TKTL2 transketolase like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TKTL2provided by HGNC
Official Full Name: transketolase like 2provided by HGNC
Primary source: HGNC:HGNC:25313
See related: Ensembl:ENSG00000151005 AllianceGenome:HGNC:25313
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
Summary: Predicted to enable thiamine pyrophosphate binding activity and transketolase activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 4q32.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (163471095..163473754, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (166818907..166821566, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (164392247..164394906, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homology modelling of TKTL1 and TKTL2 using transketolase (TKT) as template, revealed that both could assume a folded structure like TKT. TKTL1/2 presented a cleft of suitable dimensions between the homodimer surfaces that could accommodate the co-factor-substrate. An appropriate cavity and a hydrophobic nodule were also present in TKTL1/2 and implicated in aminopyrimidine and thiazole ring binding in TKT, respectively.
Title: The human transketolase-like proteins TKTL1 and TKTL2 are bona fide transketolases.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Submit: New GeneRIF Correction

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables thiamine pyrophosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables transketolase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: transketolase-like protein 2

Names: testis tissue sperm-binding protein Li 39a

NP_115512.3

EC 2.2.1.1

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_032136.5 → NP_115512.3 transketolase-like protein 2

See identical proteins and their annotated locations for NP_115512.3

Status: VALIDATED

Source sequence(s)

AL136779, DB095901

Consensus CDS

CCDS3805.1

UniProtKB/Swiss-Prot

A4FVB4, Q8NCT0, Q96M82, Q9H0I9

UniProtKB/TrEMBL

A0A140VKC2, B2RB68

Related

ENSP00000280605.3, ENST00000280605.5

Conserved Domains (4) summary

cd07033
Location:323 → 477

TPP_PYR_DXS_TK_like; Pyrimidine (PYR) binding domain of 1-deoxy-D-xylulose-5-phosphate synthase (DXS), transketolase (TK), and related proteins

PRK05899
Location:9 → 620

PRK05899; transketolase; Reviewed

cd02012
Location:21 → 269

TPP_TK; Thiamine pyrophosphate (TPP) family, Transketolase (TK) subfamily, TPP-binding module; TK catalyzes the transfer of a two-carbon unit from ketose phosphates to aldose phosphates. In heterotrophic organisms, TK provides a link between glycolysis and the ...

pfam02780
Location:494 → 616

Transketolase_C; Transketolase, C-terminal domain