MROH6

Summary

MROH6 (maestro heat like repeat family member 6, HGNC:27814) is a protein-coding gene on chromosome 8q24.3, encoding Maestro heat-like repeat-containing protein family member 6 (A6NGR9).

Predicted to be active in cytoplasm.

Source: NCBI Gene 642475 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 239 total
• MANE Select transcript: NM_001100878

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27814
Approved symbol	MROH6
Name	maestro heat like repeat family member 6
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204839
Ensembl biotype	protein_coding
Entrez	642475

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000398882, ENST00000524906, ENST00000529971, ENST00000532704, ENST00000532862, ENST00000533083, ENST00000533120, ENST00000533210, ENST00000533582, ENST00000533679, ENST00000534459

RefSeq mRNA: 1 — MANE Select: NM_001100878 NM_001100878

CCDS: CCDS47928

Canonical transcript exons

ENST00000398882 — 14 exons

Exon	Start	End
ENSE00001474561	143570243	143570380
ENSE00001474562	143570473	143570657
ENSE00001474564	143570877	143570994
ENSE00001474566	143571667	143571821
ENSE00001561560	143572033	143572185
ENSE00002150653	143566192	143567465
ENSE00002193095	143572421	143572772
ENSE00003502067	143567786	143567888
ENSE00003530874	143568142	143568261
ENSE00003611682	143569441	143569614
ENSE00003651265	143568552	143568719
ENSE00003654403	143569697	143569840
ENSE00003674303	143569951	143570065
ENSE00003682605	143567611	143567676

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.2734 / max 51.2532, expressed in 1060 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95486	1.0566	704
95488	0.7577	226
95485	0.3199	163
95489	0.0896	54
95490	0.0496	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	96.65	gold quality
esophagus mucosa	UBERON:0002469	90.87	gold quality
mucosa of transverse colon	UBERON:0004991	90.45	gold quality
skin of leg	UBERON:0001511	88.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.61	gold quality
zone of skin	UBERON:0000014	88.54	gold quality
skin of abdomen	UBERON:0001416	88.20	gold quality
bone marrow	UBERON:0002371	85.95	gold quality
blood	UBERON:0000178	85.82	gold quality
bone marrow cell	CL:0002092	84.19	gold quality
vagina	UBERON:0000996	83.36	gold quality
right lobe of liver	UBERON:0001114	83.22	gold quality
right hemisphere of cerebellum	UBERON:0014890	82.67	gold quality
cerebellar hemisphere	UBERON:0002245	82.39	gold quality
esophagus	UBERON:0001043	82.33	gold quality
cerebellum	UBERON:0002037	82.24	gold quality
cerebellar cortex	UBERON:0002129	82.21	gold quality
ectocervix	UBERON:0012249	80.21	gold quality
mucosa of stomach	UBERON:0001199	80.14	gold quality
spleen	UBERON:0002106	79.82	gold quality
transverse colon	UBERON:0001157	79.40	gold quality
right testis	UBERON:0004534	79.02	gold quality
granulocyte	CL:0000094	78.99	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.85	gold quality
left testis	UBERON:0004533	78.84	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.73	gold quality
testis	UBERON:0000473	78.61	gold quality
small intestine	UBERON:0002108	78.25	gold quality
duodenum	UBERON:0002114	77.82	gold quality
liver	UBERON:0002107	77.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting MROH6, 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-4673	100.00	66.64	1490
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-4468	98.01	66.85	1187
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-3921	97.81	67.45	1431
HSA-MIR-6737-5P	97.75	66.54	1044
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-5189-5P	97.72	66.96	1814
HSA-MIR-8055	97.62	66.09	1023
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-612	97.26	65.95	1597
HSA-MIR-4653-5P	97.22	67.72	1429
HSA-MIR-6860	97.21	66.31	1656
HSA-MIR-6748-3P	97.20	65.66	836

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mroh6	ENSMUSG00000098678
rattus_norvegicus	Mroh6	ENSRNOG00000032231

Paralogs (8): MROH8 (ENSG00000101353), MROH9 (ENSG00000117501), MRO (ENSG00000134042), MROH2B (ENSG00000171495), MROH1 (ENSG00000179832), MROH7 (ENSG00000184313), MROH2A (ENSG00000185038), MROH5 (ENSG00000226807)

Protein

Protein identifiers

Maestro heat-like repeat-containing protein family member 6 — A6NGR9 (reviewed: A6NGR9)

All UniProt accessions (3): A6NGR9, E9PJR4, E9PPP7

RefSeq proteins (1): NP_001094348* (*=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

Pfam: PF21047, PF23227

UniProt features (13 total): repeat 7, sequence variant 4, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGR9-F1	76.21	0.49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 23 (showing top): PEREZ_TP63_TARGETS, chr8q24, FORTSCHEGGER_PHF8_TARGETS_DN, COBLL1_TARGET_GENES, HAND1_TARGET_GENES, SUPT16H_TARGET_GENES, MIR6819_5P, MIR6737_5P, GSE12366_NAIVE_VS_MEMORY_BCELL_UP, BLANCO_MELO_HUMAN_PARAINFLUENZA_VIRUS_3_INFECTION_A594_CELLS_DN, HDGF_TARGET_GENES, NCOA4_TARGET_GENES, CDC73_TARGET_GENES, ELF5_TARGET_GENES, HARALAMBIEVA_PBMC_M_M_R_II_AGE_11_22YO_VACCINATED_VS_UNVACCINATED_7YR_DN

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

1080 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MROH6	SMCO3	A2RU48	562
MROH6	OR1J4	Q8NGS1	479
MROH6	SATL1	Q86VE3	464
MROH6	MATCAP2	Q8NCT3	445
MROH6	KPNB1	Q14974	421
MROH6	ZNF446	Q9NWS9	415
MROH6	NMNAT2	Q9BZQ4	401
MROH6	CBLL2	Q8N7E2	396
MROH6	HEATR9	A2RTY3	396
MROH6	ZBTB39	O15060	373
MROH6	VN1R1	Q9GZP7	372
MROH6	HAGHL	Q6PII5	369
MROH6	PNPO	Q9NVS9	364
MROH6	ACBD4	Q8NC06	353
MROH6	PCDHGA7	Q9Y5G6	353

IntAct

5 interactions, top by confidence:

A	B	Type	Score
IQGAP1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
PLEKHG7	MROH6	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): MROH6 (Affinity Capture-MS), MROH6 (Affinity Capture-MS), MROH6 (Proximity Label-MS), MROH6 (Affinity Capture-MS), MROH6 (Affinity Capture-MS), MROH6 (Affinity Capture-RNA), MROH6 (Affinity Capture-MS)

ESM2 similar proteins: A0JNQ6, A6NC42, A6NGQ2, A6NGR9, A6QP75, A7E3N7, A9X185, E1BDF2, E9PGG2, F6SZT2, P0C7A0, P85965, Q06VW1, Q0ZFW8, Q14DK4, Q3UK37, Q3UV16, Q3ZBN4, Q400G9, Q4VXA5, Q587J8, Q5JSQ8, Q60953, Q60I26, Q60I27, Q6NUI2, Q6ZUX3, Q810I0, Q8BH06, Q8C0R7, Q8IWB1, Q8IWY9, Q8IYX4, Q8K4C2, Q8N6L0, Q8N7F7, Q8NCV1, Q8TE82, Q91WA6, Q95JV3

Diamond homologs: A6NGR9, A7E2Y6, Q68CQ1, E0CZ22, Q8NDA8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	200
Likely benign	15
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2548 predictions. Top by Δscore:

Variant	Effect	Δscore
8:143567780:CCTCA:C	donor_loss	1.0000
8:143567781:CTCAC:C	donor_loss	1.0000
8:143567782:TCA:T	donor_loss	1.0000
8:143567783:CA:C	donor_loss	1.0000
8:143567784:A:AC	donor_gain	1.0000
8:143567784:A:AG	donor_loss	1.0000
8:143567785:C:CC	donor_gain	1.0000
8:143567785:C:CT	donor_loss	1.0000
8:143569439:A:AC	donor_gain	1.0000
8:143569440:C:CC	donor_gain	1.0000
8:143569694:CA:C	donor_gain	1.0000
8:143569699:T:A	donor_gain	1.0000
8:143569767:C:CA	donor_gain	1.0000
8:143570061:TAGCA:T	acceptor_gain	1.0000
8:143570063:GCA:G	acceptor_gain	1.0000
8:143570064:CA:C	acceptor_gain	1.0000
8:143570064:CAC:C	acceptor_gain	1.0000
8:143570066:C:CC	acceptor_gain	1.0000
8:143570237:CCTCA:C	donor_loss	1.0000
8:143570238:CTCA:C	donor_loss	1.0000
8:143570239:TCA:T	donor_loss	1.0000
8:143570240:CA:C	donor_loss	1.0000
8:143570242:C:CT	donor_loss	1.0000
8:143570872:CCTA:C	donor_loss	1.0000
8:143570873:CTACC:C	donor_loss	1.0000
8:143570874:TACCG:T	donor_loss	1.0000
8:143570875:ACCG:A	donor_gain	1.0000
8:143570876:CCG:C	donor_gain	1.0000
8:143570876:CCGC:C	donor_gain	1.0000
8:143567609:AC:A	donor_gain	0.9900

AlphaMissense

4492 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:143570296:C:A	W330C	0.993
8:143570296:C:G	W330C	0.993
8:143570298:A:G	W330R	0.991
8:143570298:A:T	W330R	0.991
8:143570262:C:G	G342R	0.984
8:143570978:A:G	W207R	0.975
8:143570978:A:T	W207R	0.975
8:143570359:C:A	K309N	0.971
8:143570359:C:G	K309N	0.971
8:143569738:C:G	G421R	0.970
8:143570262:C:A	G342C	0.970
8:143569737:C:T	G421D	0.963
8:143570595:G:C	F261L	0.963
8:143570595:G:T	F261L	0.963
8:143570597:A:G	F261L	0.963
8:143568694:G:T	A501D	0.960
8:143570297:C:G	W330S	0.959
8:143569728:C:T	G424D	0.958
8:143569729:C:G	G424R	0.957
8:143570976:C:A	W207C	0.957
8:143570976:C:G	W207C	0.957
8:143570258:A:T	V343D	0.956
8:143567800:G:T	A618D	0.955
8:143570315:A:T	M324K	0.951
8:143570261:C:T	G342D	0.948
8:143567672:G:C	F624L	0.944
8:143567672:G:T	F624L	0.944
8:143567674:A:G	F624L	0.944
8:143569836:A:G	L388S	0.944
8:143570249:A:T	L346Q	0.942

dbSNP variants (sampled 300 via entrez): RS1000030449 (8:143568859 G>C,T), RS1000142130 (8:143572882 G>A,T), RS1000150957 (8:143569532 C>T), RS1000560171 (8:143567375 C>G,T), RS1000639864 (8:143572330 C>T), RS1001553727 (8:143566672 T>A,G), RS1001969986 (8:143569254 C>A,G,T), RS1002289379 (8:143565719 C>T), RS1002373582 (8:143567320 G>A), RS1002517537 (8:143567478 C>G,T), RS1002724586 (8:143574504 C>T), RS1002958916 (8:143567651 G>A,C,T), RS1003126076 (8:143571956 G>A,T), RS1003457206 (8:143571170 T>C), RS1004162223 (8:143573175 G>A,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:249500

GenCC curated gene-disease

Mondo (1): autosomal recessive non-syndromic intellectual disability (MONDO:0019502)

Orphanet (1): Autosomal recessive non-syndromic intellectual disability (Orphanet:88616)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004781_24	Sulfasalazine-induced agranulocytosis	6.000000e-07
GCST008459_52	Schizophrenia	4.000000e-08
GCST008459_53	Schizophrenia	1.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
aristolochic acid I	increases expression	1
bufotalin	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
MT19c compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lead	increases expression	1
Methapyrilene	increases methylation	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	decreases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Nanotubes, Carbon	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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