C22orf23

Summary

C22orf23 (chromosome 22 open reading frame 23, HGNC:18589) is a protein-coding gene on chromosome 22q13.1, encoding UPF0193 protein EVG1 (Q9BZE7).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_032561

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18589
Approved symbol	C22orf23
Name	chromosome 22 open reading frame 23
Location	22q13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32787, EVG1, LOC84645
Ensembl gene	ENSG00000128346
Ensembl biotype	protein_coding
OMIM	619678
Entrez	84645

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 15 protein_coding

ENST00000249079, ENST00000403026, ENST00000403305, ENST00000418863, ENST00000422191, ENST00000619227, ENST00000856379, ENST00000856380, ENST00000856381, ENST00000856382, ENST00000856383, ENST00000856384, ENST00000856385, ENST00000955708, ENST00000955709

RefSeq mRNA: 2 — MANE Select: NM_032561 NM_001207062, NM_032561

CCDS: CCDS13962, CCDS74860

Canonical transcript exons

ENST00000403305 — 7 exons

Exon	Start	End
ENSE00000880240	37944417	37944517
ENSE00000880241	37945042	37945173
ENSE00000880242	37947281	37947463
ENSE00000880243	37951460	37951522
ENSE00000880244	37953047	37953158
ENSE00001561092	37953448	37953601
ENSE00003726024	37943050	37944246

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 96.09.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5545 / max 738.8772, expressed in 431 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194099	1.5545	431

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.09	gold quality
sperm	CL:0000019	96.04	gold quality
right testis	UBERON:0004534	95.39	gold quality
testis	UBERON:0000473	93.23	gold quality
adult organism	UBERON:0007023	89.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.37	gold quality
right uterine tube	UBERON:0001302	87.62	gold quality
smooth muscle tissue	UBERON:0001135	87.20	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.68	gold quality
body of stomach	UBERON:0001161	86.32	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.33	gold quality
bronchial epithelial cell	CL:0002328	83.57	gold quality
lower esophagus	UBERON:0013473	82.48	gold quality
lower esophagus muscularis layer	UBERON:0035833	82.43	gold quality
stomach	UBERON:0000945	82.20	gold quality
bronchus	UBERON:0002185	81.85	gold quality
cortical plate	UBERON:0005343	81.66	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.44	gold quality
spinal cord	UBERON:0002240	81.02	gold quality
body of uterus	UBERON:0009853	80.81	gold quality
skin of leg	UBERON:0001511	80.06	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	80.00	gold quality
left uterine tube	UBERON:0001303	79.78	gold quality
esophagus	UBERON:0001043	79.52	gold quality
skin of abdomen	UBERON:0001416	79.04	gold quality
lower esophagus mucosa	UBERON:0035834	78.59	gold quality
ectocervix	UBERON:0012249	78.50	gold quality
stromal cell of endometrium	CL:0002255	78.32	gold quality
fundus of stomach	UBERON:0001160	78.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting C22orf23, 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-570-3P	99.96	72.41	4910
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-7114-3P	98.42	66.53	569
HSA-MIR-4289	98.26	66.90	810
HSA-MIR-1180-5P	98.16	65.32	460
HSA-MIR-6769A-5P	97.99	64.16	851
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-3187-3P	97.38	65.80	904
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-4727-3P	96.75	64.97	415
HSA-MIR-2276-5P	96.27	65.85	937
HSA-MIR-4435	95.90	65.47	1201

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-43k4.3	ENSDARG00000052428
mus_musculus	1700088E04Rik	ENSMUSG00000033029
rattus_norvegicus	C7h22orf23	ENSRNOG00000011170
drosophila_melanogaster	CG5280	FBGN0035952

Protein

Protein identifiers

UPF0193 protein EVG1 — Q9BZE7 (reviewed: Q9BZE7)

All UniProt accessions (4): Q9BZE7, A0A087X0J6, B0QYM1, B0QYM2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0193 (EVG1) family.

RefSeq proteins (2): NP_001193991, NP_115950* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007914	UPF0193	Family

Pfam: PF05250

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZE7-F1	80.78	0.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, chr22q13, SCGGAAGY_ELK1_02, DODD_NASOPHARYNGEAL_CARCINOMA_DN, CHENG_IMPRINTED_BY_ESTRADIOL, MODULE_49, BRUINS_UVC_RESPONSE_LATE, ELF2_TARGET_GENES, RFX7_TARGET_GENES, TEAD2_TARGET_GENES, MIR570_3P, MIR4307, MIR2467_3P, MIR3140_5P, MIR4435

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C22orf23	TSACC	Q96A04	661
C22orf23	CCDC54	Q8NEL0	592
C22orf23	GARIN1B	Q96KD3	571
C22orf23	ODAD4	Q96NG3	570
C22orf23	CATSPERT	Q53TS8	540
C22orf23	GKAP1	Q5VSY0	507
C22orf23	ACTRT2	Q8TDY3	507
C22orf23	CXorf65	A6NEN9	479
C22orf23	CCDC187	A0A096LP49	478
C22orf23	C20orf173	Q96LM9	478
C22orf23	CAPZA3	Q96KX2	476
C22orf23	TMCO2	Q7Z6W1	475
C22orf23	RIMBP3	Q9UFD9	471
C22orf23	ZC3H11D	Q8NA57	447
C22orf23	FAM209A	Q5JX71	447

IntAct

16 interactions, top by confidence:

A	B	Type	Score
CCNDBP1	C22orf23	psi-mi:“MI:0915”(physical association)	0.670
C22orf23	CCNDBP1	psi-mi:“MI:0915”(physical association)	0.670
C22orf23	VPS28	psi-mi:“MI:0915”(physical association)	0.590
C1orf74	C22orf23	psi-mi:“MI:0915”(physical association)	0.560
ESRRG	C22orf23	psi-mi:“MI:0915”(physical association)	0.560
C22orf23		psi-mi:“MI:0915”(physical association)	0.370
C22orf23	BTBD1	psi-mi:“MI:0914”(association)	0.350
C1orf74	C22orf23	psi-mi:“MI:0915”(physical association)	0.000
ESRRG	C22orf23	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): C22orf23 (Two-hybrid), VPS28 (Affinity Capture-MS), VPS28 (Affinity Capture-MS), C1orf74 (Two-hybrid), ESRRG (Two-hybrid), VPS28 (Affinity Capture-MS), CPVL (Affinity Capture-MS), RBM12 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), VIM (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GU71, A6QPI4, B2RV13, D4A6L0, E1BBQ2, F1LQY6, G3UW36, O08856, P15382, P53801, P55199, P56182, Q08CB3, Q0VF94, Q148E1, Q17RQ9, Q2KJ58, Q32Q90, Q4R5F9, Q4V8A6, Q4VA36, Q5I0I4, Q5NVI6, Q5R8Q2, Q5T6X4, Q5T848, Q5XII8, Q68EN5, Q6P767, Q8C419, Q8CHT6, Q8R143, Q8R1T1, Q8TBN0, Q8VDV3, Q8WUX9, Q90YH8, Q91WM6, Q91ZP9, Q96IL0

Diamond homologs: Q9BZE7, Q9D9S1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1363 predictions. Top by Δscore:

Variant	Effect	Δscore
22:37944411:TCCTA:T	donor_loss	1.0000
22:37944412:CCTAC:C	donor_loss	1.0000
22:37944413:CTA:C	donor_loss	1.0000
22:37944414:TACCT:T	donor_loss	1.0000
22:37944415:ACC:A	donor_loss	1.0000
22:37944513:CACCA:C	acceptor_gain	1.0000
22:37944515:CCA:C	acceptor_gain	1.0000
22:37944516:C:CT	acceptor_gain	1.0000
22:37944516:CA:C	acceptor_gain	1.0000
22:37944517:AC:A	acceptor_loss	1.0000
22:37944518:C:CC	acceptor_gain	1.0000
22:37944518:C:T	acceptor_loss	1.0000
22:37944519:T:G	acceptor_loss	1.0000
22:37945038:TTAC:T	donor_loss	1.0000
22:37945039:T:TG	donor_loss	1.0000
22:37945040:A:AC	donor_gain	1.0000
22:37945040:A:AT	donor_loss	1.0000
22:37945040:ACG:A	donor_gain	1.0000
22:37945040:ACGCT:A	donor_gain	1.0000
22:37945041:C:CC	donor_gain	1.0000
22:37945041:C:CT	donor_loss	1.0000
22:37945041:CG:C	donor_gain	1.0000
22:37945041:CGC:C	donor_gain	1.0000
22:37945041:CGCT:C	donor_gain	1.0000
22:37945041:CGCTC:C	donor_gain	1.0000
22:37945169:ATCCC:A	acceptor_gain	1.0000
22:37945170:TCCC:T	acceptor_gain	1.0000
22:37945171:CCC:C	acceptor_gain	1.0000
22:37945171:CCCC:C	acceptor_gain	1.0000
22:37945172:CC:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000200815 (22:37945452 C>T), RS1000325209 (22:37948461 A>G), RS1000804798 (22:37947573 C>T), RS1000979069 (22:37943561 G>A), RS1001032659 (22:37943915 C>G), RS1001358582 (22:37949787 C>T), RS1001625682 (22:37946612 G>A,C,T), RS1001912035 (22:37954547 C>T), RS1001914878 (22:37948150 T>C), RS1002259884 (22:37954800 C>T), RS1003031294 (22:37949900 A>G), RS1003083638 (22:37949748 C>A,T), RS1003556247 (22:37942656 G>A), RS1003872821 (22:37945936 A>G,T), RS1003903577 (22:37945638 G>A)

Disease associations

OMIM: gene MIM:619678 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007327_30	Smoking status (ever vs never smokers)	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
di-n-butylphosphoric acid	affects expression	1
nutlin 3	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Smoke	increases abundance, increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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