ANKRD18B

Summary

ANKRD18B (ankyrin repeat domain 18B, HGNC:23644) is a protein-coding gene on chromosome 9p13.3, encoding Ankyrin repeat domain-containing protein 18B (A2A2Z9).

At a glance

• Clinical variants (ClinVar): 12 total — 3 pathogenic
• MANE Select transcript: NM_001393611

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23644
Approved symbol	ANKRD18B
Name	ankyrin repeat domain 18B
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	bA255A11.3
Ensembl gene	ENSG00000230453
Ensembl biotype	protein_coding
OMIM	618930
Entrez	441459

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000290943, ENST00000357927, ENST00000465094, ENST00000474881, ENST00000605687, ENST00000684830, ENST00000703167, ENST00000703206

RefSeq mRNA: 2 — MANE Select: NM_001393611 NM_001353432, NM_001393611

CCDS: CCDS94397

Canonical transcript exons

ENST00000684830 — 19 exons

Exon	Start	End
ENSE00001596423	33550430	33550579
ENSE00001625752	33568671	33568893
ENSE00001677252	33555708	33555820
ENSE00001696420	33533439	33533545
ENSE00001718028	33547938	33548855
ENSE00001739033	33567103	33567314
ENSE00001742772	33558058	33558187
ENSE00001768224	33528727	33528841
ENSE00001792002	33566219	33566500
ENSE00001805586	33529000	33529173
ENSE00001849996	33539449	33539502
ENSE00001916152	33540078	33540212
ENSE00003373340	33543185	33543255
ENSE00003469560	33541147	33541227
ENSE00003535528	33534370	33534507
ENSE00003545252	33536878	33536945
ENSE00003922535	33572316	33573013
ENSE00003929265	33571246	33571291
ENSE00003930540	33524251	33524695

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 83.44.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3608 / max 54.2742, expressed in 143 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96454	0.3608	143

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.16	gold quality
cerebellar cortex	UBERON:0002129	79.13	gold quality
cerebellar hemisphere	UBERON:0002245	79.02	gold quality
cerebellum	UBERON:0002037	77.15	gold quality
right testis	UBERON:0004534	77.11	gold quality
left testis	UBERON:0004533	77.04	gold quality
lower esophagus mucosa	UBERON:0035834	76.63	gold quality
right hemisphere of cerebellum	UBERON:0014890	76.49	gold quality
testis	UBERON:0000473	74.95	gold quality
calcaneal tendon	UBERON:0003701	73.74	gold quality
tendon	UBERON:0000043	72.30	gold quality
tendon of biceps brachii	UBERON:0008188	70.80	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	70.77	gold quality
buccal mucosa cell	CL:0002336	70.71	silver quality
anterior cingulate cortex	UBERON:0009835	70.42	gold quality
esophagus mucosa	UBERON:0002469	69.77	gold quality
medial globus pallidus	UBERON:0002477	69.35	silver quality
sperm	CL:0000019	68.56	silver quality
Brodmann (1909) area 9	UBERON:0013540	68.16	gold quality
amygdala	UBERON:0001876	67.84	gold quality
skin of abdomen	UBERON:0001416	67.47	gold quality
right frontal lobe	UBERON:0002810	67.15	gold quality
skin of leg	UBERON:0001511	67.04	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	66.80	gold quality
primary visual cortex	UBERON:0002436	65.28	gold quality
corpus callosum	UBERON:0002336	64.92	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	64.77	gold quality
zone of skin	UBERON:0000014	64.37	gold quality
bone marrow cell	CL:0002092	63.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ENAD-20	yes	32.58
E-ANND-3	yes	9.94

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• ANKRD18B mRNA expression was significantly decreased or silenced in lung cancer tissues and cell lines associated with hypermethylation of the ANKRD18B region. (PMID:24249358)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-272n13.3	ENSDARG00000099768
drosophila_melanogaster	CG8679	FBGN0032934
drosophila_melanogaster	CG42391	FBGN0259737
caenorhabditis_elegans	lem-3	WBGENE00002276
caenorhabditis_elegans		WBGENE00019483
caenorhabditis_elegans		WBGENE00206377

Paralogs (7): ANKRD26 (ENSG00000107890), ANKRD30A (ENSG00000148513), ANKRD30BL (ENSG00000163046), ANKRD18A (ENSG00000180071), ANKRD30B (ENSG00000180777), ANKRD62 (ENSG00000181626), ANKRD20A1 (ENSG00000260691)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 18B — A2A2Z9 (reviewed: A2A2Z9)

All UniProt accessions (7): A2A2Z9, A0A8I5KZ96, A0A8V8TQ86, A0A8V8TRI7, A2A300, R4GNB3, S4R3H1

RefSeq proteins (2): NP_001340361, NP_001380540* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR021885	DUF3496	Domain
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039497	CC144C-like_CC_dom	Domain
IPR050657

Pfam: PF00023, PF12001, PF12796, PF14915

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A2A2Z9-F1	71.91	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): BENPORATH_ES_WITH_H3K27ME3, BILD_E2F3_ONCOGENIC_SIGNATURE, chr9p13, CHAF1B_TARGET_GENES, CSHL1_TARGET_GENES, HAND1_TARGET_GENES, LMTK3_TARGET_GENES, UBN1_TARGET_GENES, ZBTB18_TARGET_GENES, ZNF2_TARGET_GENES, ZNF391_TARGET_GENES, ZNF423_TARGET_GENES, ZNF436_TARGET_GENES, ZNF664_TARGET_GENES, ZNF7_TARGET_GENES

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

602 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD18B	THAP8	Q8NA92	570
ANKRD18B	FSAF1	Q8NDD1	541
ANKRD18B	CCDC198	Q9NVL8	478
ANKRD18B	PRSS3	P15951	467
ANKRD18B	RLF	Q13129	445
ANKRD18B	FAM72B	Q86X60	399
ANKRD18B	FRMPD1	Q5SYB0	391
ANKRD18B	CCDC7	Q96M83	379
ANKRD18B	ANKRD9	Q96BM1	368
ANKRD18B	FAM8A1	Q9UBU6	349
ANKRD18B	SLF1	Q9BQI6	344
ANKRD18B	SREK1	Q8WXA9	317
ANKRD18B	MPHOSPH10	O00566	306
ANKRD18B	ZNF326	Q5BKZ1	305
ANKRD18B	CWC27	Q6UX04	305

IntAct

2 interactions, top by confidence:

A	B	Type	Score
PB2	ANKRD18B	psi-mi:“MI:0915”(physical association)	0.370

ESM2 similar proteins: A0A0A6YYL3, A0JP26, A2A2Z9, A2RUR9, A6NC57, A6NI47, A6QR20, A8MYB1, A9JSR5, A9ZSY0, B2RU33, B7ZQJ9, F1M5M3, H3BUK9, O15050, P51954, P98182, Q19UN5, Q4UJ75, Q501X2, Q5CZ79, Q5DW34, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6NSI1, Q6S545, Q6S5H5, Q6S8J7, Q71S21, Q7TPV2, Q7TSC3, Q7ZT11, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8IYA2

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q3MJ40, Q4R3S3, Q4UJ75, Q5CZ79, Q5JPF3, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IYA2, Q92527, Q9BXX2, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q8IVF6, A6QL64, Q8N2N9, Q8NF67, Q96IX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	Pathogenic
3245076	NC_000009.11:g.(?33436037)(37436779_?)del	Pathogenic
443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	Pathogenic

SpliceAI

2437 predictions. Top by Δscore:

Variant	Effect	Δscore
9:33533433:TTACA:T	acceptor_loss	1.0000
9:33533434:TACA:T	acceptor_loss	1.0000
9:33533437:A:AG	acceptor_gain	1.0000
9:33533438:G:A	acceptor_loss	1.0000
9:33533438:G:GG	acceptor_gain	1.0000
9:33533438:GGA:G	acceptor_gain	1.0000
9:33533542:AAAGG:A	donor_loss	1.0000
9:33533543:AAGGT:A	donor_loss	1.0000
9:33534368:A:AG	acceptor_gain	1.0000
9:33534369:G:GG	acceptor_gain	1.0000
9:33534369:GAACA:G	acceptor_gain	1.0000
9:33534504:GAAG:G	donor_gain	1.0000
9:33534506:AGG:A	donor_loss	1.0000
9:33534507:GGTA:G	donor_loss	1.0000
9:33534508:G:A	donor_loss	1.0000
9:33534509:T:A	donor_loss	1.0000
9:33536875:T:G	acceptor_gain	1.0000
9:33536876:A:AG	acceptor_gain	1.0000
9:33536877:G:GG	acceptor_gain	1.0000
9:33536877:GC:G	acceptor_gain	1.0000
9:33547933:TTTA:T	acceptor_loss	1.0000
9:33547934:TTAGG:T	acceptor_loss	1.0000
9:33547936:A:T	acceptor_loss	1.0000
9:33547936:AG:A	acceptor_gain	1.0000
9:33547937:GG:G	acceptor_gain	1.0000
9:33548853:GAA:G	donor_gain	1.0000
9:33548856:G:GG	donor_gain	1.0000
9:33550580:G:GG	donor_gain	1.0000
9:33555705:A:AG	acceptor_gain	1.0000
9:33555705:AAG:A	acceptor_loss	1.0000

AlphaMissense

7472 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:33529069:G:C	D131H	0.961
9:33529000:G:C	A108P	0.954
9:33534386:G:C	A207P	0.950
9:33533532:G:C	D197H	0.947
9:33529071:T:A	D131E	0.945
9:33529071:T:G	D131E	0.945
9:33529099:G:C	A141P	0.939
9:33534387:C:A	A207E	0.936
9:33528746:T:C	C76R	0.935
9:33533533:A:T	D197V	0.935
9:33529070:A:T	D131V	0.928
9:33533534:C:A	D197E	0.927
9:33533534:C:G	D197E	0.927
9:33534370:A:C	R201S	0.927
9:33534370:A:T	R201S	0.927
9:33528748:T:G	C76W	0.925
9:33534455:G:C	D230H	0.925
9:33529136:T:C	L153P	0.924
9:33529070:A:C	D131A	0.919
9:33533500:T:C	L186S	0.912
9:33533452:C:G	P170R	0.907
9:33533533:A:C	D197A	0.907
9:33534474:C:A	A236D	0.906
9:33534457:C:A	D230E	0.905
9:33534457:C:G	D230E	0.905
9:33524614:C:A	A42D	0.904
9:33533463:G:C	A174P	0.901
9:33528813:A:T	D98V	0.899
9:33528744:C:A	A75D	0.895
9:33528834:T:C	L105S	0.894

dbSNP variants (sampled 300 via entrez): RS1000030004 (9:33563190 C>A), RS1000080755 (9:33527458 A>G), RS1000081834 (9:33562914 G>A), RS1000231664 (9:33557431 A>G), RS1000332506 (9:33550878 A>G), RS1000448973 (9:33550486 G>T), RS1000582218 (9:33557100 A>G), RS1000659484 (9:33544862 G>C,T), RS1000773295 (9:33538059 G>A,T), RS1000864434 (9:33525658 T>C), RS1000932054 (9:33531727 T>C), RS1001008909 (9:33544523 T>C), RS1001034420 (9:33561748 T>A,C), RS1001075631 (9:33567885 G>T), RS1001082789 (9:33526051 A>G)

Disease associations

OMIM: gene MIM:618930 | 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

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
trichostatin A	affects expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Cisplatin	decreases expression	1
Copper	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Estradiol	increases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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