TERB2
entrez
145645
canonical
uniprot
Q8NHR7
canonical
ensembl
ENSG00000167014
resolver
ensp
ENSP00000340644
resolver
enst
ENST00000340827
resolver
genesymbol
TERB2
resolver
genesymbol_syn
C15orf43
resolver
hgnc
HGNC:28520
resolver
uniprot_entry
TERB2_HUMAN
resolver
amino_acid_sequence
MFQGQRGWFCGSVSQDLRQFWVAEGGTISDPRAADFLFSCDASHPDTLRIYQSLDYIEDNATVFHAYYLSAVANAKIKNSVALGHFILPPACLQKEIRRKIGSFIWEQDQHFLIEKHDEVTPNEIKTLRENSELATEHKKELSKSPEKHFIRTPVVEKQMYFPLQNYPVNNMVTGYISIDAMKKFLGELHDFIPGTSGYLAYHVQNEINMSAIKNKLKRK
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 59 (SPGF59) [MIM:619645]: An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to sperm maturation arrest. {ECO:0000269|PubMed:33377991}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
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}.
uniprot
proteins
mass_dalton
25316
uniprot
proteins
protein_family
TERB2 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26063658
uniprot
proteins
pubmed
33211200
uniprot
proteins
pubmed
33377991
uniprot
proteins
sequence_length
220
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome, telomere {ECO:0000250|UniProtKB:Q9D494}. Nucleus inner membrane {ECO:0000250|UniProtKB:Q9D494}. Note=Localizes to telomeres throughout meiotic prophase I and disappears in metaphase I. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250|UniProtKB:Q9D494}.
uniprot
proteins