Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3730
Gene name Gene Name - the full gene name approved by the HGNC.	Anosmin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ANOS1
Synonyms (NCBI Gene) Gene synonyms aliases	ADMLX, HH1, HHA, KAL, KAL1, KALIG-1, KMS, WFDC19
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.31
Summary Summary of gene provided in NCBI Entrez Gene.	Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-

Show/Hide all(30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852512	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852513	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852514	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852515	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852516	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852517	G>A	Pathogenic	Coding sequence variant, missense variant
rs144586521	C>A,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs387906427	C>A	Pathogenic	Splice donor variant
rs397518425	A>-	Pathogenic	Splice donor variant, genic downstream transcript variant
rs606231409	T>A,C	Pathogenic	Missense variant, initiator codon variant
rs727505374	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs747010865	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs773138384	C>T	Likely-pathogenic	Intron variant
rs886039395	G>A,T	Pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs932845258	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519418	T>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057520209	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520210	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1064796777	C>A	Pathogenic	Coding sequence variant, stop gained
rs1131691560	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691863	C>T	Pathogenic	Initiator codon variant, missense variant
rs1404298787	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555893221	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555904591	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555904596	->AGCAGCCGCGC	Pathogenic	Frameshift variant, coding sequence variant
rs1569059249	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601946139	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1601965037	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601988004	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602050730	GC>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(33)

miRTarBase ID	miRNA	Experiments	Reference
MIRT740253	hsa-miR-3678-5p	HITS-CLIP	19536157
MIRT740254	hsa-miR-3183	HITS-CLIP	19536157
MIRT740255	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT740256	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT740257	hsa-miR-3605-3p	HITS-CLIP	19536157
MIRT740258	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT740259	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT740253	hsa-miR-3678-5p	HITS-CLIP	19536157
MIRT740254	hsa-miR-3183	HITS-CLIP	19536157
MIRT740255	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT740256	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT740257	hsa-miR-3605-3p	HITS-CLIP	19536157
MIRT740258	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT740259	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT740253	hsa-miR-3678-5p	HITS-CLIP	19536157
MIRT740254	hsa-miR-3183	HITS-CLIP	19536157
MIRT740255	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT740256	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT740257	hsa-miR-3605-3p	HITS-CLIP	19536157
MIRT740258	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT740259	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT741981	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT741982	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT741983	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT741984	hsa-miR-4801	HITS-CLIP	23824327
MIRT741985	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT754476	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT754477	hsa-miR-3925-5p	PAR-CLIP	22012620
MIRT754478	hsa-miR-5003-5p	PAR-CLIP	22012620
MIRT754479	hsa-miR-3919	PAR-CLIP	22012620
MIRT754480	hsa-miR-146a-5p	PAR-CLIP	22012620
MIRT754481	hsa-miR-146b-5p	PAR-CLIP	22012620
MIRT754482	hsa-miR-7153-5p	PAR-CLIP	22012620

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005201	Function	Extracellular matrix structural constituent	TAS	8842728
GO:0005515	Function	Protein binding	IPI	19696444, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	8842728
GO:0005886	Component	Plasma membrane	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0006935	Process	Chemotaxis	TAS	8842728
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	1913827, 1922361
GO:0007411	Process	Axon guidance	TAS	1922361
GO:0008201	Function	Heparin binding	IEA
GO:0009986	Component	Cell surface	IBA
GO:0016020	Component	Membrane	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	TAS	8832397

MIM	HGNC	e!Ensembl
300836	6211	ENSG00000011201

Protein

UniProt ID

P23352

Protein name

Anosmin-1 (Adhesion molecule-like X-linked) (Kallmann syndrome protein)

Protein function

Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells. {ECO:00002

PDB

1ZLG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17869	Cys_box	44 → 125	Anosmin cysteine rich domain	Domain
PF00095	WAP	130 → 175		Domain
PF00041	fn3	185 → 275	Fibronectin type III domain	Domain
PF00041	fn3	291 → 384	Fibronectin type III domain	Domain
PF00041	fn3	549 → 646	Fibronectin type III domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the cerebellum (at protein level). {ECO:0000269|PubMed:12007408}.

Sequence

MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITR
ISAFFQHFQNNGSLVWCQNHKQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSC
EFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGVKKCCSNGCGHTCQVPKTLYK
GVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLAN
STVNSDGSVTVTIVWDLPEEPDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVI
LEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPF
QRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSG
MTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEA
GHVLSKVLAKPENLSASFIVQDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNS
LPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPGGEGPATIKTFRTPELPPSSA
HRSHLKHRHPHHYKPSPERY

Sequence length

680

Interactions

View interactions

	Reactome
			FGFR1c ligand binding and activation Negative regulation of FGFR1 signaling

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypogonadotropic Hypogonadism	hypogonadotropic hypogonadism	rs1601946139	N/A
Hypogonadotropic Hypogonadism With Or Without Anosmia	Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia	rs727505374, rs1602050730, rs137852514, rs886039395, rs1601946139, rs2146817110, rs137852515, rs1057519418, rs1601965037, rs2146819139, rs1057520209, rs1601988004, rs2146919315, rs1057520210, rs137852516 View all (10 more)	N/A
Martsolf Syndrome	Martsolf syndrome 1	rs886039395	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Kallmann Syndrome	Kallmann syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	21288827
Adrenoleukodystrophy	Associate	10670750
Allanson Pantzar McLeod syndrome	Associate	17603054
Amenorrhea	Associate	21247312
Anodontia	Associate	36039580
Autism Spectrum Disorder	Associate	30392976
Colorectal Neoplasms	Associate	28854193
Congenital anosmia	Associate	29255181
Cryptorchidism	Associate	23721716, 36039580
Disorders of Sex Development	Associate	35432193
Drug Hypersensitivity	Associate	25339597
Ectrodactyly	Associate	25339597
Endocrine System Diseases	Associate	38437850
Epilepsy	Associate	23418513
Esophageal Squamous Cell Carcinoma	Associate	12901795
Glycosuria Renal	Associate	23721716
GSD IV Neuromuscular Form Fatal Perinatal	Associate	10670750
Hemochromatosis	Associate	40508017
Hereditary renal agenesis	Associate	11456260, 17603054
HIV Infections	Associate	21288827
HIV Infections	Inhibit	28398593
Hyperlipidemia Familial Combined	Associate	1619366
Hyperlipoproteinemia Type I	Associate	1619366
Hypersensitivity Delayed	Stimulate	21288827
Hypersensitivity Delayed	Associate	21288827
Hypogonadism	Associate	18985070, 21300340, 21717404, 23341491, 25339597, 30098700, 31996231, 32982993, 34348883, 35574646, 35669683, 36039580, 36268624, 38437850, 40508017
Ichthyosis	Associate	17603054
Ichthyosis X Linked	Associate	24204987
Idiopathic Hypogonadotropic Hypogonadism	Associate	16500342, 18463157, 19829004, 20382682, 21247312, 24002956, 25226293, 33775534, 35090434
Infertility	Associate	21168128
Intellectual Disability	Associate	21288827, 25339597
Intestinal Diseases	Inhibit	17071588
Kallmann Syndrome	Associate	10340754, 10670750, 11456260, 16606836, 17603054, 18463157, 18723471, 18834967, 18985070, 21042300, 21168128, 21247312, 21300340, 21682876, 21717404 View all (12 more)
Kallmann Syndrome 2 with Bimanual Synkinesia	Associate	17603054, 23533228, 23721716, 36039580
Kidney Diseases	Associate	33120852
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	35849255
Muscular Dystrophy Duchenne	Associate	3347492
Olfaction Disorders	Associate	23721716, 25339597
Progressive hearing loss stapes fixation	Associate	23410897
Rare Diseases	Associate	26548314
Reflex Abnormal	Associate	36268624
Solitary Kidney	Associate	10670750, 26051373, 36039580
Stomach Neoplasms	Associate	37036489
Stroke	Associate	32785988
Syndactyly	Associate	26051373
Ureteral Obstruction	Associate	33120852
Urinary Bladder Diseases	Associate	33120852
Urogenital Abnormalities	Associate	25339597
Urologic Diseases	Associate	33120852

ANOS1 (anosmin 1)