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KRT85

Synonyms
ECTD4, HB5, Hb-5, K85, KRTHB5, hHb5
External resources
Summary
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
20
Likely pathogenic
0
VUS
794
Likely benign
1,018
Benign
0

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on KRT85 gene are displayed below. The following symptoms were found in patients with a variant in KRT85. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of head or neck
20%
Abnormality of metabolism homeostasis
20%
Abnormality of the cardiovascular system
10%
Abnormality of the ear
10%
Abnormality of the eye
10%
Abnormality of the immune system
10%
Abnormality of the musculoskeletal system
10%
Growth abnormality
10%
Abnormality of blood and blood forming tissues
5%
Abnormality of limbs
5%
Abnormality of the digestive system
5%
Abnormality of the endocrine system
5%
Abnormality of the genitourinary system
5%
Abnormality of the integument
5%
Abnormality of the respiratory system
5%
Neoplasm
5%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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