RNF112

gene
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Also known as BFP

Summary

RNF112 (ring finger protein 112, HGNC:12968) is a protein-coding gene on chromosome 17p11.2, encoding RING finger protein 112 (Q9ULX5). E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development.

This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17.

Source: NCBI Gene 7732 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 76 total
  • MANE Select transcript: NM_007148

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:12968
Approved symbolRNF112
Namering finger protein 112
Location17p11.2
Locus typegene with protein product
StatusApproved
AliasesBFP
Ensembl geneENSG00000128482
Ensembl biotypeprotein_coding
OMIM601237
Entrez7732

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000461366, ENST00000574149, ENST00000574782, ENST00000575165, ENST00000580109, ENST00000908743, ENST00000908744

RefSeq mRNA: 1 — MANE Select: NM_007148 NM_007148

CCDS: CCDS58529

Canonical transcript exons

ENST00000461366 — 14 exons

ExonStartEnd
ENSE000016732941941528619415339
ENSE000017073771941551819415592
ENSE000018318191941123219411462
ENSE000018615521941503819415207
ENSE000019479991941570519417276
ENSE000019579891941293819413144
ENSE000023376271941458619414660
ENSE000023382211941357719413681
ENSE000023392711941444919414505
ENSE000024112261941328019413411
ENSE000024208661941409519414145
ENSE000024221861941477019414887
ENSE000035621191941163019411670
ENSE000036582631941249819412783

Expression profiles

Bgee: expression breadth ubiquitous, 198 present calls, max score 98.02.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0612 / max 178.0678, expressed in 280 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1598411.2519220
1598400.5006132
1598380.228185
1598390.080643

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right hemisphere of cerebellumUBERON:001489098.02gold quality
cerebellar cortexUBERON:000212997.99gold quality
cerebellar hemisphereUBERON:000224597.99gold quality
cerebellumUBERON:000203797.69gold quality
cerebellar vermisUBERON:000472096.95gold quality
ganglionic eminenceUBERON:000402392.86gold quality
right frontal lobeUBERON:000281092.35gold quality
cortical plateUBERON:000534392.13gold quality
Brodmann (1909) area 9UBERON:001354091.02gold quality
nucleus accumbensUBERON:000188290.77gold quality
prefrontal cortexUBERON:000045190.46gold quality
frontal cortexUBERON:000187090.02gold quality
putamenUBERON:000187489.70gold quality
neocortexUBERON:000195089.69gold quality
dorsolateral prefrontal cortexUBERON:000983489.39gold quality
caudate nucleusUBERON:000187389.12gold quality
anterior cingulate cortexUBERON:000983589.08gold quality
cerebral cortexUBERON:000095688.73gold quality
ventricular zoneUBERON:000305388.61gold quality
brainUBERON:000095588.00gold quality
Ammon’s hornUBERON:000195487.76gold quality
hypothalamusUBERON:000189887.46gold quality
primary visual cortexUBERON:000243687.18gold quality
forebrainUBERON:000189087.14gold quality
amygdalaUBERON:000187687.09gold quality
occipital lobeUBERON:000202187.00gold quality
parietal lobeUBERON:000187286.49gold quality
superior frontal gyrusUBERON:000266186.28gold quality
tendon of biceps brachiiUBERON:000818886.16gold quality
postcentral gyrusUBERON:000258186.05gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no1.92

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

TargetRegulation
CDK5
CDKN1B
IL12A

Upstream regulators (CollecTRI, top): RAI1

miRNA regulators (miRDB)

38 targeting RNF112, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-8485100.0077.574731
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-335-3P99.9373.364958
HSA-MIR-394199.8670.542735
HSA-MIR-6764-5P99.7567.892304
HSA-MIR-317599.6566.302031
HSA-MIR-608199.4866.071446
HSA-MIR-469699.4867.481040
HSA-MIR-6853-3P99.3670.791558
HSA-MIR-6837-5P99.2565.471632
HSA-MIR-4685-5P99.2565.991563
HSA-MIR-361-3P99.1966.451381
HSA-MIR-429299.1665.571767
HSA-MIR-6791-5P99.1665.921844
HSA-MIR-376A-3P99.0669.171128
HSA-MIR-376B-3P99.0669.171128
HSA-MIR-10A-5P98.8969.85712
HSA-MIR-10B-5P98.8969.86711
HSA-MIR-330-5P98.7367.631788
HSA-MIR-7155-5P98.6566.141290
HSA-MIR-5008-5P98.4265.871019
HSA-MIR-4436B-3P98.2565.261494
HSA-MIR-32698.2566.441565
HSA-MIR-6735-5P98.2465.361488
HSA-MIR-7843-5P98.1265.261421
HSA-MIR-443897.9663.70947
HSA-MIR-7113-5P97.8867.331735
HSA-MIR-4632-5P97.8265.381470
HSA-MIR-6879-5P97.7765.521521

Literature-anchored findings (GeneRIF, showing 3)

  • Plzf was identified as a specific interacting protein of Znf179; the region containing the first two zinc fingers is critical for its interaction with Znf179. Cellular localization of Znf179 changed from cytoplasm to nucleus when Plzf was co-expressed. (PMID:24359566)
  • Znf179 can reprogram glioblastoma multiforme cells into a more-differentiated phenotype and prevent the progression of gliomas to a more-malignant state through p53-mediated cell-cycle signaling pathways. (PMID:28684796)
  • RNF112-mediated FOXM1 ubiquitination suppresses the proliferation and invasion of gastric cancer. (PMID:37288663)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
mus_musculusRnf112ENSMUSG00000010086
rattus_norvegicusRnf112ENSRNOG00000002364
drosophila_melanogasteratlFBGN0039213

Paralogs (10): GBP3 (ENSG00000117226), GBP1 (ENSG00000117228), ATL2 (ENSG00000119787), GBP5 (ENSG00000154451), GBP2 (ENSG00000162645), GBP4 (ENSG00000162654), GBP6 (ENSG00000183347), ATL3 (ENSG00000184743), ATL1 (ENSG00000198513), GBP7 (ENSG00000213512)

Protein

Protein identifiers

RING finger protein 112Q9ULX5 (reviewed: Q9ULX5)

Alternative names: Brain finger protein, Zinc finger protein 179

All UniProt accessions (2): Q9ULX5, J3QRB8

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins. Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density.

Subunit / interactions. Self-associates. Interacts with SP1 in an oxidative stress-regulated manner. Interacts with SIGMAR1 in an oxidative stress-regulated manner. Interacts with ZBTB16 (via C2H2-type zinc finger domains 1 and 2).

Subcellular location. Membrane. Cytoplasm. Nucleus. Nuclear body. Nucleoplasm. Endosome. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle. Postsynaptic density. Perikaryon. Cell projection. Neuron projection.

Tissue specificity. Predominantly expressed in brain. Decreased expression in glioma brain tumors as compared to normal brains (at protein level).

Post-translational modifications. Auto-ubiquitinated.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q9ULX5-11yes
Q9ULX5-22

RefSeq proteins (1): NP_009079* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001841Znf_RINGDomain
IPR013083Znf_RING/FYVE/PHDHomologous_superfamily
IPR015894Guanylate-bd_NDomain
IPR018957Znf_C3HC4_RING-typeDomain
IPR027417P-loop_NTPaseHomologous_superfamily
IPR030386G_GB1_RHD3_domDomain

Pfam: PF00097, PF02263

UniProt features (8 total): transmembrane region 2, chain 1, domain 1, zinc finger region 1, region of interest 1, binding site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9ULX5-F170.040.35

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 318–319

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): SASAI_TARGETS_OF_CXCR6_AND_PTCH1_UP, SP3_Q3, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, BEIER_GLIOMA_STEM_CELL_DN, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GATA6_01, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (12): endoplasmic reticulum organization (GO:0007029), neuron differentiation (GO:0030182), response to hydroperoxide (GO:0033194), positive regulation of neuron differentiation (GO:0045666), positive regulation of glial cell differentiation (GO:0045687), protein homooligomerization (GO:0051260), regulation of cell cycle (GO:0051726), protein autoubiquitination (GO:0051865), G1 to G0 transition involved in cell differentiation (GO:0070315), embryonic brain development (GO:1990403), nervous system development (GO:0007399), protein ubiquitination (GO:0016567)

GO Molecular Function (8): GTPase activity (GO:0003924), GTP binding (GO:0005525), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (14): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endosome (GO:0005768), synaptic vesicle (GO:0008021), postsynaptic density (GO:0014069), membrane (GO:0016020), nuclear body (GO:0016604), neuron projection (GO:0043005), perikaryon (GO:0043204), cell body (GO:0044297), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure6
cell differentiation2
organelle organization1
endomembrane system organization1
generation of neurons1
response to oxidative stress1
response to oxygen-containing compound1
neuron differentiation1
positive regulation of cell differentiation1
regulation of neuron differentiation1
glial cell differentiation1
positive regulation of gliogenesis1
regulation of glial cell differentiation1
protein complex oligomerization1
cell cycle1
regulation of cellular process1
protein ubiquitination1
G1 to G0 transition1
embryonic organ development1
system development1
protein modification by small protein conjugation1
ribonucleoside triphosphate phosphatase activity1
guanyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
transition metal ion binding1
ubiquitin-protein transferase activity1
ubiquitin-like protein ligase activity1
nucleoside phosphate binding1
heterocyclic compound binding1
binding1
catalytic activity1
cation binding1
intracellular membrane-bounded organelle1
nuclear lumen1
intracellular anatomical structure1
endomembrane system1
cytoplasmic vesicle1
exocytic vesicle1
presynapse1
asymmetric synapse1

Protein interactions and networks

STRING

1992 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
RNF112STX2P32856666
RNF112STX1AQ16623595
RNF112ST8SIA2Q92186583
RNF112PHGDHO43175570
RNF112LLGL1Q15334568
RNF112PPP1R12CQ9BZL4505
RNF112RHBDD3Q9Y3P4448
RNF112ARF1P10947436
RNF112CREMQ03060429
RNF112CD226Q15762428
RNF112PMCHP20382419
RNF112TOMM20Q15388419
RNF112EPN2O95208415
RNF112SEC61BP38390400
RNF112H2BC21Q16778398

IntAct

109 interactions, top by confidence:

ABTypeScore
RNF112A2Mpsi-mi:“MI:0915”(physical association)0.560
RNF112APPpsi-mi:“MI:0915”(physical association)0.560
RNF112DBHpsi-mi:“MI:0915”(physical association)0.560
RNF112DCTN1psi-mi:“MI:0915”(physical association)0.560
RNF112psi-mi:“MI:0915”(physical association)0.560
RNF112ELAVL4psi-mi:“MI:0915”(physical association)0.560
RNF112GRNpsi-mi:“MI:0915”(physical association)0.560
RNF112MECP2psi-mi:“MI:0915”(physical association)0.560
RNF112NDUFV2psi-mi:“MI:0915”(physical association)0.560
RNF112PRKNpsi-mi:“MI:0915”(physical association)0.560
RNF112PHYHpsi-mi:“MI:0915”(physical association)0.560
RNF112PMP22psi-mi:“MI:0915”(physical association)0.560
RNF112PRPHpsi-mi:“MI:0915”(physical association)0.560
RNF112PSEN1psi-mi:“MI:0915”(physical association)0.560
RNF112UCHL1psi-mi:“MI:0915”(physical association)0.560
RNF112OPTNpsi-mi:“MI:0915”(physical association)0.560
RNF112PARK7psi-mi:“MI:0915”(physical association)0.560
RNF112RNF11psi-mi:“MI:0915”(physical association)0.560
PEX26RNF112psi-mi:“MI:0915”(physical association)0.560
SOD1RNF112psi-mi:“MI:0915”(physical association)0.560
APPRNF112psi-mi:“MI:0915”(physical association)0.560
SNCARNF112psi-mi:“MI:0915”(physical association)0.560
HTTRNF112psi-mi:“MI:0915”(physical association)0.560

BioGRID (778): RNF112 (Affinity Capture-MS), RNF112 (Affinity Capture-MS), RNF112 (Affinity Capture-Western), FOXM1 (Affinity Capture-Western), RNF112 (Affinity Capture-Western), RNF112 (Reconstituted Complex), PRRC2A (Affinity Capture-MS), RNF112 (Affinity Capture-MS), TCOF1 (Affinity Capture-MS), NAT10 (Affinity Capture-MS), PRRC2C (Affinity Capture-MS), DDX41 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), GTPBP4 (Affinity Capture-MS), GNL3 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

Diamond homologs: A0A3B3IT33, A0JN74, A4QPC6, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, A6NLU0, B1H278, B6VQ60, C9J1S8, D4ABM4, F6ZQ54, F8VTS6, I1YAP6, O00478, O00481, O15344, O70583, O75677, O75678, O75679, O76064, P0CI25, P0CI26, P18892, P19474, P82458, P86448, P86449, Q02398, Q03605, Q13410, Q14258, Q1L5Z9, Q1XHT8, Q2HJ46, Q2T9Z0, Q3TL54

SIGNOR signaling

1 interactions.

AEffectBMechanism
Ub:E2“up-regulates activity”RNF112ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
adult locomotory behavior678.5×6e-08
negative regulation of neuron apoptotic process733.7×3e-07
negative regulation of gene expression618.0×7e-05
positive regulation of apoptotic process512.3×1e-03
positive regulation of gene expression58.4×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance64
Likely benign3
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1823 predictions. Top by Δscore:

VariantEffectΔscore
17:19411487:G:GTdonor_gain1.0000
17:19411487:G:Tdonor_gain1.0000
17:19411492:A:Tdonor_gain1.0000
17:19411628:A:Gacceptor_gain1.0000
17:19411667:GTTG:Gdonor_gain1.0000
17:19411668:TTG:Tdonor_gain1.0000
17:19411671:G:GAdonor_loss1.0000
17:19411671:G:GGdonor_gain1.0000
17:19411672:T:Gdonor_loss1.0000
17:19412493:CACA:Cacceptor_loss1.0000
17:19412495:CAGGT:Cacceptor_loss1.0000
17:19412930:T:TAacceptor_gain1.0000
17:19413099:G:GTdonor_gain1.0000
17:19413275:TGCAG:Tacceptor_loss1.0000
17:19413277:CA:Cacceptor_loss1.0000
17:19413278:A:AGacceptor_gain1.0000
17:19413278:A:ATacceptor_loss1.0000
17:19413278:AG:Aacceptor_gain1.0000
17:19413279:G:GCacceptor_gain1.0000
17:19413279:GG:Gacceptor_gain1.0000
17:19413279:GGA:Gacceptor_gain1.0000
17:19413279:GGAGT:Gacceptor_gain1.0000
17:19413405:G:Tdonor_gain1.0000
17:19413409:AAG:Adonor_loss1.0000
17:19413411:GGT:Gdonor_loss1.0000
17:19413412:G:GCdonor_loss1.0000
17:19413413:T:Adonor_loss1.0000
17:19414086:T:Aacceptor_gain1.0000
17:19414092:CAG:Cacceptor_loss1.0000
17:19414093:A:AGacceptor_gain1.0000

AlphaMissense

4092 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:19413062:T:AV169D0.996
17:19413587:T:CF244S0.996
17:19415943:G:AG555E0.996
17:19415979:G:AG567D0.996
17:19416006:C:AA576D0.996
17:19413670:A:CS272R0.995
17:19413672:C:AS272R0.995
17:19413672:C:GS272R0.995
17:19415906:T:CF543L0.995
17:19415908:C:AF543L0.995
17:19415908:C:GF543L0.995
17:19415985:G:AG569D0.995
17:19416027:C:AA583D0.995
17:19416039:C:AA587D0.995
17:19415181:G:TG424W0.994
17:19415182:G:AG424E0.994
17:19415894:T:GY539D0.994
17:19415922:C:AA548D0.994
17:19415957:G:CG560R0.994
17:19415967:G:AG563E0.994
17:19415982:C:AA568D0.994
17:19415997:C:AA573D0.994
17:19415942:G:AG555R0.993
17:19415942:G:CG555R0.993
17:19416030:C:AA584D0.993
17:19416044:G:AG589R0.993
17:19416044:G:CG589R0.993
17:19416045:G:AG589E0.993
17:19416066:T:AV596D0.993
17:19412640:T:CC80R0.992

dbSNP variants (sampled 300 via entrez): RS1000072294 (17:19416876 T>C), RS1000143734 (17:19415473 G>C,T), RS1000529770 (17:19416614 A>G,T), RS1000612547 (17:19413253 T>C), RS1001299652 (17:19413686 TG>T,TGG), RS1001411805 (17:19411286 G>A,T), RS1002231180 (17:19417404 G>C), RS1002606519 (17:19416991 C>T), RS1002858033 (17:19416764 T>G), RS1003418593 (17:19414337 A>C,G), RS1003441007 (17:19411200 G>A), RS1003878636 (17:19414005 G>A), RS1003939733 (17:19415863 G>A,T), RS1003970753 (17:19416272 C>A,T), RS1004651370 (17:19416405 G>A)

Disease associations

OMIM: gene MIM:601237 | 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

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

ChemicalActions (top 5)PubMed papers
Silicon Dioxidedecreases expression, increases expression2
aristolochic acid Iincreases expression1
triphenyl phosphateaffects expression1
ethyl-p-hydroxybenzoatedecreases expression1
sulforaphaneincreases expression1
beta-methylcholineaffects expression1
tebuconazoleincreases expression1
(+)-JQ1 compounddecreases expression1
Temozolomidedecreases expression1
Benzo(a)pyreneaffects methylation1
Citrullinedecreases expression1
Dexamethasonedecreases expression1
Diethylhexyl Phthalatedecreases expression1
Polychlorinated Biphenylsaffects expression1
Testosteroneincreases expression1
Tobacco Smoke Pollutionincreases expression1
Valproic Acidincreases methylation1
1-Methyl-4-phenylpyridiniumincreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.