ANOS1 (anosmin 1)

2015-04-01  

Identity

HGNC
ANOS1
LOCATION
Xp22.31
LOCUSID
3730
ALIAS
ADMLX,HH1,HHA,KAL,KAL1,KALIG-1,KMS,WFDC19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3730
MIM: 300836
HGNC: 6211
Ensembl: ENSG00000011201

Variants:

dbSNP: 3730
ClinVar: 3730
TCGA: ENSG00000011201
COSMIC: ANOS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011201ENST00000262648P23352

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

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by FGFRREACTOMER-HSA-190236
Signaling by FGFR1REACTOMER-HSA-5654736
FGFR1 ligand binding and activationREACTOMER-HSA-190242
FGFR1c ligand binding and activationREACTOMER-HSA-190373
Negative regulation of FGFR1 signalingREACTOMER-HSA-5654726

References

Pubmed IDYearTitleCitations
368592762023Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.1
368592762023Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.1
360395802022ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.0
360395802022ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.0
340621692021Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.10
340621692021Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.10
313778802020Serum levels of ANOS1 serve as a diagnostic biomarker of gastric cancer: a prospective multicenter observational study.14
316696402020A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings.3
313778802020Serum levels of ANOS1 serve as a diagnostic biomarker of gastric cancer: a prospective multicenter observational study.14
316696402020A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings.3
292119462018A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.2
292220412018TAp73 inhibits cell invasion and migration by directly activating KAI1 expression in colorectal carcinoma.11
292119462018A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.2
292220412018TAp73 inhibits cell invasion and migration by directly activating KAI1 expression in colorectal carcinoma.11
281228872017Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.16

Citation

Dessen P

ANOS1 (anosmin 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-04-01

Online version: http://atlasgeneticsoncology.org/gene/55176