ANKRD36B

Summary

ANKRD36B (ankyrin repeat domain 36B, HGNC:29333) is a protein-coding gene on chromosome 2q11.2, encoding Ankyrin repeat domain-containing protein 36B (Q8N2N9).

Enables identical protein binding activity.

Source: NCBI Gene 57730 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001393939

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29333
Approved symbol	ANKRD36B
Name	ankyrin repeat domain 36B
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21281
Ensembl gene	ENSG00000196912
Ensembl biotype	protein_coding
Entrez	57730

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 nonsense_mediated_decay, 2 protein_coding, 2 retained_intron

ENST00000258459, ENST00000359901, ENST00000419390, ENST00000438709, ENST00000443455, ENST00000488634, ENST00000615794

RefSeq mRNA: 2 — MANE Select: NM_001393939 NM_001393939, NM_025190

CCDS: CCDS74543

Canonical transcript exons

ENST00000359901 — 44 exons

Exon	Start	End
ENSE00003462250	97557104	97557132
ENSE00003483445	97558966	97558994
ENSE00003518860	97576379	97576446
ENSE00003550027	97555060	97555132
ENSE00003551740	97509581	97509733
ENSE00003554450	97507564	97507657
ENSE00003571488	97551452	97551480
ENSE00003586681	97589525	97589877
ENSE00003593696	97556937	97557009
ENSE00003606128	97584944	97585117
ENSE00003621045	97578906	97579043
ENSE00003622523	97553343	97553371
ENSE00003649275	97547703	97547731
ENSE00003652947	97507036	97507065
ENSE00003653403	97553168	97553240
ENSE00003666672	97551289	97551361
ENSE00003670292	97585284	97585398
ENSE00003671734	97558799	97558871
ENSE00003671826	97549586	97549614
ENSE00003680599	97555226	97555254
ENSE00003691104	97549419	97549491
ENSE00003711780	97536300	97536372
ENSE00003712221	97547536	97547608
ENSE00003712892	97523326	97523467
ENSE00003713745	97542079	97542107
ENSE00003715497	97513180	97513363
ENSE00003716130	97507995	97508065
ENSE00003716708	97538168	97538240
ENSE00003719414	97511138	97512052
ENSE00003720276	97515732	97515945
ENSE00003721359	97540201	97540229
ENSE00003722478	97560665	97560737
ENSE00003723309	97543790	97543862
ENSE00003729730	97532311	97532384
ENSE00003732862	97543957	97543985
ENSE00003733176	97492663	97492855
ENSE00003734583	97545833	97545861
ENSE00003737646	97536468	97536496
ENSE00003737687	97541911	97541983
ENSE00003739243	97580462	97580568
ENSE00003742405	97540034	97540106
ENSE00003747124	97545666	97545738
ENSE00003747666	97560832	97560860
ENSE00003748953	97538335	97538363

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 96.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.6447 / max 114.8289, expressed in 1019 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29817	1.4331	659
29818	0.5880	311
202313	0.3287	165
29816	0.2949	159

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	96.70	gold quality
corpus callosum	UBERON:0002336	96.23	gold quality
calcaneal tendon	UBERON:0003701	93.76	gold quality
bone marrow cell	CL:0002092	93.26	gold quality
bone marrow	UBERON:0002371	90.79	gold quality
right uterine tube	UBERON:0001302	87.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.56	gold quality
tibial nerve	UBERON:0001323	85.38	gold quality
adrenal tissue	UBERON:0018303	85.00	gold quality
mucosa of stomach	UBERON:0001199	84.37	gold quality
left ovary	UBERON:0002119	84.08	gold quality
ovary	UBERON:0000992	83.93	gold quality
tonsil	UBERON:0002372	83.73	gold quality
right ovary	UBERON:0002118	83.31	gold quality
endocervix	UBERON:0000458	83.29	gold quality
left testis	UBERON:0004533	83.29	gold quality
testis	UBERON:0000473	83.19	gold quality
thoracic mammary gland	UBERON:0005200	82.86	gold quality
right testis	UBERON:0004534	82.47	gold quality
cerebellar cortex	UBERON:0002129	82.41	gold quality
cerebellar hemisphere	UBERON:0002245	82.37	gold quality
body of uterus	UBERON:0009853	82.36	gold quality
cerebellum	UBERON:0002037	82.24	gold quality
uterine cervix	UBERON:0000002	81.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.77	gold quality
body of pancreas	UBERON:0001150	81.74	gold quality
minor salivary gland	UBERON:0001830	81.64	gold quality
myometrium	UBERON:0001296	81.16	gold quality
saliva-secreting gland	UBERON:0001044	81.10	gold quality
left uterine tube	UBERON:0001303	80.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting ANKRD36B, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-516A-3P	99.46	67.96	1378

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	pain	FBGN0060296

Paralogs (3): ANKRD36 (ENSG00000135976), ANKRD31 (ENSG00000145700), ANKRD36C (ENSG00000174501)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 36B — Q8N2N9 (reviewed: Q8N2N9)

Alternative names: CLL-associated antigen KW-1

All UniProt accessions (3): A0A087WX87, A0A087X1R3, Q8N2N9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ANKRD36 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8N2N9-1	1	yes
Q8N2N9-2	2
Q8N2N9-3	3
Q8N2N9-4	4

RefSeq proteins (2): NP_001380868, NP_079466 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039497	CC144C-like_CC_dom	Domain
IPR050657

Pfam: PF12796, PF14915

UniProt features (35 total): compositionally biased region 8, repeat 6, splice variant 6, sequence conflict 5, coiled-coil region 4, sequence variant 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N2N9-F1	60.42	0.15

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 68 (showing top): PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, AACTTT_UNKNOWN, HOOI_ST7_TARGETS_DN, BASAKI_YBX1_TARGETS_DN, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, TGGAAA_NFAT_Q4_01, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, NUYTTEN_EZH2_TARGETS_DN, BOQUEST_STEM_CELL_CULTURED_VS_FRESH_UP, chr2q11, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A12, ZWANG_DOWN_BY_2ND_EGF_PULSE, MTOR_UP.N4.V1_DN, KRAS.DF.V1_UP

GO Biological Process (0):

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	1
binding	1

Protein interactions and networks

STRING

1721 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD36B	PIGX	Q8TBF5	487
ANKRD36B	KRTAP10-6	P60371	480
ANKRD36B	FAHD2B	Q6P2I3	476
ANKRD36B	FAM178B	Q8IXR5	461
ANKRD36B	MAPDA	Q6DHV7	404
ANKRD36B	GOLGA6L1	Q8N7Z2	402
ANKRD36B	ANKRD39	Q53RE8	397
ANKRD36B	ZNF514	Q96K75	395
ANKRD36B	ZNF835	Q9Y2P0	392
ANKRD36B	OR2T35	Q8NGX2	391
ANKRD36B	ITPRIPL1	Q6GPH6	377
ANKRD36B	VSIG10L	Q86VR7	376
ANKRD36B	RBMY1J	Q15415	372
ANKRD36B	ACTR1B	P42025	372
ANKRD36B	VCF2	Q5XKR9	371
ANKRD36B	WDR38	Q5JTN6	371

IntAct

17 interactions, top by confidence:

A	B	Type	Score
FAM9B	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.560
ANKRD36B	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
rep	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.490
Dctn3		psi-mi:“MI:0914”(association)	0.350
PSMC5	PSMD1	psi-mi:“MI:0914”(association)	0.350
ANKRD36B	CCDC66	psi-mi:“MI:0914”(association)	0.350
ANKRD36B	AHCYL1	psi-mi:“MI:0914”(association)	0.350
TNIK	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.000
FMR1	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.000
TRAF3IP1	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.000
EXOC1	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.000
STXBP1	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.000
yerA	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.000
ANKRD36B		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (62): FAM9B (Two-hybrid), ANKRD36B (Affinity Capture-MS), ANKRD36B (Affinity Capture-MS), ANKRD36B (Affinity Capture-RNA), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid), ANKRD36B (Two-hybrid)

ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0J9YY54, A0A0U1RQI7, A6NJ88, A6QL64, B4DH59, D3ZVV1, E9Q6E9, F1LWT0, O04492, O88799, P0DKJ7, P0DKJ8, P0DKL2, P0DPF3, P18583, P53353, Q08AG5, Q0P6D6, Q2EG98, Q3BBV2, Q4ZJZ1, Q5HY64, Q5JPF3, Q5QGU6, Q5TAG4, Q5TI25, Q5XHX6, Q6P3W6, Q6P902, Q6XPR3, Q6ZQX7, Q86T75, Q86VE3, Q86VQ3, Q8N2N9, Q8N660, Q8N693, Q96EQ9

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A6QL64, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q4R3S3, Q4UJ75, Q5CZ79, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IVF6, Q8IYA2, Q8N2N9, Q8NF67, Q92527, Q96IX9, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q3MJ40, Q5JPF3, Q6NUI1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5258 predictions. Top by Δscore:

Variant	Effect	Δscore
2:97507964:A:AC	donor_gain	1.0000
2:97507965:A:C	donor_gain	1.0000
2:97507993:A:AC	donor_gain	1.0000
2:97507994:C:CC	donor_gain	1.0000
2:97509576:CATA:C	donor_gain	1.0000
2:97509577:ATACT:A	donor_loss	1.0000
2:97509578:TACT:T	donor_loss	1.0000
2:97509579:A:AC	donor_gain	1.0000
2:97509579:A:C	donor_loss	1.0000
2:97509580:C:CA	donor_gain	1.0000
2:97509580:CTTGA:C	donor_gain	1.0000
2:97509592:T:C	donor_gain	1.0000
2:97509607:T:TA	donor_gain	1.0000
2:97509729:GCTAC:G	acceptor_loss	1.0000
2:97509732:ACC:A	acceptor_loss	1.0000
2:97509733:CCTGA:C	acceptor_loss	1.0000
2:97509734:C:CA	acceptor_loss	1.0000
2:97509735:T:A	acceptor_loss	1.0000
2:97511133:CTT:C	donor_loss	1.0000
2:97511134:TTACT:T	donor_loss	1.0000
2:97511135:TACTT:T	donor_loss	1.0000
2:97511136:A:AC	donor_gain	1.0000
2:97511136:ACTT:A	donor_gain	1.0000
2:97511137:C:CT	donor_gain	1.0000
2:97511137:CT:C	donor_gain	1.0000
2:97511137:CTT:C	donor_gain	1.0000
2:97511137:CTTC:C	donor_gain	1.0000
2:97511137:CTTCT:C	donor_gain	1.0000
2:97512051:ACC:A	acceptor_loss	1.0000
2:97512053:C:CC	acceptor_gain	1.0000

AlphaMissense

8956 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:97585117:C:G	A93P	0.997
2:97585377:A:C	C61W	0.996
2:97584981:A:G	L138P	0.995
2:97585379:A:G	C61R	0.995
2:97578990:A:G	L204P	0.994
2:97585018:C:G	A126P	0.994
2:97585294:G:T	P89H	0.994
2:97585048:C:G	D116H	0.993
2:97585080:A:G	L105P	0.993
2:97585378:C:T	C61Y	0.993
2:97578987:A:G	L205P	0.992
2:97578999:A:T	V201D	0.992
2:97585047:T:A	D116V	0.992
2:97589537:T:A	D50V	0.992
2:97579027:C:G	A192P	0.991
2:97580507:A:G	L171S	0.991
2:97585048:C:A	D116Y	0.991
2:97585077:A:G	L106P	0.991
2:97585284:C:A	K92N	0.991
2:97585284:C:G	K92N	0.991
2:97579023:A:T	V193D	0.990
2:97579026:G:T	A192D	0.990
2:97579035:A:G	L189P	0.990
2:97580544:C:G	A159P	0.990
2:97585017:G:T	A126D	0.990
2:97585291:A:G	L90P	0.990
2:97585294:G:C	P89R	0.990
2:97585345:A:G	L72P	0.990
2:97585398:C:A	R54S	0.990
2:97585398:C:G	R54S	0.990

dbSNP variants (sampled 300 via entrez): RS1000019310 (2:97548044 A>G,T), RS1000056008 (2:97567851 G>A), RS1000189310 (2:97586685 C>A), RS1000243691 (2:97498526 A>G), RS1000349619 (2:97590783 G>A,T), RS1000402314 (2:97574258 C>G,T), RS1000439323 (2:97496447 A>G), RS1000636159 (2:97552016 T>C), RS1000760934 (2:97557181 G>A), RS1000803938 (2:97591121 T>A), RS1000835889 (2:97513359 C>T), RS1000999527 (2:97575734 C>A,T), RS1001046177 (2:97563439 C>T), RS1001167927 (2:97546196 C>A), RS1001191852 (2:97590523 T>G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	increases expression	2
Acetaminophen	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
2-butenal	decreases expression	1
arsenite	decreases reaction, affects binding	1
sodium arsenite	decreases expression	1
mercuric bromide	increases expression	1
avobenzone	decreases 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, increases expression	1
pyrachlostrobin	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Vorinostat	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Coal	decreases expression, increases abundance	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Dimethyl Sulfoxide	increases expression	1
Diuron	decreases expression	1
Fluorouracil	affects expression	1

Clinical trials (associated diseases)

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