TGM5 (transglutaminase 5)

2015-02-01  

Identity

HGNC
TGM5
LOCATION
15q15.2
LOCUSID
9333
ALIAS
PSS2,TGASE5,TGASEX,TGM6,TGMX,TGX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9333
MIM: 603805
HGNC: 11781
Ensembl: ENSG00000104055

Variants:

dbSNP: 9333
ClinVar: 9333
TCGA: ENSG00000104055
COSMIC: TGM5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104055ENST00000220420O43548
ENSG00000104055ENST00000349114O43548
ENSG00000104055ENST00000610827A0A087WVW4
ENSG00000104055ENST00000611276A0A087WZC4
ENSG00000104055ENST00000622115A0A087WVS3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

References

Pubmed IDYearTitleCitations
326180012020Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.0
326180012020Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.0
255102012016Acral peeling skin syndrome resulting from mutations in TGM5.2
255102012016Acral peeling skin syndrome resulting from mutations in TGM5.2
256447352015Novel TGM5 mutations in acral peeling skin syndrome.5
256447352015Novel TGM5 mutations in acral peeling skin syndrome.5
246282912014Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.5
246282912014Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.5
245187132013Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population.1
245187132013Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population.1
220362142012A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.1
226224222012TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.10
231891552012Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.5
220362142012A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.1
226224222012TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.10

Citation

Dessen P

TGM5 (transglutaminase 5)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55043/tgm5-(transglutaminase-5)