ANKRD18A

Summary

ANKRD18A (ankyrin repeat domain 18A, HGNC:23643) is a protein-coding gene on chromosome 9p13.1, encoding Ankyrin repeat domain-containing protein 18A (Q8IVF6).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 155 total
• MANE Select transcript: NM_147195

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23643
Approved symbol	ANKRD18A
Name	ankyrin repeat domain 18A
Location	9p13.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA2015, FLJ35740
Ensembl gene	ENSG00000180071
Ensembl biotype	protein_coding
OMIM	620259
Entrez	253650

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 nonsense_mediated_decay, 3 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000399703, ENST00000562942, ENST00000602295, ENST00000625242, ENST00000636756, ENST00000637288, ENST00000637322, ENST00000637556, ENST00000703204, ENST00000703205

RefSeq mRNA: 2 — MANE Select: NM_147195 NM_001331100, NM_147195

CCDS: CCDS55311, CCDS94409

Canonical transcript exons

ENST00000399703 — 16 exons

Exon	Start	End
ENSE00001656301	38607426	38607493
ENSE00001667847	38601131	38601204
ENSE00001700461	38571364	38572059
ENSE00001754191	38615930	38616044
ENSE00001765969	38615594	38615767
ENSE00001768717	38611215	38611321
ENSE00001836502	38620080	38620596
ENSE00003539243	38603159	38603212
ENSE00003796160	38575476	38575698
ENSE00003988347	38588551	38588663
ENSE00003988348	38593760	38593909
ENSE00003988351	38595486	38596403
ENSE00003988354	38610273	38610410
ENSE00003988357	38586183	38586312
ENSE00003988358	38577867	38578148
ENSE00003988359	38577053	38577264

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.96.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9845 / max 54.2742, expressed in 438 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100775	0.9845	438

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	95.96	gold quality
cerebellar vermis	UBERON:0004720	89.57	silver quality
bone marrow	UBERON:0002371	85.70	gold quality
left testis	UBERON:0004533	84.14	gold quality
testis	UBERON:0000473	83.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.83	gold quality
right testis	UBERON:0004534	81.48	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.18	gold quality
spinal cord	UBERON:0002240	81.15	gold quality
bone marrow cell	CL:0002092	79.90	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.93	gold quality
lower esophagus mucosa	UBERON:0035834	77.95	gold quality
sural nerve	UBERON:0015488	75.02	gold quality
body of pancreas	UBERON:0001150	74.24	gold quality
thyroid gland	UBERON:0002046	74.11	gold quality
left lobe of thyroid gland	UBERON:0001120	73.59	gold quality
right uterine tube	UBERON:0001302	73.44	gold quality
substantia nigra	UBERON:0002038	72.63	gold quality
primary visual cortex	UBERON:0002436	72.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.62	gold quality
right lobe of thyroid gland	UBERON:0001119	71.33	gold quality
pancreas	UBERON:0001264	70.66	gold quality
quadriceps femoris	UBERON:0001377	69.42	gold quality
endometrium	UBERON:0001295	68.40	gold quality
Ammon’s horn	UBERON:0001954	68.28	gold quality
skin of abdomen	UBERON:0001416	67.79	gold quality
nucleus accumbens	UBERON:0001882	67.53	gold quality
pituitary gland	UBERON:0000007	67.01	gold quality
mucosa of transverse colon	UBERON:0004991	66.68	gold quality
hypothalamus	UBERON:0001898	66.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.64

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• These results suggest that ANKRD18A hypermethylation and consequent mRNA alterations might be a vital molecular mechanism in lung cancer. (PMID:23131552)

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), ANKRD30B (ENSG00000180777), ANKRD62 (ENSG00000181626), ANKRD18B (ENSG00000230453), ANKRD20A1 (ENSG00000260691)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 18A — Q8IVF6 (reviewed: Q8IVF6)

All UniProt accessions (7): Q8IVF6, A0A1B0GTM6, A0A1B0GTQ5, A0A1B0GW59, A0A8V8TQR3, A0A8V8TR93, R4GN29

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IVF6-1	1	yes
Q8IVF6-2	2

RefSeq proteins (2): NP_001318029, NP_671728* (*=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 (25 total): sequence variant 7, repeat 5, coiled-coil region 4, sequence conflict 4, splice variant 2, chain 1, compositionally biased region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVF6-F1	71.28	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 48 (showing top): BENPORATH_ES_WITH_H3K27ME3, PEREZ_TP63_TARGETS, BILD_E2F3_ONCOGENIC_SIGNATURE, chr9p13, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, WHITFIELD_CELL_CYCLE_S, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, E2F3_UP.V1_UP, ARNT2_TARGET_GENES, CHAF1B_TARGET_GENES, CREB3L4_TARGET_GENES, NFE2L1_TARGET_GENES, ZBTB12_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

738 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD18A	FAM240B	A0A1B0GVZ2	571
ANKRD18A	NOP9	Q86U38	474
ANKRD18A	ZNF486	Q96H40	371
ANKRD18A	FRY	Q5TBA9	370
ANKRD18A	ANKRD34A	Q69YU3	368
ANKRD18A	INSYN2A	Q6ZSG2	366
ANKRD18A	RMDN2	Q96LZ7	365
ANKRD18A	ZNF559	Q9BR84	349
ANKRD18A	ZNF541	Q9H0D2	348
ANKRD18A	TMEM132E	Q6IEE7	327
ANKRD18A	FRMPD1	Q5SYB0	322
ANKRD18A	TMED6	Q8WW62	316
ANKRD18A	ZNF280D	Q6N043	314
ANKRD18A	GAREM1	Q9H706	313
ANKRD18A	ZNF90	Q03938	312

IntAct

6 interactions, top by confidence:

A	B	Type	Score
YWHAZ	HSPB1	psi-mi:“MI:0914”(association)	0.680
YWHAZ	LMNA	psi-mi:“MI:0914”(association)	0.560
ANKRD18A	FAU	psi-mi:“MI:0915”(physical association)	0.400
ANKRD18A	H3-4	psi-mi:“MI:0915”(physical association)	0.400
ANKRD18A	NEMF	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): TTC33 (Affinity Capture-MS), NEMF (Affinity Capture-MS), ANKRD18A (Affinity Capture-MS), ANKRD18A (Proximity Label-MS), ANKRD18A (Proximity Label-MS), ANKRD18A (Affinity Capture-MS), HSPD1 (Cross-Linking-MS (XL-MS)), ANKRD18A (Cross-Linking-MS (XL-MS)), HDAC1 (Cross-Linking-MS (XL-MS)), RPS3 (Cross-Linking-MS (XL-MS)), ANKRD18A (Affinity Capture-MS)

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	107
Likely benign	25
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

2588 predictions. Top by Δscore:

Variant	Effect	Δscore
9:38573083:CTTTT:C	donor_gain	1.0000
9:38575472:TAAC:T	donor_loss	1.0000
9:38575474:A:AC	donor_gain	1.0000
9:38575474:A:AG	donor_loss	1.0000
9:38575475:C:CC	donor_gain	1.0000
9:38575475:C:T	donor_loss	1.0000
9:38575475:CCT:C	donor_gain	1.0000
9:38575694:CCGAT:C	acceptor_gain	1.0000
9:38575695:CGAT:C	acceptor_gain	1.0000
9:38575695:CGATC:C	acceptor_gain	1.0000
9:38575696:GAT:G	acceptor_gain	1.0000
9:38575697:AT:A	acceptor_gain	1.0000
9:38575698:TC:T	acceptor_loss	1.0000
9:38575699:C:CC	acceptor_gain	1.0000
9:38575700:T:G	acceptor_loss	1.0000
9:38575701:G:C	acceptor_gain	1.0000
9:38575701:G:GC	acceptor_gain	1.0000
9:38577047:ACTT:A	donor_loss	1.0000
9:38577048:CTT:C	donor_loss	1.0000
9:38577049:TTACT:T	donor_loss	1.0000
9:38577050:TA:T	donor_loss	1.0000
9:38577051:A:AC	donor_gain	1.0000
9:38577051:ACTT:A	donor_gain	1.0000
9:38577052:C:CA	donor_gain	1.0000
9:38577052:CT:C	donor_gain	1.0000
9:38577052:CTT:C	donor_gain	1.0000
9:38577052:CTTC:C	donor_gain	1.0000
9:38577052:CTTCA:C	donor_gain	1.0000
9:38577054:T:TA	donor_gain	1.0000
9:38577083:G:C	donor_gain	1.0000

AlphaMissense

6635 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:38615698:C:G	D131H	0.982
9:38615767:C:G	A108P	0.980
9:38615696:A:C	D131E	0.970
9:38615696:A:T	D131E	0.970
9:38615697:T:A	D131V	0.964
9:38616023:A:C	C76W	0.964
9:38616025:A:G	C76R	0.963
9:38615668:C:G	A141P	0.962
9:38615679:G:T	A137D	0.959
9:38611228:C:G	D197H	0.958
9:38615697:T:G	D131A	0.957
9:38611260:A:G	L186S	0.955
9:38615937:A:G	L105S	0.955
9:38610394:C:G	A207P	0.954
9:38615631:A:G	L153P	0.954
9:38616024:C:T	C76Y	0.952
9:38615958:T:A	D98V	0.951
9:38611227:T:A	D197V	0.950
9:38610393:G:T	A207E	0.949
9:38615676:A:T	L138H	0.944
9:38611308:G:C	P170R	0.943
9:38611226:G:C	D197E	0.938
9:38611226:G:T	D197E	0.938
9:38615698:C:A	D131Y	0.937
9:38615957:G:C	D98E	0.936
9:38615957:G:T	D98E	0.936
9:38615958:T:G	D98A	0.936
9:38610410:T:A	R201S	0.935
9:38610410:T:G	R201S	0.935
9:38616044:C:A	R69S	0.934

dbSNP variants (sampled 300 via entrez): RS1000011424 (9:38583903 C>G), RS1000073092 (9:38577467 T>C), RS1000078186 (9:38585303 T>C), RS1000195640 (9:38608148 ATAT>A), RS1000224278 (9:38601281 C>T), RS1000256809 (9:38601720 G>A), RS1000284384 (9:38599332 C>A), RS1000810296 (9:38595467 T>C), RS1000857193 (9:38617613 C>T), RS1000869812 (9:38612214 G>C), RS1001093483 (9:38567377 G>A), RS1001100258 (9:38606341 C>T), RS1001339609 (9:38589201 T>C), RS1001431459 (9:38622352 T>C), RS1001445150 (9:38572431 C>A)

Disease associations

OMIM: gene MIM:620259 | 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
GCST002682_8	Tourette’s syndrome or obsessive-compulsive disorder	7.000000e-06
GCST007637_13	Diffusing capacity of carbon monoxide	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009369	diffusing capacity of the lung for carbon monoxide

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	4
trichostatin A	affects expression, increases expression	3
Benzo(a)pyrene	increases expression	2
fluorene-9-bisphenol	decreases expression	1
bisphenol A	increases expression	1
perfluorooctane sulfonic acid	decreases 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, decreases expression, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Folic Acid	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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