TERB2

telomere repeat binding bouquet formation protein 2

Basic information

Region (hg38): 15:44956687-44979229

Previous symbols: [ "C15orf43" ]

Links

ENSG00000167014 ∙ NCBI:145645 ∙ OMIM:617131 ∙ HGNC:28520 ∙ Uniprot:Q8NHR7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 59	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	33211200

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TERB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TERB2 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						0
missense		1	3			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	3	0	0

Variants in TERB2

This is a list of pathogenic ClinVar variants found in the TERB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-44956905-G-T		not specified	Uncertain significance (Jul 09, 2021)
15-44958501-G-T		not specified	Uncertain significance (Aug 30, 2021)
15-44961579-G-A		not specified	Uncertain significance (Sep 17, 2021)
15-44966243-G-A		Non-obstructive azoospermia	Likely pathogenic (Mar 16, 2022)
15-44973888-AAC-A		Spermatogenic failure 59	Pathogenic (Dec 02, 2021)
15-44978508-C-CA		Spermatogenic failure 59	Pathogenic (Dec 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TERB2	protein_coding	protein_coding	ENST00000340827	7	22528

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000202	0.472	125733	0	12	125745	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.866	93	120	0.777	0.00000630	1470
Missense in Polyphen		24	38.21	0.62811		473
Synonymous	0.0734	43	43.6	0.986	0.00000276	376
Loss of Function	0.678	10	12.6	0.794	6.18e-7	147

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000464	0.0000440
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000655	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. {ECO:0000250|UniProtKB:Q9D494}.

Intolerance Scores

• rvis_EVS: 0.77
• rvis_percentile_EVS: 86.95

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.178

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Terb2

Gene ontology

• Biological process: synapsis;meiotic telomere clustering;meiotic attachment of telomere to nuclear envelope
• Cellular component: nuclear chromosome, telomeric region;nuclear inner membrane