C11orf68

Summary

C11orf68 (chromosome 11 open reading frame 68, HGNC:28801) is a protein-coding gene on chromosome 11q13.1, encoding UPF0696 protein C11orf68 (Q9H3H3).

Enables RNA binding activity.

Source: NCBI Gene 83638 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001135635

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28801
Approved symbol	C11orf68
Name	chromosome 11 open reading frame 68
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	P5326, BLES03
Ensembl gene	ENSG00000175573
Ensembl biotype	protein_coding
Entrez	83638

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000438576, ENST00000449692, ENST00000530188

RefSeq mRNA: 2 — MANE Select: NM_001135635 NM_001135635, NM_031450

CCDS: CCDS44652, CCDS8122

Canonical transcript exons

ENST00000438576 — 2 exons

Exon	Start	End
ENSE00001790516	65916810	65918218
ENSE00002185927	65918910	65919062

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 96.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.7028 / max 193.3725, expressed in 1817 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120735	17.8728	1816
120736	0.5498	290
120737	0.2802	108

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	96.49	gold quality
cerebellar hemisphere	UBERON:0002245	96.20	gold quality
cerebellar cortex	UBERON:0002129	96.16	gold quality
cerebellum	UBERON:0002037	95.51	gold quality
right frontal lobe	UBERON:0002810	95.50	gold quality
prefrontal cortex	UBERON:0000451	95.30	gold quality
apex of heart	UBERON:0002098	95.29	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.47	gold quality
gastrocnemius	UBERON:0001388	94.37	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.35	gold quality
right coronary artery	UBERON:0001625	94.34	gold quality
thoracic aorta	UBERON:0001515	94.30	gold quality
ascending aorta	UBERON:0001496	94.29	gold quality
cingulate cortex	UBERON:0003027	94.13	gold quality
anterior cingulate cortex	UBERON:0009835	94.13	gold quality
aorta	UBERON:0000947	94.12	gold quality
popliteal artery	UBERON:0002250	94.04	gold quality
tibial artery	UBERON:0007610	94.02	gold quality
body of uterus	UBERON:0009853	93.83	gold quality
stromal cell of endometrium	CL:0002255	93.72	gold quality
frontal cortex	UBERON:0001870	93.68	gold quality
right testis	UBERON:0004534	93.65	gold quality
descending thoracic aorta	UBERON:0002345	93.60	gold quality
left testis	UBERON:0004533	93.58	gold quality
endocervix	UBERON:0000458	93.48	gold quality
neocortex	UBERON:0001950	93.46	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.34	gold quality
lower esophagus	UBERON:0013473	93.32	gold quality
muscle of leg	UBERON:0001383	93.27	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.20	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.61
E-GEOD-75367	no	152.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting C11orf68, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-6828-5P	99.31	69.21	1433

Literature-anchored findings (GeneRIF, showing 1)

• crystal structure of the human basophilic leukemia-expressed protein (BLES03, p5326, Hs.433573) was determined by single-wavelength anomalous diffraction and refined to an R factor of 18.8% (Rfree = 24.5%) at 2.5 A resolution (PMID:16511166)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C7H11orf68	ENSDARG00000019406
mus_musculus	AI837181	ENSMUSG00000047423
rattus_norvegicus	Bles03	ENSRNOG00000020551

Protein

Protein identifiers

UPF0696 protein C11orf68 — Q9H3H3 (reviewed: Q9H3H3)

Alternative names: Basophilic leukemia-expressed protein Bles03, Protein p5326

All UniProt accessions (1): Q9H3H3

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. Dubious isoform based on intron retention.

Similarity. Belongs to the UPF0696 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H3H3-2	2	yes
Q9H3H3-1	1
Q9H3H3-3	3

RefSeq proteins (2): NP_001129107, NP_113638 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015034	Bles03	Family
IPR023398	TIF_eIF4e-like	Homologous_superfamily

Pfam: PF08939

UniProt features (30 total): strand 10, helix 9, turn 3, compositionally biased region 2, splice variant 2, chain 1, region of interest 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1ZTP	X-RAY DIFFRACTION	2.5
2Q4K	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H3H3-F1	83.32	0.73

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): 29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 128 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, chr11q13, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, ZF5_01, KRIEG_HYPOXIA_NOT_VIA_KDM3A, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE10240_CTRL_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_DN, CBX5_TARGET_GENES, CEBPZ_TARGET_GENES, CHAF1B_TARGET_GENES, CHAMP1_TARGET_GENES, CIITA_TARGET_GENES, HAND1_TARGET_GENES, HDAC4_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	1
binding	1

Protein interactions and networks

STRING

396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C11orf68	EVA1B	Q9NVM1	446
C11orf68	FICD	Q9BVA6	401
C11orf68	TMEM156	Q8N614	393
C11orf68	KCNG3	Q8TAE7	336
C11orf68	CYP2W1	Q8TAV3	322
C11orf68	SHISA2	Q6UWI4	322
C11orf68	DRAP1	Q14919	320
C11orf68	LANCL1	O43813	315
C11orf68	OR6N2	Q8NGY6	311
C11orf68	KCNG4	Q8TDN1	290
C11orf68	IWS1	Q96ST2	275
C11orf68	EDARADD	Q8WWZ3	269
C11orf68	KRTAP19-1	Q8IUB9	267
C11orf68	RIOK1	Q9BRS2	256
C11orf68	MXD4	Q14582	249

IntAct

24 interactions, top by confidence:

A	B	Type	Score
EIF4H	C11orf68	psi-mi:“MI:0915”(physical association)	0.740
C11orf68	EIF4H	psi-mi:“MI:0915”(physical association)	0.740
SDCBP	C11orf68	psi-mi:“MI:0915”(physical association)	0.560
C11orf68	REL	psi-mi:“MI:0915”(physical association)	0.560
C11orf68	NONO	psi-mi:“MI:0915”(physical association)	0.560
REL	C11orf68	psi-mi:“MI:0915”(physical association)	0.560
NONO	C11orf68	psi-mi:“MI:0915”(physical association)	0.560
STRAP	CDK2AP1	psi-mi:“MI:0914”(association)	0.530
Bles03		psi-mi:“MI:0915”(physical association)	0.400
CSDE1	C11orf68	psi-mi:“MI:0915”(physical association)	0.370
C11orf68	KCNE3	psi-mi:“MI:0915”(physical association)	0.370
PRNP	CARNS1	psi-mi:“MI:0914”(association)	0.350
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
STRAP	GEMIN2	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
C11orf68	SH3GL3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (30): C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Affinity Capture-MS), SH3GL3 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid), C11orf68 (Two-hybrid)

ESM2 similar proteins: A2XFU4, A2XFU5, A2XVN3, A2YQ58, A3AVP1, A4D2B0, A4IFA8, A7HDG9, A8ID74, A8IF44, A8J1V4, A8MPS7, B1WBV0, B4UH39, B8JE35, G8XHD8, O86507, P29784, P52824, Q08325, Q0D3F2, Q0D9V6, Q0DSH9, Q10MI9, Q1CW46, Q2HJB0, Q2IQ95, Q2RSY6, Q498J9, Q50863, Q50864, Q53JI9, Q53U11, Q566Q8, Q5GA22, Q5NAI7, Q6AYD1, Q72DW3, Q758T2, Q82JN8

Diamond homologs: A4IFA8, Q566Q8, Q6NWH0, Q8VD62, Q9H3H3

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	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

220 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65918708:A:AC	donor_gain	0.9900
11:65918709:C:CC	donor_gain	0.9900
11:65918911:T:TA	donor_gain	0.9900
11:65918709:CAGA:C	donor_gain	0.9800
11:65918216:CTG:C	acceptor_gain	0.9700
11:65918214:TCCTG:T	acceptor_gain	0.9500
11:65918215:CCTGC:C	acceptor_gain	0.9500
11:65918219:C:CC	acceptor_gain	0.9400
11:65918905:GTCA:G	donor_loss	0.9300
11:65918906:TCA:T	donor_loss	0.9300
11:65918907:CACCT:C	donor_loss	0.9300
11:65918908:A:G	donor_loss	0.9300
11:65918909:C:T	donor_loss	0.9300
11:65918910:C:G	donor_loss	0.9200
11:65918709:CAG:C	donor_gain	0.8900
11:65918585:T:A	donor_gain	0.8700
11:65918211:CCATC:C	acceptor_gain	0.8500
11:65918212:CATCC:C	acceptor_gain	0.8500
11:65918903:CAGT:C	donor_loss	0.8500
11:65918904:AGTC:A	donor_loss	0.8500
11:65918217:TGC:T	acceptor_loss	0.8200
11:65918218:GCT:G	acceptor_loss	0.8200
11:65918219:C:A	acceptor_loss	0.8200
11:65918707:TACAG:T	donor_gain	0.8100
11:65918708:ACAGA:A	donor_gain	0.8100
11:65918709:CAGAC:C	donor_gain	0.8100
11:65918912:C:A	donor_gain	0.7600
11:65918214:TCC:T	acceptor_loss	0.7500
11:65918215:CCT:C	acceptor_loss	0.7500
11:65918216:CT:C	acceptor_loss	0.7500

AlphaMissense

1868 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65917603:C:A	K245N	1.000
11:65917603:C:G	K245N	1.000
11:65917830:A:G	W170R	1.000
11:65917830:A:T	W170R	1.000
11:65917983:A:G	W119R	1.000
11:65917983:A:T	W119R	1.000
11:65917605:T:C	K245E	0.999
11:65917608:A:C	Y244D	0.999
11:65917738:C:A	K200N	0.999
11:65917738:C:G	K200N	0.999
11:65917786:C:A	W184C	0.999
11:65917786:C:G	W184C	0.999
11:65917788:A:G	W184R	0.999
11:65917788:A:T	W184R	0.999
11:65917826:A:G	L171P	0.999
11:65917828:C:A	W170C	0.999
11:65917828:C:G	W170C	0.999
11:65917829:C:G	W170S	0.999
11:65917831:C:A	K169N	0.999
11:65917831:C:G	K169N	0.999
11:65917835:C:A	G168V	0.999
11:65917835:C:T	G168D	0.999
11:65917859:G:T	A160D	0.999
11:65917981:C:A	W119C	0.999
11:65917981:C:G	W119C	0.999
11:65918130:C:G	A70P	0.999
11:65917531:G:C	S269R	0.998
11:65917531:G:T	S269R	0.998
11:65917533:T:G	S269R	0.998
11:65917564:A:C	N258K	0.998

dbSNP variants (sampled 300 via entrez): RS1000308235 (11:65917377 C>A,T), RS1000349113 (11:65917129 G>A), RS1000443577 (11:65917144 G>C), RS1001663632 (11:65917485 G>A,C), RS1001859441 (11:65916448 G>C), RS1001890623 (11:65916681 G>A), RS1002002692 (11:65919076 G>A), RS1002118650 (11:65919003 G>A,T), RS1002514295 (11:65919291 C>A,G,T), RS1003675475 (11:65919951 G>A,C), RS1003996787 (11:65916745 A>G), RS1004339217 (11:65919099 TCAGCGGCCG>T,TCAGCGGCCGCAGCGGCCG), RS1004384787 (11:65916492 G>A), RS1004558761 (11:65920232 C>T), RS1005076716 (11:65920047 C>G,T)

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
GCST002481_8	Acne (severe)	3.000000e-11
GCST009798_25	Asthma	2.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases reaction, decreases expression, increases expression, affects binding	3
Silicon Dioxide	increases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
ICG 001	decreases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Bortezomib	decreases expression	1
Temozolomide	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cisplatin	affects response to substance	1
Dactinomycin	affects cotreatment, increases secretion	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Hydrogen Peroxide	affects expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Selenium	increases expression	1
Smoke	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Vitamin E	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Asbestos, Crocidolite	increases expression	1

Clinical trials (associated diseases)

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