC:G	acceptor_gain	0.9900
5:146004124:G:GG	donor_gain	0.9900

AlphaMissense

4725 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:145937962:T:C	C12R	0.999
5:145938022:T:C	F32L	0.999
5:145938024:C:A	F32L	0.999
5:145938024:C:G	F32L	0.999
5:145937971:T:C	C15R	0.998
5:145938025:T:C	C33R	0.998
5:145938073:T:C	C49R	0.998
5:146004097:T:A	W230R	0.998
5:146004097:T:C	W230R	0.998
5:145937962:T:A	C12S	0.997
5:145937963:G:C	C12S	0.997
5:145937971:T:A	C15S	0.997
5:145937972:G:C	C15S	0.997
5:145938010:T:C	C28R	0.997
5:145938023:T:C	F32S	0.997
5:145938026:G:A	C33Y	0.997
5:145938027:C:G	C33W	0.997
5:145938038:T:C	L37P	0.997
5:146000260:C:A	A194D	0.997
5:146000320:T:C	F214S	0.997
5:146004099:G:C	W230C	0.997
5:146004099:G:T	W230C	0.997
5:146004100:G:C	A231P	0.997
5:146004106:G:C	G233R	0.997
5:146004107:G:A	G233D	0.997
5:146062445:T:C	F645S	0.997
5:145937964:C:G	C12W	0.996
5:145937973:C:G	C15W	0.996
5:145938005:T:C	L26P	0.996
5:145938025:T:A	C33S	0.996

dbSNP variants (sampled 300 via entrez): RS1000021056 (5:146005769 C>G), RS1000053412 (5:146015095 G>A), RS1000068927 (5:145971424 C>A), RS1000100329 (5:146013680 G>T), RS1000100447 (5:146066081 A>G), RS1000121842 (5:145970581 T>C), RS1000123894 (5:146044009 T>C), RS1000125451 (5:146021367 T>G), RS1000127602 (5:146052890 C>T), RS1000131413 (5:146013871 G>A,C,T), RS1000153847 (5:146074610 A>C), RS1000157341 (5:146053425 G>A), RS1000175366 (5:145988851 C>T), RS1000185999 (5:146030848 T>C), RS1000186280 (5:145969182 C>T)

Disease associations

OMIM: gene MIM:613377 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003650_8	Bacteremia	4.000000e-06
GCST009173_1	Response to (pegylated) interferon in HBeAG-positive hepatitis B	3.000000e-06
GCST010796_5196	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5197	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007859	response to interferon
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
(+)-JQ1 compound	decreases expression	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression	2
aristolochic acid I	increases expression	1
TAK-243	increases sumoylation	1
pirinixic acid	increases activity, affects binding, decreases expression	1
lead acetate	decreases expression	1
beta-lapachone	increases expression	1
zinc chromate	decreases expression, increases abundance	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	increases expression	1
Temozolomide	decreases expression	1
Decitabine	decreases expression, affects reaction	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Cytarabine	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression, affects response to substance, increases expression	1
Phthalic Acids	increases methylation	1
Progesterone	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice