ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)

2014-11-01  

Identity

HGNC
ELFN1
LOCATION
7p22.3
LOCUSID
392617
ALIAS
PPP1R28

Other Information

Locus ID:

NCBI: 392617
MIM: 614964
HGNC: 33154
Ensembl: ENSG00000225968

Variants:

dbSNP: 392617
ClinVar: 392617
TCGA: ENSG00000225968
COSMIC: ELFN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000225968ENST00000424383P0C7U0
ENSG00000225968ENST00000561626P0C7U0

Expression (GTEx)

0
5
10
15
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

References

Pubmed IDYearTitleCitations
345096752021Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.2
345096752021Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.2
296860622018Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans.35
296860622018Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans.35
250475652014Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.61
250475652014Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.61

Citation

Dessen P

ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62791/elfn1-(extracellular-leucine-rich-repeat-and-fibronectin-type-iii-domain-containing-1)