MROH8

Summary

MROH8 (maestro heat like repeat family member 8, HGNC:16125) is a protein-coding gene on chromosome 20q11.23, encoding Protein MROH8 (Q9H579).

The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer’s disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 140699 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_152503

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16125
Approved symbol	MROH8
Name	maestro heat like repeat family member 8
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	dJ621N11.4, dJ621N11.3
Ensembl gene	ENSG00000101353
Ensembl biotype	protein_coding
Entrez	140699

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000343811, ENST00000400440, ENST00000421643, ENST00000422138, ENST00000434295, ENST00000466091

RefSeq mRNA: 3 — MANE Select: NM_152503 NM_152503, NM_213631, NM_213632

Canonical transcript exons

ENST00000343811 — 25 exons

Exon	Start	End
ENSE00001642508	37141162	37141314
ENSE00001650973	37158892	37159036
ENSE00001722665	37155063	37155167
ENSE00003636869	37160097	37160176
ENSE00003638675	37171912	37172057
ENSE00003661583	37173995	37174116
ENSE00003670937	37168121	37168243
ENSE00003972712	37143717	37143841
ENSE00003972713	37112324	37112446
ENSE00003972714	37119698	37119838
ENSE00003972715	37102664	37102835
ENSE00003972716	37110256	37110355
ENSE00003972717	37113990	37114145
ENSE00003972718	37115173	37115337
ENSE00003972719	37179389	37179548
ENSE00003972720	37129032	37129167
ENSE00003972721	37179223	37179387
ENSE00003972722	37120504	37120618
ENSE00003972725	37108599	37108664
ENSE00003972726	37137810	37137970
ENSE00003972727	37147774	37147909
ENSE00003972729	37157860	37157955
ENSE00003972731	37120899	37121036
ENSE00003972733	37123609	37123799
ENSE00003972734	37101226	37101418

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 89.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.4468 / max 75.2944, expressed in 1096 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187172	2.2276	1046
187173	0.2192	104

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	89.35	gold quality
left testis	UBERON:0004533	89.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.32	gold quality
testis	UBERON:0000473	87.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.50	gold quality
buccal mucosa cell	CL:0002336	80.12	silver quality
sperm	CL:0000019	79.35	gold quality
bone marrow cell	CL:0002092	79.12	gold quality
muscle of leg	UBERON:0001383	77.78	gold quality
gastrocnemius	UBERON:0001388	77.59	gold quality
apex of heart	UBERON:0002098	76.49	gold quality
cerebellar hemisphere	UBERON:0002245	76.14	gold quality
cerebellar cortex	UBERON:0002129	76.10	gold quality
adenohypophysis	UBERON:0002196	76.01	gold quality
ventricular zone	UBERON:0003053	75.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	75.56	gold quality
pituitary gland	UBERON:0000007	75.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.41	gold quality
stromal cell of endometrium	CL:0002255	75.20	gold quality
right frontal lobe	UBERON:0002810	75.00	gold quality
right lobe of liver	UBERON:0001114	74.87	gold quality
cerebellum	UBERON:0002037	74.64	gold quality
prefrontal cortex	UBERON:0000451	74.60	gold quality
anterior cingulate cortex	UBERON:0009835	74.39	gold quality
right atrium auricular region	UBERON:0006631	74.00	gold quality
hypothalamus	UBERON:0001898	73.44	gold quality
cardiac atrium	UBERON:0002081	73.44	gold quality
nucleus accumbens	UBERON:0001882	73.28	gold quality
sural nerve	UBERON:0015488	72.79	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	8.01
E-ANND-3	no	5.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting MROH8, 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-3120-5P	100.00	65.56	965
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-4463	98.56	66.05	1071
HSA-MIR-10397-5P	97.31	69.06	710
HSA-MIR-216B-5P	97.16	66.76	1126

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mroh8	ENSMUSG00000074627
rattus_norvegicus	Mroh8	ENSRNOG00000007341

Paralogs (8): MROH9 (ENSG00000117501), MRO (ENSG00000134042), MROH2B (ENSG00000171495), MROH1 (ENSG00000179832), MROH7 (ENSG00000184313), MROH2A (ENSG00000185038), MROH6 (ENSG00000204839), MROH5 (ENSG00000226807)

Protein

Protein identifiers

Protein MROH8 — Q9H579 (reviewed: Q9H579)

Alternative names: Maestro heat-like repeat-containing protein family member 8

All UniProt accessions (4): A0A8V8TLF2, A0A8V8TLY2, A0A8V8TN72, Q5JYQ9

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H579-1	1	yes
Q9H579-2	2

RefSeq proteins (3): NP_689716, NP_998796, NP_998797 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016024	ARM-type_fold	Homologous_superfamily
IPR045206	Maestro_heat-like_prot	Family
IPR048465	Maestro-like_HEAT	Domain
IPR055408	HEAT_MROH2B-like	Domain

Pfam: PF21047, PF23210

UniProt features (4 total): splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H579-F1	74.20	0.28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 45 (showing top): chr20q11, DODD_NASOPHARYNGEAL_CARCINOMA_DN, ALKBH3_TARGET_GENES, BARX1_TARGET_GENES, ELF2_TARGET_GENES, FEV_TARGET_GENES, FOXD2_TARGET_GENES, FOXN3_TARGET_GENES, GUCY1B1_TARGET_GENES, PRKDC_TARGET_GENES, CASP8AP2_TARGET_GENES, ZFHX3_TARGET_GENES, ZFP91_TARGET_GENES, ZNF30_TARGET_GENES, ZNF391_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

318 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MROH8	OR9G1	Q8NH87	626
MROH8	NUTM2G	Q5VZR2	507
MROH8	KRTAP9-1	A8MXZ3	505
MROH8	BBOF1	Q8ND07	499
MROH8	UBE3B	Q7Z3V4	494
MROH8	NFS1	Q9Y697	434
MROH8	MCRIP1	C9JLW8	419
MROH8	SHANK3	Q9BYB0	418
MROH8	POLR3F	Q9H1D9	411
MROH8	MTCL2	O94964	390
MROH8	CLEC12B	Q2HXU8	384
MROH8	PLA2G1B	P04054	372
MROH8	METTL21C	Q5VZV1	364
MROH8	ARMC10	Q8N2F6	360
MROH8	AK3	Q9UIJ7	352

IntAct

0 interactions, top by confidence:

BioGRID (5): MROH8 (Affinity Capture-MS), MROH8 (Affinity Capture-MS), MROH8 (Affinity Capture-MS), MROH8 (Affinity Capture-RNA), APP (Reconstituted Complex)

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	7
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

91 predictions. Top by Δscore:

Variant	Effect	Δscore
20:37179365:GCCGG:G	donor_gain	0.9900
20:37179312:G:GT	donor_gain	0.9800
20:37179355:G:GT	donor_gain	0.9800
20:37179356:A:T	donor_gain	0.9800
20:37179366:CCGGG:C	donor_loss	0.9800
20:37179367:CGGGT:C	donor_loss	0.9800
20:37179368:GG:G	donor_gain	0.9800
20:37179369:GG:G	donor_gain	0.9800
20:37179370:G:GG	donor_gain	0.9800
20:37179370:G:T	donor_loss	0.9800
20:37179371:T:C	donor_loss	0.9800
20:37179372:G:GG	donor_loss	0.9600
20:37179375:GAGT:G	donor_gain	0.9600
20:37179378:T:G	donor_gain	0.9600
20:37179352:G:GT	donor_gain	0.9500
20:37179090:TTCC:T	donor_gain	0.9200
20:37179544:G:GT	donor_gain	0.9100
20:37179312:G:T	donor_gain	0.8700
20:37179475:GGGCA:G	donor_gain	0.8500
20:37179519:TCCG:T	donor_gain	0.8400
20:37179542:TGG:T	donor_gain	0.8400
20:37179543:GGG:G	donor_gain	0.8400
20:37179394:G:T	donor_gain	0.8200
20:37179526:G:GT	donor_gain	0.8200
20:37179394:G:GT	donor_gain	0.8000
20:37179415:G:T	donor_gain	0.7900
20:37179415:G:GT	donor_gain	0.7700
20:37179087:C:A	donor_gain	0.7600
20:37179449:C:T	donor_gain	0.7600
20:37179422:C:G	donor_gain	0.7500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000076422 (20:37176368 C>T), RS1000089342 (20:37148464 G>A,T), RS1000089973 (20:37104376 CAA>C), RS1000091599 (20:37140621 T>C), RS1000168352 (20:37164113 TCTTTC>T), RS1000226770 (20:37124989 A>C), RS1000235443 (20:37179254 C>A,T), RS1000253161 (20:37148148 G>A), RS1000262990 (20:37172842 T>C), RS1000300326 (20:37166121 T>C), RS1000347215 (20:37172979 C>G), RS1000406792 (20:37161084 GAA>G), RS1000419494 (20:37172746 C>A), RS1000461781 (20:37117918 A>G), RS1000474134 (20:37180838 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): congenital disorder of glycosylation (MONDO:0015286)

Orphanet (1): Congenital disorder of glycosylation (Orphanet:137)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000461_9	Hippocampal atrophy	2.000000e-06
GCST009856_24	Leukocyte telomere length	1.000000e-07
GCST90002404_577	Red cell distribution width	3.000000e-32

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005039	hippocampal atrophy
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression	3
Benzo(a)pyrene	decreases expression	2
methyleugenol	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Methapyrilene	decreases methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07572825	PHASE1	NOT_YET_RECRUITING	Assessing the Safety and Tolerability of NMN in DHDDS-CDG
NCT02089789	Not specified	RECRUITING	Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT02955264	Not specified	COMPLETED	Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
NCT03250728	Not specified	COMPLETED	Role of the Endothelium in Stroke-like Episode Among CDG Patients
NCT03560570	Not specified	COMPLETED	Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT04198987	Not specified	COMPLETED	Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
NCT04199000	Not specified	RECRUITING	Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT04201067	Not specified	COMPLETED	Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism