C19orf18

Summary

C19orf18 (chromosome 19 open reading frame 18, HGNC:28642) is a protein-coding gene on chromosome 19q13.43, encoding Uncharacterized protein C19orf18 (Q8NEA5).

Located in extracellular exosome.

Source: NCBI Gene 147685 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_152474

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28642
Approved symbol	C19orf18
Name	chromosome 19 open reading frame 18
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	MGC41906
Ensembl gene	ENSG00000177025
Ensembl biotype	protein_coding
Entrez	147685

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000314391

RefSeq mRNA: 1 — MANE Select: NM_152474 NM_152474

CCDS: CCDS12967

Canonical transcript exons

ENST00000314391 — 6 exons

Exon	Start	End
ENSE00001252549	57958437	57958717
ENSE00001252551	57961391	57961551
ENSE00001252558	57966530	57966632
ENSE00001252563	57972463	57972504
ENSE00001252570	57974099	57974203
ENSE00001252575	57974312	57974534

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 89.95.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0106 / max 7.6684, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182924	0.0106	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.95	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.63	gold quality
sperm	CL:0000019	86.79	gold quality
apex of heart	UBERON:0002098	83.04	gold quality
tendon of biceps brachii	UBERON:0008188	82.26	silver quality
left testis	UBERON:0004533	81.70	gold quality
right testis	UBERON:0004534	81.45	gold quality
oviduct epithelium	UBERON:0004804	80.70	gold quality
testis	UBERON:0000473	79.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	77.11	silver quality
heart left ventricle	UBERON:0002084	76.20	gold quality
cardiac ventricle	UBERON:0002082	75.87	gold quality
right atrium auricular region	UBERON:0006631	75.20	gold quality
adenohypophysis	UBERON:0002196	75.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	75.03	gold quality
cardiac atrium	UBERON:0002081	74.71	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.11	gold quality
right uterine tube	UBERON:0001302	73.72	gold quality
heart	UBERON:0000948	73.66	gold quality
pituitary gland	UBERON:0000007	73.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	73.59	gold quality
pancreatic ductal cell	CL:0002079	73.53	silver quality
spinal cord	UBERON:0002240	73.06	gold quality
medial globus pallidus	UBERON:0002477	73.03	gold quality
epithelial cell of pancreas	CL:0000083	73.00	gold quality
gastrocnemius	UBERON:0001388	72.94	gold quality
tendon	UBERON:0000043	72.72	gold quality
muscle of leg	UBERON:0001383	72.68	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.58	gold quality
lower esophagus	UBERON:0013473	72.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting C19orf18, 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-6506-5P	99.04	65.66	1386
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-4799-3P	97.78	65.97	893
HSA-MIR-3909	97.55	66.78	887
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-4720-5P	97.46	65.67	893
HSA-MIR-5588-5P	97.46	65.70	913
HSA-MIR-3192-5P	96.98	65.76	1926

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	2900092C05Rik	ENSMUSG00000030385
rattus_norvegicus	C1h19orf18	ENSRNOG00000019280

Protein

Protein identifiers

Uncharacterized protein C19orf18 — Q8NEA5 (reviewed: Q8NEA5)

All UniProt accessions (1): Q8NEA5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_689687* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037549	C19orf18	Family

Pfam: PF17686

UniProt features (8 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEA5-F1	62.03	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): TGACCTY_ERR1_Q2, YKACATTT_UNKNOWN, HMGIY_Q6, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_D, MIR619_5P, MIR6506_5P, GSE13306_RA_VS_UNTREATED_TREG_DN, BLANCO_MELO_MERS_COV_INFECTION_MCR5_CELLS_UP, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_0.5H_ACT_CD4_TCELL_DN, GSE26495_NAIVE_VS_PD1HIGH_CD8_TCELL_UP, GSE27786_ERYTHROBLAST_VS_MONO_MAC_UP, chr19q13, GSE1925_CTRL_VS_24H_IFNG_STIM_MACROPHAGE_DN, GSE4142_PLASMA_CELL_VS_MEMORY_BCELL_UP, GSE17186_MEMORY_VS_CD21HIGH_TRANSITIONAL_BCELL_UP

GO Biological Process (0):

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

GO Cellular Component (2): membrane (GO:0016020), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

96 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C19orf18	FAM177A1	Q8N128	447
C19orf18	C8orf34	Q49A92	447
C19orf18	MFSD6	Q6ZSS7	417
C19orf18	TMEM258	P61165	369
C19orf18	DUSP13B	Q9UII6	367
C19orf18	IER3IP1	Q9Y5U9	348
C19orf18	DIP2C	Q9Y2E4	348
C19orf18	EVPLL	A8MZ36	348
C19orf18	MMAB	Q96EY8	348
C19orf18	ARL6IP1	Q15041	328
C19orf18	TADA2A	O75478	324
C19orf18	TSPAN32	Q96QS1	323
C19orf18	BNIP5	P0C671	323
C19orf18	GALNT18	Q6P9A2	322
C19orf18	C11orf87	Q6NUJ2	320

IntAct

13 interactions, top by confidence:

A	B	Type	Score
ARL6IP1	C19orf18	psi-mi:“MI:0915”(physical association)	0.560
MFSD6	C19orf18	psi-mi:“MI:0915”(physical association)	0.560
C19orf18	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
	C19orf18	psi-mi:“MI:0915”(physical association)	0.490
C19orf18	STX6	psi-mi:“MI:0914”(association)	0.350
MFSD6	C19orf18	psi-mi:“MI:0915”(physical association)	0.000
IER3IP1	C19orf18	psi-mi:“MI:0915”(physical association)	0.000
ARL6IP1	C19orf18	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): C19orf18 (Two-hybrid), C19orf18 (Two-hybrid), C19orf18 (Two-hybrid), MFAP3 (Affinity Capture-MS), NDFIP1 (Affinity Capture-MS), STX6 (Affinity Capture-MS), CD320 (Affinity Capture-MS), BMPR1A (Affinity Capture-MS), STX10 (Affinity Capture-MS), FGFR2 (Affinity Capture-MS), C19orf18 (Two-hybrid), HSP90AB1 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)

ESM2 similar proteins: A0A1B0GVT2, A0JNM1, A2APA5, A6H754, A6NLX4, A6PWV3, A7MB05, A8MZ97, O88472, P02725, P06740, P14221, P19103, Q02223, Q0VFL4, Q13522, Q1RMT9, Q28CW2, Q28HY7, Q2KIK3, Q2TBN9, Q498C7, Q56A20, Q5RA87, Q5RBQ2, Q5RCS3, Q5XIC3, Q60664, Q63HN8, Q6DJE5, Q6UWV7, Q6XQ84, Q7L3B6, Q7SXB3, Q7TMJ8, Q80WK2, Q810S2, Q86UW2, Q8NEA5, Q8WMS3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

911 predictions. Top by Δscore:

Variant	Effect	Δscore
19:57961549:CGA:C	acceptor_gain	1.0000
19:57961552:C:CC	acceptor_gain	1.0000
19:57966528:A:AC	donor_gain	1.0000
19:57966529:C:CA	donor_gain	1.0000
19:57966529:CTAT:C	donor_gain	1.0000
19:57966628:TATTG:T	acceptor_gain	1.0000
19:57966630:TTG:T	acceptor_gain	1.0000
19:57966633:C:CC	acceptor_gain	1.0000
19:57972517:C:CT	acceptor_gain	1.0000
19:57958715:TAA:T	acceptor_gain	0.9900
19:57958718:C:CC	acceptor_gain	0.9900
19:57961547:GTCGA:G	acceptor_gain	0.9900
19:57961550:GA:G	acceptor_gain	0.9900
19:57966521:GATAC:G	donor_loss	0.9900
19:57966522:ATAC:A	donor_loss	0.9900
19:57966523:TACTT:T	donor_loss	0.9900
19:57966524:ACT:A	donor_loss	0.9900
19:57966525:CTTAC:C	donor_loss	0.9900
19:57966526:T:TA	donor_loss	0.9900
19:57966527:TACT:T	donor_loss	0.9900
19:57966528:ACTA:A	donor_loss	0.9900
19:57966529:CT:C	donor_gain	0.9900
19:57966529:CTA:C	donor_gain	0.9900
19:57966529:CTATA:C	donor_gain	0.9900
19:57966631:TG:T	acceptor_gain	0.9900
19:57966632:GCT:G	acceptor_loss	0.9900
19:57970136:CTGA:C	donor_gain	0.9900
19:57972518:A:T	acceptor_gain	0.9900
19:57972563:T:C	acceptor_gain	0.9900
19:57961548:TCGA:T	acceptor_gain	0.9800

AlphaMissense

1406 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:57961401:G:C	F174L	0.972
19:57961401:G:T	F174L	0.972
19:57961403:A:G	F174L	0.972
19:57966571:G:C	S110R	0.962
19:57966571:G:T	S110R	0.962
19:57966573:T:G	S110R	0.962
19:57966583:G:C	S106R	0.939
19:57966583:G:T	S106R	0.939
19:57966585:T:G	S106R	0.939
19:57961402:A:G	F174S	0.911
19:57961402:A:C	F174C	0.880
19:57966558:A:G	C115R	0.878
19:57966555:C:G	G116R	0.877
19:57966555:C:T	G116R	0.877
19:57966566:G:T	A112D	0.875
19:57966554:C:T	G116E	0.866
19:57966563:A:G	L113P	0.852
19:57961394:A:G	S177P	0.848
19:57966578:G:T	A108D	0.845
19:57961399:A:G	I175T	0.844
19:57961411:A:G	L171P	0.828
19:57961510:A:G	L138P	0.824
19:57961519:A:G	L135P	0.822
19:57961399:A:C	I175S	0.821
19:57961538:C:G	A129P	0.814
19:57974409:G:C	F8L	0.801
19:57974409:G:T	F8L	0.801
19:57974411:A:G	F8L	0.801
19:57961399:A:T	I175N	0.782
19:57972476:G:C	F85L	0.777

dbSNP variants (sampled 300 via entrez): RS1000145483 (19:57973548 A>T), RS1000507352 (19:57961096 A>G), RS1000931403 (19:57960125 T>C), RS1000953531 (19:57960299 G>A), RS1001113375 (19:57962109 C>A,T), RS1001543476 (19:57961784 C>T), RS1001594267 (19:57964495 T>C), RS1001778194 (19:57959533 G>A), RS1001843890 (19:57975224 G>A), RS1002092330 (19:57970322 G>T), RS1002210701 (19:57959339 C>G), RS1002348539 (19:57974464 G>A), RS1002443111 (19:57970507 T>C), RS1002513125 (19:57973209 G>T), RS1002547930 (19:57963051 A>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

2 associations (top):

Study	Trait	p-value
GCST001762_374	Obesity-related traits	9.000000e-06
GCST008473_51	Visceral fat	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
propionaldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
abrine	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Cisplatin	decreases expression, affects cotreatment	1
Dexamethasone	decreases expression, affects cotreatment	1
Indomethacin	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Nickel	decreases expression	1
Quercetin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Copper Sulfate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D7L5	Ubigene A-549 C19orf18 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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