1. Gene
  2. TRMT2A - tRNA methyltransferase 2 homolog A Gene

TRMT2A - tRNA methyltransferase 2 homolog A Gene

Homo sapiens

Also known as HTF9C

Gene ID: 27037 | Gene type: protein coding

About TRMT2A

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,111,875-20,117,226 (from NCBI)

This gene has 18 transcripts (splice variants), 201 orthologues and 1 paralogue. Ubiquitous expression in spleen (RPKM 11.1), testis (RPKM 10.2) and 25 other tissues.

Summary

The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

TRMT2A Products(4)

mRNA Protein Name
NM_001257994.2 NP_001244923.1 tRNA (uracil-5-)-methyltransferase homolog A isoform b
NM_001331039.2 NP_001317968.1 tRNA (uracil-5-)-methyltransferase homolog A isoform c
NM_022727.6 NP_073564.3 tRNA (uracil-5-)-methyltransferase homolog A isoform a
NM_182984.5 NP_892029.2 tRNA (uracil-5-)-methyltransferase homolog A isoform a
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables C-methyltransferase activity IDA
IDA: Inferred from direct assay
34123281 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables tRNA (uracil(54)-C5)-methyltransferase activity, S-adenosyl methionine-dependent IDA
IDA: Inferred from direct assay
31361898 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRMT2A Protein Structure

(76 - 139)

tRNA_U5-meth_tr

tRNA_U5-meth_tr: tRNA (Uracil-5-)-methyltransferase (401 - 588)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 625 a.a.
Protein Preferred Names Protein Names

tRNA (uracil-5-)-methyltransferase homolog A

TRM2 tRNA methyltransferase 2 homolog A

Related Diseases

Diseases Alias
Breast Mucinous Carcinoma

Mucinous Carcinoma Of Breast

Invasive Mucinous Breast Carcinoma

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus TRMT2A MGD MGI:96270
Felis catus TRMT2A VGNC VGNC:66571
Canis familiaris TRMT2A VGNC VGNC:47858
Macaca mulatta TRMT2A VGNC VGNC:79463
Rattus norvegicus TRMT2A RGD RGD:1310418
Bos taurus TRMT2A VGNC VGNC:36372