Home > Gene Browser > MORC2

MORC2

Synonyms
CMT2Z, DIGFAN, ZCW3, ZCWCC1
External resources
Summary
This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
1,725
Likely benign
5,899
Benign
301

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on MORC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
70%
Abnormality of the musculoskeletal system
60%
Growth abnormality
30%
Abnormality of head or neck
20%
Abnormality of the digestive system
20%
Abnormality of the integument
20%
Abnormality of blood and blood-forming tissues
10%
Abnormality of limbs
10%
Abnormality of prenatal development or birth
10%
Abnormality of the cardiovascular system
10%
Abnormality of the immune system
10%
Abnormality of the respiratory system
10%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes