KBTBD11

Summary

KBTBD11 (kelch repeat and BTB domain containing 11, HGNC:29104) is a protein-coding gene on chromosome 8p23.3, encoding Kelch repeat and BTB domain-containing protein 11 (O94819).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 199 total
• MANE Select transcript: NM_014867

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29104
Approved symbol	KBTBD11
Name	kelch repeat and BTB domain containing 11
Location	8p23.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0711, KLHDC7C
Ensembl gene	ENSG00000176595
Ensembl biotype	protein_coding
OMIM	618794
Entrez	9920

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000320248, ENST00000905953, ENST00000914270, ENST00000947466

RefSeq mRNA: 1 — MANE Select: NM_014867 NM_014867

CCDS: CCDS34795

Canonical transcript exons

ENST00000320248 — 2 exons

Exon	Start	End
ENSE00001260866	1973677	1973935
ENSE00001291803	2000285	2006936

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 96.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.1927 / max 154.7633, expressed in 935 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87197	1.7319	471
87199	1.2971	445
87202	1.0781	409
87201	0.3763	110
87198	0.2569	125
87203	0.1913	92
87195	0.1097	53
87200	0.0854	42
87196	0.0659	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	96.46	gold quality
superior frontal gyrus	UBERON:0002661	93.54	gold quality
ganglionic eminence	UBERON:0004023	92.16	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.02	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.82	gold quality
primary visual cortex	UBERON:0002436	91.47	gold quality
anterior cingulate cortex	UBERON:0009835	90.87	gold quality
cerebral cortex	UBERON:0000956	90.85	gold quality
frontal cortex	UBERON:0001870	90.76	gold quality
right frontal lobe	UBERON:0002810	90.68	gold quality
prefrontal cortex	UBERON:0000451	90.57	gold quality
amygdala	UBERON:0001876	90.01	gold quality
temporal lobe	UBERON:0001871	90.00	gold quality
nucleus accumbens	UBERON:0001882	89.59	gold quality
Ammon’s horn	UBERON:0001954	88.99	gold quality
caudate nucleus	UBERON:0001873	88.53	gold quality
ventricular zone	UBERON:0003053	88.52	gold quality
putamen	UBERON:0001874	88.40	gold quality
substantia nigra	UBERON:0002038	87.52	gold quality
brain	UBERON:0000955	87.37	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	87.10	gold quality
cerebellum	UBERON:0002037	86.25	gold quality
cerebellar cortex	UBERON:0002129	86.19	gold quality
cerebellar hemisphere	UBERON:0002245	86.11	gold quality
hypothalamus	UBERON:0001898	85.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.06	gold quality
corpus callosum	UBERON:0002336	83.69	gold quality
mucosa of transverse colon	UBERON:0004991	83.25	gold quality
duodenum	UBERON:0002114	82.43	gold quality
monocyte	CL:0000576	82.37	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

104 targeting KBTBD11, 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-3646	100.00	73.56	5283
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 1)

• Our study highlighted the high colorectal cancer risk of people carrying MYC rs6983267 G and KBTBD11 rs11777210 C alleles (PMID:29267898)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kbtbd11	ENSDARG00000104958
mus_musculus	Kbtbd11	ENSMUSG00000055675
rattus_norvegicus	Kbtbd11	ENSRNOG00000012333

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch repeat and BTB domain-containing protein 11 — O94819 (reviewed: O94819)

Alternative names: Chronic myelogenous leukemia-associated protein, Kelch domain-containing protein 7B

All UniProt accessions (1): O94819

RefSeq proteins (1): NP_055682* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR006652	Kelch_1	Repeat
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR052310	Kelch/BTB_domain_protein	Family

Pfam: PF00651, PF01344

UniProt features (14 total): modified residue 4, repeat 4, compositionally biased region 3, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94819-F1	75.49	0.55

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 (4): 64, 67, 87, 107

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 179 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, BROWNE_HCMV_INFECTION_24HR_UP, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, SCHLINGEMANN_SKIN_CARCINOGENESIS_TPA_UP, CUI_TCF21_TARGETS_2_DN, CERVERA_SDHB_TARGETS_1_UP, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, YAGI_AML_WITH_11Q23_REARRANGED, ZHENG_BOUND_BY_FOXP3, NAKAYAMA_SOFT_TISSUE_TUMORS_PCA1_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, KIM_ALL_DISORDERS_OLIGODENDROCYTE_NUMBER_CORR_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

340 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KBTBD11	FGD2	Q7Z6J4	492
KBTBD11	ZNF596	Q8TC21	474
KBTBD11	OR4F21	O95013	432
KBTBD11	ERICH1	Q86X53	419
KBTBD11	TDRP	Q86YL5	399
KBTBD11	RBBP8NL	Q8NC74	394
KBTBD11	CFAP73	A6NFT4	372
KBTBD11	ARHGEF10	O15013	369
KBTBD11	SERPINB6	P35237	362
KBTBD11	FAM174C	Q9BVV8	355
KBTBD11	DLGAP2	Q9P1A6	355
KBTBD11	INAVA	Q3KP66	349
KBTBD11	CLN8	Q9UBY8	349
KBTBD11	FBXO25	Q8TCJ0	348
KBTBD11	DPY19L3	Q6ZPD9	324

IntAct

3 interactions, top by confidence:

A	B	Type	Score
PIP	RBM47	psi-mi:“MI:0914”(association)	0.350
ISCA1	BACH1	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): KBTBD11 (Affinity Capture-Western), KBTBD11 (Affinity Capture-MS), KBTBD11 (Affinity Capture-MS), KBTBD11 (Proximity Label-MS), KBTBD11 (Affinity Capture-RNA), KBTBD11 (Affinity Capture-MS), AKT1 (Affinity Capture-Western), KBTBD11 (Affinity Capture-Western), AKT1 (Reconstituted Complex)

ESM2 similar proteins: A1A4I4, A5PKD8, A6NED2, A8MQ27, O35465, O60294, O75808, O94819, O95382, P70268, Q0MW30, Q14318, Q16512, Q2T9J0, Q32NY4, Q32P44, Q3B7U9, Q3MHW0, Q3U5Q7, Q3USL1, Q4R828, Q561R2, Q5EBM0, Q5EBP3, Q5PQP9, Q60806, Q63433, Q6PAT0, Q7T0L4, Q8BNW9, Q8BTU7, Q8BYR1, Q8IYL2, Q8N5A5, Q8NEP7, Q8VC03, Q8VHS5, Q8WXI3, Q91ZT7, Q96C12

Diamond homologs: A2APT9, A6NCF5, C9JR72, O94819, Q2T9Z7, Q5R866, Q5RDY3, Q5VTJ3, Q5ZLD3, Q6PF15, Q6ZPT1, Q8BFQ9, Q8BGY4, Q8BNW9, Q8C3F7, Q8C828, Q920Q8, Q96G42, Q9P2J3, Q9P2K6, Q25386, Q3ZB90, Q5U575, Q6GQU2, Q9C6Z0, Q9SVA0, A0A1B8YAB1, A1YPR0, A9JRD8, B0WWP2, B1H285, B1WBS3, B1WBU4, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	189
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1032 predictions. Top by Δscore:

Variant	Effect	Δscore
8:1973932:CGAG:C	donor_loss	1.0000
8:1973933:GAGGT:G	donor_loss	1.0000
8:1973934:AGGT:A	donor_loss	1.0000
8:1973935:GGT:G	donor_loss	1.0000
8:1973936:GTA:G	donor_loss	1.0000
8:1973937:T:G	donor_loss	1.0000
8:2006543:A:AG	acceptor_gain	1.0000
8:2006544:G:GA	acceptor_gain	1.0000
8:1998792:A:AG	acceptor_gain	0.9900
8:1998792:AT:A	acceptor_gain	0.9900
8:1998793:T:G	acceptor_gain	0.9900
8:2003046:G:T	donor_gain	0.9900
8:2006543:AGT:A	acceptor_gain	0.9900
8:2006544:GT:G	acceptor_gain	0.9900
8:2006544:GTG:G	acceptor_gain	0.9900
8:1973931:GCGAG:G	donor_gain	0.9800
8:1973936:G:GG	donor_gain	0.9800
8:1973985:G:T	donor_gain	0.9800
8:1997701:G:GT	donor_gain	0.9800
8:2006539:TTTCA:T	acceptor_loss	0.9800
8:2006540:TTCA:T	acceptor_loss	0.9800
8:2006541:TCAGT:T	acceptor_loss	0.9800
8:2006542:CAGTG:C	acceptor_loss	0.9800
8:2006543:AG:A	acceptor_loss	0.9800
8:2006544:GTGGC:G	acceptor_gain	0.9800
8:2006572:ATCCG:A	acceptor_gain	0.9800
8:1973985:G:GT	donor_gain	0.9700
8:1997692:G:GA	donor_gain	0.9700
8:1998933:G:GT	donor_gain	0.9700
8:2005953:C:CA	acceptor_gain	0.9700

AlphaMissense

3937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:2002528:T:C	F446L	1.000
8:2002530:C:A	F446L	1.000
8:2002530:C:G	F446L	1.000
8:2002630:T:A	W480R	1.000
8:2002630:T:C	W480R	1.000
8:2002632:G:C	W480C	1.000
8:2002632:G:T	W480C	1.000
8:2001686:T:C	F165S	0.999
8:2002268:A:T	N359I	0.999
8:2002495:T:A	W435R	0.999
8:2002495:T:C	W435R	0.999
8:2002497:G:C	W435C	0.999
8:2002497:G:T	W435C	0.999
8:2002528:T:A	F446I	0.999
8:2002529:T:C	F446S	0.999
8:2002529:T:G	F446C	0.999
8:2002609:T:G	Y473D	0.999
8:2002610:A:C	Y473S	0.999
8:2002706:T:C	F505S	0.999
8:2002771:T:G	Y527D	0.999
8:2001676:A:C	S162R	0.998
8:2001678:C:A	S162R	0.998
8:2001678:C:G	S162R	0.998
8:2002203:G:C	W337C	0.998
8:2002203:G:T	W337C	0.998
8:2002345:T:G	Y385D	0.998
8:2002366:T:A	W392R	0.998
8:2002366:T:C	W392R	0.998
8:2002368:G:C	W392C	0.998
8:2002368:G:T	W392C	0.998

dbSNP variants (sampled 300 via entrez): RS1000026692 (8:1982644 G>A), RS1000113146 (8:2004767 T>C,G), RS1000219272 (8:1982111 A>C,T), RS1000324478 (8:1981773 C>A,G), RS1000328418 (8:2003089 C>T), RS1000445737 (8:1989801 G>A), RS1000460305 (8:1981931 G>A), RS1000513759 (8:1985312 G>T), RS1000524800 (8:2001582 C>A,G,T), RS1000559988 (8:1981113 C>A), RS1000578908 (8:1985960 T>A,C), RS1000672897 (8:1988955 C>T), RS1000690317 (8:1978679 T>C), RS1000798372 (8:1980913 A>G), RS1000951916 (8:1993334 C>T)

Disease associations

OMIM: gene MIM:618794 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001762_39	Obesity-related traits	3.000000e-06
GCST002671_9	Toenail selenium levels	2.000000e-06
GCST009442_8	Age-related cognitive decline (executive function) (slope of z-scores)	9.000000e-06
GCST010796_3676	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_3677	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_3678	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007710	cognitive decline measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	6
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Panobinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Cisplatin	decreases expression	2
Estradiol	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
aflatoxin B2	increases methylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Cyclophosphamide	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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