TERB2 (telomere repeat binding bouquet formation protein 2)

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Gene Gene information from NCBI Gene database.
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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
miRNA miRNA information provided by mirtarbase database.
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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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
617131 28520 ENSG00000167014
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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)
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION — Disgenet, Orphanet
Disgenet, Orphanet 		33211200
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia Pubtator 33211200 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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KLHL10 3 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 6 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure — evidence mostly Disgenet. TERB1 3 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 6 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure — evidence mostly Disgenet. TEX14 3 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 6 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure — evidence mostly Disgenet. PNLDC1 3 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 6 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure — evidence mostly Disgenet. SHOC1 3 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 6 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure — evidence mostly Disgenet.
Coronary artery disease Linked via 2 of 5 related genesPNLDC1, SHOC1 Male infertility Linked via 2 of 5 related genesPNLDC1, SHOC1 Alzheimer disease Linked via 1 of 5 related genesKLHL10 Azoospermia Linked via 1 of 5 related genesTERB1 Gout Linked via 1 of 5 related genesTEX14