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FLASH GENE

Symbol

KANK2

contributors: mct - updated : 13-12-2017

HGNC name	KN motif and ankyrin repeat domains 2
HGNC id	29300

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NPHS16 nephrotic syndrome 16 PPKWH palmoplantar keratoderma and woolly hair
Location	19p13.2      Physical location : 11.274.943 - 11.308.243
Synonym name	SRC-1 interacting protein
	matrix-remodelling associated 3
	ankyrin repeat domain 25
	SRC-1-interacting protein
	kidney ankyrin repeat-containing protein 2
Synonym symbol(s)	SIP, FLJ20004, KIAA1518, MGC119707, MXRA3, ANKRD25, DKFZp434N161

DNA

TYPE	functioning gene
STRUCTURE	33.30 kb     11 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015493 11 - 4966 NP_056308 - 859 - 2015 25961457 NM_001136191 13 - 5224 NP_001129663 - 851 - 2015 25961457 NM_001329451 - - 5207 NP_001316380 - 851 - 2015 25961457

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel       highly Mus musculus Digestive intestine small intestine     lowly   liver       highly Hearing/Equilibrium ear inner cochlea   highly Nervous nerve cranial nerve     highly Reproductive female system uterus     highly Urinary kidney       highly Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Mus musculus Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an ankyrin repeat domain (668
	836)
	a PEST (Proline, Glutamate, Serine, and Threonine rich) domain
	two additional conserved regions with unknown functions (residues 37
	72 and 176
	229)

HOMOLOGY

Homologene

FAMILY

KANK family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
text	in podocytes, was localized to foot processes

basic FUNCTION	functions to sequester SRC coactivators in the cytoplasm and buffer the availability of these coactivators, thus providing a mechanism for the regulation of the transcription regulators
	may contribute to controlling actin dynamics in podocyte foot processes
	KANK1, KANK2, kANK3, KANK4 were co-opted for vertebrate vascular development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	activates talin, reduces force transduction across integrins and induces central adhesion formation
	a stretch of ~22 amino acids in KIF21A is sufficient for binding to KANK1 and its close homolog KANK2, and solved the complex structure of the KIF21A peptide with either the KANK1 ankyrin domain or the KANK2 ankyrin domain

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NPHS16 , PPKWH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS