ANKRD33B

Summary

ANKRD33B (ankyrin repeat domain 33B, HGNC:35240) is a protein-coding gene on chromosome 5p15.2, encoding Ankyrin repeat domain-containing protein 33B (A6NCL7).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 108 total — 1 pathogenic
• MANE Select transcript: NM_001164440

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35240
Approved symbol	ANKRD33B
Name	ankyrin repeat domain 33B
Location	5p15.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000164236
Ensembl biotype	protein_coding
Entrez	651746

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000296657, ENST00000504806

RefSeq mRNA: 1 — MANE Select: NM_001164440 NM_001164440

CCDS: CCDS47191

Canonical transcript exons

ENST00000296657 — 4 exons

Exon	Start	End
ENSE00001082647	10564070	10564833
ENSE00001327242	10618333	10618462
ENSE00003493886	10638028	10638168
ENSE00003695032	10649266	10657816

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 84.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.0868 / max 1056.3810, expressed in 1464 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55716	6.3797	1153
55715	6.2047	1229
55713	0.7015	158
55712	0.3623	152
55717	0.2522	129
55714	0.1864	68

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	84.86	silver quality
Brodmann (1909) area 23	UBERON:0013554	82.53	gold quality
sural nerve	UBERON:0015488	81.68	gold quality
deltoid	UBERON:0001476	81.36	silver quality
primary visual cortex	UBERON:0002436	80.08	gold quality
Brodmann (1909) area 46	UBERON:0006483	80.08	gold quality
decidua	UBERON:0002450	79.78	gold quality
kidney epithelium	UBERON:0004819	79.59	gold quality
middle temporal gyrus	UBERON:0002771	78.91	gold quality
hindlimb stylopod muscle	UBERON:0004252	78.49	gold quality
cortical plate	UBERON:0005343	77.96	gold quality
prefrontal cortex	UBERON:0000451	77.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.91	gold quality
upper arm skin	UBERON:0004263	75.83	gold quality
superior frontal gyrus	UBERON:0002661	75.56	gold quality
postcentral gyrus	UBERON:0002581	75.51	gold quality
frontal cortex	UBERON:0001870	75.50	gold quality
ileal mucosa	UBERON:0000331	75.47	silver quality
biceps brachii	UBERON:0001507	75.33	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	75.26	gold quality
occipital lobe	UBERON:0002021	75.12	gold quality
neocortex	UBERON:0001950	74.76	gold quality
cerebral cortex	UBERON:0000956	74.50	gold quality
Brodmann (1909) area 9	UBERON:0013540	74.33	gold quality
cartilage tissue	UBERON:0002418	74.17	gold quality
right frontal lobe	UBERON:0002810	74.04	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	73.98	silver quality
bone marrow cell	CL:0002092	73.91	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.77	gold quality
Ammon’s horn	UBERON:0001954	73.68	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	20.00
E-GEOD-137537	no	3.47
E-ANND-3	no	2.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

253 targeting ANKRD33B, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-23A-3P	99.95	74.24	3163

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd33bb	ENSDARG00000015589
danio_rerio	ankrd33ba	ENSDARG00000058357
mus_musculus	Ankrd33b	ENSMUSG00000022237
rattus_norvegicus	Ankrd33b	ENSRNOG00000010888

Paralogs (4): FEM1A (ENSG00000141965), FEM1C (ENSG00000145780), ANKRD33 (ENSG00000167612), FEM1B (ENSG00000169018)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 33B — A6NCL7 (reviewed: A6NCL7)

All UniProt accessions (2): A6NCL7, D6R912

RefSeq proteins (1): NP_001157912* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF00023, PF12796

UniProt features (14 total): repeat 5, compositionally biased region 4, region of interest 2, chain 1, modified residue 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NCL7-F1	67.74	0.33

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): 405

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 138 (showing top): LU_IL4_SIGNALING, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, MORI_PRE_BI_LYMPHOCYTE_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, CUI_TCF21_TARGETS_2_DN, CHEN_METABOLIC_SYNDROM_NETWORK, MEISSNER_NPC_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, ZHANG_RESPONSE_TO_IKK_INHIBITOR_AND_TNF_UP, MIKKELSEN_NPC_HCP_WITH_H3K4ME3_AND_H3K27ME3, KOYAMA_SEMA3B_TARGETS_DN, MARTENS_BOUND_BY_PML_RARA_FUSION, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, WARTERS_RESPONSE_TO_IR_SKIN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

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

1474 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD33B	REEP6	Q96HR9	467
ANKRD33B	C19orf73	Q9NVV2	447
ANKRD33B	SLC16A12	Q6ZSM3	415
ANKRD33B	WDR17	Q8IZU2	390
ANKRD33B	SH3RF3	Q8TEJ3	387
ANKRD33B	ZFYVE28	Q9HCC9	378
ANKRD33B	DPY19L4	Q7Z388	367
ANKRD33B	TMEM141	Q96I45	366
ANKRD33B	CCDC158	Q5M9N0	365
ANKRD33B	ZCCHC24	Q8N2G6	361
ANKRD33B	ZNF771	Q7L3S4	356
ANKRD33B	TVP23C	Q96ET8	354
ANKRD33B	TMEM140	Q9NV12	353
ANKRD33B	A0A0A6YYB9	A0A0A6YYB9	349
ANKRD33B	GART	P22102	348

IntAct

4 interactions, top by confidence:

A	B	Type	Score
PPP3R2	ANKRD33B	psi-mi:“MI:0914”(association)	0.350
HPCA	ANKRD33B	psi-mi:“MI:0914”(association)	0.350
NCALD	ANKRD33B	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): ANKRD33B (Affinity Capture-RNA), ANKRD33B (Affinity Capture-RNA), ANKRD33B (Affinity Capture-RNA), ANKRD33B (Affinity Capture-MS), ANKRD33B (Affinity Capture-MS), ANKRD33B (Affinity Capture-MS), ANKRD33B (Positive Genetic), ANKRD33B (Affinity Capture-RNA)

ESM2 similar proteins: A0A8I3QA39, A2A6T1, A2A9T0, A2AHG0, A4FUG8, A4IFI1, A5PKL7, A6NCL7, A7MCY6, D3ZD05, E1U8D0, F1MRK3, G3V735, O14529, O15049, O60299, O94964, O95153, P70298, Q1LZH7, Q3LUD3, Q3LUD4, Q3U0L2, Q499E4, Q569K6, Q5JTD0, Q5RCR6, Q5SPX1, Q5XIA0, Q63ZY3, Q6DG50, Q6P9J5, Q6PDH0, Q7TNF8, Q86UU1, Q86X02, Q8BX02, Q8C7U1, Q8IYY4, Q8K1Q4

Diamond homologs: A6NCL7, A6NHS1, P0C965, Q02979, Q3C1V9, Q3U0L2, Q61982, Q6KAE5, Q7Z3H0, Q8BXP5, Q9FY48, Q9R172, Q9UM47, Q9Z1P7, O36972, P0C964, P0C966, Q76U48, A0A3B3IT33, A6NCK2, A6NDI0, O35409, O77564, P0CI25, P0CI26, P70627, Q04609, Q96BQ3, Q9BSJ1, Q9CZR2, Q9Y3Q0, A2AS55, A6QR20, Q7M6U3, Q8C0T1, Q94CT7, A2ARS0, O15084, P25963, Q04861

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	92
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
148055	GRCh38/hg38 5p15.31-15.2(chr5:8824306-14246099)x1	Pathogenic

SpliceAI

1568 predictions. Top by Δscore:

Variant	Effect	Δscore
5:10564829:GCAGG:G	donor_gain	1.0000
5:10564832:GG:G	donor_gain	1.0000
5:10564832:GGGTA:G	donor_loss	1.0000
5:10564833:GG:G	donor_gain	1.0000
5:10564833:GGTA:G	donor_loss	1.0000
5:10564834:G:GA	donor_loss	1.0000
5:10564834:G:GG	donor_gain	1.0000
5:10564835:T:A	donor_loss	1.0000
5:10618326:T:G	acceptor_gain	1.0000
5:10618327:TTCTA:T	acceptor_loss	1.0000
5:10618328:TCTA:T	acceptor_loss	1.0000
5:10618329:CTAGA:C	acceptor_loss	1.0000
5:10618330:TA:T	acceptor_loss	1.0000
5:10618331:A:AG	acceptor_gain	1.0000
5:10618331:AGACC:A	acceptor_gain	1.0000
5:10618332:G:GA	acceptor_gain	1.0000
5:10618332:G:T	acceptor_loss	1.0000
5:10618332:GA:G	acceptor_gain	1.0000
5:10618332:GAC:G	acceptor_gain	1.0000
5:10618332:GACC:G	acceptor_gain	1.0000
5:10618332:GACCG:G	acceptor_gain	1.0000
5:10618459:GCAG:G	donor_gain	1.0000
5:10618461:AGG:A	donor_loss	1.0000
5:10618463:GT:G	donor_loss	1.0000
5:10618464:T:G	donor_loss	1.0000
5:10638068:T:TA	acceptor_gain	1.0000
5:10649264:A:AG	acceptor_gain	1.0000
5:10649264:AGG:A	acceptor_gain	1.0000
5:10649265:G:GG	acceptor_gain	1.0000
5:10649265:GGG:G	acceptor_gain	1.0000

AlphaMissense

3172 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:10618352:G:A	C129Y	0.997
5:10618353:C:G	C129W	0.997
5:10618421:A:C	D152A	0.997
5:10618421:A:T	D152V	0.997
5:10650000:T:A	W458R	0.997
5:10650000:T:C	W458R	0.997
5:10650002:G:C	W458C	0.997
5:10650002:G:T	W458C	0.997
5:10618420:G:C	D152H	0.996
5:10618434:C:A	N156K	0.996
5:10618434:C:G	N156K	0.996
5:10618422:C:A	D152E	0.995
5:10618422:C:G	D152E	0.995
5:10638052:T:C	L174S	0.995
5:10638092:C:A	N187K	0.995
5:10638092:C:G	N187K	0.995
5:10638119:A:C	K196N	0.995
5:10638119:A:T	K196N	0.995
5:10618351:T:C	C129R	0.993
5:10618439:C:A	A158D	0.993
5:10618451:C:A	A162D	0.993
5:10638118:A:T	K196I	0.993
5:10649318:G:C	W230C	0.993
5:10649318:G:T	W230C	0.993
5:10650011:G:C	K461N	0.993
5:10650011:G:T	K461N	0.993
5:10618349:C:A	A128D	0.992
5:10649316:T:A	W230R	0.992
5:10649316:T:C	W230R	0.992
5:10618430:G:T	G155V	0.991

dbSNP variants (sampled 300 via entrez): RS1000035661 (5:10616902 C>G), RS1000133567 (5:10580883 C>T), RS1000147850 (5:10610078 G>A), RS1000152131 (5:10650916 A>G), RS1000183204 (5:10574627 C>T), RS1000184740 (5:10592379 A>G), RS1000186717 (5:10587343 C>T), RS1000222233 (5:10649736 C>T), RS1000257882 (5:10594047 G>A), RS1000300139 (5:10614069 C>A,T), RS1000314252 (5:10608241 T>G), RS1000325152 (5:10615909 G>A,C), RS1000341693 (5:10625097 A>G), RS1000350859 (5:10581553 T>G), RS1000381154 (5:10564108 G>C)

Disease associations

OMIM: gene `` | 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
GCST004600_153	Eosinophil percentage of white cells	6.000000e-11
GCST004606_134	Eosinophil count	4.000000e-10
GCST004617_98	Eosinophil percentage of granulocytes	2.000000e-09
GCST006053_2	Dermatomyositis or juvenile dermatomyositis	5.000000e-06
GCST90002381_214	Eosinophil count	5.000000e-21
GCST90002382_107	Eosinophil percentage of white cells	3.000000e-25

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	4
sodium arsenite	increases expression	3
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	2
mercuric bromide	increases expression, affects cotreatment	2
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Aflatoxin B1	increases expression, affects methylation	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
entinostat	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	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	increases expression	1
Ethanol	increases expression	1
Arsenic	affects methylation	1
Cadmium	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Cisplatin	decreases expression	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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