KANK3 (KN motif and ankyrin repeat domains 3)

Gene

• Entrez ID: 256949
• Gene name: KN motif and ankyrin repeat domains 3
• Gene symbol: KANK3
• Synonyms (NCBI Gene): ANKRD47
• Chromosome: 19
• Chromosome location: 19p13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1078568	hsa-miR-134	CLIP-seq
MIRT1078569	hsa-miR-151-5p	CLIP-seq
MIRT1078570	hsa-miR-151b	CLIP-seq
MIRT1078571	hsa-miR-3118	CLIP-seq
MIRT1078572	hsa-miR-3136-5p	CLIP-seq
MIRT1078573	hsa-miR-3150b-3p	CLIP-seq
MIRT1078574	hsa-miR-3929	CLIP-seq
MIRT1078575	hsa-miR-4419b	CLIP-seq
MIRT1078576	hsa-miR-4439	CLIP-seq
MIRT1078577	hsa-miR-4478	CLIP-seq
MIRT1078578	hsa-miR-4513	CLIP-seq
MIRT1078579	hsa-miR-4784	CLIP-seq
MIRT1078568	hsa-miR-134	CLIP-seq
MIRT1078569	hsa-miR-151-5p	CLIP-seq
MIRT1078570	hsa-miR-151b	CLIP-seq
MIRT1078571	hsa-miR-3118	CLIP-seq
MIRT1078572	hsa-miR-3136-5p	CLIP-seq
MIRT1078573	hsa-miR-3150b-3p	CLIP-seq
MIRT1078574	hsa-miR-3929	CLIP-seq
MIRT1078575	hsa-miR-4419b	CLIP-seq
MIRT1078576	hsa-miR-4439	CLIP-seq
MIRT1078577	hsa-miR-4478	CLIP-seq
MIRT1078578	hsa-miR-4513	CLIP-seq
MIRT1078579	hsa-miR-4784	CLIP-seq
MIRT1078568	hsa-miR-134	CLIP-seq
MIRT1078569	hsa-miR-151-5p	CLIP-seq
MIRT1078570	hsa-miR-151b	CLIP-seq
MIRT1078571	hsa-miR-3118	CLIP-seq
MIRT1078572	hsa-miR-3136-5p	CLIP-seq
MIRT1078574	hsa-miR-3929	CLIP-seq
MIRT1078575	hsa-miR-4419b	CLIP-seq
MIRT1078576	hsa-miR-4439	CLIP-seq
MIRT1078577	hsa-miR-4478	CLIP-seq
MIRT1078578	hsa-miR-4513	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005856	Component	Cytoskeleton	IBA
GO:0030837	Process	Negative regulation of actin filament polymerization	IBA
GO:0030837	Process	Negative regulation of actin filament polymerization	IEA

Other IDs

• MIM: 614611
• HGNC: 24796
• e!Ensembl: ENSG00000186994

Protein

• UniProt ID: Q6NY19
• Protein name: KN motif and ankyrin repeat domain-containing protein 3 (Ankyrin repeat domain-containing protein 47)
• Protein function: May be involved in the control of cytoskeleton formation by regulating actin polymerization.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12075	KN_motif	33 → 74	KN motif	Motif
  PF12796	Ank_2	599 → 691	Ankyrin repeats (3 copies)	Repeat
  PF13857	Ank_5	715 → 770		Repeat

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in breast, liver, lung, skeletal muscle and kidney. {ECO:0000269|PubMed:17996375}.
• Sequence:

  MAKFALNQNLPDLGGPRLCPVPAAGGARSPSSPYSVETPYGFHLDLDFLKYIEELERGPA
  ARRAPGPPTSRRPRAPRPGLAGARSPGAWTSSESLASDDGGAPGILSQGAPSGLLMQPLS
  PRAPVRNPRVEHTLRETSRRLELAQTHERAPSPGRGVPRSPRGSGRSSPAPNLAPASPGP
  AQLQLVREQMAAALRRLRELEDQARTLPELQEQVRALRAEKARLLAGRAQPEPDGEAETR
  PDKLAQLRRLTERLATSERGGRARASPRADSPDGLAAGRSEGALQVLDGEVGSLDGTPQT
  REVAAEAVPETREAGAQAVPETREAGVEAAPETVEADAWVTEALLGLPAAAERELELLRA
  SLEHQRGVSELLRGRLRELEEAREAAEEAAAGARAQLREATTQTPWSCAEKAAQTESPAE
  APSLTQESSPGSMDGDRAVAPAGILKSIMKKRDGTPGAQPSSGPKSLQFVGVLNGEYESS
  SSEDASDSDGDSENGGAEPPGSSSGSGDDSGGGSDSGTPGPPSGGDIRDPEPEAEAEPQQ
  VAQGRCELSPRLREACVALQRQLSRPRGVASDGGAVRLVAQEWFRVSSQRRSQAEPVARM
  LEGVRRLGPELLAHVVNLADGNGNTALHYSVSHGNLAIASLLLDTGACEVNRQNRAGYSA
  LMLAALTSVRQEEEDMAVVQRLFCMGDVNAKASQTGQTALMLAISHGRQDMVATLLACGA
  DVNAQDADGATALMCASEYGRLDTVRLLLTQPGCDPAILDNEGTSALAIALEAEQDEVAA
  LLHAHLSSGQPDTQAGVQRHNLSSLQPPPPRFKKFSCLSLPSSWDYNSCEPSRLAQLTIF
  

• Sequence length: 840

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hypoxia	Hypoxia	Pubtator	25961455	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29047187		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29047187		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29047187		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34764646	Associate	★☆☆☆☆ Found in Text Mining only