C7orf25

Summary

C7orf25 (chromosome 7 open reading frame 25, HGNC:21703) is a protein-coding gene on chromosome 7p14.1, encoding UPF0415 protein C7orf25 (Q9BPX7).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 10 total — 1 pathogenic
• MANE Select transcript: NM_001099858

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21703
Approved symbol	C7orf25
Name	chromosome 7 open reading frame 25
Location	7p14.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC2821
Ensembl gene	ENSG00000136197
Ensembl biotype	protein_coding
Entrez	79020

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000350427, ENST00000425683, ENST00000432637, ENST00000438029, ENST00000447342, ENST00000882403, ENST00000932826, ENST00000932827, ENST00000962379

RefSeq mRNA: 3 — MANE Select: NM_001099858 NM_001099858, NM_001363436, NM_024054

CCDS: CCDS5466

Canonical transcript exons

ENST00000350427 — 2 exons

Exon	Start	End
ENSE00001893394	42911915	42912070
ENSE00002722181	42909273	42910921

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 86.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.6823 / max 88.6392, expressed in 1589 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83790	3.6823	1589

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.10	gold quality
monocyte	CL:0000576	75.22	gold quality
corpus callosum	UBERON:0002336	74.94	gold quality
leukocyte	CL:0000738	74.67	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.78	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.44	gold quality
islet of Langerhans	UBERON:0000006	72.30	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	71.95	gold quality
right adrenal gland cortex	UBERON:0035827	71.49	gold quality
substantia nigra	UBERON:0002038	71.26	gold quality
calcaneal tendon	UBERON:0003701	70.99	gold quality
descending thoracic aorta	UBERON:0002345	70.76	gold quality
hypothalamus	UBERON:0001898	70.62	gold quality
endometrium	UBERON:0001295	70.51	gold quality
anterior cingulate cortex	UBERON:0009835	70.16	gold quality
cerebral cortex	UBERON:0000956	70.03	gold quality
Ammon’s horn	UBERON:0001954	70.03	gold quality
amygdala	UBERON:0001876	69.96	gold quality
muscle of leg	UBERON:0001383	69.82	gold quality
left adrenal gland	UBERON:0001234	69.74	gold quality
right adrenal gland	UBERON:0001233	69.73	gold quality
gastrocnemius	UBERON:0001388	69.68	gold quality
stromal cell of endometrium	CL:0002255	69.55	gold quality
right frontal lobe	UBERON:0002810	69.52	gold quality
smooth muscle tissue	UBERON:0001135	69.44	gold quality
thoracic aorta	UBERON:0001515	69.33	gold quality
temporal lobe	UBERON:0001871	69.33	gold quality
popliteal artery	UBERON:0002250	69.26	gold quality
tibial artery	UBERON:0007610	69.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting C7orf25, 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-3925-3P	100.00	69.95	1237
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-2116-5P	99.32	69.34	1273
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-154-5P	98.92	66.65	733
HSA-MIR-29B-1-5P	98.86	68.35	1364

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	C2H7orf25	ENSDARG00000057184
mus_musculus	AW209491	ENSMUSG00000039182
rattus_norvegicus	C17h7orf25	ENSRNOG00000015523
drosophila_melanogaster	CG42553	FBGN0260755
caenorhabditis_elegans		WBGENE00018015

Protein

Protein identifiers

UPF0415 protein C7orf25 — Q9BPX7 (reviewed: Q9BPX7)

All UniProt accessions (3): C9JF90, C9K0L6, Q9BPX7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0415 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BPX7-1	1	yes
Q9BPX7-2	2

RefSeq proteins (3): NP_001093328, NP_001350365, NP_076959 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010733	DUF1308	Domain
IPR041076	DUF5614	Domain

Pfam: PF07000, PF18474

UniProt features (4 total): chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BPX7-F1	89.57	0.79

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 67 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TATCTGG_MIR488, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, ACEVEDO_LIVER_CANCER_UP, DURCHDEWALD_SKIN_CARCINOGENESIS_UP, KIM_WT1_TARGETS_DN, WILCOX_RESPONSE_TO_PROGESTERONE_UP, MIKKELSEN_ES_ICP_WITH_H3K4ME3, CHANGOLKAR_H2AFY_TARGETS_DN, KRIEG_KDM3A_TARGETS_NOT_HYPOXIA, ZHOU_INFLAMMATORY_RESPONSE_FIMA_DN, CIITA_TARGET_GENES, RBM34_TARGET_GENES, SFMBT1_TARGET_GENES, SKIL_TARGET_GENES

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

306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C7orf25	CXorf58	Q96LI9	666
C7orf25	SMLR1	H3BR10	580
C7orf25	PSMA2	P25787	539
C7orf25	VOPP1	Q96AW1	496
C7orf25	SEC61G	P38384	490
C7orf25	FAM204A	Q9H8W3	477
C7orf25	BLVRA	P53004	433
C7orf25	ZSCAN2	Q7Z7L9	419
C7orf25	LANCL2	Q9NS86	413
C7orf25	FAM220A	Q7Z4H9	412
C7orf25	STK17A	Q9UEE5	408
C7orf25	ANKRD40	Q6AI12	400
C7orf25	RSRP1	Q9BUV0	397
C7orf25	MRPL54	Q6P161	378
C7orf25	SMAGP	Q0VAQ4	378

IntAct

32 interactions, top by confidence:

A	B	Type	Score
	C7orf25	psi-mi:“MI:0915”(physical association)	0.560
TARS1	C7orf25	psi-mi:“MI:0915”(physical association)	0.560
C7orf25		psi-mi:“MI:0915”(physical association)	0.560
GTPBP1	C7orf25	psi-mi:“MI:0915”(physical association)	0.560
RANBP2	C7orf25	psi-mi:“MI:0407”(direct interaction)	0.540
C7orf25	RANBP2	psi-mi:“MI:0915”(physical association)	0.540
C7orf25	MUC5B	psi-mi:“MI:0915”(physical association)	0.400
C7orf25	CEP70	psi-mi:“MI:0915”(physical association)	0.370
C7orf25	CRYM	psi-mi:“MI:0915”(physical association)	0.370
C7orf25	DACT1	psi-mi:“MI:0915”(physical association)	0.370
EZH2	C7orf25	psi-mi:“MI:0915”(physical association)	0.370
C7orf25	MTOR	psi-mi:“MI:0915”(physical association)	0.370
C7orf25	FYN	psi-mi:“MI:0915”(physical association)	0.370
C7orf25	HAP1	psi-mi:“MI:0915”(physical association)	0.370
C7orf25	NGEF	psi-mi:“MI:0915”(physical association)	0.370
PTN	C7orf25	psi-mi:“MI:0915”(physical association)	0.370
RASSF1	C7orf25	psi-mi:“MI:0915”(physical association)	0.370
RPL36AL	C7orf25	psi-mi:“MI:0915”(physical association)	0.370
SF3B2	C7orf25	psi-mi:“MI:0915”(physical association)	0.370
C7orf25	UBE2D1	psi-mi:“MI:0915”(physical association)	0.370
GTPBP1	C7orf25	psi-mi:“MI:0915”(physical association)	0.000
FRA10AC1	C7orf25	psi-mi:“MI:0915”(physical association)	0.000
HEXD	C7orf25	psi-mi:“MI:0915”(physical association)	0.000
TUBB2A	C7orf25	psi-mi:“MI:0915”(physical association)	0.000
BRD4	C7orf25	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (24): C7orf25 (Two-hybrid), MYH14 (Affinity Capture-MS), MUC5B (Affinity Capture-MS), C7orf25 (Two-hybrid), MUC5B (Affinity Capture-MS), C7orf25 (Affinity Capture-MS), C7orf25 (Two-hybrid), C7orf25 (Two-hybrid), C7orf25 (Two-hybrid), C7orf25 (Two-hybrid), C7orf25 (Cross-Linking-MS (XL-MS)), FYN (Two-hybrid), CEP70 (Two-hybrid), RPL36AL (Two-hybrid), CRYM (Two-hybrid)

ESM2 similar proteins: A0A0M5K865, A0A2H5RJD4, A0JND4, A4RKC3, A8N5E5, A8NS89, B0D0N9, B4IB36, B4QL99, B6K0N7, E9M7A1, F4IF36, F4JPP0, G4YRT1, G4YUT3, P06623, P09543, P0CV73, P93042, Q0E0Q3, Q0JLS6, Q0UI93, Q1LZE8, Q2H0G2, Q2M3Z7, Q2M3Z8, Q2M405, Q2M408, Q2QMH2, Q2R224, Q2VF19, Q43827, Q5M888, Q5RFD0, Q5RFL4, Q6FLD4, Q75EG6, Q7S8J7, Q803H0, Q810J8

Diamond homologs: Q08AW5, Q1LZE8, Q5BKL1, Q5M888, Q803H0, Q91WD4, Q9BPX7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

10 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	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59681	GRCh38/hg38 7p14.1-13(chr7:42388724-43606751)x3	Pathogenic

SpliceAI

498 predictions. Top by Δscore:

Variant	Effect	Δscore
7:42912060:T:TA	donor_gain	1.0000
7:42910917:CTTTC:C	acceptor_gain	0.9900
7:42910922:C:CC	acceptor_gain	0.9900
7:42910923:T:A	acceptor_loss	0.9900
7:42910920:TCCTA:T	acceptor_loss	0.9800
7:42910921:CCTAG:C	acceptor_loss	0.9800
7:42910922:CTAGG:C	acceptor_loss	0.9800
7:42912066:A:AC	donor_gain	0.9700
7:42912028:C:CT	donor_gain	0.9600
7:42910919:TTC:T	acceptor_gain	0.9500
7:42910920:TC:T	acceptor_gain	0.9500
7:42910921:CC:C	acceptor_gain	0.9500
7:42912027:TC:T	donor_gain	0.9500
7:42912061:C:A	donor_gain	0.9500
7:42911015:G:C	donor_gain	0.9400
7:42911467:CG:C	donor_gain	0.9400
7:42911487:G:GA	donor_gain	0.9400
7:42911541:C:CT	donor_gain	0.9400
7:42911914:CCGG:C	donor_gain	0.9400
7:42910918:TTTC:T	acceptor_gain	0.9300
7:42911076:T:TA	donor_gain	0.9300
7:42911466:A:AC	donor_gain	0.9300
7:42911467:C:CC	donor_gain	0.9300
7:42912029:C:CT	donor_gain	0.9300
7:42911460:GTACT:G	donor_loss	0.9200
7:42911461:TACTT:T	donor_loss	0.9200
7:42911462:ACT:A	donor_loss	0.9200
7:42911463:CTT:C	donor_loss	0.9200
7:42911464:TTA:T	donor_loss	0.9200
7:42911465:TA:T	donor_loss	0.9200

AlphaMissense

2763 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:42909702:A:T	L400H	1.000
7:42909777:G:T	A375D	1.000
7:42909815:A:C	F362L	1.000
7:42909815:A:T	F362L	1.000
7:42909817:A:G	F362L	1.000
7:42910555:A:G	W116R	1.000
7:42910555:A:T	W116R	1.000
7:42910695:A:G	L69P	1.000
7:42910757:G:C	F48L	1.000
7:42910757:G:T	F48L	1.000
7:42910759:A:G	F48L	1.000
7:42909689:T:A	K404N	0.999
7:42909689:T:G	K404N	0.999
7:42909702:A:G	L400P	0.999
7:42909705:G:T	A399E	0.999
7:42909707:T:A	R398S	0.999
7:42909707:T:G	R398S	0.999
7:42909708:C:G	R398T	0.999
7:42909718:G:C	H395D	0.999
7:42909753:G:T	A383E	0.999
7:42909754:C:G	A383P	0.999
7:42909757:C:G	A382P	0.999
7:42909759:C:G	R381T	0.999
7:42909762:A:T	V380D	0.999
7:42909764:A:C	F379L	0.999
7:42909764:A:T	F379L	0.999
7:42909765:A:G	F379S	0.999
7:42909766:A:G	F379L	0.999
7:42909773:A:C	N376K	0.999
7:42909773:A:T	N376K	0.999

dbSNP variants (sampled 300 via entrez): RS1000335453 (7:42913264 C>T), RS1000430279 (7:42912952 T>C), RS1000736839 (7:42909254 A>C,G), RS1002588763 (7:42912496 G>C), RS1002708766 (7:42911428 C>A,T), RS1003393016 (7:42909903 C>A,T), RS1003401187 (7:42911602 C>T), RS1003697016 (7:42911239 T>G), RS1003954407 (7:42911799 GC>G), RS1004658309 (7:42912450 G>A), RS1004779869 (7:42912229 T>A,C), RS1005218368 (7:42909125 A>G), RS1005499428 (7:42909331 G>A), RS1006402489 (7:42909982 CA>C), RS1007169361 (7:42913393 A>G)

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

2 associations (top):

Study	Trait	p-value
GCST005212_23	Asthma	4.000000e-06
GCST010121_7	Ceramide levels (C24:0)	3.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression	1
salinomycin	decreases expression	1
manganese chloride	increases abundance, increases expression	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1
Coal	increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Formaldehyde	decreases expression	1
Manganese	increases abundance, increases expression	1
Selenium	decreases expression	1
Smoke	increases abundance, increases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	decreases expression	1
S-Nitrosoglutathione	affects expression	1

Clinical trials (associated diseases)

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