MROH2B

Summary

MROH2B (maestro heat like repeat family member 2B, HGNC:26857) is a protein-coding gene on chromosome 5p13.1, encoding Maestro heat-like repeat-containing protein family member 2B (Q7Z745). May play a role in the process of sperm capacitation.

Predicted to be involved in protein kinase A signaling. Predicted to be located in sperm midpiece. Predicted to be active in acrosomal vesicle.

Source: NCBI Gene 133558 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 236 total
• MANE Select transcript: NM_173489

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26857
Approved symbol	MROH2B
Name	maestro heat like repeat family member 2B
Location	5p13.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp781F0822, FLJ40243, SPIF
Ensembl gene	ENSG00000171495
Ensembl biotype	protein_coding
OMIM	620930
Entrez	133558

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 retained_intron, 2 protein_coding

ENST00000399564, ENST00000503890, ENST00000506092, ENST00000508575, ENST00000511934, ENST00000515297

RefSeq mRNA: 1 — MANE Select: NM_173489 NM_173489

CCDS: CCDS47202

Canonical transcript exons

ENST00000399564 — 42 exons

Exon	Start	End
ENSE00002026342	41070825	41071342
ENSE00002031981	40998020	40998158
ENSE00003462894	41038736	41038888
ENSE00003466061	41045746	41045853
ENSE00003467262	40998612	40998677
ENSE00003469117	41047721	41047764
ENSE00003470010	41000678	41000833
ENSE00003470646	41004346	41004528
ENSE00003474286	41048324	41048465
ENSE00003479089	41057268	41057360
ENSE00003482066	41054767	41054840
ENSE00003505130	41032742	41032821
ENSE00003511375	41033838	41033864
ENSE00003514509	41064472	41064570
ENSE00003514665	40999677	40999779
ENSE00003526462	41058063	41058203
ENSE00003541543	41055742	41055855
ENSE00003547031	41067108	41067218
ENSE00003550809	41005531	41005645
ENSE00003551696	41007314	41007454
ENSE00003556141	41061570	41061724
ENSE00003566307	41018691	41018786
ENSE00003566830	41050977	41051090
ENSE00003567749	41000220	41000351
ENSE00003570531	41008606	41008793
ENSE00003572458	41033041	41033160
ENSE00003578612	41049101	41049141
ENSE00003582200	41052465	41052587
ENSE00003590211	41049280	41049436
ENSE00003602047	41015381	41015478
ENSE00003609813	41018341	41018430
ENSE00003610176	41009280	41009406
ENSE00003629744	41004774	41004920
ENSE00003636083	41057109	41057178
ENSE00003653381	41069691	41069752
ENSE00003658058	41017850	41017970
ENSE00003667062	41042092	41042208
ENSE00003670640	41039448	41039555
ENSE00003673453	41009922	41010079
ENSE00003682730	41065331	41065490
ENSE00003685282	41012583	41012735
ENSE00003692340	41018883	41019018

Expression profiles

Bgee: expression breadth broad, 100 present calls, max score 88.79.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1164 / max 89.8709, expressed in 3 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61459	0.0978	3
61460	0.0149	3
61458	0.0037	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	88.79	gold quality
left testis	UBERON:0004533	88.43	gold quality
right testis	UBERON:0004534	87.32	gold quality
testis	UBERON:0000473	86.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.05	gold quality
adult organism	UBERON:0007023	69.34	gold quality
epithelial cell of pancreas	CL:0000083	66.89	gold quality
tibialis anterior	UBERON:0001385	66.74	silver quality
upper arm skin	UBERON:0004263	65.12	gold quality
endothelial cell	CL:0000115	63.99	gold quality
mucosa of stomach	UBERON:0001199	62.99	gold quality
pancreatic ductal cell	CL:0002079	62.36	silver quality
ileal mucosa	UBERON:0000331	61.47	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	60.45	gold quality
deltoid	UBERON:0001476	57.24	silver quality
right lobe of liver	UBERON:0001114	56.16	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
skin of hip	UBERON:0001554	53.33	silver quality
liver	UBERON:0002107	51.99	gold quality
right ovary	UBERON:0002118	51.57	gold quality
smooth muscle tissue	UBERON:0001135	51.49	gold quality
left adrenal gland cortex	UBERON:0035825	51.35	gold quality
myocardium	UBERON:0002349	50.25	gold quality
adrenal cortex	UBERON:0001235	49.99	gold quality
oocyte	CL:0000023	49.89	gold quality
upper leg skin	UBERON:0004262	49.02	silver quality
left ovary	UBERON:0002119	48.86	gold quality
ovary	UBERON:0000992	48.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.19
E-HCAD-30	no	47.21

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mroh2b	ENSMUSG00000022155
rattus_norvegicus	Mroh2b	ENSRNOG00000042327

Paralogs (8): MROH8 (ENSG00000101353), MROH9 (ENSG00000117501), MRO (ENSG00000134042), MROH1 (ENSG00000179832), MROH7 (ENSG00000184313), MROH2A (ENSG00000185038), MROH6 (ENSG00000204839), MROH5 (ENSG00000226807)

Protein

Protein identifiers

Maestro heat-like repeat-containing protein family member 2B — Q7Z745 (reviewed: Q7Z745)

Alternative names: HEAT repeat-containing protein 7B2, Sperm PKA-interacting factor

All UniProt accessions (2): Q7Z745, F5GZ06

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the process of sperm capacitation.

Subunit / interactions. Found in a complex at least composed of MROH2B, PRKACA isoform 2 and TCP11. Interacts with PRKACA. Interacts with TCP11.

Subcellular location. Cytoplasm. Cytoplasmic vesicle. Secretory vesicle. Acrosome. Cell projection. Cilium. Flagellum.

Post-translational modifications. Constitutively phosphorylated on serine and threonine residues in acrosomal region of the sperm head, midpiece and flagellar regions of noncapacitated spermatozoa. Phosphorylation on tyrosine residues increases upon sperm capacitation within the acrosomal and tail regions in a protein kinase A (PKA)-dependent signaling pathway.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z745-1	1	yes
Q7Z745-2	2

RefSeq proteins (1): NP_775760* (*=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): repeat 15, sequence variant 11, sequence conflict 5, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z745-F1	84.80	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 37 (showing top): GOCC_SECRETORY_GRANULE, GOBP_MALE_GAMETE_GENERATION, MYB_Q3, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, MYB_Q5_01, GOCC_SECRETORY_VESICLE, GOCC_MOTILE_CILIUM, GOCC_SPERM_MIDPIECE, GOCC_ACROSOMAL_VESICLE, GOCC_CILIUM, SMAD4_Q6, GOMF_SIGNALING_ADAPTOR_ACTIVITY, TGATTTRY_GFI1_01, GOCC_9PLUS2_MOTILE_CILIUM, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

GO Biological Process (3): spermatogenesis (GO:0007283), obsolete protein kinase A signaling (GO:0010737), cell differentiation (GO:0030154)

GO Molecular Function (0):

GO Cellular Component (8): acrosomal vesicle (GO:0001669), cytoplasm (GO:0005737), sperm flagellum (GO:0036126), sperm midpiece (GO:0097225), cilium (GO:0005929), cytoplasmic vesicle (GO:0031410), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
secretory granule	1
intracellular anatomical structure	1
9+2 motile cilium	1
sperm flagellum	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoplasm	1
intracellular vesicle	1
cilium	1

Protein interactions and networks

STRING

490 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MROH2B	IL7R	P16871	675
MROH2B	MB21D2	Q8IYB1	451
MROH2B	BAG3	O95817	435
MROH2B	MROH7	Q68CQ1	429
MROH2B	C3orf70	A6NLC5	418
MROH2B	TXN	P10599	416
MROH2B	MROH9	Q5TGP6	415
MROH2B	OR10A7	Q8NGE5	398
MROH2B	MROH2A	A6NES4	397
MROH2B	HSPA4	P34932	392
MROH2B	PKHD1L1	Q86WI1	376
MROH2B	ANKK1	Q8NFD2	375
MROH2B	TEX13D	A0A0J9YY54	366
MROH2B	XPO1	O14980	349
MROH2B	CELSR2	Q9HCU4	348

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MROH2B	GBF1	psi-mi:“MI:0915”(physical association)	0.400
MROH2B	RPLP2	psi-mi:“MI:0915”(physical association)	0.400
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): MROH2B (Proximity Label-MS), GBF1 (Proximity Label-MS), MROH2B (Affinity Capture-MS), MROH2B (Cross-Linking-MS (XL-MS)), MROH2B (Affinity Capture-MS), MROH2B (Cross-Linking-MS (XL-MS)), MROH2B (Protein-peptide), MROH2B (Co-fractionation)

ESM2 similar proteins: A0A140LIF8, A0A2P1BRP3, A0A386CAB9, A0JN92, A1A4Y4, O14791, P27473, P59045, P86448, P86449, Q0GUM3, Q13075, Q3B7D9, Q3T9E4, Q3TL54, Q53G44, Q5NCI0, Q5RFJ8, Q60766, Q62293, Q66X01, Q66X03, Q66X05, Q66X22, Q6AYC2, Q6ZSC3, Q7Z745, Q84WJ0, Q86W28, Q8BV66, Q8BVM9, Q8C6J9, Q8CBA2, Q8CCN1, Q8TCB0, Q8TCY9, Q8TD90, Q90597, Q99388, Q99J64

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	214
Likely benign	13
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

5817 predictions. Top by Δscore:

Variant	Effect	Δscore
5:40998678:C:CC	acceptor_gain	1.0000
5:41004344:A:AC	donor_gain	1.0000
5:41004345:C:CC	donor_gain	1.0000
5:41004345:CAT:C	donor_gain	1.0000
5:41005524:C:CA	donor_gain	1.0000
5:41009278:A:AC	donor_gain	1.0000
5:41009279:C:CC	donor_gain	1.0000
5:41018783:GAAA:G	acceptor_gain	1.0000
5:41018787:C:CC	acceptor_gain	1.0000
5:41018864:AGG:A	donor_gain	1.0000
5:41018881:A:AC	donor_gain	1.0000
5:41018882:C:CC	donor_gain	1.0000
5:41038897:C:CT	acceptor_gain	1.0000
5:41038898:A:T	acceptor_gain	1.0000
5:41045854:C:CC	acceptor_gain	1.0000
5:41047716:CTTA:C	donor_loss	1.0000
5:41047718:TA:T	donor_loss	1.0000
5:41047719:A:C	donor_loss	1.0000
5:41047761:TTTCC:T	acceptor_loss	1.0000
5:41047765:C:CC	acceptor_gain	1.0000
5:41047765:CTAG:C	acceptor_loss	1.0000
5:41049279:CCAG:C	donor_gain	1.0000
5:41049284:T:A	donor_gain	1.0000
5:41050972:CTTA:C	donor_loss	1.0000
5:41050973:TTAC:T	donor_loss	1.0000
5:41050974:TACCT:T	donor_loss	1.0000
5:41050975:A:AC	donor_gain	1.0000
5:41050975:AC:A	donor_gain	1.0000
5:41050975:ACCTG:A	donor_loss	1.0000
5:41050976:C:CG	donor_gain	1.0000

AlphaMissense

10501 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:41004445:G:C	S1365R	0.999
5:41004445:G:T	S1365R	0.999
5:41004447:T:G	S1365R	0.999
5:41000808:G:T	A1407D	0.997
5:41000729:G:C	S1433R	0.996
5:41000729:G:T	S1433R	0.996
5:41000731:T:G	S1433R	0.996
5:41000809:C:G	A1407P	0.996
5:41000816:T:A	R1404S	0.995
5:41000816:T:G	R1404S	0.995
5:41000817:C:G	R1404T	0.995
5:41004434:A:G	L1369P	0.994
5:41009390:A:G	W1104R	0.992
5:41009390:A:T	W1104R	0.992
5:41033128:G:C	S758R	0.992
5:41033128:G:T	S758R	0.992
5:41033130:T:G	S758R	0.992
5:41048363:A:G	W549R	0.992
5:41048363:A:T	W549R	0.992
5:40998122:A:T	V1563D	0.991
5:40999682:A:G	L1527P	0.991
5:41004809:C:G	G1326R	0.991
5:41004809:C:T	G1326R	0.991
5:40998111:C:G	A1567P	0.990
5:41004486:C:G	G1352R	0.989
5:41038824:G:T	A709D	0.989
5:41000710:G:C	H1440D	0.988
5:41004808:C:T	G1326E	0.988
5:41000818:T:C	R1404G	0.987
5:41008701:G:C	S1171R	0.987

dbSNP variants (sampled 300 via entrez): RS1000089882 (5:41044279 C>T), RS1000133282 (5:41072464 T>C), RS1000167219 (5:41013817 C>T), RS1000176124 (5:41054012 C>T), RS1000194322 (5:41069849 TCCTC>T), RS1000202815 (5:41014075 A>G), RS1000222264 (5:40999179 A>G), RS1000243113 (5:41072522 T>C), RS1000247112 (5:41029510 C>A,T), RS1000253463 (5:41041087 A>G), RS1000291802 (5:41047543 T>C), RS1000363421 (5:41001678 C>G,T), RS1000372473 (5:41047757 G>A), RS1000381439 (5:41065964 G>A), RS1000426351 (5:41025616 G>A,C)

Disease associations

OMIM: gene MIM:620930 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009391_1036	Metabolite levels	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009775	threonine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
theaflavin-3,3’-digallate	affects expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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