TEKT2 tektin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TEKT2provided by HGNC
Official Full Name: tektin 2provided by HGNC
Primary source: HGNC:HGNC:11725
See related: Ensembl:ENSG00000092850 MIM:608953; AllianceGenome:HGNC:11725
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TEKTB1; TEKTIN-T; h-tektin-t
Summary: This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 21.9), lung (RPKM 4.1) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (36084094..36088275)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (35946970..35951151)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (36549695..36553876)

Chromosome 1 - NC_000001.11 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?

Integrative transcriptome analysis reveals TEKT2 and PIAS2 involvement in diabetic nephropathy.
Title: Integrative transcriptome analysis reveals TEKT2 and PIAS2 involvement in diabetic nephropathy.
These results suggested that tektin-t variants (Arg/Cys + Cys/Cys) were probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in Sichuan, China, while the R207H polymorphism may be associated with idiopathic asthenozoospermia risk.
Title: Association of polymorphisms in tektin-t gene with idiopathic asthenozoospermia in Sichuan, China.
Levels of Tektin 2 and CatSper 2 proteins are positively associated with sperm motility parameters. Measurements of Tektin 2 levels can be correlated with the clinical outcome of ICSI.
Title: Levels of Tektin 2 and CatSper 2 in normozoospermic and oligoasthenozoospermic men and its association with motility, fertilization rate, embryo quality and pregnancy rate.
This is the first description of human pathology linked to a tektin-family gene, since only murine models are available for these genes.
Title: A possible association of a human tektin-t gene mutation (A229V) with isolated non-syndromic asthenozoospermia: case report.

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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

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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Markers

Tekt2 (e-PCR), detects polymorphism
- UniSTS:525517

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info
involved_in inner dynein arm assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axonemal A tubule inner sheath	IEA Inferred from Electronic Annotation more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule organizing center	ISS Inferred from Sequence or Structural Similarity more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: tektin-2

Names: tektin 2 (testicular); tektin-B1; testicular tektin B1-like protein

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.