C8orf82

Summary

C8orf82 (chromosome 8 open reading frame 82, HGNC:33826) is a protein-coding gene on chromosome 8q24.3, encoding UPF0598 protein C8orf82 (Q6P1X6).

Located in mitochondrion.

Source: NCBI Gene 414919 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_001001795

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33826
Approved symbol	C8orf82
Name	chromosome 8 open reading frame 82
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC70857
Ensembl gene	ENSG00000213563
Ensembl biotype	protein_coding
Entrez	414919

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000313465, ENST00000524821, ENST00000527462, ENST00000532827, ENST00000534680

RefSeq mRNA: 1 — MANE Select: NM_001001795 NM_001001795

CCDS: CCDS34970

Canonical transcript exons

ENST00000524821 — 3 exons

Exon	Start	End
ENSE00001212767	144528024	144528072
ENSE00002178068	144525733	144527787
ENSE00003889655	144528761	144529111

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 94.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9873 / max 102.7799, expressed in 1791 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95700	14.0534	1783
95699	1.8400	912
95697	0.4283	222
95696	0.3486	198
95698	0.3171	161

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	94.63	gold quality
parotid gland	UBERON:0001831	93.78	gold quality
kidney epithelium	UBERON:0004819	92.91	silver quality
pancreatic ductal cell	CL:0002079	92.42	silver quality
right lobe of liver	UBERON:0001114	92.18	gold quality
apex of heart	UBERON:0002098	92.11	gold quality
lower esophagus mucosa	UBERON:0035834	91.08	gold quality
mucosa of transverse colon	UBERON:0004991	89.50	gold quality
liver	UBERON:0002107	89.47	gold quality
left ventricle myocardium	UBERON:0006566	88.04	silver quality
cortex of kidney	UBERON:0001225	87.28	gold quality
adult mammalian kidney	UBERON:0000082	87.20	gold quality
heart left ventricle	UBERON:0002084	86.96	gold quality
prostate gland	UBERON:0002367	86.86	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.85	gold quality
cardiac ventricle	UBERON:0002082	86.76	gold quality
monocyte	CL:0000576	86.73	gold quality
right adrenal gland	UBERON:0001233	86.30	gold quality
metanephros cortex	UBERON:0010533	86.26	gold quality
leukocyte	CL:0000738	86.04	gold quality
right adrenal gland cortex	UBERON:0035827	85.97	gold quality
transverse colon	UBERON:0001157	85.92	gold quality
popliteal artery	UBERON:0002250	85.81	gold quality
tibial artery	UBERON:0007610	85.81	gold quality
sural nerve	UBERON:0015488	85.70	gold quality
ganglionic eminence	UBERON:0004023	85.61	gold quality
left adrenal gland	UBERON:0001234	85.41	gold quality
cortical plate	UBERON:0005343	85.38	gold quality
left adrenal gland cortex	UBERON:0035825	85.37	gold quality
metanephros	UBERON:0000081	85.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting C8orf82, 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-4713-3P	100.00	65.92	505
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-331-3P	98.76	64.91	793
HSA-MIR-3622A-3P	97.06	66.43	1000
HSA-MIR-3622B-3P	96.82	66.36	988
HSA-MIR-1237-5P	95.38	62.21	451
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457
HSA-MIR-3195	88.05	57.43	53
HSA-MIR-6499-5P	87.01	61.21	38
HSA-MIR-2277-5P	84.91	61.40	23

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	C030006K11Rik	ENSMUSG00000116138
rattus_norvegicus	C7h8orf82	ENSRNOG00000068599
drosophila_melanogaster	CG30010	FBGN0050010
caenorhabditis_elegans	F59C6.12	WBGENE00044251

Protein

Protein identifiers

UPF0598 protein C8orf82 — Q6P1X6 (reviewed: Q6P1X6)

All UniProt accessions (4): H0YEK9, H0YF29, J3KNI2, Q6P1X6

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0598 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P1X6-1	1	yes
Q6P1X6-2	2

RefSeq proteins (1): NP_001001795* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028108	DUF4505	Family

Pfam: PF14956

UniProt features (3 total): chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P1X6-F1	87.87	0.79

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 84 (showing top): AHRARNT_01, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, KMCATNNWGGA_UNKNOWN, MARTIN_VIRAL_GPCR_SIGNALING_UP, FREAC7_01, FOX_Q2, TGGAAA_NFAT_Q4_01, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, TEF_Q6, WAMUNYOKOLI_OVARIAN_CANCER_LMP_UP, MARTENS_TRETINOIN_RESPONSE_DN, LU_EZH2_TARGETS_UP, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_D, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_17, chr8q24

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C8orf82	C15orf40	Q8WUR7	570
C8orf82	THNSL1	Q8IYQ7	545
C8orf82	ZNF845	Q96IR2	512
C8orf82	C2orf69	Q8N8R5	471
C8orf82	C5orf63	A6NC05	450
C8orf82	DGLUCY	Q7Z3D6	448
C8orf82	NINJ2	Q9NZG7	446
C8orf82	CELF1	Q92879	438
C8orf82	SLC7A10	Q9NS82	436
C8orf82	ARSD	P51689	434
C8orf82	MYL5	Q02045	433
C8orf82	APH1B	Q8WW43	398
C8orf82	CCDC28B	Q9BUN5	370
C8orf82	TMEM253	P0C7T8	370
C8orf82	PRMT2	P55345	355

IntAct

13 interactions, top by confidence:

A	B	Type	Score
ETFA	ETFB	psi-mi:“MI:0914”(association)	0.810
ETFB	ETFA	psi-mi:“MI:0914”(association)	0.810
MRPS27	MRPS14	psi-mi:“MI:0914”(association)	0.640
MRPS27	YBX1	psi-mi:“MI:0914”(association)	0.530
ETFA	ETFB	psi-mi:“MI:0914”(association)	0.350
ETFA	NDUFAB1	psi-mi:“MI:0914”(association)	0.350
FECH	GTPBP10	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:2364”(proximity)	0.270
HSPD1	VWA8	psi-mi:“MI:2364”(proximity)	0.270
MGST3	VWA8	psi-mi:“MI:2364”(proximity)	0.270
PDK1	VWA8	psi-mi:“MI:2364”(proximity)	0.270
TRMT61B	VWA8	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (175): C8orf82 (Affinity Capture-MS), C8orf82 (Affinity Capture-MS), C8orf82 (Affinity Capture-MS), C8orf82 (Affinity Capture-MS), C8orf82 (Affinity Capture-MS), C8orf82 (Affinity Capture-MS), C8orf82 (Proximity Label-MS), C8orf82 (Proximity Label-MS), C8orf82 (Proximity Label-MS), C8orf82 (Proximity Label-MS), C8orf82 (Affinity Capture-RNA), C8orf82 (Proximity Label-MS), C8orf82 (Proximity Label-MS), C8orf82 (Proximity Label-MS), ACAD9 (Proximity Label-MS)

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2R8Y2Y2, A0A494C0N9, A0A494C0Y3, A0JNN8, A6NF83, A6NHQ4, A6QPM6, A8E4L3, A8MTW9, B2KGE5, C9JVW0, I3L1E1, O43541, O75474, O75638, P0C7X2, P70339, P89439, Q02080, Q05215, Q12950, Q3SYB3, Q5T230, Q5VV16, Q6NZ36, Q6NZY7, Q6P1X6, Q6VB84, Q6VUC0, Q6VUP9, Q6ZSJ8, Q7RTU5, Q7TNS8, Q80WY3, Q86SI9, Q86UU5, Q8K025

Diamond homologs: A8E4L3, Q564X7, Q642A4, Q6P1X6, Q8MKL1, Q8VE95

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

615 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144526955:CTCA:C	donor_loss	0.9900
8:144526956:TCACC:T	donor_loss	0.9900
8:144526957:CA:C	donor_loss	0.9900
8:144526958:A:AG	donor_loss	0.9900
8:144526959:C:A	donor_loss	0.9900
8:144528336:C:CT	donor_gain	0.9800
8:144526958:A:AC	donor_gain	0.9700
8:144526959:C:CC	donor_gain	0.9700
8:144527788:C:CC	acceptor_gain	0.9700
8:144528073:C:CC	acceptor_gain	0.9600
8:144528337:C:CT	donor_gain	0.9600
8:144528201:CGCA:C	acceptor_gain	0.9500
8:144529049:C:A	donor_gain	0.9500
8:144527785:GGTCT:G	acceptor_gain	0.9400
8:144527786:GTCTG:G	acceptor_gain	0.9400
8:144526564:C:CA	donor_gain	0.9200
8:144527698:C:CT	acceptor_gain	0.9200
8:144528794:G:A	donor_gain	0.9200
8:144527752:TCAG:T	acceptor_gain	0.9100
8:144528250:AT:A	donor_gain	0.9100
8:144528756:CCCA:C	donor_loss	0.9100
8:144528757:CCAC:C	donor_loss	0.9100
8:144528758:CAC:C	donor_loss	0.9100
8:144528759:ACCT:A	donor_loss	0.9100
8:144528760:C:T	donor_loss	0.9100
8:144526956:TCAC:T	donor_gain	0.9000
8:144526957:CACC:C	donor_gain	0.9000
8:144526958:A:T	donor_gain	0.9000
8:144526959:C:CG	donor_gain	0.9000
8:144528755:GCCCA:G	donor_loss	0.9000

AlphaMissense

1365 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:144528067:G:C	F54L	0.995
8:144528067:G:T	F54L	0.995
8:144528069:A:G	F54L	0.995
8:144527651:G:C	F114L	0.991
8:144527651:G:T	F114L	0.991
8:144527653:A:G	F114L	0.991
8:144527717:G:C	F92L	0.991
8:144527717:G:T	F92L	0.991
8:144527719:A:G	F92L	0.991
8:144528026:T:A	K68I	0.991
8:144528025:T:A	K68N	0.989
8:144528025:T:G	K68N	0.989
8:144528785:G:C	F44L	0.989
8:144528785:G:T	F44L	0.989
8:144528787:A:G	F44L	0.989
8:144527652:A:G	F114S	0.988
8:144528790:A:G	Y43H	0.987
8:144527527:G:C	H156D	0.986
8:144527655:A:T	V113D	0.986
8:144527777:G:C	F72L	0.986
8:144527777:G:T	F72L	0.986
8:144527779:A:G	F72L	0.986
8:144527530:A:C	Y155D	0.983
8:144527682:A:G	F104S	0.983
8:144527684:G:C	N103K	0.983
8:144527684:G:T	N103K	0.983
8:144528068:A:G	F54S	0.982
8:144527681:G:C	F104L	0.981
8:144527681:G:T	F104L	0.981
8:144527683:A:G	F104L	0.981

dbSNP variants (sampled 300 via entrez): RS1000003337 (8:144531076 G>A,C), RS1000169767 (8:144525649 T>C), RS1000833019 (8:144528213 G>A,C), RS1000962468 (8:144530022 A>G), RS1001058798 (8:144531044 C>G,T), RS1001077080 (8:144529899 C>A), RS1002105448 (8:144529066 C>T), RS1002308949 (8:144528972 A>C), RS1002527450 (8:144530224 T>A,C), RS1002631635 (8:144529714 T>G), RS1003418907 (8:144528862 C>A), RS1003638690 (8:144529012 G>C,T), RS1003727782 (8:144529900 C>T), RS1004094189 (8:144527312 C>G,T), RS1004876247 (8:144526892 G>A)

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

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
jinfukang	increases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Vorinostat	decreases expression	1
Allergens	increases expression	1
Cadmium	decreases expression	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Formaldehyde	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Thimerosal	decreases expression	1
Palmitic Acid	decreases expression	1
beta-Naphthoflavone	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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