SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genes →
FAT4 gene
URL of this page: https://medlineplus.gov/genetics/gene/fat4/

FAT4 gene

FAT atypical cadherin 4

Normal Function

The FAT4 gene provides instructions for making a protein that is found in most tissues. The protein spans the membrane surrounding cells so that part of the protein is outside the cell and part of the protein is inside the cell. The precise function of the FAT4 protein is largely unknown; however, research shows that the FAT4 protein is likely involved in determining the position of various components within cells (cell polarity). The FAT4 protein is also thought to function as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way.

Health Conditions Related to Genetic Changes

Hennekam syndrome

At least seven mutations in the FAT4 gene have been found to cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system, which consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The FAT4 gene mutations that cause Hennekam syndrome reduce the activity of the FAT4 protein, which seems to impair normal development of the lymphatic system. However, the mechanism is unknown. A poorly formed lymphatic system leads to lymphatic vessels that are abnormally expanded (lymphangiectasia) and are prone to break open (rupture), puffiness or swelling caused by a buildup of fluid (lymphedema), and other features of Hennekam syndrome. FAT4 gene mutations account for about 25 percent of all cases of Hennekam syndrome.

More About This Health Condition

Other disorders

Mutations in the FAT4 gene have also been found in individuals who have van Maldergem syndrome, a condition characterized by intellectual disability, hearing loss, skeletal abnormalities, and a brain malformation called periventricular heterotopia. The FAT4 gene mutations that cause van Maldergem syndrome lead to a decrease in FAT4 protein function. It is thought that a decrease in FAT4 protein activity in the brain disrupts the polarity of nerve cells in the brain, which leads to periventricular heterotopia.

It is unknown how mutations in the FAT4 gene can cause the signs and symptoms of van Maldergem syndrome in some people but lead to different signs and symptoms in those with Hennekam syndrome (described above). One mutation that replaces the protein building block (amino acid) glutamic acid with the amino acid lysine at position 2375 in the FAT4 protein (written as Glu2375Lys or E2375K) has been found in both individuals with van Maldergem syndrome and those with Hennekam syndrome.

FAT4 gene mutations have also been found in many types of cancers, including a type of skin cancer called head and neck squamous cell carcinoma, an aggressive form of skin cancer called melanoma, a liver cancer called hepatocellular carcinoma, stomach (gastric) cancer, and pancreatic cancer. The FAT4 gene mutations involved in these cancers are different from the ones that cause van Maldergem syndrome and Hennekam syndrome (described above). 

The FAT4 gene mutations associated with cancers are called somatic mutations; they are found only in cells that become cancerous and are not inherited. It is likely that these mutations prevent the FAT4 protein from acting as a tumor suppressor, contributing to the uncontrollable growth and division of cells that is characteristic of cancer. People with van Maldergem syndrome and Hennekam syndrome are not thought to have an increased risk of developing cancer.

Other Names for This Gene

  • cadherin family member 14
  • cadherin-related family member 11
  • CDHF14
  • CDHR11
  • FAT tumor suppressor homolog 4
  • FAT-J
  • fat-like cadherin protein FAT-J
  • FAT4_HUMAN
  • FATJ
  • NBLA00548
  • protocadherin Fat 4
  • VMLDS2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of FAT4 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • FAT ATYPICAL CADHERIN 4; FAT4

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

References

  • Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7. Citation on PubMed
  • Katoh M. Function and cancer genomics of FAT family genes (review). Int J Oncol. 2012 Dec;41(6):1913-8. doi: 10.3892/ijo.2012.1669. Epub 2012 Oct 17. Citation on PubMed or Free article on PubMed Central
  • Katoh Y, Katoh M. Comparative integromics on FAT1, FAT2, FAT3 and FAT4. Int J Mol Med. 2006 Sep;18(3):523-8. Citation on PubMed
DNA helix

Genomic Location

The FAT4 gene is found on chromosome 4.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated July 1, 2014
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP