ZBTB11

Summary

ZBTB11 (zinc finger and BTB domain containing 11, HGNC:16740) is a protein-coding gene on chromosome 3q12.3, encoding Zinc finger and BTB domain-containing protein 11 (O95625). May be involved in transcriptional regulation. It is a common-essential gene (DepMap: required in 98.9% of cancer cell lines).

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 69.

Source: NCBI Gene 27107 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual developmental disorder, autosomal recessive 69 (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 178 total — 10 pathogenic
• Phenotypes (HPO): 15
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 98.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_014415

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16740
Approved symbol	ZBTB11
Name	zinc finger and BTB domain containing 11
Location	3q12.3
Locus type	gene with protein product
Status	Approved
Aliases	ZNF-U69274, ZNF913
Ensembl gene	ENSG00000066422
Ensembl biotype	protein_coding
OMIM	618181
Entrez	27107

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 retained_intron, 7 protein_coding, 1 nonsense_mediated_decay

ENST00000312938, ENST00000461821, ENST00000471673, ENST00000688910, ENST00000689142, ENST00000690624, ENST00000690651, ENST00000704109, ENST00000704110, ENST00000704111, ENST00000704112, ENST00000704113, ENST00000704114, ENST00000704115, ENST00000704116, ENST00000913142

RefSeq mRNA: 1 — MANE Select: NM_014415 NM_014415

CCDS: CCDS2943

Canonical transcript exons

ENST00000312938 — 11 exons

Exon	Start	End
ENSE00000934109	101664538	101664714
ENSE00000934111	101671130	101671361
ENSE00000967225	101671978	101672213
ENSE00000967226	101664964	101665808
ENSE00000967227	101659783	101660028
ENSE00000967228	101656104	101656248
ENSE00000967229	101654704	101654821
ENSE00000967230	101652780	101652938
ENSE00000967231	101652496	101652671
ENSE00001250698	101648889	101651683
ENSE00001910605	101676605	101677132

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 95.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4371 / max 254.5026, expressed in 1805 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43552	13.7571	1787
43551	3.2332	1362
43553	0.8029	505
43550	0.6439	295

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.17	gold quality
secondary oocyte	CL:0000655	95.10	gold quality
endothelial cell	CL:0000115	94.29	gold quality
male germ cell	CL:0000015	92.75	gold quality
oocyte	CL:0000023	92.61	gold quality
tibia	UBERON:0000979	91.33	gold quality
choroid plexus epithelium	UBERON:0003911	91.18	gold quality
visceral pleura	UBERON:0002401	91.01	gold quality
pleura	UBERON:0000977	90.14	gold quality
parietal pleura	UBERON:0002400	90.04	gold quality
jejunal mucosa	UBERON:0000399	89.38	gold quality
superficial temporal artery	UBERON:0001614	89.13	gold quality
hair follicle	UBERON:0002073	89.03	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.01	gold quality
esophagus squamous epithelium	UBERON:0006920	88.77	gold quality
cartilage tissue	UBERON:0002418	88.42	gold quality
cortical plate	UBERON:0005343	88.30	gold quality
calcaneal tendon	UBERON:0003701	88.29	gold quality
epithelium of nasopharynx	UBERON:0001951	88.28	gold quality
upper leg skin	UBERON:0004262	88.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.21	gold quality
gingival epithelium	UBERON:0001949	88.08	gold quality
bone marrow	UBERON:0002371	87.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.82	gold quality
oral cavity	UBERON:0000167	87.58	gold quality
gingiva	UBERON:0001828	87.43	gold quality
biceps brachii	UBERON:0001507	87.42	gold quality
skin of hip	UBERON:0001554	87.37	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.32	gold quality
germinal epithelium of ovary	UBERON:0001304	87.16	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6386	no	580.68
E-ANND-3	no	4.22

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2329.1	ZBTB11	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:35294876

miRNA regulators (miRDB)

175 targeting ZBTB11, 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-1277-5P	100.00	73.95	5056
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-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• we report two ID families segregating ZBTB11 biallelic mutations disrupting Zn2+-binding motifs and provide functional evidence linking ZBTB11 dysfunction to this phenotype (PMID:29893856)
• Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function. (PMID:33122634)
• The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes. (PMID:35294876)
• Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis. (PMID:38355937)
• Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. (PMID:38899514)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb11	ENSDARG00000017886
mus_musculus	Zbtb11	ENSMUSG00000022601
rattus_norvegicus	Zbtb11	ENSRNOG00000001613

Paralogs (38): ZFX (ENSG00000005889), ZFAT (ENSG00000066827), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), IKZF5 (ENSG00000095574), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), ZNF304 (ENSG00000131845), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF691 (ENSG00000164011), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF561 (ENSG00000171469), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF551 (ENSG00000204519), ZNF134 (ENSG00000213762), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 11 — O95625 (reviewed: O95625)

All UniProt accessions (7): O95625, A0A8I5KRB5, A0A8I5KRR0, A0A8I5KU41, A0A8I5QKX4, A0A994J7A5, C9J2L2

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus. Nucleolus.

Disease relevance. Neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities (NEDMCB) [MIM:618383] An autosomal recessive disorder characterized by global developmental delay, developmental regression, variably impaired intellectual development with poor or absent speech, difficulty walking or inability to walk, and various movement abnormalities, including spasticity, hypertonia, dystonia, tremor, and myoclonus. Affected individuals usually show poor overall growth, often with microcephaly, hypotonia, limb contractures, and cataracts. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_055230* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR041588	Integrase_H2C2	Domain
IPR048060	ZBTB11_BTB_POZ	Domain

Pfam: PF00096, PF00651, PF13912, PF17921

UniProt features (28 total): zinc finger region 12, compositionally biased region 4, sequence variant 4, region of interest 3, chain 1, domain 1, modified residue 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95625-F1	62.10	0.01

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 (2): 1050, 1043

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 194 (showing top): ATF_B, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, CREBP1_Q2, GGGTGGRR_PAX4_03, BILD_SRC_ONCOGENIC_SIGNATURE, AAAYRNCTG_UNKNOWN, GTGCCTT_MIR506, KMCATNNWGGA_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, NRF2_01, WHN_B, CETS1P54_01, CREBP1CJUN_01, YAGI_AML_WITH_T_9_11_TRANSLOCATION, GCCATNTTG_YY1_Q6

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
nuclear lumen	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
cellular anatomical structure	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1472 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB11	ZNF654	Q8IZM8	449
ZBTB11	TMEM151A	Q8N4L1	433
ZBTB11	NXPE3	Q969Y0	400
ZBTB11	QNG1	Q5T6V5	395
ZBTB11	CCDC140	Q96MF4	378
ZBTB11	ZGLP1	P0C6A0	377
ZBTB11	SNAPC1	Q16533	371
ZBTB11	TULP2	O00295	370
ZBTB11	PLEKHA4	Q9H4M7	351
ZBTB11	ANKRD27	Q96NW4	349
ZBTB11	TMEM65	Q6PI78	348
ZBTB11	GMEB1	Q9Y692	343
ZBTB11	MYO15B	Q96JP2	335
ZBTB11	DENR	O43583	332
ZBTB11	CGGBP1	Q9UFW8	316

IntAct

140 interactions, top by confidence:

A	B	Type	Score
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
RPL7	ZBTB24	psi-mi:“MI:0914”(association)	0.530
E4F1	ZBTB24	psi-mi:“MI:0914”(association)	0.530
RPL6	MRPS14	psi-mi:“MI:0914”(association)	0.530
ZCRB1	DKC1	psi-mi:“MI:0914”(association)	0.530
RPF1	ZNF324	psi-mi:“MI:0914”(association)	0.530
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
PPAN	PPM1G	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
KRR1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
DAXX	TNRC18	psi-mi:“MI:0914”(association)	0.530
RPL13	RRP8	psi-mi:“MI:0914”(association)	0.530
PPP1CA	ZBTB11	psi-mi:“MI:0915”(physical association)	0.370
SMAD7	ZBTB11	psi-mi:“MI:0915”(physical association)	0.370
ATP6AP2	TMUB1	psi-mi:“MI:0914”(association)	0.350
Set	ZKSCAN1	psi-mi:“MI:0914”(association)	0.350
Tp53bp1	WBP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (164): ZBTB11 (Affinity Capture-RNA), ZBTB11 (Affinity Capture-RNA), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS), ZBTB11 (Affinity Capture-MS)

ESM2 similar proteins: A0JPB4, A1L1J6, A4IFJ6, D3ZUU2, E9Q8T2, G5E8B9, O08954, O15060, O42409, O43623, O57415, O70237, O75626, O95625, P19382, P25932, P36197, P37275, P97469, Q20082, Q2EI20, Q3MHQ4, Q3UH06, Q4VBD9, Q5DU09, Q5R9W9, Q5SVQ8, Q5T0B9, Q5ZLR2, Q60542, Q60636, Q62947, Q64318, Q6DCW1, Q6GNP2, Q6INV8, Q6NRM0, Q7TS63, Q7ZVR6, Q80X44

Diamond homologs: A0JN76, A1L2U9, A1YPR0, B1WAZ8, B1WBS3, B1WBU4, B2RXF5, E1B932, G5E8B9, O14867, O15062, O43167, O43298, O88282, O88939, O93567, O95365, O95625, P10074, P28575, P41182, P41183, P52739, P97302, P97303, Q0IH98, Q0IJ29, Q0P4X6, Q0VCJ6, Q13105, Q14526, Q1H9T6, Q1L8W0, Q3B725, Q3B7M1, Q3B7N9, Q3SWU4, Q3ZB90, Q503R4, Q53G59

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 145 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
Peptide chain elongation	21	30.6×	3e-24
Viral mRNA Translation	21	30.6×	3e-24
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	21	30.3×	3e-24
Selenocysteine synthesis	21	29.0×	5e-24
Eukaryotic Translation Termination	21	29.0×	5e-24
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	21	28.4×	6e-24
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	21	28.4×	6e-24
Eukaryotic Translation Initiation	8	28.4×	4e-09

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of mRNA splicing, via spliceosome	6	35.1×	1e-06
cytoplasmic translation	22	31.1×	2e-24
RNA splicing, via transesterification reactions	5	23.8×	9e-05
ribosomal large subunit biogenesis	6	20.3×	3e-05
translation	23	18.0×	3e-20
ribosomal small subunit biogenesis	9	15.7×	6e-07
rRNA processing	14	15.1×	8e-11
regulation of alternative mRNA splicing, via spliceosome	8	14.9×	4e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	0
Uncertain significance	121
Likely benign	27
Benign	2

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1703741	NM_014415.4(ZBTB11):c.2668A>G (p.Thr890Ala)	Pathogenic
1703742	NM_014415.4(ZBTB11):c.2734C>T (p.Arg912Trp)	Pathogenic
1703743	NM_014415.4(ZBTB11):c.907A>T (p.Ile303Phe)	Pathogenic
1703744	NM_014415.4(ZBTB11):c.2779C>T (p.Arg927Ter)	Pathogenic
2506345	NM_014415.4(ZBTB11):c.85_97del (p.Val29fs)	Pathogenic
3339890	NM_014415.4(ZBTB11):c.1508dup (p.Tyr503Ter)	Pathogenic
3370365	NM_014415.4(ZBTB11):c.2708G>A (p.Arg903His)	Pathogenic
3370366	NM_014415.4:c.2977_2978del	Pathogenic
625185	NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr)	Pathogenic
625186	NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln)	Pathogenic

SpliceAI

1630 predictions. Top by Δscore:

Variant	Effect	Δscore
3:101651681:CTC:C	acceptor_gain	1.0000
3:101651683:CCTA:C	acceptor_loss	1.0000
3:101652492:TTA:T	donor_loss	1.0000
3:101652493:TA:T	donor_loss	1.0000
3:101652494:A:AC	donor_gain	1.0000
3:101652494:A:C	donor_loss	1.0000
3:101652495:C:CC	donor_gain	1.0000
3:101652495:CCTT:C	donor_gain	1.0000
3:101652532:G:C	donor_gain	1.0000
3:101652667:TACAC:T	acceptor_gain	1.0000
3:101652668:ACAC:A	acceptor_gain	1.0000
3:101652669:CAC:C	acceptor_gain	1.0000
3:101652669:CACC:C	acceptor_gain	1.0000
3:101652670:AC:A	acceptor_gain	1.0000
3:101652670:ACC:A	acceptor_loss	1.0000
3:101652671:CC:C	acceptor_gain	1.0000
3:101652672:C:CC	acceptor_gain	1.0000
3:101652672:CTAA:C	acceptor_loss	1.0000
3:101652677:A:AC	acceptor_gain	1.0000
3:101652934:CACAT:C	acceptor_gain	1.0000
3:101652936:CAT:C	acceptor_gain	1.0000
3:101652938:TCT:T	acceptor_loss	1.0000
3:101652939:C:A	acceptor_loss	1.0000
3:101652939:C:CC	acceptor_gain	1.0000
3:101652940:T:A	acceptor_loss	1.0000
3:101654702:A:AC	donor_gain	1.0000
3:101654703:C:CG	donor_gain	1.0000
3:101654817:CTCTC:C	acceptor_gain	1.0000
3:101654819:CTC:C	acceptor_gain	1.0000
3:101654822:C:CC	acceptor_gain	1.0000

AlphaMissense

6890 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:101651582:A:G	C916R	1.000
3:101651626:A:G	L901P	1.000
3:101651638:T:A	D897V	1.000
3:101651639:C:G	D897H	1.000
3:101651643:C:A	W895C	1.000
3:101651643:C:G	W895C	1.000
3:101651645:A:G	W895R	1.000
3:101651645:A:T	W895R	1.000
3:101651666:A:G	C888R	1.000
3:101651670:A:C	F886L	1.000
3:101651670:A:T	F886L	1.000
3:101651672:A:G	F886L	1.000
3:101652539:G:C	F867L	1.000
3:101652539:G:T	F867L	1.000
3:101652540:A:G	F867S	1.000
3:101652541:A:G	F867L	1.000
3:101652562:A:G	C860R	1.000
3:101652647:A:C	F831L	1.000
3:101652647:A:T	F831L	1.000
3:101652649:A:G	F831L	1.000
3:101652670:A:G	C824R	1.000
3:101652898:G:C	H784D	1.000
3:101652906:A:G	L781P	1.000
3:101652923:G:C	F775L	1.000
3:101652923:G:T	F775L	1.000
3:101652925:A:G	F775L	1.000
3:101654709:A:C	C768W	1.000
3:101654710:C:T	C768Y	1.000
3:101654711:A:G	C768R	1.000
3:101654781:A:C	F744L	1.000

dbSNP variants (sampled 300 via entrez): RS1000083406 (3:101675936 C>A), RS1000097668 (3:101666497 C>A,T), RS1000202168 (3:101675494 T>G), RS1000206619 (3:101672068 C>T), RS1000251650 (3:101663185 G>A,C), RS1000499192 (3:101675655 C>T), RS1000610341 (3:101652988 A>T), RS1000637818 (3:101666131 G>C), RS1000855518 (3:101664452 T>C), RS1000871359 (3:101670966 C>T), RS1000899908 (3:101653231 C>T), RS1000942436 (3:101662103 G>A), RS1000985616 (3:101670741 A>G,T), RS1001213479 (3:101648919 A>C), RS1001303317 (3:101668800 T>A)

Disease associations

OMIM: gene MIM:618181 | disease phenotypes: MIM:618383

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual developmental disorder, autosomal recessive 69	Strong	Autosomal recessive

Mondo (1): intellectual developmental disorder, autosomal recessive 69 (MONDO:0032715)

Orphanet (1): Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome (Orphanet:699835)

HPO phenotypes

15 total (15 of 15 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000297	Facial hypotonia
HP:0000750	Delayed speech and language development
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001321	Cerebellar hypoplasia
HP:0002119	Ventriculomegaly
HP:0002307	Drooling
HP:0002342	Moderate intellectual disability
HP:0031936	Delayed ability to walk
HP:0430028	Hyperplasia of the maxilla

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008839_533	Height	7.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5069363 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
geraniol	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
coumarin	decreases phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Indomethacin	decreases expression	1
Selenium	decreases expression	1
Silver	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Thiram	increases expression	1
Vitamin E	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases methylation	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5059496	Binding	Proteomics fold change data (SUDHL4 cells, 1h)	Data for DCP probe CCT369260

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_GZ96	K562 eGFP-ZBTB11	Cancer cell line	Female
CVCL_HC99	HEK293 eGFP-ZBTB11	Transformed cell line	Female

Clinical trials (associated diseases)

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