TCHH (trichohyalin)

2014-11-01 Affiliation

Identity

HGNC

TCHH

LOCATION

1q21.3

LOCUSID

7062

ALIAS

THH,THL,TRHY,UHS3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7062
MIM: 190370
HGNC: 11791
Ensembl: ENSG00000159450

Variants:

dbSNP: 7062
ClinVar: 7062
TCGA: ENSG00000159450
COSMIC: TCHH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000159450	ENST00000368804	Q07283
ENSG00000159450	ENST00000614923	Q07283

Expression (GTEx)

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

Pathway	Source	External ID
Developmental Biology	REACTOME	R-HSA-1266738
Keratinization	REACTOME	R-HSA-6805567
Formation of the cornified envelope	REACTOME	R-HSA-6809371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20585627	2010	Web-based, participant-driven studies yield novel genetic associations for common traits.	155
19896111	2009	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	103
19896111	2009	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	103
27866708	2016	Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.	18
20722389	2010	Trichohyalin is a potential major autoantigen in human alopecia areata.	11
27487801	2016	Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations.	8
27460132	2016	Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.	2
18643848	2009	Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.	0
18643848	2009	Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.	0

Citation

Dessen P

TCHH (trichohyalin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74583/tchh