C18orf54

Summary

C18orf54 (chromosome 18 open reading frame 54, HGNC:13796) is a protein-coding gene on chromosome 18q21.2, encoding Lung adenoma susceptibility protein 2 (Q8IYD9). Might play a role in cell proliferation.

Predicted to act upstream of or within negative regulation of cell population proliferation. Predicted to be located in extracellular region.

Source: NCBI Gene 162681 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total — 2 pathogenic
• MANE Select transcript: NM_001288980

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13796
Approved symbol	C18orf54
Name	chromosome 18 open reading frame 54
Location	18q21.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC33382, LAS2
Ensembl gene	ENSG00000166845
Ensembl biotype	protein_coding
OMIM	613258
Entrez	162681

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000300091, ENST00000382911, ENST00000578138, ENST00000579594, ENST00000582188, ENST00000620105, ENST00000648616, ENST00000893216, ENST00000920422, ENST00000920423, ENST00000920424, ENST00000920425, ENST00000920426

RefSeq mRNA: 5 — MANE Select: NM_001288980 NM_001288980, NM_001288981, NM_001288982, NM_001370309, NM_173529

CCDS: CCDS11956, CCDS74223, CCDS92464

Canonical transcript exons

ENST00000620105 — 9 exons

Exon	Start	End
ENSE00003500041	54374214	54374284
ENSE00003570502	54365719	54365821
ENSE00003654178	54372466	54372597
ENSE00003726653	54378174	54382034
ENSE00003745107	54358774	54358870
ENSE00003748216	54357906	54358075
ENSE00003893320	54361643	54362431
ENSE00003894534	54362771	54362921
ENSE00003895182	54360527	54360855

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 92.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.4792 / max 162.8225, expressed in 1524 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170299	7.4792	1524

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	92.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.12	gold quality
buccal mucosa cell	CL:0002336	85.62	gold quality
ventricular zone	UBERON:0003053	85.30	gold quality
endothelial cell	CL:0000115	82.03	silver quality
ganglionic eminence	UBERON:0004023	81.76	gold quality
testis	UBERON:0000473	80.50	gold quality
right testis	UBERON:0004534	80.30	gold quality
left testis	UBERON:0004533	79.58	gold quality
placenta	UBERON:0001987	78.41	gold quality
epithelial cell of pancreas	CL:0000083	76.98	silver quality
cartilage tissue	UBERON:0002418	76.21	gold quality
calcaneal tendon	UBERON:0003701	75.87	gold quality
trabecular bone tissue	UBERON:0002483	74.53	gold quality
secondary oocyte	CL:0000655	73.52	gold quality
corpus callosum	UBERON:0002336	73.16	gold quality
tibia	UBERON:0000979	72.87	gold quality
cortical plate	UBERON:0005343	72.48	gold quality
thymus	UBERON:0002370	72.37	gold quality
stromal cell of endometrium	CL:0002255	72.27	gold quality
germinal epithelium of ovary	UBERON:0001304	70.70	gold quality
visceral pleura	UBERON:0002401	70.33	gold quality
parietal pleura	UBERON:0002400	69.87	gold quality
smooth muscle tissue	UBERON:0001135	69.80	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	69.74	gold quality
ileal mucosa	UBERON:0000331	69.44	gold quality
endometrium	UBERON:0001295	69.38	gold quality
vermiform appendix	UBERON:0001154	69.06	gold quality
lymph node	UBERON:0000029	68.87	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

165 targeting C18orf54, 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-3646	100.00	73.56	5283
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
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-302E	99.96	70.74	2669
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:152948	ENSDARG00000071487
mus_musculus	4930503L19Rik	ENSMUSG00000044906
rattus_norvegicus	C18h18orf54	ENSRNOG00000028677

Protein

Protein identifiers

Lung adenoma susceptibility protein 2 — Q8IYD9 (reviewed: Q8IYD9)

All UniProt accessions (5): Q8IYD9, I7GY12, I7HAS0, J3KRX3, J3KS56

UniProt curated annotations — full annotation on UniProt →

Function. Might play a role in cell proliferation.

Subcellular location. Secreted.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IYD9-1	1	yes
Q8IYD9-2	2

RefSeq proteins (5): NP_001275909, NP_001275910, NP_001275911, NP_001357238, NP_775800 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031587	LAS2	Family
IPR052679	Cell_Prolif_Regulator	Family

Pfam: PF15792

UniProt features (10 total): sequence variant 2, sequence conflict 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYD9-F1	60.01	0.11

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): 161

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 96 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, LIAO_METASTASIS, TGACATY_UNKNOWN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, CUI_TCF21_TARGETS_2_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, SANSOM_APC_TARGETS, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, NUYTTEN_NIPP1_TARGETS_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_UP, YOSHIMURA_MAPK8_TARGETS_DN

GO Biological Process (1): negative regulation of cell population proliferation (GO:0008285)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

33 interactions, top by confidence:

A	B	Type	Score
MAGEA11	LAS2	psi-mi:“MI:0915”(physical association)	0.670
ANKRD11	LAS2	psi-mi:“MI:0915”(physical association)	0.560
TXLNB	LAS2	psi-mi:“MI:0915”(physical association)	0.560
LAS2	CNTLN	psi-mi:“MI:0915”(physical association)	0.560
LAS2	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
LAS2	ANKRD11	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	LAS2	psi-mi:“MI:0915”(physical association)	0.560
LAS2	MAGOHB	psi-mi:“MI:0915”(physical association)	0.560
LAS2	TXLNB	psi-mi:“MI:0915”(physical association)	0.560
LAS2	GLE1	psi-mi:“MI:0915”(physical association)	0.560
LAS2	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
PARP2	LAS2	psi-mi:“MI:0557”(adp ribosylation reaction)	0.440
LAS2	CLTC	psi-mi:“MI:0915”(physical association)	0.400
LAS2	CNTLN	psi-mi:“MI:0915”(physical association)	0.400
LAS2	KDM1A	psi-mi:“MI:0915”(physical association)	0.370
LAS2	MAGEA11	psi-mi:“MI:0915”(physical association)	0.000
LAS2	CNTLN	psi-mi:“MI:0915”(physical association)	0.000
ENKD1	LAS2	psi-mi:“MI:0915”(physical association)	0.000
HSF2BP	LAS2	psi-mi:“MI:0915”(physical association)	0.000
MAGOHB	LAS2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): C18orf54 (Two-hybrid), C18orf54 (Two-hybrid), C18orf54 (Positive Genetic), C18orf54 (Two-hybrid), C18orf54 (Two-hybrid), C18orf54 (Two-hybrid), C18orf54 (Two-hybrid), C18orf54 (Two-hybrid), ANKRD11 (Two-hybrid), MAGEA11 (Two-hybrid), C18orf54 (Proximity Label-MS), CNTLN (Affinity Capture-MS), C18orf54 (Affinity Capture-RNA), C18orf54 (Affinity Capture-RNA), KDM1A (Two-hybrid)

ESM2 similar proteins: A0A1B0GVS7, A2CE83, A2VDU1, A5D992, A8KBE0, O43597, O43609, O43610, P28290, Q02223, Q08AD1, Q08E39, Q14CH0, Q1L0X2, Q2PFN5, Q2TBG9, Q3UUD2, Q4R815, Q5R959, Q5RGQ8, Q5TB30, Q66H35, Q6AYK4, Q6DD45, Q6GPM0, Q6NRB7, Q6P995, Q6PEM6, Q6ZUJ8, Q7ZX27, Q866R9, Q86VY9, Q8BGN6, Q8C3K5, Q8C817, Q8IYD9, Q8N957, Q96HH4, Q9BZD6, Q9C004

Diamond homologs: Q4R815, Q66H35, Q8CB14, Q8IYD9

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	2
Likely pathogenic	0
Uncertain significance	3
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
57286	GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1	Pathogenic
59964	GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1	Pathogenic

SpliceAI

1634 predictions. Top by Δscore:

Variant	Effect	Δscore
18:54360522:TACAG:T	acceptor_gain	1.0000
18:54360525:A:AG	acceptor_gain	1.0000
18:54360526:G:GG	acceptor_gain	1.0000
18:54360526:GTT:G	acceptor_gain	1.0000
18:54361638:TTCA:T	acceptor_loss	1.0000
18:54361639:TCA:T	acceptor_loss	1.0000
18:54361640:CAGCT:C	acceptor_loss	1.0000
18:54361641:A:AG	acceptor_gain	1.0000
18:54361641:A:G	acceptor_loss	1.0000
18:54361642:G:GA	acceptor_gain	1.0000
18:54361874:GACCC:G	donor_gain	1.0000
18:54361897:GA:G	donor_gain	1.0000
18:54362922:GTAA:G	donor_gain	1.0000
18:54362926:G:GG	donor_gain	1.0000
18:54372458:A:AG	acceptor_gain	1.0000
18:54372459:A:AG	acceptor_gain	1.0000
18:54372464:A:AG	acceptor_gain	1.0000
18:54372465:G:GA	acceptor_gain	1.0000
18:54372465:GA:G	acceptor_gain	1.0000
18:54372465:GAGCT:G	acceptor_gain	1.0000
18:54372593:AACAA:A	donor_gain	1.0000
18:54372594:ACAA:A	donor_gain	1.0000
18:54372595:CAA:C	donor_gain	1.0000
18:54372596:AA:A	donor_gain	1.0000
18:54372596:AAG:A	donor_loss	1.0000
18:54372597:AGTAA:A	donor_loss	1.0000
18:54372598:G:GG	donor_gain	1.0000
18:54372598:GTA:G	donor_loss	1.0000
18:54372599:T:G	donor_loss	1.0000
18:54374212:A:T	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000008844 (18:54381572 A>G), RS1000032266 (18:54367090 T>C), RS1000124155 (18:54380152 T>C), RS1000160433 (18:54357184 A>G), RS1000249113 (18:54381933 C>G), RS1000276320 (18:54363693 C>T), RS1000312287 (18:54368901 A>G), RS1000420860 (18:54362844 C>G,T), RS1000439586 (18:54375299 C>A,T), RS1000471817 (18:54362458 T>C), RS1000487409 (18:54357999 G>A), RS1000521494 (18:54374998 A>C), RS1000602908 (18:54358252 G>C), RS1000728798 (18:54357438 C>T), RS1000875542 (18:54375622 G>T)

Disease associations

OMIM: gene MIM:613258 | 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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
Valproic Acid	decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
M-VAC protocol	increases response to substance	1
2-palmitoylglycerol	increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
incobotulinumtoxinA	decreases expression	1
Dasatinib	decreases expression	1
Temozolomide	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Benzo(a)pyrene	increases expression	1
Calcitriol	affects cotreatment, decreases expression	1
Cannabidiol	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Polychlorinated Biphenyls	affects expression	1
Quercetin	increases expression	1
Silicon Dioxide	increases expression	1
Testosterone	affects cotreatment, decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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