C8orf33

Summary

C8orf33 (chromosome 8 open reading frame 33, HGNC:26104) is a protein-coding gene on chromosome 8q24.3, encoding UPF0488 protein C8orf33 (Q9H7E9). It is a selective cancer dependency (DepMap: 14.8% of cell lines).

At a glance

• Clinical variants (ClinVar): 22 total
• Cancer dependency (DepMap): dependent in 14.8% of screened cell lines
• MANE Select transcript: NM_023080

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26104
Approved symbol	C8orf33
Name	chromosome 8 open reading frame 33
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20989
Ensembl gene	ENSG00000182307
Ensembl biotype	protein_coding
Entrez	65265

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 4 retained_intron

ENST00000331434, ENST00000524395, ENST00000529593, ENST00000530455, ENST00000534350, ENST00000647640, ENST00000647724, ENST00000648531, ENST00000648784, ENST00000879552, ENST00000879553, ENST00000914381, ENST00000914382

RefSeq mRNA: 1 — MANE Select: NM_023080 NM_023080

CCDS: CCDS34974

Canonical transcript exons

ENST00000331434 — 5 exons

Exon	Start	End
ENSE00001504072	145052586	145052897
ENSE00003477034	145053297	145053443
ENSE00003481728	145054018	145056030
ENSE00003588475	145053062	145053146
ENSE00003837975	145052467	145052497

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 96.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.9248 / max 401.3720, expressed in 1824 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91544	36.9681	1821
91543	5.6328	1701
91542	1.1869	784
91545	0.1370	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	96.11	gold quality
right adrenal gland	UBERON:0001233	95.92	gold quality
left adrenal gland	UBERON:0001234	95.65	gold quality
adrenal cortex	UBERON:0001235	95.42	gold quality
left adrenal gland cortex	UBERON:0035825	95.41	gold quality
adrenal gland	UBERON:0002369	95.10	gold quality
adrenal tissue	UBERON:0018303	93.72	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.98	gold quality
spinal cord	UBERON:0002240	92.89	gold quality
ventricular zone	UBERON:0003053	92.51	gold quality
left ovary	UBERON:0002119	92.04	gold quality
rectum	UBERON:0001052	91.99	gold quality
amygdala	UBERON:0001876	91.81	gold quality
superior vestibular nucleus	UBERON:0007227	91.58	gold quality
right ovary	UBERON:0002118	91.44	gold quality
substantia nigra pars compacta	UBERON:0001965	91.35	gold quality
islet of Langerhans	UBERON:0000006	91.11	gold quality
ganglionic eminence	UBERON:0004023	91.08	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.05	gold quality
anterior cingulate cortex	UBERON:0009835	90.98	gold quality
right frontal lobe	UBERON:0002810	90.94	gold quality
cingulate cortex	UBERON:0003027	90.94	gold quality
seminal vesicle	UBERON:0000998	90.73	gold quality
tibial nerve	UBERON:0001323	90.73	gold quality
substantia nigra	UBERON:0002038	90.65	gold quality
midbrain	UBERON:0001891	90.58	gold quality
right coronary artery	UBERON:0001625	90.55	gold quality
hypothalamus	UBERON:0001898	90.49	gold quality
putamen	UBERON:0001874	90.47	gold quality
caudate nucleus	UBERON:0001873	90.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.72
E-MTAB-10137	yes	3.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting C8orf33, 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-7110-3P	100.00	73.18	2486
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-302F	98.44	69.02	1776

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 14.8% of screened cell lines.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:112185	ENSDARG00000038556
mus_musculus	1110038F14Rik	ENSMUSG00000063236
rattus_norvegicus	C7h8orf33	ENSRNOG00000034107
drosophila_melanogaster	CG14286	FBGN0038673

Protein

Protein identifiers

UPF0488 protein C8orf33 — Q9H7E9 (reviewed: Q9H7E9)

All UniProt accessions (4): Q9H7E9, A0A3B3IRR6, A0A3B3IT54, A0A3B3ITA3

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0488 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H7E9-1	1	yes
Q9H7E9-2	2

RefSeq proteins (1): NP_075568* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029274	DUF4615	Family

Pfam: PF15393

UniProt features (9 total): modified residue 3, compositionally biased region 2, initiator methionine 1, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7E9-F1	72.29	0.37

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 (3): 2, 27, 82

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 124 (showing top): ONKEN_UVEAL_MELANOMA_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HAN_SATB1_TARGETS_DN, ACEVEDO_LIVER_CANCER_UP, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, VECCHI_GASTRIC_CANCER_EARLY_UP, MARTENS_TRETINOIN_RESPONSE_DN, JOHNSTONE_PARVB_TARGETS_2_DN, chr8q24, RREB1_01, EIF4E_UP, ALKBH3_TARGET_GENES, CEBPZ_TARGET_GENES, DIDO1_TARGET_GENES, HDAC4_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

876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C8orf33	NUDCD1	Q96RS6	445
C8orf33	ZNF48	Q96MX3	444
C8orf33	ZNF623	O75123	435
C8orf33	POP1	Q99575	431
C8orf33	ZNF250	P15622	427
C8orf33	ZHX1-C8orf76	Q96EF9	420
C8orf33	C8orf76	Q96K31	418
C8orf33	DSCC1	Q9BVC3	414
C8orf33	TIGD5	Q53EQ6	411
C8orf33	ZNF16	P17020	400
C8orf33	TSNAXIP1	Q2TAA8	398
C8orf33	COMMD5	Q9GZQ3	393
C8orf33	LRRCC1	Q9C099	373
C8orf33	LRRC14	Q15048	371
C8orf33	RHBDL1	O75783	356

IntAct

211 interactions, top by confidence:

A	B	Type	Score
C8orf33	CEP70	psi-mi:“MI:0915”(physical association)	0.740
CEP70	C8orf33	psi-mi:“MI:0915”(physical association)	0.740
SRP68	SRP72	psi-mi:“MI:0914”(association)	0.730
C8orf33	HMBOX1	psi-mi:“MI:0915”(physical association)	0.720
HMBOX1	C8orf33	psi-mi:“MI:0915”(physical association)	0.720
MDFI	C8orf33	psi-mi:“MI:0915”(physical association)	0.700
PTK2	TGFB1I1	psi-mi:“MI:0914”(association)	0.680
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
C8orf33	TRIM23	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	C8orf33	psi-mi:“MI:0915”(physical association)	0.560
IKZF1	C8orf33	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	C8orf33	psi-mi:“MI:0915”(physical association)	0.560
C8orf33	KCTD6	psi-mi:“MI:0915”(physical association)	0.560
PNMA1	C8orf33	psi-mi:“MI:0915”(physical association)	0.560
C8orf33	LZTS2	psi-mi:“MI:0915”(physical association)	0.560
C8orf33	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
C8orf33	IKZF1	psi-mi:“MI:0915”(physical association)	0.560
KCTD6	C8orf33	psi-mi:“MI:0915”(physical association)	0.560
C8orf33	PNMA1	psi-mi:“MI:0915”(physical association)	0.560
LZTS2	C8orf33	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (197): C8orf33 (Two-hybrid), C8orf33 (Two-hybrid), C8orf33 (Two-hybrid), HMBOX1 (Two-hybrid), CEP70 (Two-hybrid), LZTS2 (Two-hybrid), FAM9B (Two-hybrid), KCTD6 (Two-hybrid), KRTAP10-7 (Two-hybrid), C8orf33 (Affinity Capture-RNA), C8orf33 (Affinity Capture-RNA), C8orf33 (Affinity Capture-RNA), C8orf33 (Affinity Capture-MS), C8orf33 (Affinity Capture-MS), C8orf33 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVZ6, A4IFR0, A6NF83, A6NI87, A6QPM6, A7XCE8, B9VXI8, F1MQW7, F5HHT4, P03294, P04610, P05905, P05907, P05908, P0C733, P16722, P17758, P20893, P24097, P25132, P70339, Q0P427, Q0VD86, Q1HVB5, Q24JP4, Q32PB4, Q497P3, Q5PR19, Q5PXH1, Q5R5R7, Q5RDQ4, Q5SZD1, Q63630, Q68FQ8, Q6UYE1, Q86SI9, Q89721, Q8AZJ3, Q8BG31, Q8C1R3

Diamond homologs: Q2KID8, Q3U6N9, Q5BJC4, Q5RDQ4, Q9H7E9, Q9VE11

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Peptide chain elongation	15	18.5×	3e-13
Viral mRNA Translation	15	18.5×	3e-13
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	15	18.3×	3e-13
Selenocysteine synthesis	15	17.5×	4e-13
Eukaryotic Translation Termination	15	17.5×	4e-13
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	15	17.1×	4e-13
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	15	17.1×	4e-13
SRP-dependent cotranslational protein targeting to membrane	17	16.5×	5e-14

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal large subunit biogenesis	7	21.0×	9e-06
cytoplasmic translation	15	18.8×	2e-12
rRNA processing	13	12.4×	1e-08
ribosomal small subunit biogenesis	8	12.3×	6e-05
translation	17	11.8×	4e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

646 predictions. Top by Δscore:

Variant	Effect	Δscore
8:145052871:G:GT	donor_gain	1.0000
8:145053142:ACAGA:A	donor_gain	1.0000
8:145053143:CAGA:C	donor_gain	1.0000
8:145053145:GA:G	donor_gain	1.0000
8:145053147:G:GG	donor_gain	1.0000
8:145053293:GCAG:G	acceptor_loss	1.0000
8:145053295:A:AG	acceptor_gain	1.0000
8:145053295:A:AT	acceptor_loss	1.0000
8:145053296:G:GA	acceptor_gain	1.0000
8:145053296:GAA:G	acceptor_gain	1.0000
8:145053296:GAAGA:G	acceptor_gain	1.0000
8:145053404:G:GT	donor_gain	1.0000
8:145053440:GCTG:G	donor_gain	1.0000
8:145053472:G:GT	donor_gain	1.0000
8:145052840:C:T	donor_gain	0.9900
8:145052880:C:CG	donor_gain	0.9900
8:145052880:C:G	donor_gain	0.9900
8:145052887:C:G	donor_gain	0.9900
8:145052903:G:GT	donor_gain	0.9900
8:145053143:CAGAG:C	donor_loss	0.9900
8:145053144:AGA:A	donor_gain	0.9900
8:145053144:AGAGT:A	donor_loss	0.9900
8:145053145:GAG:G	donor_gain	0.9900
8:145053146:AG:A	donor_loss	0.9900
8:145053148:TAAG:T	donor_loss	0.9900
8:145053289:A:AG	acceptor_gain	0.9900
8:145053292:C:CA	acceptor_gain	0.9900
8:145053296:GA:G	acceptor_gain	0.9900
8:145053441:CTGGT:C	donor_loss	0.9900
8:145053442:TGGTG:T	donor_loss	0.9900

AlphaMissense

1469 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:145053358:G:C	K155N	0.988
8:145053358:G:T	K155N	0.988
8:145053369:T:C	M159T	0.987
8:145054143:T:C	F226L	0.977
8:145054145:C:A	F226L	0.977
8:145054145:C:G	F226L	0.977
8:145053370:G:A	M159I	0.976
8:145053370:G:C	M159I	0.976
8:145053370:G:T	M159I	0.976
8:145054137:T:C	F224L	0.974
8:145054139:T:A	F224L	0.974
8:145054139:T:G	F224L	0.974
8:145053361:G:C	R156S	0.970
8:145053361:G:T	R156S	0.970
8:145053380:T:C	F163L	0.968
8:145053382:T:A	F163L	0.968
8:145053382:T:G	F163L	0.968
8:145053356:A:G	K155E	0.959
8:145054149:T:C	F228L	0.955
8:145054151:C:A	F228L	0.955
8:145054151:C:G	F228L	0.955
8:145054152:T:C	F229L	0.947
8:145054154:T:A	F229L	0.947
8:145054154:T:G	F229L	0.947
8:145053092:T:C	C117R	0.942
8:145053091:G:C	W116C	0.940
8:145053091:G:T	W116C	0.940
8:145053094:T:G	C117W	0.935
8:145053305:G:C	A138P	0.935
8:145053360:G:C	R156T	0.926

dbSNP variants (sampled 300 via entrez): RS1000149549 (8:145050922 GTGTTTTTTTTTTT>G), RS1001048733 (8:145052554 C>A,T), RS1001143172 (8:145052164 C>T), RS1001192765 (8:145053208 C>G,T), RS1001406776 (8:145055374 C>A,T), RS1002464618 (8:145054337 G>A,C,T), RS1003083669 (8:145055983 C>A,T), RS1003184645 (8:145050773 A>C), RS1003648069 (8:145051034 T>A), RS1003866450 (8:145053566 C>T), RS1004920487 (8:145052643 G>T), RS1005017066 (8:145054707 C>A,G), RS1005585223 (8:145055079 C>G,T), RS1006264465 (8:145050481 C>T), RS1007212130 (8:145055634 G>A,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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
Methotrexate	decreases expression	2
Nickel	increases expression	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
glycidyl methacrylate	increases expression	1
arsenite	affects binding, increases reaction	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Vitamin E	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	increases expression	1

Clinical trials (associated diseases)

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