MRO

Summary

MRO (maestro, HGNC:24121) is a protein-coding gene on chromosome 18q21.2, encoding Protein maestro (Q9BYG7).

This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 83876 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_031939

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24121
Approved symbol	MRO
Name	maestro
Location	18q21.2
Locus type	gene with protein product
Status	Approved
Aliases	B29, FLJ30140
Ensembl gene	ENSG00000134042
Ensembl biotype	protein_coding
OMIM	608080
Entrez	83876

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000256425, ENST00000398439, ENST00000428869, ENST00000431965, ENST00000436348, ENST00000585524, ENST00000587291, ENST00000588444, ENST00000590988, ENST00000592966, ENST00000885778, ENST00000885779, ENST00000885780, ENST00000885781, ENST00000885782, ENST00000885783, ENST00000885784, ENST00000885785, ENST00000936389

RefSeq mRNA: 8 — MANE Select: NM_031939 NM_001127174, NM_001127175, NM_001127176, NM_001369508, NM_001369510, NM_001369511, NM_001369515, NM_031939

CCDS: CCDS11947, CCDS45867, CCDS45868, CCDS45869

Canonical transcript exons

ENST00000398439 — 8 exons

Exon	Start	End
ENSE00003489831	50819581	50819702
ENSE00003490820	50809302	50809404
ENSE00003499608	50801349	50801504
ENSE00003520047	50805154	50805336
ENSE00003609005	50806704	50806850
ENSE00003654223	50795130	50799390
ENSE00003686982	50819897	50820016
ENSE00003790780	50800036	50800143

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 98.47.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7074 / max 140.7385, expressed in 223 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171955	0.7545	166
171956	0.4133	137
171958	0.2372	95
171960	0.1936	8
171959	0.0689	47
171957	0.0399	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	98.47	gold quality
globus pallidus	UBERON:0001875	98.23	gold quality
lateral globus pallidus	UBERON:0002476	97.65	gold quality
kidney epithelium	UBERON:0004819	95.50	gold quality
subthalamic nucleus	UBERON:0001906	94.21	gold quality
superior vestibular nucleus	UBERON:0007227	93.92	gold quality
medulla oblongata	UBERON:0001896	93.86	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.25	gold quality
ventral tegmental area	UBERON:0002691	93.07	gold quality
dorsal plus ventral thalamus	UBERON:0001897	92.96	gold quality
substantia nigra pars compacta	UBERON:0001965	92.92	gold quality
inferior vagus X ganglion	UBERON:0005363	91.81	gold quality
midbrain	UBERON:0001891	91.58	gold quality
putamen	UBERON:0001874	91.52	gold quality
substantia nigra	UBERON:0002038	91.51	gold quality
caudate nucleus	UBERON:0001873	91.35	gold quality
amygdala	UBERON:0001876	91.21	gold quality
nucleus accumbens	UBERON:0001882	90.94	gold quality
temporal lobe	UBERON:0001871	90.36	gold quality
postcentral gyrus	UBERON:0002581	90.22	gold quality
parietal lobe	UBERON:0001872	90.02	gold quality
corpus callosum	UBERON:0002336	89.79	gold quality
lateral nuclear group of thalamus	UBERON:0002736	89.71	gold quality
entorhinal cortex	UBERON:0002728	89.70	gold quality
Ammon’s horn	UBERON:0001954	89.11	gold quality
hypothalamus	UBERON:0001898	89.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.56	gold quality
superior frontal gyrus	UBERON:0002661	88.49	gold quality
spinal cord	UBERON:0002240	88.26	gold quality
pons	UBERON:0000988	87.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

138 targeting MRO, 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-6867-5P	100.00	82.21	3464
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 2)

• The sequence and function of the related mouse gene are described. (PMID:12889070)
• study also shows a punctate nuclear expression pattern and disperse cytoplasmic expression pattern of the MRO protein in human granulosa-cumulus cells and in testicular germ cells, which was later validated by western blotting (PMID:28406912)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mro	ENSMUSG00000064036
rattus_norvegicus	Mro	ENSRNOG00000024426

Paralogs (8): MROH8 (ENSG00000101353), MROH9 (ENSG00000117501), MROH2B (ENSG00000171495), MROH1 (ENSG00000179832), MROH7 (ENSG00000184313), MROH2A (ENSG00000185038), MROH6 (ENSG00000204839), MROH5 (ENSG00000226807)

Protein

Protein identifiers

Protein maestro — Q9BYG7 (reviewed: Q9BYG7)

Alternative names: Male-specific transcription in the developing reproductive organs, Protein B29

All UniProt accessions (4): Q9BYG7, K7EKU2, K7ELT8, K7EPK7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Ubiquitous.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9BYG7-1	1	yes
Q9BYG7-2	2
Q9BYG7-3	3
Q9BYG7-4	4
Q9BYG7-5	5
Q9BYG7-6	6

RefSeq proteins (8): NP_001120646, NP_001120647, NP_001120648, NP_001356437, NP_001356439, NP_001356440, NP_001356444, NP_114145* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR045206	Maestro_heat-like_prot	Family
IPR055406	HEAT_Maestro	Domain

Pfam: PF23227

UniProt features (7 total): splice variant 2, sequence variant 2, chain 1, repeat 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYG7-F1	78.94	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 55 (showing top): GROSS_HIF1A_TARGETS_UP, GOCC_NUCLEOLUS, chr18q21, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, NFE2L2.V2, HES2_TARGET_GENES, MAFG_TARGET_GENES, NFKBIA_TARGET_GENES, RYBP_TARGET_GENES, ZNF2_TARGET_GENES, ZNF282_TARGET_GENES, ZNF322_TARGET_GENES, ZSCAN30_TARGET_GENES, MIR616_5P, MIR371B_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): nucleolus (GO:0005730), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

148 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRO	RAPGEF2	Q9Y4G8	441
MRO	DBX2	Q6ZNG2	437
MRO	CSRP2	Q16527	369
MRO	CSRP1	P21291	366
MRO	HTT	P42858	362
MRO	CBX2	Q14781	339
MRO	MYBL2	P10244	320
MRO	CD79B	P40259	320
MRO	MAPDA	Q6DHV7	302
MRO	ELAC1	Q9H777	290
MRO	HMOX2	P30519	282
MRO	SSR4	P51571	280
MRO	CGNL1	Q0VF96	278
MRO	KLF14	Q8TD94	277
MRO	MROH8	Q9H579	269

IntAct

0 interactions, top by confidence:

BioGRID (1): MRO (Affinity Capture-MS)

ESM2 similar proteins: A6QLK5, A6ZKI3, D2HBJ8, O15519, O94955, O95751, P0CW24, P10272, Q0V9G5, Q17QF6, Q17RB0, Q1JQ94, Q2TBA3, Q5RD56, Q5RER6, Q5XGZ2, Q63053, Q6NTR6, Q6P5G6, Q6SEH4, Q6SEH5, Q70Z35, Q7JV70, Q7K1U0, Q7LC44, Q7TPY9, Q86TG7, Q8AWC3, Q8C1C8, Q8CA95, Q8N165, Q8N635, Q8ND90, Q8QZR7, Q8TCU6, Q8VHZ4, Q8WNV3, Q96PV4, Q9BWD3, Q9BYG7

Diamond homologs: A6NES4, D3Z750, Q58DE2, Q7TNB4, Q8WNV3, Q9BYG7, Q7M6Y6, Q7Z745, Q8NDA8, Q6ZUA9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1463 predictions. Top by Δscore:

Variant	Effect	Δscore
18:50801515:C:CT	acceptor_gain	1.0000
18:50801515:C:T	acceptor_gain	1.0000
18:50806699:CCTA:C	donor_loss	1.0000
18:50806700:CTACC:C	donor_loss	1.0000
18:50806701:TACCT:T	donor_loss	1.0000
18:50800035:CCAG:C	donor_gain	0.9900
18:50801519:A:T	acceptor_gain	0.9900
18:50805152:A:AC	donor_gain	0.9900
18:50805153:C:CC	donor_gain	0.9900
18:50805302:A:T	acceptor_gain	0.9900
18:50805333:TCACC:T	acceptor_loss	0.9900
18:50805335:ACCT:A	acceptor_loss	0.9900
18:50805336:CCTG:C	acceptor_loss	0.9900
18:50805337:CTGT:C	acceptor_loss	0.9900
18:50805338:T:G	acceptor_loss	0.9900
18:50806698:CCCTA:C	donor_loss	0.9900
18:50806849:ACC:A	acceptor_loss	0.9900
18:50806851:C:CA	acceptor_loss	0.9900
18:50806852:T:A	acceptor_loss	0.9900
18:50809328:T:TA	donor_gain	0.9900
18:50809405:C:CC	acceptor_gain	0.9900
18:50817009:T:TA	donor_gain	0.9900
18:50817010:C:A	donor_gain	0.9900
18:50797336:C:CT	acceptor_gain	0.9800
18:50799339:A:AC	donor_gain	0.9800
18:50799340:C:CC	donor_gain	0.9800
18:50801516:A:T	acceptor_gain	0.9800
18:50805153:CGTCA:C	donor_gain	0.9800
18:50805344:C:CT	acceptor_gain	0.9800
18:50806848:GAC:G	acceptor_gain	0.9800

AlphaMissense

1641 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:50805253:A:C	S110R	0.976
18:50805253:A:T	S110R	0.976
18:50805255:T:G	S110R	0.976
18:50801424:A:C	F170L	0.916
18:50801424:A:T	F170L	0.916
18:50801426:A:G	F170L	0.916
18:50801487:T:A	R149S	0.916
18:50801487:T:G	R149S	0.916
18:50801480:C:G	A152P	0.909
18:50801421:G:C	F171L	0.907
18:50801421:G:T	F171L	0.907
18:50801423:A:G	F171L	0.907
18:50801381:G:C	H185D	0.901
18:50801488:C:G	R149T	0.897
18:50799361:G:C	F241L	0.894
18:50799361:G:T	F241L	0.894
18:50799363:A:G	F241L	0.894
18:50805242:A:G	L114P	0.890
18:50801479:G:T	A152D	0.883
18:50801422:A:G	F171S	0.877
18:50800138:G:C	C197W	0.870
18:50801356:A:T	V193D	0.866
18:50801458:A:G	L159S	0.865
18:50801475:A:C	F153L	0.863
18:50801475:A:T	F153L	0.863
18:50801477:A:G	F153L	0.863
18:50801455:G:T	A160D	0.862
18:50801410:A:T	V175D	0.860
18:50806756:C:G	R65P	0.857
18:50800119:A:G	C204R	0.856

dbSNP variants (sampled 300 via entrez): RS1000074929 (18:50824510 A>G), RS1000085219 (18:50815585 G>A), RS1000095672 (18:50806749 C>T), RS1000156753 (18:50807922 T>C), RS1000262207 (18:50825169 C>A), RS1000290078 (18:50825372 G>T), RS1000292119 (18:50821639 C>T), RS1000579041 (18:50821351 T>C), RS1000596539 (18:50823342 G>A), RS1000627738 (18:50823679 G>T), RS1000674530 (18:50826020 T>C), RS1000827607 (18:50816881 A>C,T), RS1000888545 (18:50818312 C>T), RS1001174316 (18:50825057 A>G,T), RS1001226337 (18:50798544 T>A,C)

Disease associations

OMIM: gene MIM:608080 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002875_63	Diisocyanate-induced asthma	1.000000e-06
GCST007096_242	Pulse pressure	4.000000e-12
GCST007097_85	Pulse pressure	9.000000e-06
GCST007099_179	Systolic blood pressure	3.000000e-07
GCST009391_824	Metabolite levels	6.000000e-06
GCST012421_3	Colorectal cancer	8.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0010398	sphingomyelin 24:1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
propionaldehyde	increases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
sulforaphane	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
pentanal	increases expression	1
tebuconazole	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	decreases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation	1
Dronabinol	increases expression	1
Triclosan	increases expression	1
Cyclosporine	decreases expression	1
Levonorgestrel	affects cotreatment, decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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