MROH2B

protein-coding

maestro heat like repeat family member 2B, the group of Maestro heat like repeat containing

Gene summary

Predicted to enable signaling adaptor activity. Predicted to be involved in cAMP/PKA signal transduction. Predicted to be located in sperm midpiece. Predicted to be active in acrosomal vesicle. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

HEATR7B2

MANE transcript

NM_173489.5

Inheritance

—

ClinVar variants

U:226B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr5:40,998,017-41,071,342

External References & Databases

Ensembl (ENSG00000171495)

Transcript & Mutation Effects

hg38 • Region Span ~73.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MROH2B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 233

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173489.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				6 clinvar		6
missense			226 clinvar	10 clinvar		236
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	226	16	0	242

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173489.5	RefSeq	NP_775760.3	42	MANE Select
ENST00000399564.5	Ensembl	ENSP00000382476.4	42	MANE Select
ENST00000506092.6	Ensembl	ENSP00000441504.1	30	Standard
ENST00000506092.7	Ensembl	ENSP00000441504.1	30	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

spermatogenesis
protein kinase A signaling
cell differentiation

Cellular Component

acrosomal vesicle
cytoplasm
sperm flagellum
sperm midpiece

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000399564
Coding exons: 42
Length: 73326
Individuals with no LoFs: 72207
Homozygous LoFs: 7902
Heterozygous LoFs: 44537
Defined: 124646
p: 0.239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.790	850	788	1.08	0.0000394	10352
Missense (PolyPhen)		140	138.38	1.0117		1864
Synonymous	-0.925	308	288	1.07	0.0000149	2921
Loss of Function	1.94	69	88.8	0.777	0.00000463	1071

Population LoF Frequency

Population	CAF	p-value	Status
African	0.055	0.054	notable
Latino/Admixed American	0.37	0.36	notable
Ashkenazi Jewish	0.27	0.27	notable
East Asian	0.29	0.29	notable
Finnish	0.18	0.18	notable
European (Non-Finnish)	0.22	0.22	notable
South Asian	0.31	0.31	notable
Other	0.24	0.23	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the process of sperm capacitation. {ECO:0000250|UniProtKB:Q7M6Y6}.;

Recessive Scores

pRec: 0.0846

Intolerance Scores

RVIS EVS: 1.6
RVIS percentile EVS: 95.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High