C8orf58

Summary

C8orf58 (chromosome 8 open reading frame 58, HGNC:32233) is a protein-coding gene on chromosome 8p21.3, encoding Uncharacterized protein C8orf58 (Q8NAV2).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001013842

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32233
Approved symbol	C8orf58
Name	chromosome 8 open reading frame 58
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34715
Ensembl gene	ENSG00000241852
Ensembl biotype	protein_coding
Entrez	541565

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000289989, ENST00000409586, ENST00000453427, ENST00000475994, ENST00000495957, ENST00000614574, ENST00000905138, ENST00000905139, ENST00000955245

RefSeq mRNA: 3 — MANE Select: NM_001013842 NM_001013842, NM_001198827, NM_173686

CCDS: CCDS34862, CCDS56527, CCDS75708

Canonical transcript exons

ENST00000289989 — 7 exons

Exon	Start	End
ENSE00001282484	22602537	22602643
ENSE00001842733	22603195	22604142
ENSE00002097021	22602200	22602312
ENSE00002105764	22601972	22602080
ENSE00002715712	22599599	22599760
ENSE00003477260	22600882	22601357
ENSE00003484990	22601712	22601852

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 87.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.2580 / max 46.0952, expressed in 1650 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87835	3.3328	1477
87834	1.3587	914
87836	0.5665	344

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.28	gold quality
lower esophagus mucosa	UBERON:0035834	87.26	gold quality
spleen	UBERON:0002106	86.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.66	gold quality
cerebellar hemisphere	UBERON:0002245	84.44	gold quality
cerebellar cortex	UBERON:0002129	84.32	gold quality
apex of heart	UBERON:0002098	84.00	gold quality
sural nerve	UBERON:0015488	83.84	gold quality
right coronary artery	UBERON:0001625	83.70	gold quality
tibialis anterior	UBERON:0001385	83.25	silver quality
cerebellum	UBERON:0002037	82.89	gold quality
tibial nerve	UBERON:0001323	82.86	gold quality
upper arm skin	UBERON:0004263	82.74	gold quality
skin of leg	UBERON:0001511	82.61	gold quality
left testis	UBERON:0004533	82.52	gold quality
left coronary artery	UBERON:0001626	82.44	gold quality
right testis	UBERON:0004534	82.44	gold quality
ascending aorta	UBERON:0001496	82.43	gold quality
thoracic aorta	UBERON:0001515	82.43	gold quality
descending thoracic aorta	UBERON:0002345	82.42	gold quality
skin of abdomen	UBERON:0001416	81.90	gold quality
left uterine tube	UBERON:0001303	81.83	gold quality
upper lobe of left lung	UBERON:0008952	81.51	gold quality
omental fat pad	UBERON:0010414	81.49	gold quality
peritoneum	UBERON:0002358	81.44	gold quality
coronary artery	UBERON:0001621	81.41	gold quality
stromal cell of endometrium	CL:0002255	81.39	gold quality
ectocervix	UBERON:0012249	81.29	gold quality
granulocyte	CL:0000094	81.22	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-124858	no	22.88
E-ANND-3	no	1.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting C8orf58, 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-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-205-3P	99.92	69.92	3165
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-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-586	99.65	70.40	2051

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	9930012K11Rik	ENSMUSG00000044551
rattus_norvegicus	C15h8orf58	ENSRNOG00000008351

Protein

Protein identifiers

Uncharacterized protein C8orf58 — Q8NAV2 (reviewed: Q8NAV2)

All UniProt accessions (4): Q8NAV2, A0A087WX44, E5RJ64, H0YAZ5

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NAV2-1	1	yes
Q8NAV2-2	2

RefSeq proteins (3): NP_001013864, NP_001185756, NP_775957 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027958	DUF4657	Domain

Pfam: PF15552

UniProt features (7 total): region of interest 3, chain 1, compositionally biased region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NAV2-F1	55.13	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 93 (showing top): TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, chr8p21, CUI_TCF21_TARGETS_2_DN, CTGAGCC_MIR24, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, YAP1_UP, DACH1_TARGET_GENES, RYBP_TARGET_GENES, MIR205_3P, MIR4500, GSE10240_IL22_VS_IL22_AND_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, MIR1827, LET_7B_5P, LET_7A_5P_LET_7C_5P_LET_7E_5P, LET_7I_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C8orf58	NPIPB15	A6NHN6	480
C8orf58	PABIR2	Q7Z309	475
C8orf58	ZNF707	Q96C28	436
C8orf58	BIN3	Q9NQY0	419
C8orf58	TMEM196	Q5HYL7	418
C8orf58	CCAR2	Q8N163	401
C8orf58	SORBS3	O60504	372
C8orf58	RHOBTB2	Q9BYZ6	370
C8orf58	KIAA0040	Q15053	369
C8orf58	RNF157	Q96PX1	367
C8orf58	ZNF184	Q99676	358
C8orf58	TYW5	A2RUC4	355
C8orf58	LBX2	Q6XYB7	355
C8orf58	FAM171A1	Q5VUB5	354
C8orf58	GIGYF1	O75420	352

IntAct

4 interactions, top by confidence:

A	B	Type	Score
C8orf58	FCN1	psi-mi:“MI:0915”(physical association)	0.400
C8orf58		psi-mi:“MI:0915”(physical association)	0.000
C8orf58	metG1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): C8orf58 (Two-hybrid), FCN1 (Affinity Capture-MS), C8orf58 (Affinity Capture-RNA)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: Q66JV7, Q8NAV2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1228 predictions. Top by Δscore:

Variant	Effect	Δscore
8:22599758:GGG:G	donor_gain	1.0000
8:22599759:GG:G	donor_gain	1.0000
8:22599759:GGG:G	donor_gain	1.0000
8:22599759:GGGT:G	donor_loss	1.0000
8:22599760:GG:G	donor_gain	1.0000
8:22599760:GGT:G	donor_loss	1.0000
8:22599761:G:GG	donor_gain	1.0000
8:22599761:GTGA:G	donor_loss	1.0000
8:22599762:T:A	donor_loss	1.0000
8:22601848:CAGGG:C	donor_gain	1.0000
8:22601849:AGGG:A	donor_gain	1.0000
8:22601850:GGG:G	donor_gain	1.0000
8:22601850:GGGG:G	donor_gain	1.0000
8:22601851:GG:G	donor_gain	1.0000
8:22601851:GGG:G	donor_gain	1.0000
8:22601852:GG:G	donor_gain	1.0000
8:22601853:GT:G	donor_loss	1.0000
8:22601853:GTGA:G	donor_gain	1.0000
8:22601854:T:A	donor_loss	1.0000
8:22601856:A:AG	donor_gain	1.0000
8:22601857:G:GG	donor_gain	1.0000
8:22601967:CATAG:C	acceptor_loss	1.0000
8:22601969:TAGGA:T	acceptor_loss	1.0000
8:22601970:AGGAT:A	acceptor_loss	1.0000
8:22602168:T:TA	acceptor_gain	1.0000
8:22602535:A:AG	acceptor_gain	1.0000
8:22602535:AGCGG:A	acceptor_gain	1.0000
8:22602536:G:GG	acceptor_gain	1.0000
8:22602536:GCGGG:G	acceptor_gain	1.0000
8:22602552:T:TA	acceptor_gain	1.0000

AlphaMissense

2307 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:22599742:T:C	F8L	0.991
8:22599744:C:A	F8L	0.991
8:22599744:C:G	F8L	0.991
8:22601779:T:C	L195P	0.990
8:22602554:G:C	W299C	0.990
8:22602554:G:T	W299C	0.990
8:22601781:T:C	C196R	0.985
8:22602566:G:C	K303N	0.983
8:22602566:G:T	K303N	0.983
8:22601770:T:C	L192P	0.982
8:22601809:T:C	L205P	0.982
8:22602552:T:A	W299R	0.982
8:22602552:T:C	W299R	0.982
8:22601783:C:G	C196W	0.980
8:22599743:T:G	F8C	0.978
8:22601757:G:C	G188R	0.977
8:22601791:T:C	L199P	0.977
8:22600938:T:G	Y33D	0.974
8:22601773:A:T	E193V	0.971
8:22599743:T:C	F8S	0.970
8:22600938:T:C	Y33H	0.970
8:22601782:G:A	C196Y	0.968
8:22601766:T:C	Y191H	0.967
8:22600932:A:C	S31R	0.965
8:22600934:C:A	S31R	0.965
8:22600934:C:G	S31R	0.965
8:22601766:T:G	Y191D	0.964
8:22600938:T:A	Y33N	0.963
8:22601774:A:C	E193D	0.961
8:22601774:A:T	E193D	0.961

dbSNP variants (sampled 300 via entrez): RS1000000258 (8:22600185 C>A,T), RS1000502330 (8:22599997 C>A,T), RS1001423549 (8:22600611 T>C,G), RS1002575859 (8:22598206 G>A,T), RS1002628381 (8:22598405 G>T), RS1002794901 (8:22601640 C>G,T), RS1003143666 (8:22603884 G>A), RS1003429761 (8:22602935 G>A), RS1003509479 (8:22600049 C>A), RS1004122743 (8:22604532 GC>G), RS1004249350 (8:22599926 CAG>C), RS1004279385 (8:22604169 G>C), RS1004486787 (8:22598735 A>T), RS1004684881 (8:22599761 GT>G), RS1004859694 (8:22598971 G>C)

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
GCST004902_25	Parkinson’s disease	3.000000e-08
GCST006613_134	Triglycerides	2.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	3
sodium arsenite	decreases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Benzo(a)pyrene	decreases expression, increases expression	2
Oxygen	increases expression	2
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
aflatoxin B2	increases methylation	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Catechin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ifosfamide	increases expression	1
Lead	increases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Thimerosal	decreases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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