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KANK2 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KANK2 gene

The KANK2 gene provides instructions for making a protein that regulates gene activity and is associated with specific skin, hair, and kidney conditions.

Normal Function

The KANK2 gene provides instructions for making a protein called SRC-interacting protein (SIP). SIP regulates proteins called steroid receptor coactivators (SRCs), which play critical roles in activating certain genes. Within cells, SIP attaches (binds) to SRCs in the fluid surrounding the nucleus (the cytoplasm). By holding SRCs in the cytoplasm, SIP prevents these proteins from entering the nucleus to activate genes, thereby helping to control gene activity.

SIP is found in many organs and tissues, including the skin and kidneys. Little is known about its specific roles in various parts of the body.

Health Conditions Related to Genetic Changes

Keratoderma with woolly hair

At least one mutation in the KANK2 gene has been found to cause a form of keratoderma with woolly hair classified as type IV. It is characterized by:

  • Thick, calloused skin on the palms of the hands and soles of the feet (palmoplantar keratoderma)
  • Coarse, dry, fine, tightly curled, and sparse scalp hair
  • Abnormal fingernails and toenails

Unlike other forms of keratoderma with woolly hair, type IV does not appear to cause heart disease. The identified mutation replaces the amino acid alanine with valine at position 670 (Ala670Val or A670V). Researchers predict this affects a region of SIP critical for its interaction with SRCs, leading to changes in gene activity, though it is unclear why the effects are limited to skin and hair tissues.

Other disorders

At least two other mutations in the KANK2 gene have been identified in families with a form of kidney disease called nephrotic syndrome. This condition is characterized by an inability of the kidneys to filter waste products from blood, leading to protein in the urine, swelling (edema), and possible kidney failure. Research shows that SIP is necessary for the normal function of kidney cells called podocytes, which are critical for filtering waste. It is unclear why some mutations affect the skin and hair while others affect the kidneys, though researchers suspect the mutations may occur in different areas of the gene.

Frequently Asked Questions

Management is largely symptomatic. Regular use of thick, emollient moisturizers and keratolytic agents (e.g., urea 10‑20 % creams) can soften palmoplantar calluses. For woolly hair, gentle hair care, low‑tension styling, and occasional use of mild conditioners help reduce breakage. In severe cases, a dermatologist may prescribe topical retinoids or consider laser therapy for hyperkeratosis.
Yes. Although the A670V mutation is not linked to cardiac issues, other KANK2 variants have been associated with kidney disease. Baseline renal function tests (serum creatinine, eGFR) and urinalysis are advisable, followed by periodic monitoring (e.g., annually) to catch any early signs of nephropathy.
Request a targeted KANK2 sequencing panel or a comprehensive skin‑disorder gene panel that includes KANK2. The test looks for the known Ala670Val (A670V) missense mutation and other pathogenic variants. A blood sample is usually sufficient, and results typically return in 2‑4 weeks.
KANK2‑related keratoderma with woolly hair type IV follows an autosomal‑dominant pattern. Each child of an affected parent has a 50 % chance of inheriting the mutation. If the mutation arose de novo (new in the patient), the risk to siblings is low, but the patient’s own children are still at 50 % risk. Genetic counseling is recommended.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.