RNF228

Summary

RNF228 (ring finger protein 228, HGNC:55809) is a protein-coding gene on chromosome 2q36.1, encoding RING finger protein 228 (A0A7I2V3R4).

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

Source: NCBI Gene 122319436 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395871

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55809
Approved symbol	RNF228
Name	ring finger protein 228
Location	2q36.1
Locus type	gene with protein product
Status	Approved
Aliases	AC010980.1
Ensembl gene	ENSG00000288658
Ensembl biotype	protein_coding
Entrez	122319436

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000678139

RefSeq mRNA: 1 — MANE Select: NM_001395871 NM_001395871

CCDS: CCDS92948

Canonical transcript exons

ENST00000678139 — 1 exons

Exon	Start	End
ENSE00003978312	222314148	222320155

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 96.01.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.01	gold quality
endothelial cell	CL:0000115	94.28	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.39	silver quality
middle temporal gyrus	UBERON:0002771	86.09	silver quality
entorhinal cortex	UBERON:0002728	81.04	gold quality
dorsal root ganglion	UBERON:0000044	79.66	gold quality
Brodmann (1909) area 46	UBERON:0006483	79.62	gold quality
superior frontal gyrus	UBERON:0002661	77.57	gold quality
Ammon’s horn	UBERON:0001954	75.79	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	74.33	gold quality
prefrontal cortex	UBERON:0000451	74.16	gold quality
postcentral gyrus	UBERON:0002581	73.86	silver quality
cerebral cortex	UBERON:0000956	73.37	gold quality
frontal cortex	UBERON:0001870	73.20	gold quality
trigeminal ganglion	UBERON:0001675	73.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.79	gold quality
temporal lobe	UBERON:0001871	72.63	gold quality
parietal lobe	UBERON:0001872	72.51	silver quality
neocortex	UBERON:0001950	72.18	gold quality
anterior cingulate cortex	UBERON:0009835	71.05	gold quality
lateral nuclear group of thalamus	UBERON:0002736	70.21	gold quality
primary visual cortex	UBERON:0002436	69.70	gold quality
forebrain	UBERON:0001890	69.60	gold quality
right frontal lobe	UBERON:0002810	68.94	gold quality
caudate nucleus	UBERON:0001873	68.91	gold quality
nucleus accumbens	UBERON:0001882	68.63	gold quality
putamen	UBERON:0001874	68.37	gold quality
brain	UBERON:0000955	67.74	gold quality
amygdala	UBERON:0001876	67.70	gold quality
heart right ventricle	UBERON:0002080	67.10	silver quality

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm2102	ENSMUSG00000118426
drosophila_melanogaster	roq	FBGN0036621

Paralogs (5): RC3H2 (ENSG00000056586), RC3H1 (ENSG00000135870), RNF227 (ENSG00000179859), RNF182 (ENSG00000180537), RNF224 (ENSG00000233198)

Protein

Protein identifiers

RING finger protein 228 — A0A7I2V3R4 (reviewed: A0A7I2V3R4)

All UniProt accessions (1): A0A7I2V3R4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001382800* (*=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 (12 total): compositionally biased region 5, region of interest 3, transmembrane region 2, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A7I2V3R4-F1	64.20	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_3, PEREZ_TP53_TARGETS, FULCHER_INFLAMMATORY_RESPONSE_LECTIN_VS_LPS_DN, GOBP_PROTEIN_MODIFICATION_PROCESS, chr2q36, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_UP

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

0 interactions, top by confidence (×1000):

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: A0A7I2V3R4, D2H788, D3ZBM4, O70277, O75382, P0DH78, Q3SWY0, Q3UIW8, Q58EC8, Q68EV7, Q6INB3, Q8C432, Q8N6D2, Q8QZS5, Q96D59, Q9BRZ2, Q9R1R2, D2H6Z0, D4A723, E1C2W7, Q03601, Q13049, Q6GND7, Q6NRD3, Q8BG47, Q8CH72, Q8N8N0, Q9D241, A6NIN4, Q3T0Y9, Q6IMG5, Q8K0W3, Q9DCB3, Q9FY48, Q9H0X6, Q9NXI6, A4IF63, A5D7F8, A5D8S5, D2GXS7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000017225 (2:222319632 G>C), RS1000072180 (2:222319369 C>T), RS1000478580 (2:222318426 T>A), RS1000877815 (2:222313907 C>T), RS1000934962 (2:222318714 G>A,C), RS1001556406 (2:222320293 C>T), RS1001772396 (2:222315522 T>C,G), RS1001862087 (2:222315462 C>G), RS1001873288 (2:222315209 A>C), RS1002371809 (2:222314024 A>T), RS1002726063 (2:222313783 T>C), RS1002822987 (2:222320586 T>A), RS1003034170 (2:222316887 A>G), RS1003399835 (2:222316632 A>C,G), RS1004659685 (2:222318068 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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