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

Gene

• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 617310
• HGNC: 29422
• e!Ensembl: ENSG00000168096

Protein

• UniProt ID: 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
  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
  PF00536	SAM_1	424 → 486	SAM domain (Sterile alpha motif)	Domain

• Sequence:

  MSELSDEASEPELLNRSLSMWHGLGTQVSGEELDVPLDLHTAASIGQYEVVKECVQRREL
  DLNKKNGGGWTPLMYASYIGHDTIVHLLLEAGVSVNVPTPEGQTPLMLASSCGNESIAYF
  LLQQGAELEMKDIQGWTALFHCTSAGHQHMVRFLLDSGANANVREPICGFTPLMEAAAAG
  HEIIVQYFLNHGVKVDARDHSGATARMLAKQYGHMKIVALMDTYSPSLPKSLYRSPEKYE
  DLSSSDESCPAPQRQRPCRKKGVSIHEGPRALARITGIGLGGRAPRPRYEQAPPRGYVTF
  NSSGENPLEEEGLCCRDVTSPINERDVESSSSSSSREEHAFCANLGPVQSSSSSEGLARA
  QGLSSEASVESNEDSDHACKSSARKQAKSYMKTKNPDSQWPPRAATDREGFLAESSPQTQ
  RAPYSGPQDLAALLEQIGCLKYLQVFEEQDVDLRIFLTLTESDLKEIGITLFGPKRKMTS
  AIARWHSSARPPGDALELAYADRLEAEMQELAIQLHKRCEEVEATRGQVCQEQELRAVVE
  SCLLEQDRAREDLQARLRETWALARDAALVLDQLRACQAELSSRVRQDQPPGAATLGLAV
  PPADSKGWQASLQAMSLPELSGALEDRVREMGQALCLVTQSLEKLQVLNGKKWRET

• Sequence length: 656

Associated diseases

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)

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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