MROH2A

Summary

MROH2A (maestro heat like repeat family member 2A, HGNC:27936) is a protein-coding gene on chromosome 2q37.1, encoding Maestro heat-like repeat-containing protein family member 2A (A6NES4).

This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized.

Source: NCBI Gene 339766 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_001394639

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27936
Approved symbol	MROH2A
Name	maestro heat like repeat family member 2A
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185038
Ensembl biotype	protein_coding
Entrez	339766

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000389758, ENST00000428446, ENST00000430892, ENST00000454283, ENST00000477506, ENST00000480634, ENST00000487979, ENST00000610772

RefSeq mRNA: 2 — MANE Select: NM_001394639 NM_001367507, NM_001394639

CCDS: CCDS92974

Canonical transcript exons

ENST00000389758 — 42 exons

Exon	Start	End
ENSE00001506841	233828630	233828779
ENSE00001506843	233823556	233823664
ENSE00001506845	233822881	233823018
ENSE00001506846	233822363	233822556
ENSE00001506848	233822124	233822283
ENSE00001506849	233819902	233820056
ENSE00001506850	233819317	233819469
ENSE00001506852	233818652	233818770
ENSE00001506854	233818002	233818125
ENSE00001506855	233816781	233816885
ENSE00001506856	233814582	233814677
ENSE00001506858	233813670	233813778
ENSE00001506859	233811880	233811959
ENSE00001506860	233810794	233810916
ENSE00001506861	233809126	233809278
ENSE00001506863	233807733	233807855
ENSE00001506864	233807423	233807542
ENSE00001506865	233805004	233805111
ENSE00001506868	233804495	233804547
ENSE00001506869	233804051	233804192
ENSE00001506870	233803448	233803488
ENSE00001506871	233802168	233802315
ENSE00001506878	233795653	233795745
ENSE00001506880	233794363	233794506
ENSE00001506882	233793673	233793824
ENSE00001506883	233792796	233792894
ENSE00001506884	233789852	233790014
ENSE00001506885	233789497	233789628
ENSE00001694035	233778330	233778481
ENSE00003321398	233779345	233779452
ENSE00003467977	233831409	233831540
ENSE00003478642	233796200	233796313
ENSE00003511741	233829620	233829775
ENSE00003513556	233828890	233829072
ENSE00003556466	233799780	233799899
ENSE00003608248	233798774	233798850
ENSE00003654249	233779671	233779852
ENSE00003662539	233800205	233800315
ENSE00003682939	233832177	233832279
ENSE00003683959	233795967	233796045
ENSE00003687891	233832579	233832644
ENSE00003931768	233833138	233833418

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 80.93.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0283 / max 16.2122, expressed in 5 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26105	0.0198	5
26106	0.0085	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.93	gold quality
right lobe of liver	UBERON:0001114	77.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.42	gold quality
liver	UBERON:0002107	70.88	gold quality
left testis	UBERON:0004533	70.08	gold quality
right testis	UBERON:0004534	69.98	gold quality
testis	UBERON:0000473	67.72	gold quality
right lobe of thyroid gland	UBERON:0001119	62.00	gold quality
left lobe of thyroid gland	UBERON:0001120	61.24	gold quality
thyroid gland	UBERON:0002046	60.34	gold quality
urinary bladder	UBERON:0001255	59.44	gold quality
secondary oocyte	CL:0000655	58.92	gold quality
lower esophagus mucosa	UBERON:0035834	56.83	gold quality
adult mammalian kidney	UBERON:0000082	56.58	gold quality
body of stomach	UBERON:0001161	55.76	gold quality
esophagus mucosa	UBERON:0002469	55.02	gold quality
cortex of kidney	UBERON:0001225	54.45	gold quality
sural nerve	UBERON:0015488	52.96	gold quality
metanephros cortex	UBERON:0010533	52.90	gold quality
kidney	UBERON:0002113	52.65	gold quality
stomach	UBERON:0000945	52.46	gold quality
skin of leg	UBERON:0001511	52.26	gold quality
mucosa of transverse colon	UBERON:0004991	51.72	gold quality
fundus of stomach	UBERON:0001160	50.73	gold quality
substantia nigra pars reticulata	UBERON:0001966	50.18	gold quality
metanephros	UBERON:0000081	49.14	gold quality
lateral globus pallidus	UBERON:0002476	48.31	gold quality
duodenum	UBERON:0002114	48.25	gold quality
jejunal mucosa	UBERON:0000399	48.16	silver quality
zone of skin	UBERON:0000014	47.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting MROH2A, 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-1252-5P	100.00	69.80	2774
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-155-3P	99.03	67.99	924
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-6125	95.17	67.26	91
HSA-MIR-95-3P	89.95	66.87	81

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mroh2a	ENSMUSG00000079429
rattus_norvegicus	Mroh2a	ENSRNOG00000042182

Paralogs (8): MROH8 (ENSG00000101353), MROH9 (ENSG00000117501), MRO (ENSG00000134042), MROH2B (ENSG00000171495), MROH1 (ENSG00000179832), MROH7 (ENSG00000184313), MROH6 (ENSG00000204839), MROH5 (ENSG00000226807)

Protein

Protein identifiers

Maestro heat-like repeat-containing protein family member 2A — A6NES4 (reviewed: A6NES4)

Alternative names: HEAT repeat-containing protein 7B1

All UniProt accessions (4): A6NES4, A0A087WT58, A0A1D5RMP9, C9IYW5

RefSeq proteins (2): NP_001354436, NP_001381568* (*=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 (33 total): sequence variant 17, repeat 14, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NES4-F1	79.17	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): RIGGI_EWING_SARCOMA_PROGENITOR_UP, FOXN3_TARGET_GENES, GLI4_TARGET_GENES, ID1_TARGET_GENES, SRSF9_TARGET_GENES, ZNF30_TARGET_GENES, GSE10239_NAIVE_VS_MEMORY_CD8_TCELL_DN, GSE10239_MEMORY_VS_KLRG1INT_EFF_CD8_TCELL_UP, MIR4261, GSE10239_MEMORY_VS_KLRG1HIGH_EFF_CD8_TCELL_UP, MIR96_5P, MIR147B_5P, MIR1271_5P, MIR12133, MIR3685

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

238 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MROH2A	TEX44	Q53QW1	604
MROH2A	MROH9	Q5TGP6	600
MROH2A	FBXO36	Q8NEA4	477
MROH2A	USP40	Q9NVE5	447
MROH2A	SPATA3	Q8NHX4	432
MROH2A	HJURP	Q8NCD3	431
MROH2A	ANKDD1B	A6NHY2	414
MROH2A	COPS7B	Q9H9Q2	400
MROH2A	SFI1	A8K8P3	398
MROH2A	MROH2B	Q7Z745	397
MROH2A	ARMC9	Q7Z3E5	388
MROH2A	XPO1	O14980	383
MROH2A	TMEM91	Q6ZNR0	375
MROH2A	KPNB1	Q14974	349
MROH2A	UGT1A7	Q9HAW7	348

IntAct

2 interactions, top by confidence:

A	B	Type	Score
MROH2A	NOMO1	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A6NES4, A7E2Y6, A8C752, A8C754, A8C756, B0I564, D3Z750, E0CZ22, E1BP36, E9Q2M9, O35821, O43156, O70576, P50851, Q0V9L1, Q15021, Q15051, Q32PJ3, Q4R180, Q5DJU3, Q5TGP6, Q642P2, Q66H56, Q692V3, Q6DCF2, Q6NXR4, Q6P2S7, Q6P3V7, Q6YHU6, Q6ZS30, Q6ZS81, Q6ZUA9, Q7M6Y6, Q7TPV4, Q7Z745, Q8BGV4, Q8BP00, Q8C3S2, Q8IYW2, Q8K368

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

7264 predictions. Top by Δscore:

Variant	Effect	Δscore
2:233779324:A:AG	acceptor_gain	1.0000
2:233789616:G:GT	donor_gain	1.0000
2:233789847:TGCA:T	acceptor_loss	1.0000
2:233789849:CA:C	acceptor_loss	1.0000
2:233789850:A:AG	acceptor_gain	1.0000
2:233789850:A:AT	acceptor_loss	1.0000
2:233789850:AGAT:A	acceptor_gain	1.0000
2:233789850:AGATG:A	acceptor_gain	1.0000
2:233789851:G:GA	acceptor_gain	1.0000
2:233789851:GAT:G	acceptor_gain	1.0000
2:233789851:GATG:G	acceptor_gain	1.0000
2:233789851:GATGG:G	acceptor_gain	1.0000
2:233793664:T:TA	acceptor_gain	1.0000
2:233793667:T:A	acceptor_gain	1.0000
2:233793671:A:AG	acceptor_gain	1.0000
2:233793672:G:GA	acceptor_gain	1.0000
2:233793672:GCCAT:G	acceptor_gain	1.0000
2:233793822:GAGGT:G	donor_loss	1.0000
2:233793826:T:G	donor_loss	1.0000
2:233794478:G:T	donor_gain	1.0000
2:233794486:G:GT	donor_gain	1.0000
2:233796197:CAG:C	acceptor_loss	1.0000
2:233796198:A:AG	acceptor_gain	1.0000
2:233796198:A:C	acceptor_loss	1.0000
2:233796199:G:GA	acceptor_gain	1.0000
2:233796199:G:GC	acceptor_loss	1.0000
2:233796199:GCTC:G	acceptor_gain	1.0000
2:233796259:G:GT	donor_gain	1.0000
2:233796301:G:GG	donor_gain	1.0000
2:233796310:GATG:G	donor_gain	1.0000

AlphaMissense

11072 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:233793801:T:A	W267R	0.994
2:233793801:T:C	W267R	0.994
2:233805068:T:C	L670P	0.993
2:233807761:C:A	A734D	0.991
2:233794388:T:C	L283P	0.990
2:233804527:T:A	W642R	0.990
2:233804527:T:C	W642R	0.990
2:233807757:T:C	C733R	0.990
2:233810824:A:C	S827R	0.990
2:233810826:T:A	S827R	0.990
2:233810826:T:G	S827R	0.990
2:233807759:T:G	C733W	0.989
2:233789892:T:C	L150P	0.987
2:233802234:T:C	C543R	0.987
2:233804106:T:C	L602P	0.987
2:233804529:G:C	W642C	0.986
2:233804529:G:T	W642C	0.986
2:233807445:G:A	G692D	0.986
2:233807745:T:C	C729R	0.986
2:233789937:T:C	L165P	0.985
2:233804153:T:A	W618R	0.985
2:233804153:T:C	W618R	0.985
2:233789988:C:A	T182K	0.984
2:233790000:T:C	L186P	0.984
2:233799849:T:A	W467R	0.984
2:233799849:T:C	W467R	0.984
2:233802244:T:C	L546P	0.984
2:233807444:G:C	G692R	0.984
2:233807794:T:C	L745P	0.984
2:233789901:T:C	L153P	0.983

dbSNP variants (sampled 300 via entrez): RS1000017828 (2:233786979 C>A,T), RS1000033188 (2:233797317 A>G), RS1000112326 (2:233819378 A>C,G), RS1000129365 (2:233776439 T>G), RS1000175929 (2:233812869 A>G), RS1000204676 (2:233814235 A>AG), RS1000216875 (2:233775872 C>T), RS1000265549 (2:233818599 G>A,C,T), RS1000285279 (2:233818213 G>A), RS1000308783 (2:233830488 G>C,T), RS1000321132 (2:233814457 G>A), RS1000330170 (2:233789198 T>C), RS1000337879 (2:233782544 T>A,C), RS1000466704 (2:233788776 A>C,G), RS1000547755 (2:233819532 A>G)

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

8 associations (top):

Study	Trait	p-value
GCST002745_1	Total bilirubin levels in HIV-1 infection	3.000000e-06
GCST002745_10	Total bilirubin levels in HIV-1 infection	1.000000e-30
GCST002745_11	Total bilirubin levels in HIV-1 infection	3.000000e-24
GCST003478_1	Hair greying	7.000000e-06
GCST005246_1	Inhibitory control	5.000000e-07
GCST007018_3	Serum bilirubin levels in metabolic syndrome	4.000000e-08
GCST008968_4	White coat effect (clinic systolic blood pressure minus ambulatory systolic blood pressure)	3.000000e-06
GCST010117_4	Bilirubin levels	5.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004570	bilirubin measurement
EFO:0008467	behavioural inhibitory control measurement
EFO:0006944	systolic blood pressure change measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

5 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs8330	MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	3	1.75	3	acetaminophen;atazanavir;ritonavir
rs1042640	MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	3	2.25	3	acetaminophen;atazanavir;ritonavir
rs10929303	MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	3	1.75	3	acetaminophen;atazanavir;ritonavir
rs11563250	MROH2A, UGT1A	3	3.75	2	bilirubin;irinotecan
rs34993780	MROH2A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	3	0.00	1	SN-38

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
abrine	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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