MROH5

Summary

MROH5 (maestro heat like repeat family member 5 (gene/pseudogene), HGNC:42976) is a protein-coding gene on chromosome 8q24.3, encoding Maestro heat-like repeat family member 5 (Q6ZUA9).

Predicted to be active in cytoplasm.

Source: NCBI Gene 389690 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 255 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:42976
Approved symbol	MROH5
Name	maestro heat like repeat family member 5 (gene/pseudogene)
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ43860
Ensembl gene	ENSG00000226807
Ensembl biotype	protein_coding
Entrez	389690

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 nonsense_mediated_decay, 1 protein_coding_LoF, 1 retained_intron

ENST00000430863, ENST00000521053, ENST00000521161, ENST00000523857

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000430863 — 30 exons

Exon	Start	End
ENSE00001600839	141507070	141507230
ENSE00001802785	141433832	141434058
ENSE00003464932	141479207	141479326
ENSE00003465561	141480341	141480448
ENSE00003465990	141441636	141441779
ENSE00003510332	141441143	141441257
ENSE00003517190	141496320	141496501
ENSE00003550330	141478619	141478765
ENSE00003554423	141436686	141436862
ENSE00003554874	141472850	141472954
ENSE00003557318	141475925	141476147
ENSE00003558146	141435913	141436068
ENSE00003588077	141440226	141440369
ENSE00003589258	141494809	141494937
ENSE00003595891	141490117	141490276
ENSE00003597275	141474132	141474227
ENSE00003600945	141471056	141471191
ENSE00003621174	141434551	141434625
ENSE00003622848	141467399	141467548
ENSE00003624476	141477776	141477898
ENSE00003631399	141435127	141435249
ENSE00003632191	141470597	141470763
ENSE00003640754	141434824	141434926
ENSE00003641323	141466409	141466563
ENSE00003652916	141495338	141495483
ENSE00003653603	141479910	141480026
ENSE00003659069	141488551	141488603
ENSE00003672201	141447907	141448088
ENSE00003673697	141449590	141449749
ENSE00003678654	141477403	141477482

Expression profiles

Bgee: expression breadth broad, 91 present calls, max score 88.46.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0140 / max 17.1412, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95393	0.0140	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	88.46	gold quality
thymus	UBERON:0002370	87.97	gold quality
quadriceps femoris	UBERON:0001377	86.25	gold quality
cerebellar vermis	UBERON:0004720	85.01	gold quality
trachea	UBERON:0003126	83.49	gold quality
metanephric glomerulus	UBERON:0004736	83.00	gold quality
epithelium of bronchus	UBERON:0002031	82.61	gold quality
dorsal plus ventral thalamus	UBERON:0001897	81.96	gold quality
dorsal root ganglion	UBERON:0000044	81.33	gold quality
frontal pole	UBERON:0002795	80.35	gold quality
endometrium epithelium	UBERON:0004811	80.19	gold quality
paraflocculus	UBERON:0005351	80.00	gold quality
middle frontal gyrus	UBERON:0002702	79.15	gold quality
Brodmann (1909) area 10	UBERON:0013541	78.70	gold quality
layer of synovial tissue	UBERON:0007616	74.36	gold quality
left testis	UBERON:0004533	72.72	gold quality
right testis	UBERON:0004534	72.37	gold quality
testis	UBERON:0000473	72.04	gold quality
mucosa of stomach	UBERON:0001199	60.59	gold quality
skeletal muscle tissue	UBERON:0001134	57.77	gold quality
apex of heart	UBERON:0002098	57.17	gold quality
muscle of leg	UBERON:0001383	55.85	gold quality
heart left ventricle	UBERON:0002084	55.81	gold quality
gastrocnemius	UBERON:0001388	55.51	gold quality
sural nerve	UBERON:0015488	54.36	gold quality
muscle tissue	UBERON:0002385	53.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	52.10	gold quality
heart	UBERON:0000948	51.52	gold quality
left uterine tube	UBERON:0001303	50.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	50.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting MROH5, 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-6870-5P	99.99	68.55	2115
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-7161-3P	96.79	68.79	798
HSA-MIR-8071	95.69	64.93	484

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mroh5	ENSMUSG00000072487
rattus_norvegicus	Mroh5	ENSRNOG00000032827

Paralogs (8): MROH8 (ENSG00000101353), MROH9 (ENSG00000117501), MRO (ENSG00000134042), MROH2B (ENSG00000171495), MROH1 (ENSG00000179832), MROH7 (ENSG00000184313), MROH2A (ENSG00000185038), MROH6 (ENSG00000204839)

Protein

Protein identifiers

Maestro heat-like repeat family member 5 — Q6ZUA9 (reviewed: Q6ZUA9)

All UniProt accessions (1): E5RFU7

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR045206	Maestro_heat-like_prot	Family
IPR048465	Maestro-like_HEAT	Domain
IPR055406	HEAT_Maestro	Domain
IPR055408	HEAT_MROH2B-like	Domain
IPR056282	MROH2B-like_N_HEAT	Domain

Pfam: PF21047, PF23210, PF23221, PF23227

UniProt features (23 total): sequence conflict 10, repeat 9, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZUA9-F1	75.90	0.15

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 11 (showing top): YAGI_AML_WITH_INV_16_TRANSLOCATION, TGACCTY_ERR1_Q2, ATF1_Q6, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, ER_Q6_02, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, chr8q24, RAPA_EARLY_UP.V1_DN, MIR3688_3P, MIR328_5P, ZNF320_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

BioGRID (2): MROH5 (Affinity Capture-MS), MROH5 (Two-hybrid)

ESM2 similar proteins: A0A0M3U1B0, A1A5Q6, A2AFS9, A2AVR2, A2CI98, A2CJ06, A2RTY3, A2RUW0, O70167, O70173, P0C2Y1, P15304, P59729, Q08EC4, Q3SYK4, Q3TYG6, Q3U1D0, Q4R744, Q4R9E9, Q5R4B2, Q5T4T6, Q5TGP6, Q5VWK0, Q68CQ1, Q6AYJ3, Q6IFT4, Q6IRU7, Q6REY9, Q6ZUA9, Q7Z572, Q80VH0, Q86WZ0, Q86XG9, Q8C0X8, Q8CCC3, Q8ND61, Q8NDZ2, Q8TB24, Q96M43, Q96QP1

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	216
Likely benign	26
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

6174 predictions. Top by Δscore:

Variant	Effect	Δscore
8:141434549:A:AC	donor_gain	1.0000
8:141434550:C:CC	donor_gain	1.0000
8:141434550:CTG:C	donor_gain	1.0000
8:141435122:CTCA:C	donor_loss	1.0000
8:141435123:TCA:T	donor_loss	1.0000
8:141435124:CAC:C	donor_loss	1.0000
8:141435125:A:AC	donor_gain	1.0000
8:141435125:ACCA:A	donor_loss	1.0000
8:141435126:C:CC	donor_gain	1.0000
8:141435126:CCAGG:C	donor_gain	1.0000
8:141435246:CCTG:C	acceptor_loss	1.0000
8:141435249:GCTGC:G	acceptor_loss	1.0000
8:141435250:C:CC	acceptor_gain	1.0000
8:141435251:T:G	acceptor_loss	1.0000
8:141436068:CCT:C	acceptor_loss	1.0000
8:141436069:C:CA	acceptor_loss	1.0000
8:141436684:A:AC	donor_gain	1.0000
8:141436685:C:CC	donor_gain	1.0000
8:141436685:CGT:C	donor_gain	1.0000
8:141436687:T:TA	donor_gain	1.0000
8:141436734:C:CA	donor_gain	1.0000
8:141447901:TCTTA:T	donor_loss	1.0000
8:141447902:CTTA:C	donor_loss	1.0000
8:141447903:TTA:T	donor_loss	1.0000
8:141447904:TA:T	donor_loss	1.0000
8:141449588:A:AC	donor_gain	1.0000
8:141449588:ACAG:A	donor_gain	1.0000
8:141449589:C:CC	donor_gain	1.0000
8:141449589:CAG:C	donor_gain	1.0000
8:141449589:CAGC:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000012514 (8:141447163 G>A,C), RS1000092890 (8:141484742 C>A), RS1000102638 (8:141506733 C>A), RS1000194526 (8:141473956 C>G,T), RS1000229646 (8:141499711 C>G,T), RS1000259166 (8:141499499 T>C), RS1000307947 (8:141477041 C>A,G), RS1000333013 (8:141433586 C>G,T), RS1000418021 (8:141503240 A>G), RS1000478050 (8:141485744 G>A), RS1000565188 (8:141501123 T>A), RS1000596616 (8:141500691 T>A), RS1000600599 (8:141466042 C>G), RS1000667838 (8:141434621 G>A), RS1000751963 (8:141435470 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

9 associations (top):

Study	Trait	p-value
GCST001585_21	Breast size	5.000000e-06
GCST001762_673	Obesity-related traits	6.000000e-06
GCST002097_16	Coronary artery calcification	8.000000e-06
GCST003059_13	Parkinson’s disease	1.000000e-06
GCST006218_99	Erosive tooth wear (severe vs non-severe)	1.000000e-06
GCST006226_1	Erosive tooth wear (severe vs none or mild)	5.000000e-06
GCST007059_16	Response to antidepressants (symptom improvement)	3.000000e-06
GCST007556_4	Autism spectrum disorder	4.000000e-06
GCST009600_10	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005119	antioxidant measurement
EFO:0004723	coronary artery calcification

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation	2
bisphenol A	increases methylation, affects methylation, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
hydroquinone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Methapyrilene	increases methylation	1
Plant Extracts	decreases expression, affects cotreatment	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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