RNF32

Summary

RNF32 (ring finger protein 32, HGNC:17118) is a protein-coding gene on chromosome 7q36.3, encoding RING finger protein 32 (Q9H0A6). May play a role in sperm formation.

The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 140545 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 22 total
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_030936

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17118
Approved symbol	RNF32
Name	ring finger protein 32
Location	7q36.3
Locus type	gene with protein product
Status	Approved
Aliases	FKSG33, HSD15, LMBR2
Ensembl gene	ENSG00000105982
Ensembl biotype	protein_coding
OMIM	610241
Entrez	140545

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 18 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000311822, ENST00000317955, ENST00000392741, ENST00000392743, ENST00000392747, ENST00000404282, ENST00000405335, ENST00000432459, ENST00000439609, ENST00000463028, ENST00000469382, ENST00000472537, ENST00000480011, ENST00000493999, ENST00000886327, ENST00000886328, ENST00000886329, ENST00000886330, ENST00000886331, ENST00000886332, ENST00000886333, ENST00000886334, ENST00000972044, ENST00000972045

RefSeq mRNA: 5 — MANE Select: NM_030936 NM_001184996, NM_001184997, NM_001308273, NM_001308274, NM_030936

CCDS: CCDS5944, CCDS78292, CCDS78293

Canonical transcript exons

ENST00000317955 — 9 exons

Exon	Start	End
ENSE00001346774	156640774	156640811
ENSE00003461428	156658462	156658570
ENSE00003477849	156658128	156658252
ENSE00003485634	156643801	156643892
ENSE00003493996	156644499	156644757
ENSE00003524487	156654576	156654718
ENSE00003535407	156657541	156657573
ENSE00003555739	156676419	156677130
ENSE00003634462	156675696	156675863

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 95.84.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6648 / max 136.2277, expressed in 788 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82267	0.7696	407
82266	0.4993	218
82265	0.2330	97
82268	0.1581	62
82269	0.0048	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.84	gold quality
right testis	UBERON:0004534	95.31	gold quality
sperm	CL:0000019	94.37	gold quality
testis	UBERON:0000473	92.89	gold quality
male germ cell	CL:0000015	92.13	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.72	gold quality
adult organism	UBERON:0007023	78.48	gold quality
bronchial epithelial cell	CL:0002328	78.27	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	75.21	gold quality
right uterine tube	UBERON:0001302	74.85	gold quality
epithelium of bronchus	UBERON:0002031	73.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.11	gold quality
spinal cord	UBERON:0002240	72.37	gold quality
bronchus	UBERON:0002185	72.09	gold quality
islet of Langerhans	UBERON:0000006	72.03	gold quality
cortical plate	UBERON:0005343	72.02	gold quality
left adrenal gland cortex	UBERON:0035825	71.15	gold quality
body of stomach	UBERON:0001161	70.95	gold quality
right lung	UBERON:0002167	70.66	gold quality
left adrenal gland	UBERON:0001234	70.38	gold quality
body of pancreas	UBERON:0001150	70.35	gold quality
right adrenal gland	UBERON:0001233	69.92	gold quality
adrenal tissue	UBERON:0018303	69.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.72	gold quality
prefrontal cortex	UBERON:0000451	69.71	gold quality
metanephros cortex	UBERON:0010533	69.66	gold quality
pancreas	UBERON:0001264	69.57	gold quality
right adrenal gland cortex	UBERON:0035827	69.51	gold quality
anterior cingulate cortex	UBERON:0009835	69.45	gold quality
amygdala	UBERON:0001876	69.42	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6386	no	75.38
E-ENAD-17	no	41.87
E-ANND-3	no	3.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting RNF32, 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-9983-3P	99.94	71.48	3631
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-155-3P	99.03	67.99	924
HSA-MIR-1295B-5P	99.03	67.50	810
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-4786-5P	97.45	67.89	924
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-4433B-3P	97.22	63.62	663
HSA-MIR-6802-5P	94.94	65.95	366

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 1)

• molecular cloning of a RING domain protein expressed during sperm formation (PMID:11890671)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf32	ENSDARG00000060035
mus_musculus	Rnf32	ENSMUSG00000029130
rattus_norvegicus	Rnf32	ENSRNOG00000005691

Protein

Protein identifiers

RING finger protein 32 — Q9H0A6 (reviewed: Q9H0A6)

All UniProt accessions (4): Q9H0A6, C9JXI4, E9PES2, G5E940

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in sperm formation.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in testis, less abundant in ovary.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9H0A6-1	1	yes
Q9H0A6-2	2
Q9H0A6-4	3
Q9H0A6-5	4
Q9H0A6-6	5

RefSeq proteins (5): NP_001171925, NP_001171926, NP_001295202, NP_001295203, NP_112198* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR027370	Znf-RING_euk	Domain
IPR042862	RNF32	Family

Pfam: PF00612, PF13445, PF13639

UniProt features (14 total): splice variant 6, sequence variant 3, zinc finger region 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H0A6-F1	79.81	0.47

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): TGCGCANK_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, GOCC_AGGRESOME, NUYTTEN_EZH2_TARGETS_DN, GOCC_INCLUSION_BODY, GAVIN_FOXP3_TARGETS_CLUSTER_P7, ZHAN_MULTIPLE_MYELOMA_MS_UP, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_6, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, CREB3L4_TARGET_GENES, FOXD2_TARGET_GENES, GLI3_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): endosome (GO:0005768), cytosol (GO:0005829), aggresome (GO:0016235), nuclear body (GO:0016604), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
transition metal ion binding	1
binding	1
cation binding	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
inclusion body	1
nucleoplasm	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

490 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF32	LMBR1	Q8WVP7	796
RNF32	NOM1	Q5C9Z4	775
RNF32	RBM33	Q96EV2	655
RNF32	UBE3C	Q15386	551
RNF32	LZTS3	O60299	520
RNF32	MNX1	P50219	518
RNF32	ACSM1	Q08AH1	517
RNF32	DLD	P09622	492
RNF32	ABT1	Q9ULW3	469
RNF32	SHH	Q15465	453
RNF32	BLTP2	Q14667	406
RNF32	LRRC72	A6NJI9	405
RNF32	DNAJB6	O75190	384
RNF32	CSTL1	Q9H114	373
RNF32	ZP2	Q05996	373

IntAct

38 interactions, top by confidence:

A	B	Type	Score
RNF32	FBXL12	psi-mi:“MI:0407”(direct interaction)	0.530
PRAM1	RNF32	psi-mi:“MI:0407”(direct interaction)	0.530
RNF32	STAMBPL1	psi-mi:“MI:0407”(direct interaction)	0.530
RNF32	FBXL12	psi-mi:“MI:0915”(physical association)	0.530
PRAM1	RNF32	psi-mi:“MI:0915”(physical association)	0.530
RNF32	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.530
RNF32	HNRNPDL	psi-mi:“MI:0915”(physical association)	0.400
RNF32	H1-4	psi-mi:“MI:0915”(physical association)	0.400
RNF32	IGLC2	psi-mi:“MI:0915”(physical association)	0.400
RNF32	HIP2	psi-mi:“MI:0915”(physical association)	0.370
RNF32	A2M	psi-mi:“MI:0915”(physical association)	0.370
RNF32	CDC37	psi-mi:“MI:0915”(physical association)	0.370
NOS3	RNF32	psi-mi:“MI:0915”(physical association)	0.370
RNF32	PSEN2	psi-mi:“MI:0915”(physical association)	0.370
APP	RNF32	psi-mi:“MI:0915”(physical association)	0.370
APOE	RNF32	psi-mi:“MI:0915”(physical association)	0.370
BLMH	RNF32	psi-mi:“MI:0915”(physical association)	0.370
CDK5	RNF32	psi-mi:“MI:0915”(physical association)	0.370
ECSIT	RNF32	psi-mi:“MI:0915”(physical association)	0.370
ELAVL3	RNF32	psi-mi:“MI:0915”(physical association)	0.370
EXOSC1	RNF32	psi-mi:“MI:0915”(physical association)	0.370
RNF32	GCDH	psi-mi:“MI:0915”(physical association)	0.370
RNF32	IFIT5	psi-mi:“MI:0915”(physical association)	0.370
LONP1	RNF32	psi-mi:“MI:0915”(physical association)	0.370
RNF32	OGA	psi-mi:“MI:0915”(physical association)	0.370
RNF32	PRDX2	psi-mi:“MI:0915”(physical association)	0.370
RNF32	RAD23A	psi-mi:“MI:0915”(physical association)	0.370
LZTS2	RNF32	psi-mi:“MI:0915”(physical association)	0.370
FBXW4	RNF32	psi-mi:“MI:0915”(physical association)	0.370
RNF32	CYP2C9	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (52): RNF32 (Reconstituted Complex), RNF32 (Proximity Label-MS), RNF32 (Proximity Label-MS), RNF32 (Affinity Capture-MS), IGLC2 (Affinity Capture-MS), RNF32 (Reconstituted Complex), RNF32 (Two-hybrid), APP (Reconstituted Complex), RNF32 (Two-hybrid), RNF32 (Two-hybrid), RNF32 (Two-hybrid), RNF32 (Two-hybrid), APP (Two-hybrid), APOE (Two-hybrid), BLMH (Two-hybrid)

ESM2 similar proteins: A6QQJ8, A9JTG5, B0F0H3, D3YY23, E0X9N4, E6ZIJ1, E9QAM5, O14976, P39428, P97874, Q13064, Q13077, Q17RB8, Q1L5Z9, Q1L8G6, Q1LXR6, Q2TA39, Q4R5T4, Q5FWT8, Q5NU13, Q5R7G8, Q5REG4, Q5T124, Q5ZA07, Q60764, Q6AXL8, Q6GLD9, Q6IDS6, Q6NZR5, Q76LS9, Q80V91, Q8IZP6, Q8K1S6, Q8N5J2, Q8N9I9, Q8R512, Q8WWL2, Q99KY4, Q9CQR5, Q9D572

Diamond homologs: Q4R5T4, Q94AK4, Q9H0A6, Q9JIT1, Q9FGI1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF32	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2087 predictions. Top by Δscore:

Variant	Effect	Δscore
7:156644758:GT:G	donor_loss	1.0000
7:156644759:T:TC	donor_loss	1.0000
7:156657652:GCTCC:G	donor_gain	1.0000
7:156675861:CAGG:C	donor_loss	1.0000
7:156675864:GT:G	donor_loss	1.0000
7:156675865:T:A	donor_loss	1.0000
7:156640830:G:T	donor_gain	0.9900
7:156640835:G:T	donor_gain	0.9900
7:156640840:A:T	donor_gain	0.9900
7:156644497:AG:A	acceptor_gain	0.9900
7:156644498:GG:G	acceptor_gain	0.9900
7:156644756:GG:G	donor_gain	0.9900
7:156644757:GG:G	donor_gain	0.9900
7:156644758:G:GG	donor_gain	0.9900
7:156654734:GG:G	donor_gain	0.9900
7:156654735:GG:G	donor_gain	0.9900
7:156655148:G:GG	donor_gain	0.9900
7:156675694:A:AG	acceptor_gain	0.9900
7:156675695:G:GG	acceptor_gain	0.9900
7:156640818:A:T	donor_gain	0.9800
7:156640943:GCT:G	donor_gain	0.9800
7:156654695:G:GT	donor_gain	0.9800
7:156655059:T:G	donor_gain	0.9800
7:156658544:T:G	donor_gain	0.9800
7:156675692:TCA:T	acceptor_loss	0.9800
7:156675695:G:GA	acceptor_loss	0.9800
7:156640830:G:GT	donor_gain	0.9700
7:156644493:TTTTA:T	acceptor_loss	0.9700
7:156644494:TTTAG:T	acceptor_loss	0.9700
7:156644495:TTA:T	acceptor_loss	0.9700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000084089 (7:156655188 T>C), RS1000198825 (7:156667919 C>T), RS1000282111 (7:156667347 T>C), RS1000291425 (7:156667613 A>G), RS1000311672 (7:156639803 G>A), RS1000326058 (7:156661763 G>A), RS1000351832 (7:156655428 T>C), RS1000461957 (7:156661468 C>T), RS1000476901 (7:156672461 A>G), RS1000532362 (7:156676826 A>G), RS1000575566 (7:156672249 G>A), RS1000620344 (7:156665967 A>G), RS1000804997 (7:156660352 C>G,T), RS1000846412 (7:156638850 T>C), RS1000888263 (7:156676905 G>A,C)

Disease associations

OMIM: gene MIM:610241 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003372_34	Glomerular filtration rate (creatinine)	1.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression	1
bisphenol A	decreases expression	1
trichostatin A	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	affects acetylation, affects methylation	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	affects methylation, affects acetylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Folic Acid	decreases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	decreases expression	1
Mercuric Chloride	increases expression, affects cotreatment	1
Smoke	increases abundance, increases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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