TERB2 telomere repeat binding bouquet formation protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TERB2provided by HGNC
Official Full Name: telomere repeat binding bouquet formation protein 2provided by HGNC
Primary source: HGNC:HGNC:28520
See related: Ensembl:ENSG00000167014 MIM:617131; AllianceGenome:HGNC:28520
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPGF59; C15orf43
Summary: Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 12.0) See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (44956687..44979229)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (42764694..42787237)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45248885..45271427)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Title: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope
Title: The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope.
complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate.
Title: Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 59 MedGen: C5562034 OMIM: 619645 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the TERB2 gene: The TERB2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 470 organisms have orthologs with human gene TERB2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in homologous chromosome pairing at meiosis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in homologous chromosome pairing at meiosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in meiotic attachment of telomere to nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in meiotic attachment of telomere to nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
involved_in meiotic telomere clustering	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nuclear inner membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: telomere repeats-binding bouquet formation protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_152448.3 → NP_689661.1 telomere repeats-binding bouquet formation protein 2

See identical proteins and their annotated locations for NP_689661.1

Status: VALIDATED

Source sequence(s)

AC090888, BC029537

Consensus CDS

CCDS10115.1

UniProtKB/Swiss-Prot

Q8NHR7

Related

ENSP00000340644.3, ENST00000340827.4

Conserved Domains (1) summary

pfam15101
Location:2 → 205

DUF4557; Domain of unknown function (DUF4557)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

44956687..44979229

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521240.3 → XP_011519542.1 telomere repeats-binding bouquet formation protein 2 isoform X1

Conserved Domains (1) summary

pfam15101
Location:2 → 116

DUF4557; Domain of unknown function (DUF4557)