C2orf92

Summary

C2orf92 (chromosome 2 open reading frame 92, HGNC:49272) is a protein-coding gene on chromosome 2q11.2, encoding Uncharacterized protein C2orf92 (A0A1B0GVN3).

Predicted to be located in membrane.

Source: NCBI Gene 728537 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001351368

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49272
Approved symbol	C2orf92
Name	chromosome 2 open reading frame 92
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000228486
Ensembl biotype	protein_coding
Entrez	728537

Gene structure

Transcript identifiers

Ensembl transcripts: 58 — 34 protein_coding_CDS_not_defined, 12 nonsense_mediated_decay, 6 retained_intron, 6 protein_coding

ENST00000428157, ENST00000445382, ENST00000450072, ENST00000451384, ENST00000458149, ENST00000594273, ENST00000595492, ENST00000595588, ENST00000596069, ENST00000596356, ENST00000596529, ENST00000596740, ENST00000597654, ENST00000597941, ENST00000598144, ENST00000598737, ENST00000598824, ENST00000599015, ENST00000599435, ENST00000599501, ENST00000599666, ENST00000599959, ENST00000600331, ENST00000600606, ENST00000601127, ENST00000601499, ENST00000601509, ENST00000601580, ENST00000603172, ENST00000603835, ENST00000604793, ENST00000604986, ENST00000605017, ENST00000605282, ENST00000605331, ENST00000605866, ENST00000608777, ENST00000609004, ENST00000609295, ENST00000609418, ENST00000609604, ENST00000609622, ENST00000609703, ENST00000615201, ENST00000615478, ENST00000627012, ENST00000627137, ENST00000627284, ENST00000627399, ENST00000628093, ENST00000628434, ENST00000628992, ENST00000629840, ENST00000629956, ENST00000630068, ENST00000630892, ENST00000631206, ENST00000631224

RefSeq mRNA: 2 — MANE Select: NM_001351368 NM_001351368, NM_001410919

CCDS: CCDS86862, CCDS92816

Canonical transcript exons

ENST00000627399 — 8 exons

Exon	Start	End
ENSE00003793290	97675845	97675928
ENSE00003794078	97699026	97699136
ENSE00003796519	97690256	97690327
ENSE00003798309	97701154	97701304
ENSE00003800198	97688895	97688993
ENSE00003801052	97674456	97674557
ENSE00003927701	97702669	97703066
ENSE00003929384	97669713	97669834

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 94.29.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4021 / max 55.2226, expressed in 614 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21512	0.9956	476
21513	0.3739	203
21514	0.0235	3
21515	0.0091	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.29	gold quality
left lobe of thyroid gland	UBERON:0001120	93.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.74	gold quality
right lobe of thyroid gland	UBERON:0001119	92.68	gold quality
left testis	UBERON:0004533	92.48	gold quality
right testis	UBERON:0004534	92.35	gold quality
body of pancreas	UBERON:0001150	92.17	gold quality
cerebellar hemisphere	UBERON:0002245	92.17	gold quality
cerebellar cortex	UBERON:0002129	91.88	gold quality
thyroid gland	UBERON:0002046	91.42	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.68	gold quality
adenohypophysis	UBERON:0002196	89.51	gold quality
right lung	UBERON:0002167	89.08	gold quality
testis	UBERON:0000473	89.03	gold quality
metanephros cortex	UBERON:0010533	88.95	gold quality
cerebellum	UBERON:0002037	88.92	gold quality
minor salivary gland	UBERON:0001830	88.16	gold quality
right lobe of liver	UBERON:0001114	88.15	gold quality
tibial nerve	UBERON:0001323	87.86	gold quality
right frontal lobe	UBERON:0002810	87.85	gold quality
skin of abdomen	UBERON:0001416	87.60	gold quality
apex of heart	UBERON:0002098	87.56	gold quality
endocervix	UBERON:0000458	87.55	gold quality
mucosa of stomach	UBERON:0001199	86.98	gold quality
skin of leg	UBERON:0001511	86.89	gold quality
Brodmann (1909) area 9	UBERON:0013540	86.84	gold quality
spleen	UBERON:0002106	86.68	gold quality
upper lobe of left lung	UBERON:0008952	86.43	gold quality
ectocervix	UBERON:0012249	86.32	gold quality
spinal cord	UBERON:0002240	86.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.59

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Discovery of a novel linc01125 isoform in serum exosomes as a promising biomarker for NSCLC diagnosis and survival assessment. (PMID:33928340)
• m6A Writer METTL3-Mediated lncRNA LINC01125 Prevents the Malignancy of Papillary Thyroid Cancer. (PMID:37824376)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4933424G06Rik	ENSMUSG00000102416
rattus_norvegicus	C9h2orf92	ENSRNOG00000052570

Protein

Protein identifiers

Uncharacterized protein C2orf92 — A0A1B0GVN3 (reviewed: A0A1B0GVN3)

Alternative names: Long intergenic non-protein coding RNA 1125

All UniProt accessions (15): A0A1B0GTH1, A0A1B0GTX5, A0A1B0GUD5, A0A1B0GUG7, A0A1B0GUK5, A0A1B0GV62, A0A1B0GVE2, A0A1B0GVN3, A0A1B0GVP0, A0A1B0GVT1, A0A1B0GW71, A0A1B0GW88, A0A1B0GWB7, A0A1B0GWI3, A0A1B0GWK3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001338297, NP_001397848 (=MANE)

Domains & families (InterPro)

UniProt features (3 total): signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVN3-F1	54.22	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, chr2q11, ARID5B_TARGET_GENES, CIITA_TARGET_GENES, EBNA1BP2_TARGET_GENES, FOXN3_TARGET_GENES, HAND1_TARGET_GENES, PAX3_TARGET_GENES, RBM34_TARGET_GENES, SRSF9_TARGET_GENES, SUPT16H_TARGET_GENES, UBN1_TARGET_GENES, ZFP91_TARGET_GENES, ZNF274_TARGET_GENES, ZNF362_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

10 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C2orf92	C10orf120	Q5SQS8	815
C2orf92	PPP1R36	Q96LQ0	720
C2orf92	PPP3CC	P48454	480
C2orf92	MEST	Q5EB52	222
C2orf92	DDX4	Q9NQI0	219

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVN3, A0A482APM8, A1KXM5, A4H257, A4H258, A4H259, A4H260, A6H7F9, A6NFE2, A6NHS7, A7KBS4, E9Q7F5, O74981, O75969, P09258, P09558, P19442, P22575, P80195, P88825, Q00997, Q04547, Q05100, Q2LCV6, Q2M2T8, Q30KK0, Q5NRP9, Q5QR91, Q5RAW4, Q5RBQ2, Q5RII3, Q6AXV6, Q6AXY9, Q6UW49, Q77NN4, Q7Z9I5, Q80YD3, Q810S2, Q8N4C9, Q95LJ2

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

1756 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:97702700:T:C	F233L	0.956
2:97702702:T:A	F233L	0.956
2:97702702:T:G	F233L	0.956
2:97701199:T:C	L187P	0.925
2:97701195:T:C	F186L	0.921
2:97701197:C:A	F186L	0.921
2:97701197:C:G	F186L	0.921
2:97688901:T:C	I80T	0.915
2:97688901:T:G	I80S	0.904
2:97702726:G:C	W241C	0.872
2:97702726:G:T	W241C	0.872
2:97675880:T:C	F62L	0.863
2:97675882:T:A	F62L	0.863
2:97675882:T:G	F62L	0.863
2:97675925:T:C	F77L	0.863
2:97675927:T:A	F77L	0.863
2:97675927:T:G	F77L	0.863
2:97674476:T:C	F23L	0.861
2:97674478:T:A	F23L	0.861
2:97674478:T:G	F23L	0.861
2:97701187:T:C	L183P	0.860
2:97701220:C:A	A194D	0.857
2:97702701:T:C	F233S	0.855
2:97702724:T:A	W241R	0.851
2:97702724:T:C	W241R	0.851
2:97688904:T:C	L81P	0.830
2:97688895:A:T	D78V	0.820
2:97701231:G:A	G198R	0.817
2:97701231:G:C	G198R	0.817
2:97669834:G:C	D16H	0.801

dbSNP variants (sampled 300 via entrez): RS1000071420 (2:97700310 TAC>T), RS1000133220 (2:97698707 A>G), RS1000201297 (2:97671963 C>T), RS1000311706 (2:97679845 AAAAAAAAAG>A), RS1000323352 (2:97679937 G>A,C), RS1000356311 (2:97692398 G>A,C,T), RS1000378252 (2:97687085 C>T), RS1000440380 (2:97686680 A>C), RS1000490502 (2:97668835 G>C), RS1000544961 (2:97681262 T>C), RS1000597155 (2:97681818 A>G), RS1000662484 (2:97680106 C>G), RS1000773208 (2:97687934 C>T), RS1001053876 (2:97674105 C>G,T), RS1001081494 (2:97694579 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

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
Nickel	decreases expression	2
Valproic Acid	affects cotreatment, decreases expression	2
bufotalin	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
fipronil	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
DEET	affects cotreatment, decreases expression	1
Methotrexate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Gold Compounds	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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