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KRT82

Synonyms
HB2, Hb-2, KRTHB2
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. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin.

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
19
Likely pathogenic
132
VUS
1,514
Likely benign
88
Benign
0

Patient Phenotypes

Proportions of phenotypes among 151 patients carrying pathogenic or likely pathogenic variants on KRT82 gene are displayed below. The following symptoms were found in patients with a variant in KRT82. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.1%
Abnormality of the cardiovascular system
21.2%
Abnormality of the musculoskeletal system
18.5%
Abnormality of the ear
16.6%
Abnormality of the eye
15.9%
Abnormality of head or neck
14.6%
Growth abnormality
10.6%
Abnormality of the genitourinary system
8.6%
Abnormality of blood and blood forming tissues
7.3%
Abnormality of metabolism homeostasis
6.6%
Abnormality of the integument
5.3%
Abnormality of the immune system
4.6%
Abnormality of limbs
4%
Abnormality of the digestive system
3.3%
Abnormality of the endocrine system
1.3%
Abnormality of the respiratory system
1.3%
Neoplasm
1.3%
Abnormal cellular phenotype
0.7%
Abnormality of prenatal development or birth
0.7%
Constitutional symptom
0.7%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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