C2orf15

Summary

C2orf15 (chromosome 2 open reading frame 15, HGNC:28436) is a protein-coding gene on chromosome 2q11.2, encoding Uncharacterized protein C2orf15 (Q8WU43).

Enables RNA binding activity.

Source: NCBI Gene 150590 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_144706

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28436
Approved symbol	C2orf15
Name	chromosome 2 open reading frame 15
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC29762
Ensembl gene	ENSG00000273045
Ensembl biotype	protein_coding
Entrez	150590

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000409684, ENST00000496794, ENST00000650052, ENST00000851977, ENST00000851978, ENST00000918010, ENST00000918011, ENST00000918012

RefSeq mRNA: 2 — MANE Select: NM_144706 NM_001317992, NM_144706

CCDS: CCDS2038

Canonical transcript exons

ENST00000650052 — 4 exons

Exon	Start	End
ENSE00001164400	99150483	99151669
ENSE00003704408	99142285	99142401
ENSE00003839441	99141707	99141937
ENSE00003908850	99147402	99147493

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 87.75.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2780 / max 47.6695, expressed in 619 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21557	2.0077	606
21558	0.2703	155

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	87.75	gold quality
secondary oocyte	CL:0000655	82.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.52	gold quality
islet of Langerhans	UBERON:0000006	79.06	gold quality
oviduct epithelium	UBERON:0004804	75.19	silver quality
adenohypophysis	UBERON:0002196	73.95	gold quality
pituitary gland	UBERON:0000007	73.48	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.31	gold quality
metanephros cortex	UBERON:0010533	71.51	gold quality
pancreas	UBERON:0001264	70.78	gold quality
rectum	UBERON:0001052	69.83	gold quality
right uterine tube	UBERON:0001302	69.27	gold quality
cerebellar cortex	UBERON:0002129	68.92	gold quality
cerebellar hemisphere	UBERON:0002245	68.91	gold quality
left lobe of thyroid gland	UBERON:0001120	68.83	gold quality
right lobe of thyroid gland	UBERON:0001119	68.56	gold quality
thyroid gland	UBERON:0002046	68.31	gold quality
prefrontal cortex	UBERON:0000451	67.85	gold quality
cerebellum	UBERON:0002037	67.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	67.64	gold quality
body of pancreas	UBERON:0001150	67.42	gold quality
adult mammalian kidney	UBERON:0000082	67.34	gold quality
fallopian tube	UBERON:0003889	66.65	gold quality
gall bladder	UBERON:0002110	66.26	gold quality
buccal mucosa cell	CL:0002336	65.73	silver quality
Brodmann (1909) area 9	UBERON:0013540	65.32	gold quality
mucosa of transverse colon	UBERON:0004991	65.05	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	65.01	gold quality
cortex of kidney	UBERON:0001225	64.74	gold quality
hypothalamus	UBERON:0001898	64.45	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting C2orf15, 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-9-5P	100.00	72.28	2361
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-2052	99.79	69.37	2031

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein C2orf15 — Q8WU43 (reviewed: Q8WU43)

All UniProt accessions (2): Q8WU43, A0A3F2YNW3

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (2): NP_001304921, NP_653307* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR041537	DUF5547	Family

Pfam: PF17701

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WU43-F1	58.33	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 52 (showing top): GFI1_01, RFX1_02, NUYTTEN_EZH2_TARGETS_DN, TAATTA_CHX10_01, YGCGYRCGC_UNKNOWN, RFX1_01, chr2q11, KRIEG_HYPOXIA_NOT_VIA_KDM3A, EBNA1BP2_TARGET_GENES, FEV_TARGET_GENES, FOXN3_TARGET_GENES, HMG20B_TARGET_GENES, HOXB6_TARGET_GENES, ID1_TARGET_GENES, SNAI1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	1
binding	1

Protein interactions and networks

STRING

112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C2orf15	MRPL14	Q6P1L8	480
C2orf15	NCKAP5L	Q9HCH0	446
C2orf15	TMEM213	A2RRL7	445
C2orf15	CSRNP2	Q9H175	434
C2orf15	MRPL46	Q9H2W6	392
C2orf15	ZNF239	Q16600	391
C2orf15	ZCCHC14	Q8WYQ9	370
C2orf15	KHDC1	Q4VXA5	370
C2orf15	BZW2	Q9Y6E2	357
C2orf15	POC1B	Q8TC44	325
C2orf15	RBM47	A0AV96	323
C2orf15	TOM1L1	O75674	323
C2orf15	LRRC59	Q96AG4	321
C2orf15	A0A0A6YYJ8	A0A0A6YYJ8	320
C2orf15	LUC7L2	Q9Y383	315

IntAct

16 interactions, top by confidence:

A	B	Type	Score
DYNLT3	C2orf15	psi-mi:“MI:0915”(physical association)	0.560
AGER	C2orf15	psi-mi:“MI:0915”(physical association)	0.560
PKN1	C2orf15	psi-mi:“MI:0915”(physical association)	0.560
UQCRC1	C2orf15	psi-mi:“MI:0915”(physical association)	0.560
EZR	C2orf15	psi-mi:“MI:0915”(physical association)	0.560
C2orf15	DYNLT3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): C2orf15 (Two-hybrid), C2orf15 (Negative Genetic), RPS2 (Cross-Linking-MS (XL-MS)), C2orf15 (Affinity Capture-RNA), C2orf15 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0F6B506, A2AVJ0, A6ZQU2, A6ZRI9, A6ZTA1, A8MTZ7, B5VQF5, C0R512, C7GPA7, C8ZFY3, O14323, O84275, P04877, P08593, P09281, P13093, P13742, P21740, P33199, P34515, P38083, P38354, P38881, P40003, P40385, P46983, P53850, P53963, P92528, Q04930, Q05105, Q07967, Q08270, Q17604, Q1X6X8, Q1X6Y3, Q2GF15, Q55G18, Q5UPI4, Q60480

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	4
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

748 predictions. Top by Δscore:

Variant	Effect	Δscore
2:99142397:GCCAG:G	donor_gain	1.0000
2:99142401:GGT:G	donor_loss	1.0000
2:99142402:G:GA	donor_loss	1.0000
2:99150481:A:AG	acceptor_gain	1.0000
2:99150482:G:GG	acceptor_gain	1.0000
2:99150482:GT:G	acceptor_gain	1.0000
2:99142402:G:GG	donor_gain	0.9900
2:99142403:T:A	donor_loss	0.9900
2:99147390:T:G	acceptor_gain	0.9900
2:99148276:A:AC	donor_gain	0.9900
2:99150482:GTA:G	acceptor_gain	0.9900
2:99141614:G:GG	donor_gain	0.9800
2:99142398:CCAG:C	donor_gain	0.9800
2:99142399:CAG:C	donor_gain	0.9800
2:99142400:AG:A	donor_gain	0.9800
2:99142401:GG:G	donor_gain	0.9800
2:99147394:T:G	acceptor_gain	0.9800
2:99148277:A:C	donor_gain	0.9800
2:99150477:TTTCA:T	acceptor_loss	0.9800
2:99150479:TCA:T	acceptor_loss	0.9800
2:99150480:CAGT:C	acceptor_loss	0.9800
2:99150481:AGT:A	acceptor_loss	0.9800
2:99150482:G:GC	acceptor_loss	0.9800
2:99141917:G:GT	donor_gain	0.9700
2:99142017:G:GT	donor_gain	0.9700
2:99142280:TGCA:T	acceptor_loss	0.9700
2:99142281:GCA:G	acceptor_loss	0.9700
2:99142282:CA:C	acceptor_loss	0.9700
2:99142283:A:AG	acceptor_gain	0.9700
2:99142283:A:AT	acceptor_loss	0.9700

AlphaMissense

808 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:99150565:T:C	F37L	0.902
2:99150567:T:A	F37L	0.902
2:99150567:T:G	F37L	0.902
2:99150679:T:C	F75L	0.898
2:99150681:T:A	F75L	0.898
2:99150681:T:G	F75L	0.898
2:99150798:A:C	K114N	0.686
2:99150798:A:T	K114N	0.686
2:99150574:A:C	S40R	0.681
2:99150576:T:A	S40R	0.681
2:99150576:T:G	S40R	0.681
2:99150830:A:T	E125V	0.659
2:99150680:T:C	F75S	0.642
2:99150680:T:G	F75C	0.633
2:99150679:T:G	F75V	0.594
2:99150579:A:C	K41N	0.576
2:99150579:A:T	K41N	0.576
2:99150794:T:A	V113D	0.572
2:99150561:G:A	M35I	0.569
2:99150561:G:C	M35I	0.569
2:99150561:G:T	M35I	0.569
2:99150578:A:T	K41I	0.565

dbSNP variants (sampled 300 via entrez): RS1000789496 (2:99142979 T>C), RS1001179458 (2:99150165 G>T), RS1001272569 (2:99150310 A>G), RS1001427931 (2:99141492 G>A), RS1001666055 (2:99147433 T>G), RS1002866914 (2:99140250 T>C,G), RS1003079741 (2:99146214 G>A), RS1003339982 (2:99144821 G>A), RS1003606391 (2:99145840 T>C), RS1003615623 (2:99152077 C>T), RS1004487140 (2:99141191 T>A,G), RS1004819451 (2:99139721 T>A,C), RS1005352412 (2:99141858 C>G,T), RS1005525704 (2:99148288 T>C), RS1005730391 (2:99142301 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

7 associations (top):

Study	Trait	p-value
GCST001241_13	Bipolar disorder	3.000000e-06
GCST90002385_136	High light scatter reticulocyte count	4.000000e-17
GCST90002385_137	High light scatter reticulocyte count	1.000000e-09
GCST90002386_252	High light scatter reticulocyte percentage of red cells	4.000000e-18
GCST90002386_253	High light scatter reticulocyte percentage of red cells	7.000000e-10
GCST90002405_132	Reticulocyte count	5.000000e-13
GCST90002406_25	Reticulocyte fraction of red cells	3.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
dinophysistoxin 1	decreases expression	1
K 7174	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
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Aflatoxin M1	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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