ANOS1 (anosmin 1)

2015-04-01  

Identity

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

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

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
126272302003Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.196
150015912004Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.48
186825032008Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
220165232011FGF-2 and Anosmin-1 are selectively expressed in different types of multiple sclerosis lesions.37
235332282013Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.33
154718902004The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.32
155486532004Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism.32
196964442009Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.30
216828762011Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.28

Citation

Dessen P

ANOS1 (anosmin 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-04-01

Online version: http://atlasgeneticsoncology.org/gene/55176/anos1