FAM126A (family with sequence similarity 126 member A)

2014-11-01  

Identity

HGNC
FAM126A
LOCATION
7p15.3
LOCUSID
84668
ALIAS
DRCTNNB1A,HCC,HLD5,HYCC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84668
MIM: 610531
HGNC: 24587
Ensembl: ENSG00000122591

Variants:

dbSNP: 84668
ClinVar: 84668
TCGA: ENSG00000122591
COSMIC: FAM126A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122591ENST00000409763B8ZZA2
ENSG00000122591ENST00000409923Q9BYI3
ENSG00000122591ENST00000432176Q9BYI3
ENSG00000122591ENST00000440481H7C0W7

Expression (GTEx)

0
5
10
15
20
25
30
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
265712112016The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.20
169516822006Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.14
244177972014Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum.8
239989342013Novel FAM126A mutations in hypomyelination and congenital cataract disease.3
179288152008A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.2
219116992011Hypomyelination and congenital cataract: broadening the clinical phenotype.1
301033152018TTC7 and Hyccin Regulate Neuronal Aβ42 Accumulation and its Associated Neural Deficits in Aβ42-Expressing Drosophila.1
227497242013Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.0

Citation

Dessen P

FAM126A (family with sequence similarity 126 member A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63010/fam126a