C8orf88

Summary

C8orf88 (chromosome 8 open reading frame 88, HGNC:44672) is a protein-coding gene on chromosome 8q21.3, encoding Uncharacterized protein C8orf88 (P0DMB2).

Predicted to enable eukaryotic initiation factor 4E binding activity. Predicted to be involved in negative regulation of translational initiation. Predicted to be active in cytoplasm.

Source: NCBI Gene 100127983 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total — 1 pathogenic
• MANE Select transcript: NM_001190972

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44672
Approved symbol	C8orf88
Name	chromosome 8 open reading frame 88
Location	8q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000253250
Ensembl biotype	protein_coding
Entrez	100127983

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000517562, ENST00000890510, ENST00000917309, ENST00000917310

RefSeq mRNA: 2 — MANE Select: NM_001190972 NM_001190972, NM_001363275

CCDS: CCDS59105

Canonical transcript exons

ENST00000517562 — 6 exons

Exon	Start	End
ENSE00002091394	90978579	90978652
ENSE00002092881	90960742	90960848
ENSE00002094130	90980363	90980461
ENSE00002095993	90971066	90971141
ENSE00002124019	90985114	90985238
ENSE00002125560	90958471	90959030

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 97.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1048 / max 203.8904, expressed in 1419 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93902	11.9745	1412
93903	0.1132	33
93904	0.0172	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cauda epididymis	UBERON:0004360	97.02	gold quality
left testis	UBERON:0004533	96.70	gold quality
right testis	UBERON:0004534	96.61	gold quality
pigmented layer of retina	UBERON:0001782	95.72	gold quality
testis	UBERON:0000473	95.49	gold quality
corpus epididymis	UBERON:0004359	92.92	gold quality
smooth muscle tissue	UBERON:0001135	92.28	gold quality
right atrium auricular region	UBERON:0006631	92.25	gold quality
cardiac atrium	UBERON:0002081	92.22	gold quality
myocardium	UBERON:0002349	91.79	gold quality
heart left ventricle	UBERON:0002084	91.31	gold quality
cardiac ventricle	UBERON:0002082	91.24	gold quality
heart	UBERON:0000948	91.15	gold quality
caput epididymis	UBERON:0004358	91.10	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.08	gold quality
trabecular bone tissue	UBERON:0002483	91.07	gold quality
heart right ventricle	UBERON:0002080	90.69	gold quality
calcaneal tendon	UBERON:0003701	90.13	gold quality
saphenous vein	UBERON:0007318	90.04	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.91	gold quality
popliteal artery	UBERON:0002250	89.90	gold quality
tibial artery	UBERON:0007610	89.88	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.84	gold quality
left ventricle myocardium	UBERON:0006566	89.65	gold quality
germinal epithelium of ovary	UBERON:0001304	89.61	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.46	gold quality
lower esophagus	UBERON:0013473	89.42	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.24	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.02	gold quality
parietal pleura	UBERON:0002400	88.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	30.57
E-ANND-3	yes	5.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting C8orf88, 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-126-5P	100.00	72.71	3180
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-7705	98.69	67.47	543
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-219B-5P	97.91	65.80	531
HSA-MIR-5189-3P	97.52	66.33	487
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-5187-3P	97.28	67.10	1037
HSA-MIR-3137	97.26	66.78	761

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm11837	ENSMUSG00000086587
rattus_norvegicus	C5h8orf88	ENSRNOG00000007256

Protein

Protein identifiers

Uncharacterized protein C8orf88 — P0DMB2 (reviewed: P0DMB2)

All UniProt accessions (1): P0DMB2

RefSeq proteins (2): NP_001177901, NP_001350204 (=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DMB2-F1	68.75	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): GOZGIT_ESR1_TARGETS_DN, GOBP_TRANSLATIONAL_INITIATION, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, GOBP_NEGATIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, SUZUKI_RESPONSE_TO_TSA, SENESE_HDAC3_TARGETS_DN, GOBP_REGULATION_OF_TRANSLATION, GOBP_REGULATION_OF_TRANSLATIONAL_INITIATION, THUM_SYSTOLIC_HEART_FAILURE_DN

GO Biological Process (1): negative regulation of translational initiation (GO:0045947)

GO Molecular Function (2): eukaryotic initiation factor 4E binding (GO:0008190), translation repressor activity (GO:0030371)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of translation	2
translational initiation	1
regulation of translational initiation	1
translation initiation factor binding	1
translation regulator activity	1

Protein interactions and networks

STRING

154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C8orf88	PDAP1	Q13442	468
C8orf88	MRPL30	Q8TCC3	398
C8orf88	AKAP19	P0C876	369
C8orf88	PDIA5	Q14554	367
C8orf88	RSL1D1	O76021	365
C8orf88	SLC25A26	Q70HW3	349
C8orf88	DTYMK	P23919	346
C8orf88	FAXDC2	Q96IV6	321
C8orf88	MAMDC2	Q7Z304	306
C8orf88	ZNF586	Q9NXT0	299
C8orf88	DND1	Q8IYX4	299
C8orf88	VRK1	Q99986	281
C8orf88	PHLDB2	Q86SQ0	270
C8orf88	TAOK2	Q9UL54	262
C8orf88	LMCD1	Q9NZU5	255

IntAct

2 interactions, top by confidence:

A	B	Type	Score
EIF4E	EIF4G3	psi-mi:“MI:0914”(association)	0.810

BioGRID (3): SND1 (Cross-Linking-MS (XL-MS)), C8orf88 (Proximity Label-MS), C8orf88 (Proximity Label-MS)

ESM2 similar proteins: A7TUE1, A8MQL1, A9XMT4, A9XMT5, B2RRE7, C0SVG5, F4I700, F4KGY6, P0DMB2, Q01804, Q05A80, Q0P5K1, Q0VCW6, Q14966, Q28FE5, Q32KY7, Q3KR53, Q497N7, Q4FZF2, Q4R731, Q58CR1, Q5CCK4, Q5R4E9, Q5R9C3, Q5R9L2, Q5XH28, Q5ZHQ6, Q5ZIX8, Q5ZMB7, Q66KH8, Q69ZR9, Q6AXY2, Q6AYU0, Q6DD19, Q6NXH3, Q6NZP2, Q6P444, Q6PAV5, Q7XM16, Q86WP2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	Pathogenic

SpliceAI

1060 predictions. Top by Δscore:

Variant	Effect	Δscore
8:90960738:TTA:T	donor_loss	1.0000
8:90960739:TA:T	donor_loss	1.0000
8:90960740:A:AC	donor_gain	1.0000
8:90960741:C:CT	donor_gain	1.0000
8:90960741:C:G	donor_loss	1.0000
8:90960741:CT:C	donor_gain	1.0000
8:90960741:CTG:C	donor_gain	1.0000
8:90960741:CTGG:C	donor_gain	1.0000
8:90960741:CTGGT:C	donor_gain	1.0000
8:90960849:C:CC	acceptor_gain	1.0000
8:90962218:CAAG:C	acceptor_gain	1.0000
8:90962221:G:GC	acceptor_gain	1.0000
8:90971060:TTTTA:T	donor_loss	1.0000
8:90971061:TTTAC:T	donor_loss	1.0000
8:90971062:TTAC:T	donor_loss	1.0000
8:90971063:TAC:T	donor_loss	1.0000
8:90971064:A:AT	donor_loss	1.0000
8:90971065:CCTTT:C	donor_gain	1.0000
8:90971137:TTACA:T	acceptor_gain	1.0000
8:90971140:CA:C	acceptor_gain	1.0000
8:90971142:C:CC	acceptor_gain	1.0000
8:90978578:CT:C	donor_gain	1.0000
8:90980359:TCAC:T	donor_loss	1.0000
8:90980361:A:AC	donor_gain	1.0000
8:90980361:AC:A	donor_gain	1.0000
8:90980362:C:A	donor_loss	1.0000
8:90980362:C:CA	donor_gain	1.0000
8:90980362:CC:C	donor_gain	1.0000
8:90980362:CCT:C	donor_gain	1.0000
8:90980362:CCTG:C	donor_gain	1.0000

AlphaMissense

776 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:90960821:A:G	L84P	0.998
8:90960821:A:T	L84Q	0.998
8:90960837:A:G	Y79H	0.998
8:90960773:A:G	L100P	0.997
8:90960775:A:C	F99L	0.997
8:90960775:A:T	F99L	0.997
8:90960777:A:G	F99L	0.997
8:90960812:A:G	L87P	0.997
8:90960836:T:G	Y79S	0.997
8:90960837:A:C	Y79D	0.997
8:90960773:A:T	L100Q	0.996
8:90960782:G:T	P97Q	0.996
8:90960821:A:C	L84R	0.996
8:90960836:T:C	Y79C	0.996
8:90960783:G:A	P97S	0.995
8:90960824:A:G	F83S	0.995
8:90960829:T:A	R81S	0.994
8:90960829:T:G	R81S	0.994
8:90960842:A:C	I77S	0.994
8:90960773:A:C	L100R	0.993
8:90960830:C:A	R81I	0.993
8:90960833:C:A	S80I	0.993
8:90960837:A:T	Y79N	0.993
8:90960842:A:G	I77T	0.993
8:90960830:C:G	R81T	0.992
8:90960832:G:C	S80R	0.991
8:90960832:G:T	S80R	0.991
8:90960834:T:G	S80R	0.991
8:90960844:T:A	R76S	0.991
8:90960844:T:G	R76S	0.991

dbSNP variants (sampled 300 via entrez): RS1000022009 (8:90984922 C>T), RS1000331627 (8:90984148 A>C,T), RS1000350792 (8:90972564 A>T), RS1000695761 (8:90974009 C>T), RS1000726474 (8:90973753 G>C), RS1000805018 (8:90970561 A>C), RS1000806096 (8:90986090 A>G), RS1000868920 (8:90984511 T>C), RS1000995108 (8:90960305 T>C), RS1001071797 (8:90985841 C>G), RS1001072340 (8:90971441 C>T), RS1001267068 (8:90972798 T>C), RS1001371236 (8:90966295 C>A,T), RS1001506868 (8:90966808 T>C), RS1001532977 (8:90971420 T>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Particulate Matter	decreases expression, decreases reaction, increases abundance, affects cotreatment	3
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
trichostatin A	increases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
avobenzone	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Vehicle Emissions	decreases expression, decreases reaction	1
Cisplatin	decreases expression, affects cotreatment	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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