SSUH2 (ssu-2 homolog)

2007-04-01  

Identity

HGNC
SSUH2
LOCATION
3p25.3
LOCUSID
51066
ALIAS
C3orf32,SSU-2,fls485

Other Information

Locus ID:

NCBI: 51066
MIM: 617479
HGNC: 24809
Ensembl: ENSG00000125046

Variants:

dbSNP: 51066
ClinVar: 51066
TCGA: ENSG00000125046
COSMIC: SSUH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125046ENST00000317371Q9Y2M2
ENSG00000125046ENST00000317371A0A024R2D2
ENSG00000125046ENST00000341795Q9Y2M2
ENSG00000125046ENST00000341795A0A024R2D2
ENSG00000125046ENST00000413305F8WED9
ENSG00000125046ENST00000415132C9JAQ0
ENSG00000125046ENST00000420394F8WDV4
ENSG00000125046ENST00000435138G5E9S6
ENSG00000125046ENST00000455157F8WDP2
ENSG00000125046ENST00000544814Q9Y2M2

Expression (GTEx)

0
5
10
15
20
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

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
276805072017Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.16
276805072017Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.16
202059432010Small intestinal mucosa expression of putative chaperone fls485.2
202059432010Small intestinal mucosa expression of putative chaperone fls485.2

Citation

Dessen P

SSUH2 (ssu-2 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47299/ssuh2