C12orf75

Summary

C12orf75 (chromosome 12 open reading frame 75, HGNC:35164) is a protein-coding gene on chromosome 12q23.3, encoding Overexpressed in colon carcinoma 1 protein (Q8TAD7).

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_001145199

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35164
Approved symbol	C12orf75
Name	chromosome 12 open reading frame 75
Location	12q23.3
Locus type	gene with protein product
Status	Approved
Aliases	OCC-1, OCC1, AGD3
Ensembl gene	ENSG00000235162
Ensembl biotype	protein_coding
Entrez	387882

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000443585, ENST00000546866, ENST00000548336, ENST00000548458, ENST00000549893, ENST00000549934, ENST00000552457, ENST00000612117, ENST00000886472

RefSeq mRNA: 1 — MANE Select: NM_001145199 NM_001145199

CCDS: CCDS55879

Canonical transcript exons

ENST00000443585 — 6 exons

Exon	Start	End
ENSE00000000106	105330691	105330937
ENSE00001665509	105370634	105371518
ENSE00003517367	105366617	105366696
ENSE00003597141	105348602	105348626
ENSE00003602157	105367472	105367509
ENSE00003613372	105365807	105365842

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 99.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 86.3744 / max 3257.4900, expressed in 1678 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127789	59.4155	1636
127792	19.3477	1395
127790	3.8671	915
127791	3.7442	892

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.09	gold quality
seminal vesicle	UBERON:0000998	98.89	gold quality
stromal cell of endometrium	CL:0002255	98.84	gold quality
popliteal artery	UBERON:0002250	98.68	gold quality
tibial artery	UBERON:0007610	98.68	gold quality
right coronary artery	UBERON:0001625	98.64	gold quality
aorta	UBERON:0000947	98.39	gold quality
islet of Langerhans	UBERON:0000006	98.25	gold quality
descending thoracic aorta	UBERON:0002345	98.25	gold quality
thoracic aorta	UBERON:0001515	98.16	gold quality
ascending aorta	UBERON:0001496	98.15	gold quality
bronchial epithelial cell	CL:0002328	97.87	gold quality
gall bladder	UBERON:0002110	97.45	gold quality
bronchus	UBERON:0002185	96.86	gold quality
kidney epithelium	UBERON:0004819	96.77	gold quality
left coronary artery	UBERON:0001626	96.75	gold quality
sperm	CL:0000019	96.41	gold quality
epithelial cell of pancreas	CL:0000083	96.29	gold quality
adult mammalian kidney	UBERON:0000082	96.19	gold quality
coronary artery	UBERON:0001621	96.11	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.77	gold quality
rectum	UBERON:0001052	95.74	gold quality
metanephros cortex	UBERON:0010533	95.54	gold quality
right testis	UBERON:0004534	95.51	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.49	gold quality
endocervix	UBERON:0000458	95.38	gold quality
left testis	UBERON:0004533	95.00	gold quality
pancreas	UBERON:0001264	94.72	gold quality
granulocyte	CL:0000094	94.56	gold quality
leukocyte	CL:0000738	94.49	gold quality

Single-cell (SCXA)

Detected in 28 experiment(s), a significant marker in 23.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	1284.79
E-MTAB-10042	yes	953.73
E-GEOD-130148	yes	901.95
E-HCAD-6	yes	640.59
E-CURD-112	yes	430.30
E-MTAB-6701	yes	89.24
E-CURD-122	yes	54.16
E-HCAD-8	yes	33.41
E-CURD-119	yes	30.83
E-GEOD-125970	yes	28.46
E-HCAD-31	yes	28.29
E-MTAB-10287	yes	26.01
E-CURD-46	yes	21.29
E-HCAD-1	yes	19.48
E-MTAB-10553	yes	19.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting C12orf75, 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-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
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-5680	99.91	69.83	3421
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-4671-3P	99.88	72.46	1045
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-548AJ-5P	99.78	71.12	3085

Literature-anchored findings (GeneRIF, showing 5)

• Study identified three novel transcripts of the OCC-1 gene; two of them, including a novel miRNA, are shown to be associated with the Wnt signaling pathway. Also, OCC-1 was found to affect the transcription level of its neighboring gene APPL2. (PMID:27986894)
• OCC-1D overexpression resulted in increased sub-G1 cell population in MCF7 cells, detected by flow cytometry. Results suggest that OCC1-D variant have an inhibitory effect on APPL2 expression and may regulate the cell cycle status. (PMID:30218350)
• Pan-cancer analysis of the prognostic value of C12orf75 based on data mining. (PMID:34074799)
• OCC-1D regulates Wnt signaling pathway: potential role of long noncoding RNA in colorectal cancer. (PMID:35397713)
• Downregulation of C12orf75 gene inhibits migration and invasion of liver cancer cell via suppressing the Wnt/beta-catenin signaling pathway in vitro. (PMID:35576683)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000100152
mus_musculus	1500009L16Rik	ENSMUSG00000087651
rattus_norvegicus	C7h12orf75	ENSRNOG00000060879

Protein

Protein identifiers

Overexpressed in colon carcinoma 1 protein — Q8TAD7 (reviewed: Q8TAD7)

Alternative names: AGD3

All UniProt accessions (5): Q8TAD7, F8VQD4, F8VXK5, F8W1S6, I7HHH9

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. High expression in placenta, skeletal muscle, kidney and pancreas tissues. Absent or very faint expression in heart, brain, lung and liver. Expressed during adipogenic differentiation of mesenchymal stem cells (at protein level).

Similarity. Belongs to the OCC1 family.

RefSeq proteins (1): NP_001138671* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029133	OCC1	Family

Pfam: PF15506

UniProt features (3 total): 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-Q8TAD7-F1	69.72	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 167 (showing top): GATA1_01, AFP1_Q6, DOUGLAS_BMI1_TARGETS_UP, EGR1_01, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_UP, chr12q23, LIU_PROSTATE_CANCER_DN, CHICAS_RB1_TARGETS_CONFLUENT, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, STK33_DN, HOXB6_TARGET_GENES, HSD17B8_TARGET_GENES, KLF7_TARGET_GENES, ZFP28_TARGET_GENES, MIR548AJ_3P_MIR548X_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

252 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C12orf75	BTRC	Q9Y297	557
C12orf75	IRS4	O14654	555
C12orf75	H3BTC1	H3BTC1	555
C12orf75	LUZP6	Q538Z0	470
C12orf75	C6orf132	Q5T0Z8	469
C12orf75	INSYN2B	A6NMK8	407
C12orf75	INAFM2	P0DMQ5	371
C12orf75	CFAP61	Q8NHU2	370
C12orf75	TTC9	Q92623	358
C12orf75	NUAK1	O60285	324
C12orf75	APPL2	Q8NEU8	320
C12orf75	TSPYL6	Q8N831	303
C12orf75	KDR	P35968	286
C12orf75	GOLIM4	O00461	274
C12orf75	SPATA2L	Q8IUW3	272

IntAct

31 interactions, top by confidence:

A	B	Type	Score
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
FYTTD1	UBA6	psi-mi:“MI:0914”(association)	0.530
HOXB5	VPS37C	psi-mi:“MI:0914”(association)	0.530
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
CCNL2	ZBTB43	psi-mi:“MI:0914”(association)	0.530
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.530
PTP4A1	ATE1	psi-mi:“MI:0914”(association)	0.530
UNC119	PDE8A	psi-mi:“MI:0914”(association)	0.530
OCC1	GALM	psi-mi:“MI:0915”(physical association)	0.400
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.350
DUSP22	POTEF	psi-mi:“MI:0914”(association)	0.350
C1QL4	SMC2	psi-mi:“MI:0914”(association)	0.350
CCR1	ATP5F1B	psi-mi:“MI:0914”(association)	0.350
GPRC5D	FAM234B	psi-mi:“MI:0914”(association)	0.350
SLC25A41	VPS37C	psi-mi:“MI:0914”(association)	0.350
CERS2	VPS37C	psi-mi:“MI:0914”(association)	0.350
NDUFV3	NDUFS8	psi-mi:“MI:0914”(association)	0.350
CXCL6	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
DHRS3	CLPX	psi-mi:“MI:0914”(association)	0.350
C1QL4	SRC	psi-mi:“MI:0914”(association)	0.350
ZDHHC23	VPS37C	psi-mi:“MI:0914”(association)	0.350
OCC1	PDE9A	psi-mi:“MI:0915”(physical association)	0.000
NPHP3	OCC1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (37): C12orf75 (Two-hybrid), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), PDE9A (Affinity Capture-MS), C12orf75 (Affinity Capture-MS), ELAVL1 (Protein-RNA), C12orf75 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1B0GUA9, A0A1B0GV96, A4IFJ0, B3DGJ2, O43687, O55074, O70139, O75167, P04370, P0C8S0, P0C913, P0C914, P0CD96, P19103, P27775, P49342, P61925, P61926, P62025, P63248, P63249, Q04758, Q13522, Q29026, Q3SX13, Q3T0A6, Q3ZB98, Q4VC05, Q5FVI4, Q5R6X9, Q64256, Q6P3A1, Q71U53, Q7M2N1, Q7YQJ3, Q7YQJ4, Q8N111, Q8R409, Q8TAD7, Q8WMS3

Diamond homologs: B3DGJ2, P0C913, P0C914, P0C915, P0CD96, Q8TAD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1080 predictions. Top by Δscore:

Variant	Effect	Δscore
12:105330939:T:A	donor_loss	1.0000
12:105348625:GT:G	donor_gain	1.0000
12:105366611:A:AG	acceptor_gain	1.0000
12:105366614:A:AG	acceptor_gain	1.0000
12:105366614:AAGA:A	acceptor_loss	1.0000
12:105366615:A:AG	acceptor_gain	1.0000
12:105366615:AGAA:A	acceptor_loss	1.0000
12:105366616:G:GC	acceptor_gain	1.0000
12:105366616:GA:G	acceptor_gain	1.0000
12:105366616:GAA:G	acceptor_gain	1.0000
12:105366616:GAAA:G	acceptor_gain	1.0000
12:105366692:GAAAA:G	donor_gain	1.0000
12:105366696:AG:A	donor_loss	1.0000
12:105366697:G:GG	donor_gain	1.0000
12:105366697:GTA:G	donor_loss	1.0000
12:105366698:TA:T	donor_loss	1.0000
12:105366699:AA:A	donor_loss	1.0000
12:105367469:A:AG	acceptor_gain	1.0000
12:105367470:A:G	acceptor_gain	1.0000
12:105235954:GGTAC:G	donor_loss	0.9900
12:105235955:GTA:G	donor_loss	0.9900
12:105235957:A:AT	donor_loss	0.9900
12:105235981:T:TA	donor_gain	0.9900
12:105330936:AG:A	donor_gain	0.9900
12:105330937:GG:G	donor_gain	0.9900
12:105330938:G:GG	donor_gain	0.9900
12:105348598:CTAG:C	acceptor_loss	0.9900
12:105348599:TAG:T	acceptor_loss	0.9900
12:105348600:A:AG	acceptor_gain	0.9900
12:105348600:AGGCC:A	acceptor_loss	0.9900

AlphaMissense

400 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:105366637:T:A	V43D	0.986
12:105366620:C:A	N37K	0.985
12:105366620:C:G	N37K	0.985
12:105366625:G:A	G39E	0.984
12:105366639:G:C	G44R	0.976
12:105366633:T:G	Y42D	0.972
12:105366627:G:A	G40R	0.971
12:105366627:G:C	G40R	0.971
12:105366625:G:T	G39V	0.968
12:105366628:G:A	G40E	0.968
12:105366631:T:A	V41E	0.967
12:105366621:T:C	Y38H	0.960
12:105366640:G:A	G44D	0.960
12:105366621:T:G	Y38D	0.959
12:105366624:G:A	G39R	0.958
12:105366624:G:C	G39R	0.958
12:105366622:A:C	Y38S	0.955
12:105366633:T:C	Y42H	0.952
12:105366621:T:A	Y38N	0.948
12:105366633:T:A	Y42N	0.946
12:105330895:G:C	G2R	0.942
12:105366622:A:G	Y38C	0.942
12:105365837:G:C	K34N	0.938
12:105365837:G:T	K34N	0.938
12:105366634:A:C	Y42S	0.933
12:105366619:A:T	N37I	0.928
12:105366640:G:T	G44V	0.921
12:105330900:C:G	C3W	0.919
12:105366619:A:C	N37T	0.918
12:105366628:G:T	G40V	0.918

dbSNP variants (sampled 300 via entrez): RS1000020684 (12:105371246 G>T), RS1000021302 (12:105330149 T>C), RS1000061532 (12:105336151 G>A), RS1000078290 (12:105339567 G>T), RS1000202382 (12:105330649 G>C,T), RS1000230632 (12:105348024 C>G), RS1000260428 (12:105348399 A>G), RS1000393843 (12:105329945 G>A,C), RS1000428731 (12:105336012 G>T), RS1000492383 (12:105364586 G>A), RS1000498995 (12:105342591 A>G), RS1000499365 (12:105346502 A>G,T), RS1000499524 (12:105359728 A>G), RS1000596843 (12:105330730 C>A,T), RS1000599335 (12:105346845 A>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

7 associations (top):

Study	Trait	p-value
GCST001868_8	Alzheimer’s disease biomarkers	4.000000e-06
GCST002408_11	Response to methotrexate in juvenile idiopathic arthritis	4.000000e-06
GCST004162_13	Carotid plaque burden	9.000000e-06
GCST005215_6	Corrected insulin response	6.000000e-07
GCST005216_6	Corrected insulin response adjusted for insulin sensitivity index	7.000000e-07
GCST006624_45	Systolic blood pressure	1.000000e-13
GCST008394_7	Mild to moderate chronic kidney disease	9.000000e-07

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005194	amyloid-beta measurement
EFO:0006501	carotid plaque build
EFO:0008473	insulin response measurement
EFO:0004471	insulin sensitivity measurement
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation, increases expression	3
Cyclosporine	decreases expression	3
sodium arsenite	increases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	increases abundance, increases palmitoylation, decreases expression, decreases reaction	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Carbamazepine	affects expression	1
Diethylhexyl Phthalate	increases expression	1
Diuron	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Naled	affects expression	1

Clinical trials (associated diseases)

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