RNASE12

Summary

RNASE12 (ribonuclease A family member 12 (inactive), HGNC:24211) is a protein-coding gene on chromosome 14q11.2, encoding Probable inactive ribonuclease-like protein 12 (Q5GAN4). Does not exhibit any ribonuclease activity.

Predicted to enable RNA nuclease activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region.

Source: NCBI Gene 493901 — RefSeq curated summary.

At a glance

• Phenotypes (HPO): 201
• MANE Select transcript: NM_001024822

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24211
Approved symbol	RNASE12
Name	ribonuclease A family member 12 (inactive)
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	RAI1
Ensembl gene	ENSG00000258436
Ensembl biotype	protein_coding
Entrez	493901

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000556526, ENST00000696784

RefSeq mRNA: 1 — MANE Select: NM_001024822 NM_001024822

CCDS: CCDS32037

Canonical transcript exons

ENST00000696784 — 2 exons

Exon	Start	End
ENSE00002443134	20590073	20590761
ENSE00003968343	20591259	20591376

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 40.18.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	40.18	gold quality
bone marrow cell	CL:0002092	38.67	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
placenta	UBERON:0001987	34.14	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
testis	UBERON:0000473	28.46	gold quality
liver	UBERON:0002107	28.34	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	27.75	gold quality
right testis	UBERON:0004534	27.73	silver quality
left testis	UBERON:0004533	27.68	silver quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
monocyte	CL:0000576	27.01	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.17	silver quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.98	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting RNASE12, 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-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-572	85.62	59.34	30

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rnase12	ENSMUSG00000068407
rattus_norvegicus	Rnase12	ENSRNOG00000042612

Paralogs (12): RNASE1 (ENSG00000129538), RNASE7 (ENSG00000165799), RNASE2 (ENSG00000169385), RNASE3 (ENSG00000169397), RNASE6 (ENSG00000169413), RNASE8 (ENSG00000173431), RNASE11 (ENSG00000173464), RNASE10 (ENSG00000182545), RNASE9 (ENSG00000188655), RNASE13 (ENSG00000206150), ANG (ENSG00000214274), RNASE4 (ENSG00000258818)

Protein

Protein identifiers

Probable inactive ribonuclease-like protein 12 — Q5GAN4 (reviewed: Q5GAN4)

All UniProt accessions (2): Q5GAN4, W0UV30

UniProt curated annotations — full annotation on UniProt →

Function. Does not exhibit any ribonuclease activity.

Subcellular location. Secreted.

Similarity. Belongs to the pancreatic ribonuclease family.

RefSeq proteins (1): NP_001019993* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001427	RNaseA	Family
IPR023412	RNaseA_domain	Domain
IPR036816	RNaseA-like_dom_sf	Homologous_superfamily

Pfam: PF00074

UniProt features (2 total): signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5GAN4-F1	88.58	0.66

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 547 (showing top): GOBP_CIRCADIAN_RHYTHM, ATF_B, GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOMF_NUCLEASE_ACTIVITY, GOZGIT_ESR1_TARGETS_DN, GOBP_GROWTH, TATTATA_MIR374, CREBP1_Q2, GOBP_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION, CAGCTG_AP4_Q5, ATGTTAA_MIR302C, NFKB_Q6, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH

GO Biological Process (1): defense response to Gram-positive bacterium (GO:0050830)

GO Molecular Function (1): nucleic acid binding (GO:0003676)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response to bacterium	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

158 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNASE12	RNASE11	Q8TAA1	656
RNASE12	C3orf22	Q8N5N4	621
RNASE12	C12orf56	Q8IXR9	582
RNASE12	SMIM17	P0DL12	582
RNASE12	SH2D7	A6NKC9	571
RNASE12	CLPSL1	A2RUU4	570
RNASE12	CC2D2B	Q6DHV5	570
RNASE12	C1orf167	Q5SNV9	570
RNASE12	C22orf42	Q6IC83	569
RNASE12	RNASE8	Q8TDE3	548
RNASE12	ANKRD62	A6NC57	544
RNASE12	SPDYE4	A6NLX3	540
RNASE12	EPCIP	Q9NYP8	540
RNASE12	RD3L	P0DJH9	528
RNASE12	SMIM21	Q3B7S5	507

IntAct

3 interactions, top by confidence:

A	B	Type	Score
RNASE12		psi-mi:“MI:0915”(physical association)	0.560
	RNASE12	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (2): RNASE12 (Affinity Capture-MS), RNASE12 (Two-hybrid)

ESM2 similar proteins: O46525, O46527, O46530, O46531, O46532, O46533, O46534, O55004, P03950, P07998, P08904, P15467, P15468, P21570, P31347, P34096, P61821, P61822, P81649, Q5GAN4, Q5NVS4, Q5VI84, Q64438, Q71MJ0, Q861Y1, Q861Y2, Q861Y3, Q861Y4, Q861Y5, Q8HZQ0, Q8SPN4, Q8SPZ4, Q8SPZ5, Q8SQ04, Q8SQ05, Q8SQ06, Q8SQ07, Q8SQ08, Q8SQ11, Q8SQ12

Diamond homologs: O55004, P00668, P00671, P00672, P00673, P00674, P00676, P00677, P00679, P00680, P00681, P00682, P00683, P00684, P00686, P03950, P04060, P04061, P07998, P10152, P14626, P15467, P15468, P16414, P19644, P24717, P27043, P30374, P34096, P39873, P61821, P61822, P79351, P80287, P81476, P84844, P87350, Q29542, Q29543, Q5GAN4

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

2849 predictions. Top by Δscore:

Variant	Effect	Δscore
17:17803752:TCA:T	acceptor_loss	1.0000
17:17803753:CA:C	acceptor_loss	1.0000
17:17803754:A:AG	acceptor_gain	1.0000
17:17803755:G:A	acceptor_loss	1.0000
17:17803755:G:GG	acceptor_gain	1.0000
17:17803755:GAT:G	acceptor_gain	1.0000
17:17803755:GATGT:G	acceptor_gain	1.0000
17:17803847:CAG:C	donor_loss	1.0000
17:17803848:AGG:A	donor_loss	1.0000
17:17803849:GGTA:G	donor_loss	1.0000
17:17803851:T:A	donor_loss	1.0000
17:17681790:CGAG:C	donor_loss	0.9900
17:17681791:GAGG:G	donor_loss	0.9900
17:17681792:AGGT:A	donor_loss	0.9900
17:17681794:GTG:G	donor_loss	0.9900
17:17746176:A:AG	donor_gain	0.9900
17:17790507:G:GT	donor_gain	0.9900
17:17790508:G:T	donor_gain	0.9900
17:17792931:A:AG	acceptor_gain	0.9900
17:17792932:G:GG	acceptor_gain	0.9900
17:17803750:CATCA:C	acceptor_gain	0.9900
17:17803751:A:AG	acceptor_gain	0.9900
17:17803751:ATCAG:A	acceptor_gain	0.9900
17:17803752:TCAG:T	acceptor_gain	0.9900
17:17803753:CAGA:C	acceptor_gain	0.9900
17:17803754:AGAT:A	acceptor_gain	0.9900
17:17803754:AGATG:A	acceptor_gain	0.9900
17:17803755:GA:G	acceptor_gain	0.9900
17:17803755:GATG:G	acceptor_gain	0.9900
17:17809968:A:AG	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000611591 (14:20592593 C>A), RS1002178212 (14:20589812 G>A), RS1004460271 (14:20592974 A>G), RS1005119991 (14:20592212 G>A,C), RS1006523505 (14:20590238 C>A,T), RS1006568001 (14:20591128 C>T), RS1007597531 (14:20591593 C>A), RS1007938380 (14:20591353 G>A), RS1008524851 (14:20592751 G>A), RS1009016500 (14:20593049 A>G,T), RS1010024702 (14:20590709 C>T), RS1011449537 (14:20591314 A>T), RS1011793488 (14:20591096 G>A), RS1013097011 (14:20591960 G>A), RS10131138 (14:20593008 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

201 total (30 of 201 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000069	Abnormality of the ureter
HP:0000079	Abnormality of the urinary system
HP:0000119	Abnormality of the genitourinary system
HP:0000154	Wide mouth
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000194	Open mouth
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000220	Velopharyngeal insufficiency
HP:0000243	Trigonocephaly
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000272	Malar flattening
HP:0000280	Coarse facial features
HP:0000283	Broad face
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000321	Square face
HP:0000322	Short philtrum
HP:0000325	Triangular face
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000356	Abnormality of the outer ear
HP:0000358	Posteriorly rotated ears

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11868035	RAI1, SREBF1	3	1.00	1	HMG-CoA reductase inhibitors

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	1
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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