MROH2B

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

Basic information

Region (hg38): 5:40998016-41071342

Previous symbols: [ "HEATR7B2" ]

Links

ENSG00000171495 ∙ NCBI:133558 ∙ ∙ HGNC:26857 ∙ Uniprot:Q7Z745 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MROH2B gene.

• Inborn genetic diseases (66 variants)
• not provided (6 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH2B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5		5
missense			63	4		67
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	63	9	0

Variants in MROH2B

This is a list of pathogenic ClinVar variants found in the MROH2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-40998059-G-A		not specified	Uncertain significance (Nov 13, 2023)
5-40998132-A-G		not specified	Uncertain significance (Aug 01, 2022)
5-40998136-A-T		not specified	Uncertain significance (Dec 07, 2021)
5-40998617-G-T		not specified	Uncertain significance (Dec 17, 2023)
5-40999679-G-A		not specified	Uncertain significance (Jun 22, 2021)
5-40999697-C-T		not specified	Uncertain significance (Jun 10, 2022)
5-41000232-G-T		not specified	Uncertain significance (Jul 09, 2021)
5-41000281-C-T		not specified	Likely benign (Sep 14, 2022)
5-41000290-A-G		not specified	Uncertain significance (Jan 08, 2024)
5-41000296-T-C		not specified	Uncertain significance (Mar 04, 2024)
5-41000303-C-T		not specified	Uncertain significance (Nov 17, 2022)
5-41000332-A-T		not specified	Uncertain significance (Jul 26, 2022)
5-41000344-C-T		not specified	Uncertain significance (Apr 28, 2022)
5-41000689-T-C		not specified	Uncertain significance (Nov 08, 2022)
5-41000693-G-T		not specified	Uncertain significance (Aug 13, 2021)
5-41000741-T-C			Likely benign (Oct 01, 2022)
5-41000741-T-G		not specified	Uncertain significance (Nov 21, 2023)
5-41000765-C-A		not specified	Uncertain significance (Dec 20, 2023)
5-41004404-C-T		not specified	Uncertain significance (Dec 16, 2023)
5-41004492-T-C		not specified	Uncertain significance (Mar 01, 2024)
5-41004836-C-A		not specified	Uncertain significance (Feb 15, 2023)
5-41004876-A-T		not specified	Uncertain significance (Oct 26, 2022)
5-41005597-C-T			Likely benign (Mar 01, 2023)
5-41007428-A-G		not specified	Uncertain significance (Feb 02, 2022)
5-41008655-G-A		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MROH2B	protein_coding	protein_coding	ENST00000399564	42	73326

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.32e-38	0.00951	72207	7902	44537	124646	0.239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.790	850	788	1.08	0.0000394	10352
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.420	0.420
Ashkenazi Jewish	0.270	0.268
East Asian	0.292	0.289
Finnish	0.180	0.179
European (Non-Finnish)	0.221	0.218
Middle Eastern	0.292	0.289
South Asian	0.314	0.308
Other	0.239	0.234

dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.144
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mroh2b

Gene ontology

• Biological process: spermatogenesis;protein kinase A signaling;cell differentiation
• Cellular component: acrosomal vesicle;cytoplasm;sperm flagellum;sperm midpiece