FAM83H (family with sequence similarity 83 member H)

2014-07-01  

Identity

HGNC
FAM83H
LOCATION
8q24.3
LOCUSID
286077
ALIAS
AI3,AI3A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 286077
MIM: 611927
HGNC: 24797
Ensembl: ENSG00000180921

Variants:

dbSNP: 286077
ClinVar: 286077
TCGA: ENSG00000180921
COSMIC: FAM83H

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180921ENST00000388913Q6ZRV2
ENSG00000180921ENST00000395103J3KPS2
ENSG00000180921ENST00000650760A0A494C1T9

Expression (GTEx)

0
50
100
150
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
233555232013Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.22
224147462012Molecular characterization of amelogenesis imperfecta in Chinese patients.11
312154992019FAM83H is involved in stabilization of β-catenin and progression of osteosarcomas.5
182522282008FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.0
184846292008Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.0
192203312009Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.0
194071572009Phenotypic variation in FAM83H-associated amelogenesis imperfecta.0
198250392009Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.0
198288852009Fam83h is associated with intracellular vesicles and ADHCAI.0
201604422010Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.0

Citation

Dessen P

FAM83H (family with sequence similarity 83 member H)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54078/fam83h