1. Gene
  2. THUMPD2 - THUMP domain containing 2 Gene

THUMPD2 - THUMP domain containing 2 Gene

Homo sapiens

Also known as C2orf8

Gene ID: 80745 | Gene type: protein coding

About THUMPD2

Cytogenetic location: 2p22.1 Genomic coordinates (GRCh38): 2:39,736,060-39,779,276 (from NCBI)

This gene has 9 transcripts (splice variants), 193 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 6.9), ovary (RPKM 4.8) and 25 other tissues.

Summary

Predicted to enable tRNA (guanine) methyltransferase activity. Predicted to be involved in tRNA methylation. [provided by Alliance of Genome Resources, Apr 2022]

THUMPD2 Products(11)

mRNA Protein Name
NM_001321468.1 NP_001308397.1 THUMP domain-containing protein 2 isoform 2
NM_001321469.1 NP_001308398.1 THUMP domain-containing protein 2 isoform 3
NM_001321470.1 NP_001308399.1 THUMP domain-containing protein 2 isoform 4
NM_001321474.1 NP_001308403.1 THUMP domain-containing protein 2 isoform 5
NM_001321475.1 NP_001308404.1 THUMP domain-containing protein 2 isoform 6
NM_001321477.1 NP_001308406.1 THUMP domain-containing protein 2 isoform 7
NM_001321478.1 NP_001308407.1 THUMP domain-containing protein 2 isoform 7
NM_001321479.1 NP_001308408.1 THUMP domain-containing protein 2 isoform 7
NM_001321480.1 NP_001308409.1 THUMP domain-containing protein 2 isoform 7
NM_001321481.1 NP_001308410.1 THUMP domain-containing protein 2 isoform 7
NM_025264.5 NP_079540.2 THUMP domain-containing protein 2 isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 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

THUMPD2 Protein Structure

THUMP

THUMP: THUMP domain (180 - 255)

UPF0020

UPF0020: Putative RNA methylase family UPF0020 (274 - 412)

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  • 400
  • 503 a.a.
Protein Preferred Names Protein Names

THUMP domain-containing protein 2

SAM-dependent methyltransferase

Related Diseases

Diseases Alias
Gingival Fibromatosis

Hereditary Gingival Fibromatosis

Hereditary Gingival Hyperplasia

Autosomal Dominant Gingival Fibromatosis

Autosomal Dominant Gingival Hyperplasia

Fibromatosis, Gingival, Hereditary

Fibromatosis, Gingival

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
Felis catus THUMPD2 VGNC VGNC:66179
Bos taurus THUMPD2 VGNC VGNC:35854
Mus musculus THUMPD2 MGD MGI:1919417
Canis familiaris THUMPD2 VGNC VGNC:47361
Macaca mulatta THUMPD2 VGNC VGNC:78384
Rattus norvegicus THUMPD2 RGD RGD:1306878