ZNF827

Summary

ZNF827 (zinc finger protein 827, HGNC:27193) is a protein-coding gene on chromosome 4q31.21-q31.22, encoding Zinc finger protein 827 (Q17R98). As part of a ribonucleoprotein complex composed at least of HNRNPK, HNRNPL and the circular RNA circZNF827 that nucleates the complex on chromatin, may negatively regulate the transcription of genes involved in neuronal differentiation.

Enables NuRD complex binding activity. Involved in several processes, including establishment of protein localization to telomere; negative regulation of shelterin complex assembly; and telomere maintenance. Located in chromatin and chromosome, telomeric region. Part of ribonucleoprotein complex.

Source: NCBI Gene 152485 — RefSeq curated summary.

At a glance

• GWAS associations: 41
• Clinical variants (ClinVar): 125 total
• Druggable target: yes
• MANE Select transcript: NM_001306215

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27193
Approved symbol	ZNF827
Name	zinc finger protein 827
Location	4q31.21-q31.22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000151612
Ensembl biotype	protein_coding
OMIM	617962
Entrez	152485

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 12 protein_coding, 9 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000379448, ENST00000503462, ENST00000508784, ENST00000508995, ENST00000509940, ENST00000511534, ENST00000511659, ENST00000513320, ENST00000513840, ENST00000515386, ENST00000652097, ENST00000655597, ENST00000656985, ENST00000671699, ENST00000671983, ENST00000671990, ENST00000672123, ENST00000672161, ENST00000672532, ENST00000672795, ENST00000673178, ENST00000673452, ENST00000884878, ENST00000884879

RefSeq mRNA: 3 — MANE Select: NM_001306215 NM_001306215, NM_001410850, NM_178835

CCDS: CCDS34072, CCDS77968, CCDS93645

Canonical transcript exons

ENST00000508784 — 15 exons

Exon	Start	End
ENSE00001082005	145849322	145849561
ENSE00001082006	145885678	145886158
ENSE00001082008	145845956	145846013
ENSE00001142878	145774506	145774672
ENSE00001142887	145775789	145775960
ENSE00001142897	145779374	145779511
ENSE00001481068	145764988	145765165
ENSE00001607827	145902166	145903215
ENSE00002078988	145757627	145761598
ENSE00002218795	145938365	145938823
ENSE00003515320	145763090	145763122
ENSE00003598297	145870245	145870478
ENSE00003637752	145765547	145765738
ENSE00003643692	145823422	145823525
ENSE00003648920	145892243	145892415

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6629 / max 746.3879, expressed in 1388 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54247	6.4449	1293
54246	0.6967	366
54245	0.6768	333
54244	0.4087	186
54248	0.4017	219
54240	0.0341	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	98.85	gold quality
parotid gland	UBERON:0001831	98.68	gold quality
pancreatic ductal cell	CL:0002079	98.42	gold quality
left ventricle myocardium	UBERON:0006566	96.58	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.27	gold quality
pylorus	UBERON:0001166	96.01	gold quality
cerebellar vermis	UBERON:0004720	95.58	gold quality
kidney epithelium	UBERON:0004819	95.02	gold quality
nasal cavity epithelium	UBERON:0005384	94.08	gold quality
renal medulla	UBERON:0000362	93.96	gold quality
endothelial cell	CL:0000115	93.51	gold quality
cardia of stomach	UBERON:0001162	93.33	gold quality
nipple	UBERON:0002030	93.22	gold quality
ileal mucosa	UBERON:0000331	93.00	gold quality
seminal vesicle	UBERON:0000998	92.81	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.93	gold quality
lateral globus pallidus	UBERON:0002476	91.81	gold quality
tibialis anterior	UBERON:0001385	91.57	gold quality
superior surface of tongue	UBERON:0007371	91.21	gold quality
jejunal mucosa	UBERON:0000399	91.17	gold quality
jejunum	UBERON:0002115	91.13	gold quality
ventral tegmental area	UBERON:0002691	91.04	gold quality
globus pallidus	UBERON:0001875	90.62	gold quality
medial globus pallidus	UBERON:0002477	90.46	gold quality
inferior vagus X ganglion	UBERON:0005363	90.27	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.18	gold quality
corpus callosum	UBERON:0002336	90.10	gold quality
saphenous vein	UBERON:0007318	90.09	gold quality
epithelium of mammary gland	UBERON:0003244	89.94	gold quality
mammary duct	UBERON:0001765	89.87	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.30
E-GEOD-93593	yes	3.98
E-GEOD-100618	no	339.71

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2572.1	ZNF827	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605368

miRNA regulators (miRDB)

332 targeting ZNF827, 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-5011-5P	100.00	83.46	5820
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-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754

Literature-anchored findings (GeneRIF, showing 3)

• NuRD-ZNF827 recruitment to human telomeres causes remodeling of telomeric chromatin and creates an environment that promotes telomere-telomere recombination and integrates and controls multiple elements of Alternative lengthening of telomeres activity. (PMID:25150861)
• RBBP4 forms a negatively charged channel that binds to ZNF827 through a network of electrostatic interactions. (PMID:30045876)
• Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study. (PMID:34387878)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf827	ENSDARG00000076171
mus_musculus	Zfp827	ENSMUSG00000071064
rattus_norvegicus	Zfp827	ENSRNOG00000011697

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger protein 827 — Q17R98 (reviewed: Q17R98)

All UniProt accessions (9): Q17R98, A0A494C0H4, A0A590UJE4, A0A5F9ZGT0, A0A5F9ZGW8, A0A5F9ZHK5, G5E9Z1, H0Y9K9, H0Y9M2

UniProt curated annotations — full annotation on UniProt →

Function. As part of a ribonucleoprotein complex composed at least of HNRNPK, HNRNPL and the circular RNA circZNF827 that nucleates the complex on chromatin, may negatively regulate the transcription of genes involved in neuronal differentiation. Could also recruit the nucleosome remodeling and histone deacetylase/NuRD complex to telomeric regions of chromosomes to regulate chromatin remodeling as part of telomere maintenance.

Subunit / interactions. Part of a transcription inhibitory ribonucleoprotein complex composed at least of the circular RNA circZNF827, HNRNPK and HNRNPL. Interacts with the nucleosome remodeling and histone deacetylase/NuRD complex. Interacts with RBBP4; the interaction is direct and recruits RBBP4, a component of the NuRD complex, to telomeres.

Subcellular location. Nucleus. Chromosome. Telomere.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q17R98-1	1	yes
Q17R98-2	2
Q17R98-3	3

RefSeq proteins (3): NP_001293144, NP_001397779, NP_849157 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050688	Zinc_finger/UBP_domain	Family

Pfam: PF00096

UniProt features (63 total): cross-link 26, zinc finger region 9, compositionally biased region 6, mutagenesis site 6, sequence conflict 6, region of interest 5, splice variant 3, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5XXQ	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17R98-F1	49.07	0.00

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 (26): 176, 216, 226, 360, 372, 466, 475, 523, 549, 580, 587, 597, 634, 639, 658, 673, 673, 704, 710, 742 …

Mutagenesis-validated functional residues (6):

Position	Phenotype
3–5	loss of function in nurd complex recruitment to telomeric regions.
4	decreased interaction with rbbp4.
5	decreased interaction with rbbp4.
6	decreased interaction with rbbp4.
9	decreased interaction with rbbp4.
11	decreased interaction with rbbp4.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9940951	Interaction of NuRD complexes with transcription factors

MSigDB gene sets: 273 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_CHROMOSOME_ORGANIZATION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_DN, E2F_Q4_01, PAX4_01, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_CHROMOSOME, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_TELOMERE_ORGANIZATION, HNF1_Q6, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, COUP_01

GO Biological Process (6): telomere maintenance (GO:0000723), chromatin remodeling (GO:0006338), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), establishment of protein localization to telomere (GO:0070200), negative regulation of shelterin complex assembly (GO:1904791)

GO Molecular Function (5): DNA binding (GO:0003677), zinc ion binding (GO:0008270), NuRD complex binding (GO:0120325), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): chromosome, telomeric region (GO:0000781), chromatin (GO:0000785), nucleus (GO:0005634), ribonucleoprotein complex (GO:1990904), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
NuRD complex assembly	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	1
telomere organization	1
chromatin organization	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
establishment of protein localization to chromosome	1
negative regulation of protein-containing complex assembly	1
shelterin complex assembly	1
regulation of shelterin complex assembly	1
nucleic acid binding	1
transition metal ion binding	1
protein-containing complex binding	1
binding	1
cation binding	1
chromosomal region	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
protein-containing complex	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

714 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF827	ZNF276	Q8N554	668
ZNF827	RNF166	Q96A37	588
ZNF827	NR2C2	P49116	561
ZNF827	ZNF774	Q6NX45	560
ZNF827	DCLRE1B	Q9H816	534
ZNF827	ZBTB39	O15060	529
ZNF827	ZFP91	Q96JP5	524
ZNF827	HNRNPL	P14866	517
ZNF827	GRIN2C	Q14957	514
ZNF827	HNRNPK	P61978	514
ZNF827	ZNF559	Q9BR84	493
ZNF827	ZNF438	Q7Z4V0	491
ZNF827	RBBP4	P31149	477
ZNF827	ZNF18	P17022	476
ZNF827	ZNF8	P17098	473

IntAct

19 interactions, top by confidence:

A	B	Type	Score
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
HNRNPK	HNRNPL	psi-mi:“MI:0914”(association)	0.650
ZNF827	RBBP7	psi-mi:“MI:0915”(physical association)	0.620
MESD	ZNF827	psi-mi:“MI:0915”(physical association)	0.560
ZNF827	MTA2	psi-mi:“MI:0914”(association)	0.500
ZNF827	HDAC2	psi-mi:“MI:0915”(physical association)	0.500
ZNF827	CHD4	psi-mi:“MI:0915”(physical association)	0.500
ZNF827	MTA2	psi-mi:“MI:0915”(physical association)	0.500
ZNF827	GATAD2B	psi-mi:“MI:0915”(physical association)	0.500
PPP1CA	ZNF827	psi-mi:“MI:0915”(physical association)	0.370
ZNF827	HNRNPL	psi-mi:“MI:0914”(association)	0.350
RCOR1	ZBTB5	psi-mi:“MI:0914”(association)	0.350
RBBP4	PHF20L1	psi-mi:“MI:0914”(association)	0.350
HDAC1	KPNA3	psi-mi:“MI:0914”(association)	0.350
TP53BP1	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
BRCA1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
ZNF827	MESD	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (46): GATAD2A (Affinity Capture-Western), GATAD2B (Affinity Capture-Western), RBBP7 (Affinity Capture-Western), RBBP4 (Affinity Capture-Western), CHD3 (Affinity Capture-Western), CHD4 (Affinity Capture-Western), MTA1 (Affinity Capture-Western), MTA2 (Affinity Capture-Western), MTA3 (Affinity Capture-Western), HDAC1 (Affinity Capture-Western), HDAC2 (Affinity Capture-Western), ZNF827 (Affinity Capture-Western), ZNF827 (Affinity Capture-Western), ZNF827 (Affinity Capture-Western), ZNF827 (Affinity Capture-Western)

ESM2 similar proteins: A0A1L8GR68, A2CG63, E9Q9M8, F7AQ22, G3V8T1, O75152, O75376, P49140, P51826, P97432, Q13625, Q14596, Q17R98, Q1LY51, Q3TYA6, Q4KKX4, Q4LE39, Q4R6F6, Q501R9, Q505G8, Q5F3Z9, Q5HYC2, Q5RC94, Q5XJV7, Q60974, Q68FE8, Q69Z61, Q6A098, Q6NXK2, Q6NZF1, Q6PJT7, Q6ZNC4, Q86YI8, Q8BFU3, Q8BJ05, Q8CCH7, Q8CG79, Q8CHY6, Q8K2W6, Q8ND24

Diamond homologs: A1L2U9, A2A884, A2ANX9, B0X0K1, B0X9H6, B0XS89, B1WAZ8, B1WBU4, E9PZZ1, E9Q6W4, G5EBU4, O15090, O60315, O62836, O73694, O75362, O77459, P08048, P10925, P15822, P17010, P17012, P20662, P26635, P28166, P28575, P28698, P31509, P31629, P36197, P52739, P53243, P60319, P78871, P80944, Q00453, Q00900, Q01800, Q02026, Q02027

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 20 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
Regulation of TP53 Activity through Acetylation	7	188.1×	4e-13
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	7	156.8×	8e-13
RNA Polymerase I Transcription Initiation	7	92.2×	2e-11
Regulation of PTEN gene transcription	8	84.0×	1e-12
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	7	62.7×	2e-10
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	7	60.3×	3e-10
NuRD complex assembly	7	58.0×	3e-10
HDACs deacetylate histones	8	56.6×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	7	268.1×	2e-14
chromatin remodeling	8	29.2×	6e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	110
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3534 predictions. Top by Δscore:

Variant	Effect	Δscore
4:145761596:CAC:C	acceptor_gain	1.0000
4:145761599:C:CC	acceptor_gain	1.0000
4:145761600:T:G	acceptor_loss	1.0000
4:145761603:C:CT	acceptor_gain	1.0000
4:145761604:G:T	acceptor_gain	1.0000
4:145764973:A:AC	donor_gain	1.0000
4:145764974:C:CC	donor_gain	1.0000
4:145764974:CTTG:C	donor_gain	1.0000
4:145764981:T:A	donor_gain	1.0000
4:145764986:A:AC	donor_gain	1.0000
4:145764987:C:CC	donor_gain	1.0000
4:145765023:ATGCT:A	donor_gain	1.0000
4:145765132:T:C	acceptor_gain	1.0000
4:145765541:CCTTA:C	donor_loss	1.0000
4:145765542:CTTA:C	donor_loss	1.0000
4:145765543:TTACC:T	donor_loss	1.0000
4:145765544:TACCT:T	donor_loss	1.0000
4:145765546:C:T	donor_loss	1.0000
4:145765546:CCTTT:C	donor_gain	1.0000
4:145765739:C:CC	acceptor_gain	1.0000
4:145774544:T:TA	donor_gain	1.0000
4:145774668:GACAA:G	acceptor_gain	1.0000
4:145774669:ACAA:A	acceptor_gain	1.0000
4:145774670:CAA:C	acceptor_gain	1.0000
4:145774670:CAAC:C	acceptor_gain	1.0000
4:145774671:AA:A	acceptor_gain	1.0000
4:145774671:AACT:A	acceptor_loss	1.0000
4:145774672:ACTAC:A	acceptor_loss	1.0000
4:145774673:C:A	acceptor_loss	1.0000
4:145774673:C:CC	acceptor_gain	1.0000

AlphaMissense

7093 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:145765013:G:C	H1069D	1.000
4:145765033:A:G	L1062P	1.000
4:145765062:G:C	C1052W	1.000
4:145765063:C:G	C1052S	1.000
4:145765063:C:T	C1052Y	1.000
4:145765064:A:G	C1052R	1.000
4:145765064:A:T	C1052S	1.000
4:145765071:A:C	C1049W	1.000
4:145765072:C:G	C1049S	1.000
4:145765072:C:T	C1049Y	1.000
4:145765073:A:G	C1049R	1.000
4:145765073:A:T	C1049S	1.000
4:145765095:G:C	H1041Q	1.000
4:145765095:G:T	H1041Q	1.000
4:145765096:T:C	H1041R	1.000
4:145765097:G:C	H1041D	1.000
4:145765105:A:G	L1038P	1.000
4:145765107:A:C	H1037Q	1.000
4:145765107:A:T	H1037Q	1.000
4:145765108:T:C	H1037R	1.000
4:145765109:G:C	H1037D	1.000
4:145765109:G:T	H1037N	1.000
4:145765134:G:C	C1028W	1.000
4:145765135:C:T	C1028Y	1.000
4:145765136:A:G	C1028R	1.000
4:145765140:A:C	F1026L	1.000
4:145765140:A:T	F1026L	1.000
4:145765141:A:G	F1026S	1.000
4:145765142:A:G	F1026L	1.000
4:145765146:G:C	C1024W	1.000

dbSNP variants (sampled 300 via entrez): RS1000016675 (4:145854886 C>A), RS1000026999 (4:145906800 T>C), RS1000028648 (4:145897983 C>T), RS1000042734 (4:145864149 G>A), RS1000059662 (4:145906967 G>C,T), RS1000081356 (4:145788223 T>C), RS1000087824 (4:145857989 G>T), RS10000888 (4:145888016 A>C,G,T), RS1000127199 (4:145832770 G>A,T), RS1000134768 (4:145770343 T>A), RS1000138225 (4:145903941 T>G), RS1000163677 (4:145836180 G>A,C), RS10002091 (4:145885614 G>C), RS1000222545 (4:145923421 G>A), RS1000254751 (4:145784674 T>G)

Disease associations

OMIM: gene MIM:617962 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

41 associations (top):

Study	Trait	p-value
GCST001234_3	Gamma glutamyl transpeptidase	1.000000e-14
GCST001277_22	Liver enzyme levels (gamma-glutamyl transferase)	3.000000e-27
GCST001538_16	Immune reponse to smallpox (secreted IFN-alpha)	6.000000e-12
GCST001713_3	Dental caries	2.000000e-06
GCST003469_6	Response to cognitive-behavioural therapy in anxiety disorder	5.000000e-06
GCST003807_2	Systolic blood pressure response to hydrochlorothiazide in hypertension	5.000000e-06
GCST004093_5	Prostate-specific antigen levels	4.000000e-09
GCST005194_254	Coronary artery disease	9.000000e-08
GCST005196_123	Coronary artery disease	1.000000e-06
GCST005351_17	Carboplatin disposition in epthelial ovarian cancer	9.000000e-06
GCST005998_12	Alanine transaminase levels	3.000000e-08
GCST005999_10	Aspartate aminotransferase levels	4.000000e-11
GCST006019_47	Gamma glutamyl transferase levels	1.000000e-58
GCST006288_211	Heel bone mineral density	2.000000e-07
GCST006288_529	Heel bone mineral density	3.000000e-11
GCST006979_756	Heel bone mineral density	5.000000e-17
GCST007096_22	Pulse pressure	6.000000e-09
GCST007099_7	Systolic blood pressure	1.000000e-07
GCST007259_1	Severe skin toxicity response to cetuximab in colorectal cancer	2.000000e-07
GCST007259_2	Severe skin toxicity response to cetuximab in colorectal cancer	3.000000e-07
GCST007269_98	Pulse pressure	3.000000e-08
GCST009365_38	LDL cholesterol levels x short total sleep time interaction (2df test)	2.000000e-09
GCST009365_9	LDL cholesterol levels x short total sleep time interaction (2df test)	1.000000e-07
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11
GCST010866_25	Coronary artery disease	3.000000e-09
GCST011349_50	Gamma glutamyl transferase levels	3.000000e-61
GCST011351_6	Aspartate aminotransferase levels	2.000000e-11
GCST011352_24	Alanine aminotransferase levels	8.000000e-13

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0007820	cognitive behavioural therapy
EFO:0006944	systolic blood pressure change measurement
EFO:0004736	aspartate aminotransferase measurement
EFO:0009270	heel bone mineral density
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0007682	response to cetuximab
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004980	appendicular lean mass
EFO:0007874	gut microbiome measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4879532 (PROTEIN-PROTEIN INTERACTION)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	8
(+)-JQ1 compound	affects expression, increases reaction, decreases expression	4
sodium arsenite	increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Aflatoxin B1	decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
lead acetate	affects cotreatment, increases expression	1
zinc protoporphyrin	affects cotreatment, increases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
chromium hexavalent ion	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dimethylarsinous acid	increases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4822143	Binding	Protac activity at CRBN/ZNF827 in human Kelly cells assessed as induction of ZNF827 degradation by measuring downregulation of ZNF827 protein expression at 1 uM measured after 5 hrs by proteomics analysis based LC-MS analysis	A biphenyl inhibitor of eIF4E targeting an internal binding site enables the design of cell-permeable PROTAC-degraders. — Eur J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder