Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	145645
Gene name	Telomere repeat binding bouquet formation protein 2
Gene symbol	TERB2
Synonyms (NCBI Gene)	C15orf43SPGF59
Chromosome	15
Chromosome location	15q21.1

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT499559	hsa-miR-4311	PAR-CLIP	24398324
MIRT499558	hsa-miR-3154	PAR-CLIP	24398324
MIRT499557	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499556	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499555	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499554	hsa-miR-5584-5p	PAR-CLIP	24398324
MIRT499552	hsa-miR-3179	PAR-CLIP	24398324
MIRT499553	hsa-miR-6770-5p	PAR-CLIP	24398324
MIRT499551	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT499550	hsa-miR-4784	PAR-CLIP	24398324
MIRT499549	hsa-miR-6124	PAR-CLIP	24398324
MIRT499548	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT499547	hsa-miR-4306	PAR-CLIP	24398324
MIRT499546	hsa-miR-4644	PAR-CLIP	24398324
MIRT499545	hsa-miR-765	PAR-CLIP	24398324
MIRT499544	hsa-miR-4668-5p	PAR-CLIP	24398324
MIRT499543	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT499542	hsa-miR-6825-5p	PAR-CLIP	24398324

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	ISS
GO:0005694	Component	Chromosome	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0045141	Process	Meiotic telomere clustering	IEA
GO:0045141	Process	Meiotic telomere clustering	ISS
GO:0048477	Process	Oogenesis	IEA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	IBA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	IEA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	ISS
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IEA

MIM	HGNC	e!Ensembl
617131	28520	ENSG00000167014

Q8NHR7

Protein name

Telomere repeats-binding bouquet formation protein 2

Protein 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 excha

PDB

6GNX , 6GNY , 6J07 , 6J08

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15101	TERB2	2 → 206	Telomere-associated protein TERB2	Family

Sequence

MFQGQRGWFCGSVSQDLRQFWVAEGGTISDPRAADFLFSCDASHPDTLRIYQSLDYIEDN
ATVFHAYYLSAVANAKIKNSVALGHFILPPACLQKEIRRKIGSFIWEQDQHFLIEKHDEV
TPNEIKTLRENSELATEHKKELSKSPEKHFIRTPVVEKQMYFPLQNYPVNNMVTGYISID
AMKKFLGELHDFIPGTSGYLAYHVQNEINMSAIKNKLKRK

Sequence length

220

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Non-obstructive azoospermia	Likely pathogenic	rs202094227	RCV001648501	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 59	Pathogenic	rs2141244939, rs1218912028	RCV001788840 RCV001788841	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	Pubtator	33211200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TERB2 (telomere repeat binding bouquet formation protein 2)