2. Gene
  3. KANK2 - KN motif and ankyrin repeat domains 2 Gene

KANK2 - KN motif and ankyrin repeat domains 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SIP; MXRA3; PPKWH; NPHS16; ANKRD25

Gene ID: 25959 | Gene type: protein coding

About KANK2

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,164,270-11,197,865 (from NCBI)

This gene has 13 transcripts (splice variants), 196 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 77.8), ovary (RPKM 51.9) and 21 other tissues.

Summary

This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]

KANK2 Products(19)

mRNA Protein Name
NM_001136191.3 NP_001129663.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001329451.2 NP_001316380.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379548.1 NP_001366477.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 1
NM_001379549.1 NP_001366478.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 1
NM_001379550.1 NP_001366479.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 1
NM_001379551.1 NP_001366480.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 1
NM_001379552.1 NP_001366481.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 1
NM_001379553.1 NP_001366482.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 1
NM_001379554.1 NP_001366483.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 1
NM_001379555.1 NP_001366484.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379556.1 NP_001366485.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379557.1 NP_001366486.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379558.1 NP_001366487.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379559.1 NP_001366488.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379560.1 NP_001366489.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379561.1 NP_001366490.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379562.1 NP_001366491.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_001379563.1 NP_001366492.1 KN motif and ankyrin repeat domain-containing protein 2 isoform 2
NM_015493.7 NP_056308.3 KN motif and ankyrin repeat domain-containing protein 2 isoform 1

KANK2 Protein Structure

KN_motif

KN_motif: KN motif (31 - 69)

Ank

Ank: Ankyrin repeat (666 - 691)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (717 - 801)

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  • 851 a.a.
Protein Preferred Names Protein Names

KN motif and ankyrin repeat domain-containing protein 2

SRC-interacting protein

Related Diseases

Diseases Alias
Palmoplantar Keratoderma And Woolly Hair

Woolly Hair-Palmoplantar Keratoderma Syndrome

PPKWH

Kwwh Type Iv

Keratoderma With Woolly Hair Type Iv

Woolly Hair-Palmoplantar Hyperkeratosis Syndrome

Keratoderma, Palmoplantar, And Woolly Hair
Nephrotic Syndrome, Type 16

Nephrotic Syndrome 16

NPHS16

Nephrotic Syndrome Type 16
Pseudoainhum
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Striate Palmoplantar Keratoderma

Keratosis Palmoplantaris Striata

Keratosis Palmoplantaris Striata Et Areata

Keratosis Palmoplantaris Varians Of Wachters
Spherocytosis, Type 2

Hereditary Spherocytosis Type 2

SPH2

Spherocytosis, Hereditary, 2

Hs2

Hereditary Spherocytosis 2

Spherocytosis 2

Spherocytosis, Type 2, Autosomal Dominant
Thyroid Dyshormonogenesis 5

TDH5

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 5

Thyroid Hormonogenesis, Genetic Defect In, 5

Genetic Defect In Thyroid Hormonogenesis 5

Chdh5

Congenital Hypothyroidism Due To Dyshormonogenesis Type 5

Genetic Defect In Thyroid Hormonogenesis Type 5
Nephrotic Syndrome, Type 21

NPHS21

Nephrotic Syndrome Type 21

Nephrotic Syndrome 21
Woolly Hair, Autosomal Dominant

Autosomal Dominant Woolly Hair

ADWH

Woolly Hair Autosomal Dominant
Nephrotic Syndrome, Type 3

NPHS3

Nephrotic Syndrome Type 3

Nephrotic Syndrome, Early-Onset, Type 3

Early Onset Nephrotic Syndrome Type 3

Nephrotic Syndrome 3

Early-Onset Nephrotic Syndrome Type 3
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome
Sneddon Syndrome

Livedo Reticularis And Cerebrovascular Accidents

SNDNS

Ehrmann-Sneddon Syndrome

Livedo Racemosa-Cerebrovascular Accident Syndrome

Livedo Reticularis-Cerebrovascular Accident Syndrome

Sneddon'S Syndrome

Idiopathic Livedo Reticularis With Systemic Involvement

Cerebro-Vascular Lesions And Livedo Reticularis

Livedo Racemosa And Cerebrovascular Accidents
Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia

ECTD4

Ectodermal Dysplasia, Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair/Nail Type

Hned

Hair-Nail Ectodermal Dysplasia

Phned

Ectodermal Dysplasia Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair-Nail Type

Dysplasia, Ectodermal, Type 4, Hair/Nail
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07064 KANK2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus KANK2 VGNC VGNC:63015
Mus musculus KANK2 MGD MGI:2384568
Bos taurus KANK2 VGNC VGNC:30390
Macaca mulatta KANK2 VGNC VGNC:73938
Rattus norvegicus KANK2 RGD RGD:2320289
Canis familiaris KANK2 VGNC VGNC:42201