SYNE4 (spectrin repeat containing nuclear envelope family member 4)

2014-11-01  

Identity

HGNC
SYNE4
LOCATION
19q13.12
LOCUSID
163183
ALIAS
C19orf46,DFNB76,KASH4,Nesp4

Other Information

Locus ID:

NCBI: 163183
MIM: 615535
HGNC: 26703
Ensembl: ENSG00000181392

Variants:

dbSNP: 163183
ClinVar: 163183
TCGA: ENSG00000181392
COSMIC: SYNE4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181392ENST00000324444Q8N205
ENSG00000181392ENST00000340477Q8N205
ENSG00000181392ENST00000397428H9KVA3
ENSG00000181392ENST00000490730D6RAE3
ENSG00000181392ENST00000503121H0Y9Z1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
233487412013The LINC complex is essential for hearing.100
233487412013The LINC complex is essential for hearing.100

Citation

Dessen P

SYNE4 (spectrin repeat containing nuclear envelope family member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74414/syne4-(spectrin-repeat-containing-nuclear-envelope-family-member-4)