C22orf15

Summary

C22orf15 (chromosome 22 open reading frame 15, HGNC:15558) is a protein-coding gene on chromosome 22q11.23, encoding Uncharacterized protein C22orf15 (Q8WYQ4).

At a glance

• Clinical variants (ClinVar): 15 total — 1 pathogenic
• MANE Select transcript: NM_182520

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15558
Approved symbol	C22orf15
Name	chromosome 22 open reading frame 15
Location	22q11.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36561, N27C7-3
Ensembl gene	ENSG00000169314
Ensembl biotype	protein_coding
Entrez	150248

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 retained_intron

ENST00000305199, ENST00000382821, ENST00000402217, ENST00000477921, ENST00000498542, ENST00000877953, ENST00000877954, ENST00000933350, ENST00000933351, ENST00000933352, ENST00000933353, ENST00000933354, ENST00000956167

RefSeq mRNA: 5 — MANE Select: NM_182520 NM_001331041, NM_001376903, NM_001376904, NM_001376905, NM_182520

CCDS: CCDS13814, CCDS82698, CCDS93130

Canonical transcript exons

ENST00000402217 — 6 exons

Exon	Start	End
ENSE00001153579	23764260	23764397
ENSE00001843329	23762990	23763331
ENSE00003498479	23765721	23765863
ENSE00003517106	23764639	23764713
ENSE00003606373	23764793	23764902
ENSE00003670968	23764087	23764173

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 93.44.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	93.44	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.67	gold quality
fallopian tube	UBERON:0003889	77.60	gold quality
right testis	UBERON:0004534	68.80	gold quality
right lung	UBERON:0002167	68.35	gold quality
ventricular zone	UBERON:0003053	67.73	gold quality
left testis	UBERON:0004533	67.67	gold quality
testis	UBERON:0000473	67.63	gold quality
pituitary gland	UBERON:0000007	66.06	gold quality
adenohypophysis	UBERON:0002196	63.07	gold quality
left uterine tube	UBERON:0001303	62.54	gold quality
granulocyte	CL:0000094	60.59	gold quality
lung	UBERON:0002048	59.73	gold quality
vermiform appendix	UBERON:0001154	58.32	gold quality
lymph node	UBERON:0000029	58.31	gold quality
left ovary	UBERON:0002119	57.71	gold quality
ovary	UBERON:0000992	57.29	gold quality
upper lobe of left lung	UBERON:0008952	56.82	gold quality
bone marrow	UBERON:0002371	56.12	gold quality
endocervix	UBERON:0000458	55.97	gold quality
myometrium	UBERON:0001296	55.95	gold quality
skeletal muscle tissue	UBERON:0001134	55.26	silver quality
placenta	UBERON:0001987	55.22	gold quality
muscle tissue	UBERON:0002385	55.15	gold quality
gall bladder	UBERON:0002110	54.95	gold quality
gastrocnemius	UBERON:0001388	54.85	gold quality
liver	UBERON:0002107	54.84	gold quality
hypothalamus	UBERON:0001898	54.62	gold quality
blood	UBERON:0000178	54.45	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting C22orf15, 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-8075	99.97	67.20	962
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-6742-5P	96.32	64.01	869
HSA-MIR-6735-3P	96.10	63.81	600

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm867	ENSMUSG00000050157
rattus_norvegicus	C20h22orf15	ENSRNOG00000028386

Protein

Protein identifiers

Uncharacterized protein C22orf15 — Q8WYQ4 (reviewed: Q8WYQ4)

Alternative names: Protein N27C7-3

All UniProt accessions (2): Q8WYQ4, F8W7S3

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WYQ4-1	1	yes
Q8WYQ4-2	2

RefSeq proteins (5): NP_001317970, NP_001363832, NP_001363833, NP_001363834, NP_872326* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039471	CXorf65-like	Family

Pfam: PF15874

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WYQ4-F1	76.10	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): RYTTCCTG_ETS2_B, ETS_Q4, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, DELACROIX_RAR_BOUND_ES, DACH1_TARGET_GENES, ZNF513_TARGET_GENES, ZNF528_TARGET_GENES, GSE13485_CTRL_VS_DAY1_YF17D_VACCINE_PBMC_DN, RTAAACA_FREAC2_01, MANNO_MIDBRAIN_NEUROTYPES_HRGL2C, MANNO_MIDBRAIN_NEUROTYPES_HPROGFPL, MANNO_MIDBRAIN_NEUROTYPES_HPROGFPM, ETS2_B, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS

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

128 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C22orf15	LRRC75B	Q2VPJ9	718
C22orf15	DRICH1	Q6PGQ1	602
C22orf15	GUCD1	Q96NT3	577
C22orf15	ZNF70	Q9UC06	527
C22orf15	GSTT4	A0A1W2PR19	512
C22orf15	DDTL	A6NHG4	507
C22orf15	RGL4	Q8IZJ4	479
C22orf15	ZNF74	Q16587	445
C22orf15	SGSM1	Q2NKQ1	434
C22orf15	SPECC1L	Q69YQ0	403
C22orf15	DGCR2	P98153	401
C22orf15	UPB1	Q9UBR1	395
C22orf15	H7C1H1	H7C1H1	393
C22orf15	SLC2A11	Q9BYW1	392
C22orf15	VPREB3	Q9UKI3	370

IntAct

2 interactions, top by confidence:

A	B	Type	Score
C22orf15	GATB	psi-mi:“MI:0914”(association)	0.350

BioGRID (22): C22orf15 (Two-hybrid), C22orf15 (Two-hybrid), C22orf15 (Two-hybrid), C22orf15 (Two-hybrid), C22orf15 (Two-hybrid), C22orf15 (Two-hybrid), BANP (Two-hybrid), HSPA6 (Two-hybrid), HSPB7 (Two-hybrid), CCDC125 (Two-hybrid), KCTD21 (Two-hybrid), GOLGA6L9 (Two-hybrid), NPAT (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), LIMK1 (Affinity Capture-MS)

ESM2 similar proteins: A5A6J5, A6QLZ5, O08838, O75618, O77768, O95684, O95983, P07910, P49418, P63042, P63043, Q08DJ0, Q15014, Q2YDD1, Q32KN2, Q32PC9, Q4R578, Q4R7V3, Q4R930, Q4V7C1, Q4V8C5, Q5E948, Q5R467, Q5R724, Q5R905, Q5R9K8, Q5RA82, Q5RD48, Q5REE1, Q5RJZ6, Q5UAK0, Q66HC7, Q66JX5, Q6QI89, Q7TT00, Q86SE5, Q8BR63, Q8BTF8, Q8N108, Q8N128

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	8
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
442258	GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1	Pathogenic

SpliceAI

1122 predictions. Top by Δscore:

Variant	Effect	Δscore
22:23764170:GATG:G	donor_gain	1.0000
22:23764254:TCCCA:T	acceptor_loss	1.0000
22:23764256:CCA:C	acceptor_loss	1.0000
22:23764257:CAG:C	acceptor_loss	1.0000
22:23764258:A:AG	acceptor_gain	1.0000
22:23764258:A:C	acceptor_loss	1.0000
22:23764258:AGC:A	acceptor_gain	1.0000
22:23764259:G:GA	acceptor_gain	1.0000
22:23764259:GCG:G	acceptor_gain	1.0000
22:23764259:GCGA:G	acceptor_gain	1.0000
22:23764398:G:GG	donor_gain	1.0000
22:23764630:A:AG	acceptor_gain	1.0000
22:23764630:AT:A	acceptor_gain	1.0000
22:23764631:T:G	acceptor_gain	1.0000
22:23763305:C:G	donor_gain	0.9900
22:23763328:GGGG:G	donor_gain	0.9900
22:23763329:GGGG:G	donor_gain	0.9900
22:23764085:A:AG	acceptor_gain	0.9900
22:23764086:G:GG	acceptor_gain	0.9900
22:23764086:GCT:G	acceptor_gain	0.9900
22:23764173:GGTGA:G	donor_loss	0.9900
22:23764174:G:C	donor_loss	0.9900
22:23764175:T:A	donor_loss	0.9900
22:23764186:G:GT	donor_gain	0.9900
22:23764259:GC:G	acceptor_gain	0.9900
22:23764259:GCGAC:G	acceptor_gain	0.9900
22:23764260:C:CA	acceptor_gain	0.9900
22:23764275:T:TA	acceptor_gain	0.9900
22:23764319:G:GT	donor_gain	0.9900
22:23764364:G:GT	donor_gain	0.9900

AlphaMissense

944 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:23763310:T:C	F2L	0.989
22:23763312:T:A	F2L	0.989
22:23763312:T:G	F2L	0.989
22:23764272:T:A	L42H	0.985
22:23764380:T:A	V78D	0.981
22:23764144:T:C	L28P	0.977
22:23764287:G:T	G47V	0.971
22:23764386:T:A	V80D	0.971
22:23764132:T:C	L24P	0.969
22:23763325:T:C	F7L	0.968
22:23763327:T:A	F7L	0.968
22:23763327:T:G	F7L	0.968
22:23764272:T:C	L42P	0.968
22:23764383:T:A	L79H	0.968
22:23763311:T:C	F2S	0.961
22:23764272:T:G	L42R	0.959
22:23763311:T:G	F2C	0.956
22:23764109:C:A	N16K	0.954
22:23764109:C:G	N16K	0.954
22:23764144:T:A	L28Q	0.954
22:23764799:T:C	L111P	0.953
22:23764116:T:C	C19R	0.949
22:23764376:T:G	Y77D	0.949
22:23764268:G:C	A41P	0.947
22:23764144:T:G	L28R	0.943
22:23764108:A:T	N16I	0.941
22:23764275:T:C	L43P	0.941
22:23763314:T:A	I3N	0.933
22:23764665:T:G	Y93D	0.930
22:23763328:G:T	G8W	0.929

dbSNP variants (sampled 300 via entrez): RS1000149115 (22:23762123 C>A), RS1000462749 (22:23765941 T>C), RS1000576672 (22:23766146 GC>G), RS1001152107 (22:23761071 G>A), RS1001735342 (22:23762969 G>A), RS1002030198 (22:23765436 T>C,G), RS1002993710 (22:23763547 C>T), RS1003024804 (22:23763760 G>A,T), RS1003808195 (22:23764204 G>A), RS1003997041 (22:23765649 T>C), RS1004130938 (22:23761428 G>A,T), RS1005004159 (22:23764217 C>T), RS1005027610 (22:23765208 G>T), RS1005809221 (22:23762300 A>C,T), RS1006212087 (22:23762487 T>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:613500, MIM:615048, MIM:615911, MIM:616209

GenCC curated gene-disease

Mondo (4): agammaglobulinemia 2, autosomal recessive (MONDO:0013287), lower motor neuron syndrome with late-adult onset (MONDO:0014025), frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (MONDO:0014395), autosomal dominant mitochondrial myopathy with exercise intolerance (MONDO:0014532)

Orphanet (3): Frontotemporal dementia with motor neuron disease (Orphanet:275872), Lower motor neuron syndrome with late-adult onset (Orphanet:276435), Autosomal dominant mitochondrial myopathy with exercise intolerance (Orphanet:457050)

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

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Estradiol	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1

Clinical trials (associated diseases)

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