FTCD (formimidoyltransferase cyclodeaminase)

2016-10-01  

Identity

HGNC
FTCD
LOCATION
21q22.3
LOCUSID
10841
ALIAS
LCHC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10841
MIM: 606806
HGNC: 3974
Ensembl: ENSG00000160282

Variants:

dbSNP: 10841
ClinVar: 10841
TCGA: ENSG00000160282
COSMIC: FTCD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160282ENST00000291670O95954
ENSG00000160282ENST00000397743B7WPK3
ENSG00000160282ENST00000397746O95954
ENSG00000160282ENST00000397748O95954
ENSG00000160282ENST00000446405H7C315

Expression (GTEx)

0
50
100
150
200
250
300
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
Histidine metabolismKEGGko00340
One carbon pool by folateKEGGko00670
Histidine metabolismKEGGhsa00340
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Histidine catabolismREACTOMER-HSA-70921
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
202090572010Scyl1 regulates Golgi morphology.26
190486312009Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.20
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
128155952003The molecular basis of glutamate formiminotransferase deficiency.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
204949802010Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.10
246860832014Using a yeast two-hybrid system to identify FTCD as a new regulator for HIF-1α in HepG2 cells.5

Citation

Dessen P

FTCD (formimidoyltransferase cyclodeaminase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56429/ftcd