KANK2

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What is the official name of the KANK2 gene?

The official name of this gene is “KN motif and ankyrin repeat domains 2.”

KANK2 is the gene's official symbol. The KANK2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the KANK2 gene?

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 turning on (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. In this way, SIP helps 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.

Does the KANK2 gene share characteristics with other genes?

The KANK2 gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the KANK2 gene related to health conditions?

keratoderma with woolly hair - caused by mutations in the KANK2 gene: 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; and abnormal fingernails and toenails. Unlike other forms of keratoderma with woolly hair, type IV does not appear to cause heart disease.
The identified mutation changes a single protein building block (amino acid) in SIP, replacing the amino acid alanine with the amino acid valine at position 670 (written as Ala670Val or A670V). Researchers predict that this mutation affects a region of SIP that is critical for its interaction with SRCs, which would ultimately lead to changes in gene activity. However, it is unclear how this mutation affects growth of the hair and skin, or why its effects appear to be limited to these tissues.
other disorders - caused by mutations in the KANK2 gene: 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, which leads to protein in the urine, swelling (edema), and possible kidney failure. Both of the KANK2 gene mutations associated with this condition change single amino acids in SIP. These changes are predicted to impair the function of the protein. Research shows that SIP is necessary for the normal function of kidney cells called podocytes, which are critical for filtering waste products from the blood. However, it is unknown exactly how an altered SIP protein affects podocyte function.
It is unclear why some KANK2 gene mutations affect the skin and hair, while others affect the kidneys. Researchers suspect that the mutations may occur in different areas of the gene and have different effects on SIP structure and function.

Where is the KANK2 gene located?

Cytogenetic Location: 19p13.2

Molecular Location on chromosome 19: base pairs 11,164,267 to 11,197,567

The KANK2 gene is located on the short (p) arm of chromosome 19 at position 13.2.

More precisely, the KANK2 gene is located from base pair 11,164,267 to base pair 11,197,567 on chromosome 19.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about KANK2?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (4 links)

What other names do people use for the KANK2 gene or gene products?

ANKRD25
ankyrin repeat domain 25
ankyrin repeat domain-containing protein 25
KIAA1518
kidney ankyrin repeat-containing protein 2
matrix-remodeling-associated protein 3
matrix-remodelling associated 3
MXRA3
PPKWH
SIP
SRC1-interacting protein
SRC-1 interacting protein
SRC-1-interacting protein
SRC-interacting protein

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding KANK2?

acids ; alanine ; amino acid ; cytoplasm ; domain ; edema ; gene ; keratoderma ; kidney ; motif ;mutation ; nucleus ; palmoplantar keratoderma ; protein ; receptor ; syndrome ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (6 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook