RNF225

Summary

RNF225 (ring finger protein 225, HGNC:51249) is a protein-coding gene on chromosome 19q13.43, encoding RING finger protein 225 (M0QZC1).

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein ubiquitination. Predicted to be located in membrane.

Source: NCBI Gene 646862 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 87 total
• MANE Select transcript: NM_001195135

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51249
Approved symbol	RNF225
Name	ring finger protein 225
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000269855
Ensembl biotype	protein_coding
Entrez	646862

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000601382

RefSeq mRNA: 1 — MANE Select: NM_001195135 NM_001195135

CCDS: CCDS74477

Canonical transcript exons

ENST00000601382 — 1 exons

Exon	Start	End
ENSE00003026969	58395656	58397079

Expression profiles

Bgee: expression breadth broad, 32 present calls, max score 76.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2470 / max 33.1275, expressed in 102 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177842	0.2470	102

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
esophagus mucosa	UBERON:0002469	76.40	gold quality
lower esophagus mucosa	UBERON:0035834	75.28	gold quality
skin of leg	UBERON:0001511	73.24	gold quality
zone of skin	UBERON:0000014	72.40	gold quality
skin of abdomen	UBERON:0001416	71.78	gold quality
vagina	UBERON:0000996	58.68	gold quality
minor salivary gland	UBERON:0001830	53.34	gold quality
saliva-secreting gland	UBERON:0001044	51.49	gold quality
esophagus	UBERON:0001043	51.12	gold quality
tonsil	UBERON:0002372	46.24	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	45.99	silver quality
prostate gland	UBERON:0002367	42.56	gold quality
granulocyte	CL:0000094	42.47	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	42.32	gold quality
ectocervix	UBERON:0012249	41.22	gold quality
uterine cervix	UBERON:0000002	40.36	gold quality
bone marrow cell	CL:0002092	37.97	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
urinary bladder	UBERON:0001255	36.78	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
skeletal muscle tissue	UBERON:0001134	36.27	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
mucosa of stomach	UBERON:0001199	33.19	gold quality
muscle tissue	UBERON:0002385	33.19	gold quality
bone marrow	UBERON:0002371	32.67	gold quality
thoracic mammary gland	UBERON:0005200	32.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
placenta	UBERON:0001987	31.89	silver quality
gall bladder	UBERON:0002110	31.60	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.38

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rnf225	ENSMUSG00000033967
rattus_norvegicus	Rnf225	ENSRNOG00000038445

Paralogs (3): RNF183 (ENSG00000165188), RNF208 (ENSG00000212864), RNF223 (ENSG00000237330)

Protein

Protein identifiers

RING finger protein 225 — M0QZC1 (reviewed: M0QZC1)

All UniProt accessions (1): M0QZC1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001182064* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR051435	RING_finger_E3_ubiq-ligases	Family

Pfam: PF13445

UniProt features (11 total): compositionally biased region 5, region of interest 3, chain 1, transmembrane region 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-M0QZC1-F1	64.27	0.16

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, BRUINS_UVC_RESPONSE_LATE, FOSTER_KDM1A_TARGETS_DN, NCOA2_TARGET_GENES, SETD7_TARGET_GENES, ZNF513_TARGET_GENES, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION, TET1_TARGET_GENES

GO Biological Process (1): protein ubiquitination (GO:0016567)

GO Molecular Function (3): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), metal ion binding (GO:0046872)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
cation binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

106 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF225	ZNF584	Q8IVC4	645
RNF225	GASK1A	Q9UFP1	607
RNF225	OR4D6	Q8NGJ1	583
RNF225	ALG10B	Q5I7T1	507
RNF225	SPANXD	Q9BXN6	476
RNF225	K7ELM3	K7ELM3	474
RNF225	PIR	O00625	430
RNF225	SEMA3E	O15041	403
RNF225	C3orf80	F5H4A9	402
RNF225	ZNF341	Q9BYN7	402
RNF225	ANKRD30A	Q9BXX3	400
RNF225	FRAT2	O75474	370
RNF225	THSD4	Q6ZMP0	360
RNF225	DAPK2	Q9UIK4	351
RNF225	FRAT1	Q92837	335

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A286YF58, A0A2R8YCJ5, A0A7I2V3R4, A2A699, A2VDX9, A6NCS6, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NLJ0, A8MVW0, B2RU40, B7Z1M9, B8ZZ34, C9JH25, C9JVW0, D4A9R4, J3QNX5, M0QZC1, P03971, P0CG09, P0DPE3, Q0PHV7, Q0VD38, Q14761, Q29RK8, Q29RM6, Q2KJ18, Q2M3G4, Q2M3V2, Q5T442, Q64697, Q69YZ2, Q6F5E0, Q6NY19, Q6UXK2, Q80XF7

Diamond homologs: A6NCQ9, E7ERA6, M0QZC1, Q3UV31, Q6ZWI9, Q8CEF8, Q9D7D1, E1BD59, Q3SWY0, Q5ZMD4, Q6IMG5, Q6VVB1, Q8BR37, Q8IWR1, Q8QZS5, Q96D59, Q9BRZ2, Q9D241, P0DH78, Q13049, Q3UIW8, Q8CH72, A0A7I2V3R4, Q80VI1, Q9DCB3, A5D8S5, D2H6Z0, D2H788, D3ZBM4, D4A723, E1C2W7, O60858, P0CG21, Q11072, Q32L60, Q3UP44, Q4VGL6, Q58EC8, Q5M7V1, Q5TC82

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF225	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

114 predictions. Top by Δscore:

Variant	Effect	Δscore
19:58396838:C:A	acceptor_gain	0.7800
19:58396837:CCG:C	acceptor_gain	0.7700
19:58396764:C:G	acceptor_gain	0.7600
19:58396353:TCTC:T	donor_gain	0.7400
19:58396835:CGCCG:C	acceptor_gain	0.6500
19:58396763:AC:A	acceptor_gain	0.6300
19:58396835:C:A	acceptor_gain	0.6300
19:58396274:TG:T	donor_gain	0.6100
19:58396275:GG:G	donor_gain	0.6100
19:58396839:G:GC	acceptor_gain	0.6100
19:58396735:G:GT	donor_gain	0.6000
19:58396763:A:AG	acceptor_gain	0.5700
19:58396828:T:TA	acceptor_gain	0.5600
19:58396222:G:GT	donor_gain	0.5400
19:58396407:G:GA	donor_gain	0.5400
19:58396764:C:CA	acceptor_gain	0.5300
19:58396359:G:GG	donor_gain	0.5100
19:58396358:A:AG	donor_gain	0.5000
19:58396713:G:GA	donor_gain	0.5000
19:58396712:T:TA	donor_gain	0.4900
19:58396420:T:A	donor_gain	0.4800
19:58396760:C:A	acceptor_gain	0.4700
19:58396838:CG:C	acceptor_gain	0.4700
19:58396312:TTC:T	donor_gain	0.4600
19:58396406:T:TA	donor_gain	0.4500
19:58396363:C:G	donor_gain	0.4400
19:58396728:G:GA	donor_gain	0.4100
19:58396522:GGC:G	donor_gain	0.3900
19:58396736:GCGTC:G	donor_gain	0.3800
19:58396756:ATCCC:A	acceptor_gain	0.3800

AlphaMissense

2042 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:58396326:G:C	K79N	0.999
19:58396326:G:T	K79N	0.999
19:58396279:T:C	C64R	0.998
19:58396349:T:C	F87S	0.998
19:58396351:T:C	C88R	0.998
19:58396360:T:C	C91R	0.998
19:58396411:T:C	C108R	0.998
19:58396279:T:A	C64S	0.997
19:58396280:G:C	C64S	0.997
19:58396286:T:C	I66T	0.997
19:58396289:G:A	C67Y	0.997
19:58396337:G:A	C83Y	0.997
19:58396348:T:C	F87L	0.997
19:58396350:C:A	F87L	0.997
19:58396350:C:G	F87L	0.997
19:58396352:G:A	C88Y	0.997
19:58396353:T:G	C88W	0.997
19:58396360:T:A	C91S	0.997
19:58396361:G:C	C91S	0.997
19:58396362:C:G	C91W	0.997
19:58396286:T:A	I66N	0.996
19:58396288:T:C	C67R	0.996
19:58396322:C:A	P78H	0.996
19:58396534:T:C	F149L	0.996
19:58396536:C:A	F149L	0.996
19:58396536:C:G	F149L	0.996
19:58396281:C:G	C64W	0.995
19:58396300:T:C	F71L	0.995
19:58396302:C:A	F71L	0.995
19:58396302:C:G	F71L	0.995

dbSNP variants (sampled 300 via entrez): RS1000196076 (19:58393814 T>C), RS1000393656 (19:58396993 C>A,G,T), RS1000832213 (19:58395798 C>G), RS1001032676 (19:58395984 A>G), RS1001974531 (19:58395372 G>A), RS1002472704 (19:58395563 G>A,T), RS1002487992 (19:58395378 G>A), RS1003689654 (19:58394246 C>G), RS1004043857 (19:58394052 C>T), RS1004192214 (19:58397212 G>A), RS1004253202 (19:58397508 G>A), RS1004490418 (19:58396988 A>C,G,T), RS1004903689 (19:58394112 TGTC>T), RS1005400207 (19:58396415 C>T), RS1005497722 (19:58396259 C>A,G,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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
licochalcone B	increases expression	1
Phthalic Acids	increases expression, increases methylation	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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