• Gene id: 256949

Gene Summary

• Gene Symbol: KANK3   Gene   UCSC   Ensembl
• Aliases: ANKRD47
• Gene name: KN motif and ankyrin repeat domains 3
• Alternate names: KN motif and ankyrin repeat domain-containing protein 3, ankyrin repeat domain 47, ankyrin repeat domain-containing protein 47, kidney ankyrin repeat-containing protein 3,
• Gene location: 19p13.2 (8343261: 8322583)     Exons: 14     NC_000019.10
• OMIM: 614611

Protein Summary

• Protein general information: Q6NY19  
  • Name: KN motif and ankyrin repeat domain containing protein 3 (Ankyrin repeat domain containing protein 47)
  • Length: 840  
  • Mass: 88425
  • Tissue specificity: Strongly expressed in breast, liver, lung, skeletal muscle and kidney. {ECO
• Sequence:

  MAKFALNQNLPDLGGPRLCPVPAAGGARSPSSPYSVETPYGFHLDLDFLKYIEELERGPAARRAPGPPTSRRPRA
  PRPGLAGARSPGAWTSSESLASDDGGAPGILSQGAPSGLLMQPLSPRAPVRNPRVEHTLRETSRRLELAQTHERA
  PSPGRGVPRSPRGSGRSSPAPNLAPASPGPAQLQLVREQMAAALRRLRELEDQARTLPELQEQVRALRAEKARLL
  AGRAQPEPDGEAETRPDKLAQLRRLTERLATSERGGRARASPRADSPDGLAAGRSEGALQVLDGEVGSLDGTPQT
  REVAAEAVPETREAGAQAVPETREAGVEAAPETVEADAWVTEALLGLPAAAERELELLRASLEHQRGVSELLRGR
  LRELEEAREAAEEAAAGARAQLREATTQTPWSCAEKAAQTESPAEAPSLTQESSPGSMDGDRAVAPAGILKSIMK
  KRDGTPGAQPSSGPKSLQFVGVLNGEYESSSSEDASDSDGDSENGGAEPPGSSSGSGDDSGGGSDSGTPGPPSGG
  DIRDPEPEAEAEPQQVAQGRCELSPRLREACVALQRQLSRPRGVASDGGAVRLVAQEWFRVSSQRRSQAEPVARM
  LEGVRRLGPELLAHVVNLADGNGNTALHYSVSHGNLAIASLLLDTGACEVNRQNRAGYSALMLAALTSVRQEEED
  MAVVQRLFCMGDVNAKASQTGQTALMLAISHGRQDMVATLLACGADVNAQDADGATALMCASEYGRLDTVRLLLT
  QPGCDPAILDNEGTSALAIALEAEQDEVAALLHAHLSSGQPDTQAGVQRHNLSSLQPPPPRFKKFSCLSLPSSWD
  YNSCEPSRLAQLTIF

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR021939  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000328923
• Other Databases: GeneCards:  KANK3  Malacards:  KANK3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030837	negative regulation of actin filament polymerization	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq