ABTB2

Summary

ABTB2 (ankyrin repeat and BTB domain containing 2, HGNC:23842) is a protein-coding gene on chromosome 11p13, encoding Ankyrin repeat and BTB/POZ domain-containing protein 2 (Q8N961). May be involved in the initiation of hepatocyte growth.

Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance.

Source: NCBI Gene 25841 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 215 total — 11 pathogenic
• MANE Select transcript: NM_145804

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23842
Approved symbol	ABTB2
Name	ankyrin repeat and BTB domain containing 2
Location	11p13
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP586C1619, BTBD22, ABTB2A
Ensembl gene	ENSG00000166016
Ensembl biotype	protein_coding
OMIM	621014
Entrez	25841

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000435224, ENST00000530814, ENST00000868012

RefSeq mRNA: 1 — MANE Select: NM_145804 NM_145804

CCDS: CCDS7890

Canonical transcript exons

ENST00000435224 — 17 exons

Exon	Start	End
ENSE00001098982	34160903	34161081
ENSE00001098991	34165260	34165356
ENSE00001098999	34167259	34167360
ENSE00001099003	34164686	34164821
ENSE00001099027	34170906	34171071
ENSE00001099032	34167903	34167992
ENSE00001142579	34173155	34173307
ENSE00001279073	34154265	34154378
ENSE00001279078	34154701	34154769
ENSE00001279083	34160248	34160353
ENSE00001279091	34162576	34162805
ENSE00001293550	34159906	34160008
ENSE00001298965	34159296	34159386
ENSE00001308032	34150987	34152584
ENSE00001710074	34356701	34358010
ENSE00003513148	34197325	34197538
ENSE00003533673	34204544	34204690

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 98.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9405 / max 325.4795, expressed in 1508 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119248	7.6008	1462
119249	1.3396	641

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.58	gold quality
oocyte	CL:0000023	96.54	gold quality
cartilage tissue	UBERON:0002418	91.42	gold quality
ventricular zone	UBERON:0003053	88.70	gold quality
decidua	UBERON:0002450	86.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.49	gold quality
gluteal muscle	UBERON:0002000	86.31	silver quality
ganglionic eminence	UBERON:0004023	85.39	gold quality
spinal cord	UBERON:0002240	85.34	gold quality
inferior olivary complex	UBERON:0002127	84.29	gold quality
triceps brachii	UBERON:0001509	84.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	83.92	gold quality
tongue squamous epithelium	UBERON:0006919	83.50	gold quality
type B pancreatic cell	CL:0000169	83.44	gold quality
olfactory bulb	UBERON:0002264	83.35	gold quality
gastrocnemius	UBERON:0001388	83.25	gold quality
muscle of leg	UBERON:0001383	82.75	gold quality
apex of heart	UBERON:0002098	82.62	gold quality
muscle organ	UBERON:0001630	82.38	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	82.38	gold quality
vastus lateralis	UBERON:0001379	81.63	silver quality
quadriceps femoris	UBERON:0001377	81.61	silver quality
jejunal mucosa	UBERON:0000399	81.54	gold quality
heart right ventricle	UBERON:0002080	81.45	silver quality
adrenal tissue	UBERON:0018303	81.37	gold quality
biceps brachii	UBERON:0001507	81.35	gold quality
right atrium auricular region	UBERON:0006631	81.33	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	81.28	gold quality
amniotic fluid	UBERON:0000173	81.04	gold quality
esophagus squamous epithelium	UBERON:0006920	80.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	2319.77
E-CURD-119	yes	30.96
E-ANND-3	no	2.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting ABTB2, 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-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-6857-5P	99.87	65.32	985

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	abtb2a	ENSDARG00000059751
danio_rerio	abtb2b	ENSDARG00000062000
mus_musculus	Abtb2	ENSMUSG00000032724
rattus_norvegicus	Abtb2	ENSRNOG00000008510
drosophila_melanogaster	BTBD9	FBGN0030228
drosophila_melanogaster	CG17068	FBGN0031098
drosophila_melanogaster	lute	FBGN0262871
caenorhabditis_elegans		WBGENE00015463

Paralogs (11): BTBD1 (ENSG00000064726), ABTB1 (ENSG00000114626), SPOP (ENSG00000121067), KBTBD4 (ENSG00000123444), BTBD3 (ENSG00000132640), BTBD2 (ENSG00000133243), SPOPL (ENSG00000144228), ABTB3 (ENSG00000151136), KLHL11 (ENSG00000178502), BTBD9 (ENSG00000183826), BTBD6 (ENSG00000184887)

Protein

Protein identifiers

Ankyrin repeat and BTB/POZ domain-containing protein 2 — Q8N961 (reviewed: Q8N961)

All UniProt accessions (1): Q8N961

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in the initiation of hepatocyte growth.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N961-1	1	yes
Q8N961-2	2

RefSeq proteins (1): NP_665803* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR009072	Histone-fold	Homologous_superfamily
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR048063	ABTB2_BTB_POZ	Domain
IPR052089	Ankyrin-BTB/POZ_domain	Family
IPR059008	ABTB2/3_histone	Domain

Pfam: PF00023, PF00651, PF12796, PF26281

UniProt features (10 total): repeat 4, sequence variant 2, chain 1, domain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N961-F1	77.05	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 232 (showing top): AHRARNT_01, BENPORATH_ES_WITH_H3K27ME3, AP4_Q6, TGACCTY_ERR1_Q2, CAGCTG_AP4_Q5, BOYLAN_MULTIPLE_MYELOMA_D_DN, CATRRAGC_UNKNOWN, ONKEN_UVEAL_MELANOMA_UP, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, FOSTER_TOLERANT_MACROPHAGE_UP, HEN1_01, TGIF_01, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, LIU_CMYB_TARGETS_UP, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE

GO Biological Process (1): cellular response to toxic substance (GO:0097237)

GO Molecular Function (2): protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to toxic substance	1
cellular response to chemical stimulus	1
protein dimerization activity	1
binding	1

Protein interactions and networks

STRING

634 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABTB2	DEPDC7	Q96QD5	532
ABTB2	A0A2R8YGN2	A0A2R8YGN2	526
ABTB2	LRRC42	Q9Y546	413
ABTB2	CKAP5	Q14008	410
ABTB2	C11orf91	Q3C1V1	399
ABTB2	TCP11L1	Q9NUJ3	397
ABTB2	CTXN2	P0C2S0	397
ABTB2	ATP8B4	Q8TF62	379
ABTB2	BICRAL	Q6AI39	371
ABTB2	ANKRD40	Q6AI12	352
ABTB2	RNFT1	Q5M7Z0	334
ABTB2	BTBD6	Q96KE9	312
ABTB2	CHST2	Q9Y4C5	308
ABTB2	ADGRA1	Q86SQ6	303
ABTB2	GGT6	Q6P531	300

IntAct

14 interactions, top by confidence:

A	B	Type	Score
HRG	PLSCR1	psi-mi:“MI:0914”(association)	0.590
DYNLT2B	SNX2	psi-mi:“MI:0914”(association)	0.530
ABTB2	YWHAE	psi-mi:“MI:0915”(physical association)	0.400
SFN	ABTB2	psi-mi:“MI:0915”(physical association)	0.400
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
HS1BP3	PDXDC1	psi-mi:“MI:0914”(association)	0.350
CAMK4	CNOT1	psi-mi:“MI:0914”(association)	0.350
ABTB2	IFT56	psi-mi:“MI:0914”(association)	0.350
HS1BP3	TAF5L	psi-mi:“MI:0914”(association)	0.350
HS1BP3	MPO	psi-mi:“MI:0914”(association)	0.350

BioGRID (125): ABTB2 (Affinity Capture-MS), ABTB2 (Affinity Capture-MS), ABTB2 (Affinity Capture-MS), ABTB2 (Affinity Capture-MS), ABTB2 (Affinity Capture-RNA), ABTB2 (Affinity Capture-RNA), ABTB2 (Affinity Capture-Western), ABTB2 (Affinity Capture-MS), ABTB2 (Affinity Capture-MS), ABTB2 (Affinity Capture-RNA), ZNF281 (Affinity Capture-MS), BNIP3 (Affinity Capture-MS), MTO1 (Affinity Capture-MS), ABTB2 (Affinity Capture-MS), PLEKHA5 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3NGV2, A2VE47, A4IG72, A7E2V1, D3Z2R5, F1PCT7, O43909, P02786, P04844, P25235, P57716, Q07891, Q0VCN6, Q28120, Q28DV7, Q2V905, Q5R9Q9, Q5RBM1, Q5RDH6, Q5XIA1, Q5ZJH2, Q5ZL00, Q62351, Q64255, Q6DDX8, Q6NZ07, Q7TMC8, Q8BXQ2, Q8C7X2, Q8CGU6, Q8K224, Q8N766, Q8N961, Q8R553, Q8VCM8, Q8VDL4, Q92542, Q969N2, Q969V3, Q99JH7

Diamond homologs: A5DJJ2, A6QL63, B1WBU4, B7U179, B9DHT4, O08764, P0C7A6, Q0VCJ6, Q1LVW0, Q5XI58, Q5ZJU2, Q6GQW0, Q6YCH2, Q7KRI2, Q7TQI7, Q811F1, Q8CDE2, Q8N961, Q96BR9, Q9CWH1, A0JMG1, A1L4W5, B0WWP2, C9JJ37, D2HEW7, D3Z8N4, D3ZZC3, D4A2K4, E0CZ16, E1B932, F1LZ52, F1LZF0, F1MBP6, O43791, O95198, P0DMR5, P0DMR6, P28575, P42283, P42284

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	0
Uncertain significance	177
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	Pathogenic
1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	Pathogenic
253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	Pathogenic
3391910	GRCh37/hg19 11p14.3-12(chr11:22428384-37196643)x1	Pathogenic
395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	Pathogenic
4279443	GRCh37/hg19 11p14.1-13(chr11:30171191-35483727)x1	Pathogenic
441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	Pathogenic
441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	Pathogenic
58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	Pathogenic
59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	Pathogenic
688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	Pathogenic

SpliceAI

2966 predictions. Top by Δscore:

Variant	Effect	Δscore
11:34152580:TGGAT:T	acceptor_gain	1.0000
11:34152581:GGAT:G	acceptor_gain	1.0000
11:34152582:GAT:G	acceptor_gain	1.0000
11:34152582:GATC:G	acceptor_loss	1.0000
11:34152583:AT:A	acceptor_gain	1.0000
11:34152583:ATCT:A	acceptor_loss	1.0000
11:34152585:C:CC	acceptor_gain	1.0000
11:34152587:G:C	acceptor_gain	1.0000
11:34154259:CCTCA:C	donor_loss	1.0000
11:34154260:CTCA:C	donor_loss	1.0000
11:34154261:TCACC:T	donor_loss	1.0000
11:34154262:CACCT:C	donor_loss	1.0000
11:34154264:C:CT	donor_loss	1.0000
11:34154376:CAG:C	acceptor_gain	1.0000
11:34154695:TCTCA:T	donor_loss	1.0000
11:34154696:CTCA:C	donor_loss	1.0000
11:34154697:TCAC:T	donor_loss	1.0000
11:34154698:CAC:C	donor_loss	1.0000
11:34154699:A:C	donor_loss	1.0000
11:34154766:TCAT:T	acceptor_gain	1.0000
11:34154767:CAT:C	acceptor_gain	1.0000
11:34154767:CATC:C	acceptor_gain	1.0000
11:34154768:AT:A	acceptor_gain	1.0000
11:34154769:TCTG:T	acceptor_loss	1.0000
11:34154770:C:A	acceptor_loss	1.0000
11:34154770:C:CC	acceptor_gain	1.0000
11:34154771:T:A	acceptor_loss	1.0000
11:34159295:C:CA	donor_loss	1.0000
11:34159313:T:TA	donor_gain	1.0000
11:34159384:AACC:A	acceptor_loss	1.0000

AlphaMissense

6716 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:34159912:G:A	S867F	1.000
11:34159924:A:G	L863P	1.000
11:34159924:A:T	L863Q	1.000
11:34159939:G:T	A858E	1.000
11:34159966:A:G	F849S	1.000
11:34159981:A:G	M844T	1.000
11:34159998:A:C	F838L	1.000
11:34159998:A:T	F838L	1.000
11:34159999:A:G	F838S	1.000
11:34160000:A:G	F838L	1.000
11:34173276:A:G	W426R	1.000
11:34173276:A:T	W426R	1.000
11:34154269:G:T	A959D	0.999
11:34154350:A:G	L932P	0.999
11:34154365:G:T	A927D	0.999
11:34154366:C:G	A927P	0.999
11:34154377:A:G	L923P	0.999
11:34154753:A:G	L905P	0.999
11:34159384:A:G	F870S	0.999
11:34159912:G:T	S867Y	0.999
11:34159913:A:G	S867P	0.999
11:34159924:A:C	L863R	0.999
11:34159927:A:G	L862P	0.999
11:34159927:A:T	L862Q	0.999
11:34159935:A:C	H859Q	0.999
11:34159935:A:T	H859Q	0.999
11:34159936:T:C	H859R	0.999
11:34159937:G:A	H859Y	0.999
11:34159937:G:C	H859D	0.999
11:34159937:G:T	H859N	0.999

dbSNP variants (sampled 300 via entrez): RS1000008634 (11:34356765 G>C), RS1000029253 (11:34296936 C>A), RS1000045925 (11:34280923 C>T), RS1000057520 (11:34239435 A>G), RS1000069444 (11:34153914 G>A), RS1000094489 (11:34208600 C>A), RS1000098041 (11:34344599 C>A), RS1000102151 (11:34321072 C>T), RS1000121602 (11:34234337 C>T), RS1000126027 (11:34266995 T>C), RS1000135378 (11:34290156 G>A), RS1000135822 (11:34245267 C>G,T), RS1000153717 (11:34218914 T>G), RS1000188815 (11:34245557 C>A,G,T), RS1000206131 (11:34349173 G>A,T)

Disease associations

OMIM: gene MIM:621014 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008159_64	Waist-to-hip ratio adjusted for BMI	5.000000e-06
GCST008758_11	Pre-treatment viral load in HIV-1 infection	5.000000e-21

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0010125	viral load

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression	4
sodium arsenite	increases abundance, increases expression	3
(+)-JQ1 compound	increases expression	2
Acetaminophen	increases expression	2
Arsenic	increases expression, affects methylation, increases abundance	2
Benzo(a)pyrene	increases methylation, decreases expression	2
Diethylhexyl Phthalate	increases abundance, increases methylation, increases expression	2
Doxorubicin	affects expression, decreases expression	2
Estradiol	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cadmium Chloride	increases expression	2
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
dinophysistoxin 1	increases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
PCI 5002	affects cotreatment, increases expression	1
Caffeine	increases phosphorylation	1
Cisplatin	decreases expression	1
Demecolcine	increases expression	1
Diuron	decreases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects expression	1

Clinical trials (associated diseases)

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