C11orf52

Summary

C11orf52 (chromosome 11 open reading frame 52, HGNC:30531) is a protein-coding gene on chromosome 11q23.1, encoding Uncharacterized protein C11orf52 (Q96A22).

Located in extracellular exosome.

Source: NCBI Gene 91894 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 6 total — 1 likely-pathogenic
• MANE Select transcript: NM_080659

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30531
Approved symbol	C11orf52
Name	chromosome 11 open reading frame 52
Location	11q23.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC14839, FLJ25219
Ensembl gene	ENSG00000149300
Ensembl biotype	protein_coding
Entrez	91894

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000278601, ENST00000527286, ENST00000529012, ENST00000529342

RefSeq mRNA: 1 — MANE Select: NM_080659 NM_080659

CCDS: CCDS8353

Canonical transcript exons

ENST00000278601 — 4 exons

Exon	Start	End
ENSE00000996208	111918913	111919004
ENSE00002177727	111925960	111926871
ENSE00003478044	111924326	111924363
ENSE00003784981	111925653	111925714

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 93.71.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6299 / max 36.6849, expressed in 471 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116659	1.4854	458
116658	0.0983	50
116662	0.0201	5
116663	0.0184	9
116657	0.0078	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult mammalian kidney	UBERON:0000082	93.71	gold quality
metanephros cortex	UBERON:0010533	89.80	gold quality
kidney	UBERON:0002113	88.95	gold quality
body of pancreas	UBERON:0001150	88.68	gold quality
pancreas	UBERON:0001264	87.73	gold quality
islet of Langerhans	UBERON:0000006	87.62	gold quality
right uterine tube	UBERON:0001302	87.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.26	gold quality
cortex of kidney	UBERON:0001225	86.98	gold quality
placenta	UBERON:0001987	85.52	gold quality
right lobe of liver	UBERON:0001114	85.04	gold quality
saliva-secreting gland	UBERON:0001044	84.85	gold quality
left lobe of thyroid gland	UBERON:0001120	84.82	gold quality
right lobe of thyroid gland	UBERON:0001119	84.62	gold quality
pituitary gland	UBERON:0000007	84.49	gold quality
thyroid gland	UBERON:0002046	84.34	gold quality
minor salivary gland	UBERON:0001830	84.28	gold quality
liver	UBERON:0002107	84.03	gold quality
body of stomach	UBERON:0001161	83.69	gold quality
gall bladder	UBERON:0002110	83.29	gold quality
adenohypophysis	UBERON:0002196	82.92	gold quality
fundus of stomach	UBERON:0001160	82.02	gold quality
stomach	UBERON:0000945	81.69	gold quality
prostate gland	UBERON:0002367	81.31	gold quality
duodenum	UBERON:0002114	81.20	gold quality
mucosa of transverse colon	UBERON:0004991	81.07	gold quality
gastrocnemius	UBERON:0001388	80.23	gold quality
muscle of leg	UBERON:0001383	79.75	gold quality
fallopian tube	UBERON:0003889	79.19	gold quality
skin of abdomen	UBERON:0001416	79.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting C11orf52, 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-6867-5P	100.00	82.21	3464
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-6512-5P	98.76	69.29	1195
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-1470	98.11	63.53	399
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-4690-3P	97.02	64.72	981
HSA-MIR-5685	97.02	64.34	1004
HSA-MIR-4793-3P	94.87	65.85	896

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	2310030G06Rik	ENSMUSG00000032062
rattus_norvegicus	Hspb2	ENSRNOG00000051792

Protein

Protein identifiers

Uncharacterized protein C11orf52 — Q96A22 (reviewed: Q96A22)

All UniProt accessions (2): Q96A22, E9PPX5

RefSeq proteins (1): NP_542390* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028106	DUF4578	Family

Pfam: PF15147

UniProt features (7 total): compositionally biased region 2, modified residue 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A22-F1	61.42	0.07

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 (2): 30, 62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, CHANDRAN_METASTASIS_DN, CAGCTG_AP4_Q5, CCANNAGRKGGC_UNKNOWN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, HEN1_01, WTGAAAT_UNKNOWN, AFP1_Q6, CUI_TCF21_TARGETS_2_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_ICP_WITH_H3K4ME3

GO Biological Process (0):

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

GO Cellular Component (1): extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
extracellular vesicle	1

Protein interactions and networks

STRING

258 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C11orf52	FRMD4A	Q9P2Q2	471
C11orf52	CCDC90B	Q9GZT6	446
C11orf52	TMEM86A	Q8N2M4	417
C11orf52	IFFO1	Q0D2I5	396
C11orf52	ZSWIM5	Q9P217	391
C11orf52	POU2AF3	A8K830	377
C11orf52	MT1HL1	P0DM35	370
C11orf52	TMEM87A	Q8NBN3	367
C11orf52	PPEF2	O14830	355
C11orf52	CRYGN	Q8WXF5	352
C11orf52	TMEM51	Q9NW97	350
C11orf52	AAMDC	Q9H7C9	349
C11orf52	MTARC2	Q969Z3	339
C11orf52	TMCC3	Q9ULS5	336
C11orf52	TMEM14C	Q9P0S9	323

IntAct

6 interactions, top by confidence:

A	B	Type	Score
RMC1	C11orf52	psi-mi:“MI:0915”(physical association)	0.560
C11orf52	RMC1	psi-mi:“MI:0915”(physical association)	0.560
C11orf52	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
MAGI1	CIT	psi-mi:“MI:0914”(association)	0.350

BioGRID (310): C11orf52 (Reconstituted Complex), C11orf52 (Affinity Capture-MS), C11orf52 (Proximity Label-MS), C11orf52 (Two-hybrid), SEPT7 (Proximity Label-MS), ABCC1 (Proximity Label-MS), ABCC5 (Proximity Label-MS), ABI1 (Proximity Label-MS), ABLIM1 (Proximity Label-MS), ACBD3 (Proximity Label-MS), ACOT9 (Proximity Label-MS), ADCY9 (Proximity Label-MS), ADD1 (Proximity Label-MS), ADD2 (Proximity Label-MS), ADD3 (Proximity Label-MS)

ESM2 similar proteins: A4F4L0, D7PDD4, O00453, O08843, O43914, O46631, O54885, P0CAN6, P11911, P11912, P40259, P40293, P40931, P78324, P86176, P97710, P97797, Q07763, Q13113, Q2KIP5, Q2YFS3, Q3U4N7, Q3UU41, Q3UU67, Q495A1, Q5M869, Q5RA41, Q60837, Q6MG59, Q6SJQ7, Q6UX27, Q6X9T7, Q6ZWK4, Q86YW5, Q8CJ26, Q8IW00, Q8K1T1, Q8MII8, Q8N386, Q8NET5

Diamond homologs: Q96A22, Q9D8L0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
395086	GRCh37/hg19 11q23.1(chr11:111779685-111797221)x1	Likely pathogenic

SpliceAI

250 predictions. Top by Δscore:

Variant	Effect	Δscore
11:111925648:CTCA:C	acceptor_loss	1.0000
11:111925649:TCA:T	acceptor_loss	1.0000
11:111925651:A:AG	acceptor_gain	1.0000
11:111925651:A:AT	acceptor_loss	1.0000
11:111925652:G:GC	acceptor_loss	1.0000
11:111925652:G:GG	acceptor_gain	1.0000
11:111925652:GGA:G	acceptor_gain	1.0000
11:111925652:GGAA:G	acceptor_gain	1.0000
11:111925714:GGTAA:G	donor_loss	1.0000
11:111925715:G:A	donor_loss	1.0000
11:111919001:GCTG:G	donor_gain	0.9900
11:111919005:G:GG	donor_gain	0.9900
11:111919005:GTG:G	donor_loss	0.9900
11:111919006:TGA:T	donor_loss	0.9900
11:111919007:GAG:G	donor_loss	0.9900
11:111924320:TTACA:T	acceptor_loss	0.9900
11:111924321:TACA:T	acceptor_loss	0.9900
11:111924324:A:T	acceptor_loss	0.9900
11:111924325:G:GT	acceptor_loss	0.9900
11:111924360:ACAG:A	donor_loss	0.9900
11:111924361:CAG:C	donor_loss	0.9900
11:111924362:AG:A	donor_loss	0.9900
11:111924363:GG:G	donor_loss	0.9900
11:111925651:AG:A	acceptor_gain	0.9900
11:111925652:GG:G	acceptor_gain	0.9900
11:111925956:GCAG:G	acceptor_loss	0.9900
11:111925958:A:AG	acceptor_gain	0.9900
11:111925958:A:T	acceptor_loss	0.9900
11:111925958:AG:A	acceptor_gain	0.9900
11:111925959:G:GG	acceptor_gain	0.9900

AlphaMissense

798 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:111926149:T:C	F108L	0.975
11:111926151:C:A	F108L	0.975
11:111926151:C:G	F108L	0.975
11:111926150:T:C	F108S	0.966
11:111926069:T:C	I81T	0.964
11:111926150:T:G	F108C	0.953
11:111926135:A:C	Y103S	0.944
11:111926069:T:G	I81S	0.940
11:111926063:C:A	A79D	0.935
11:111926134:T:C	Y103H	0.931
11:111926069:T:A	I81N	0.930
11:111926135:A:G	Y103C	0.918
11:111926062:G:C	A79P	0.908
11:111926138:C:A	A104E	0.900
11:111926144:T:A	L106H	0.899
11:111926134:T:G	Y103D	0.896
11:111926186:G:T	G120V	0.895
11:111926195:T:A	V123E	0.893
11:111926137:G:C	A104P	0.892
11:111926149:T:G	F108V	0.891
11:111926175:C:A	D116E	0.886
11:111926175:C:G	D116E	0.886
11:111926170:T:G	Y115D	0.885
11:111926174:A:T	D116V	0.873
11:111926171:A:C	Y115S	0.868
11:111926174:A:G	D116G	0.856
11:111926059:T:G	Y78D	0.853
11:111926060:A:C	Y78S	0.851
11:111926185:G:T	G120W	0.851
11:111926059:T:A	Y78N	0.849

dbSNP variants (sampled 300 via entrez): RS1000403837 (11:111918856 A>G,T), RS1001245516 (11:111924842 G>A,C), RS1001320644 (11:111925123 A>G), RS1002509286 (11:111917044 A>G), RS1003261138 (11:111921478 A>G,T), RS1003292118 (11:111921761 T>A,C), RS1004407909 (11:111922254 C>A,T), RS1004813728 (11:111921113 G>A), RS1006269885 (11:111926258 C>T), RS1006994474 (11:111920697 G>A), RS1007330250 (11:111920445 C>G,T), RS1007820968 (11:111925956 G>A,C,T), RS1008087752 (11:111924001 T>A), RS1008936815 (11:111917434 T>A), RS1010333542 (11:111923866 G>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:615184

GenCC curated gene-disease

Mondo (2): dilated cardiomyopathy 1II (MONDO:0014073), breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (1): Familial isolated dilated cardiomyopathy (Orphanet:154)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
Aflatoxin B1	affects expression, decreases expression, increases methylation	3
trichostatin A	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases methylation	2
Cyclosporine	decreases expression	2
bisphenol A	affects expression	1
ethyl-p-hydroxybenzoate	increases expression	1
mercuric bromide	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Panobinostat	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Hydrogen Peroxide	affects expression	1
Nickel	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Smoke	increases abundance, increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery