Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	124401
Gene name	Ankyrin repeat and sterile alpha motif domain containing 3
Gene symbol	ANKS3
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16p13.3

SNP ID	Visualize variation	Clinical significance	Consequence
rs1567280099	->G	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

11 Show/Hide all (11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022874	hsa-miR-124-3p	Microarray	18668037
MIRT2172079	hsa-miR-3127-5p	CLIP-seq
MIRT2172080	hsa-miR-3619-3p	CLIP-seq
MIRT2172081	hsa-miR-4705	CLIP-seq
MIRT2172082	hsa-miR-4776-5p	CLIP-seq
MIRT2172083	hsa-miR-4800-5p	CLIP-seq
MIRT2443721	hsa-miR-1256	CLIP-seq
MIRT2443722	hsa-miR-3180-5p	CLIP-seq
MIRT2443723	hsa-miR-3189-5p	CLIP-seq
MIRT2443724	hsa-miR-4758-3p	CLIP-seq
MIRT2443725	hsa-miR-764	CLIP-seq

6 Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24998259, 26188091
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0042995	Component	Cell projection	IEA

MIM	HGNC	e!Ensembl
617310	29422	ENSG00000168096

Q6ZW76

Protein name

Ankyrin repeat and SAM domain-containing protein 3

Protein function

May be involved in vasopressin signaling in the kidney.

PDB

4NJ8 , 4NL9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00536	SAM_1	424 → 486	SAM domain (Sterile alpha motif)	Domain
PF12796	Ank_2	39 → 132	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	131 → 199	Ankyrin repeats (3 copies)	Repeat
PF13637	Ank_4	135 → 189		Repeat

Sequence

MSELSDEASEPELLNRSLSMWHGLGTQVSGEELDVPLDLHTAASIGQYEVVKECVQRREL
DLNKKNGGGWTPLMYASYIGHDTIVHLLLEAGVSVNVPTPEGQTPLMLASSCGNESIAYF
LLQQGAELEMKDIQGWTALFHCTSAGHQHMVRFLLDSGANANVREPICGFTPLMEAAAAG
HEIIVQYFLNHGVKVDARDHSGATARMLAKQYGHMKIVALMDTYSPSLPKSLYRSPEKYE
DLSSSDESCPAPQRQRPCRKKGVSIHEGPRALARITGIGLGGRAPRPRYEQAPPRGYVTF
NSSGENPLEEEGLCCRDVTSPINERDVESSSSSSSREEHAFCANLGPVQSSSSSEGLARA
QGLSSEASVESNEDSDHACKSSARKQAKSYMKTKNPDSQWPPRAATDREGFLAESSPQTQ
RAPYSGPQDLAALLEQIGCLKYLQVFEEQDVDLRIFLTLTESDLKEIGITLFGPKRKMTS
AIARWHSSARPPGDALELAYADRLEAEMQELAIQLHKRCEEVEATRGQVCQEQELRAVVE
SCLLEQDRAREDLQARLRETWALARDAALVLDQLRACQAELSSRVRQDQPPGAATLGLAV
PPADSKGWQASLQAMSLPELSGALEDRVREMGQALCLVTQSLEKLQVLNGKKWRET

Sequence length

656

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature	Pathogenic	rs1567280099	RCV000736202	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (12)
ANKS3-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immune hydrops fetalis	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS	—	Disgenet Disgenet	27417436	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
Cystic kidney	Cystic Kidney Disease	BEFREE	29290488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	26039630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	25671767, 26188091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	29899363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	32994509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	ORPHANET_DG	27417436		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ANKS3 (ankyrin repeat and sterile alpha motif domain containing 3)

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