C8orf90

Summary

C8orf90 (chromosome 8 open reading frame 90, HGNC:56305) is a protein-coding gene on chromosome 8q24.3, encoding Uncharacterized protein C8orf90 (A0A2R8Y2Y2).

At a glance

• MANE Select transcript: NM_001395960

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:56305
Approved symbol	C8orf90
Name	chromosome 8 open reading frame 90
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000226490
Ensembl biotype	protein_coding
Entrez	122455339

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000427937, ENST00000643770

RefSeq mRNA: 1 — MANE Select: NM_001395960 NM_001395960

CCDS: CCDS94348

Canonical transcript exons

ENST00000643770 — 2 exons

Exon	Start	End
ENSE00003978246	141518216	141518729
ENSE00003978247	141514671	141514775

Expression profiles

Bgee: expression breadth broad, 39 present calls, max score 77.53.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	77.53	gold quality
right testis	UBERON:0004534	77.00	gold quality
testis	UBERON:0000473	75.21	gold quality
primary visual cortex	UBERON:0002436	69.02	gold quality
superior frontal gyrus	UBERON:0002661	66.01	gold quality
Brodmann (1909) area 9	UBERON:0013540	61.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	61.72	gold quality
right frontal lobe	UBERON:0002810	57.36	gold quality
anterior cingulate cortex	UBERON:0009835	55.85	gold quality
temporal lobe	UBERON:0001871	55.23	gold quality
amygdala	UBERON:0001876	54.88	gold quality
cerebral cortex	UBERON:0000956	52.59	gold quality
hypothalamus	UBERON:0001898	52.26	gold quality
skin of leg	UBERON:0001511	50.41	gold quality
Ammon’s horn	UBERON:0001954	49.53	gold quality
zone of skin	UBERON:0000014	49.48	gold quality
skin of abdomen	UBERON:0001416	48.82	gold quality
cortical plate	UBERON:0005343	47.07	gold quality
frontal cortex	UBERON:0001870	46.48	gold quality
putamen	UBERON:0001874	44.96	gold quality
caudate nucleus	UBERON:0001873	42.73	gold quality
brain	UBERON:0000955	42.71	gold quality
nucleus accumbens	UBERON:0001882	40.73	gold quality
sural nerve	UBERON:0015488	38.12	gold quality
ganglionic eminence	UBERON:0004023	37.76	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
prefrontal cortex	UBERON:0000451	36.95	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.54	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.13

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm6569	ENSMUSG00000086361
rattus_norvegicus	Gm6569	ENSRNOG00000065138

Protein

Protein identifiers

Uncharacterized protein C8orf90 — A0A2R8Y2Y2 (reviewed: A0A2R8Y2Y2)

All UniProt accessions (2): A0A2R8Y2Y2, A0A1B0GTL3

RefSeq proteins (1): NP_001382889* (*=MANE)

Domains & families (InterPro)

UniProt features (5 total): region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A2R8Y2Y2-F1	56.07	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr8q24

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (1): molecular_function (GO:0003674)

GO Cellular Component (1): cellular_component (GO:0005575)

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRK4, A0A1B0GVZ6, A0A1W2PPE3, A0A1W2PR82, A0A2R8Y2Y2, A0A2Z4LIS9, A0A494C0N9, A0A494C0Y3, A5A752, A5PKC7, A6NDZ8, A6NE82, A6NEL2, A6NJ08, A6NJI1, A6QP24, A6QPM6, A8MTW9, A8MXV6, A8MYA2, B1ARW8, O35182, O43541, O75474, O75638, O89113, O94850, P0C7X2, P24097, P50617, P70339, Q02080, Q2KID8, Q2KIS6, Q3UN58, Q5JPB2, Q63003, Q6NZ36, Q6UYE1, Q6ZSJ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1211 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:141518277:G:C	W47C	0.993
8:141518277:G:T	W47C	0.993
8:141518288:T:C	F51S	0.992
8:141518357:A:T	E74V	0.991
8:141518362:T:C	F76L	0.991
8:141518364:C:A	F76L	0.991
8:141518364:C:G	F76L	0.991
8:141518374:T:C	F80L	0.990
8:141518376:C:A	F80L	0.990
8:141518376:C:G	F80L	0.990
8:141518287:T:C	F51L	0.989
8:141518289:C:A	F51L	0.989
8:141518289:C:G	F51L	0.989
8:141518275:T:A	W47R	0.988
8:141518275:T:C	W47R	0.988
8:141518455:T:C	F107L	0.988
8:141518457:C:A	F107L	0.988
8:141518457:C:G	F107L	0.988
8:141518242:T:C	F36L	0.987
8:141518244:C:A	F36L	0.987
8:141518244:C:G	F36L	0.987
8:141518336:T:C	F67S	0.986
8:141518325:G:C	K63N	0.985
8:141518325:G:T	K63N	0.985
8:141518535:G:C	K133N	0.985
8:141518535:G:T	K133N	0.985
8:141518380:T:C	F82L	0.984
8:141518382:C:A	F82L	0.984
8:141518382:C:G	F82L	0.984
8:141518363:T:C	F76S	0.981

dbSNP variants (sampled 300 via entrez): RS1000005229 (8:141514617 G>A,C,T), RS1000020991 (8:141517041 G>A,C,T), RS1001346354 (8:141518969 G>A), RS1001573641 (8:141517725 A>C), RS1001630316 (8:141519105 T>A,C), RS1001830149 (8:141519163 G>A), RS1001900275 (8:141518961 C>G,T), RS1001916998 (8:141515102 C>G), RS1001940676 (8:141517923 C>T), RS1001978432 (8:141514098 C>G), RS1002248565 (8:141515461 C>T), RS1002735217 (8:141515201 C>A,T), RS1004378322 (8:141516434 T>C), RS1004748233 (8:141517424 G>A), RS1006388456 (8:141518875 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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