MORC2 Chromosome 22
MORC family CW-type zinc finger 2
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What This Gene Does
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. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Zinc fingers CW-type
Locus Type
gene with protein product
Location
22q12.2
Ensembl
ENSG00000133422
Associated Conditions (14)
Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
Developmental delay
impaired growth
dysmorphic facies
and axonal neuropathy
Tip-toe gait
Charcot-Marie-Tooth disease
MORC2-related neurodevelopmental disorders
Neurodevelopmental disorder
MORC2-related disorder
Global developmental delay
MORC2-related developmental disorder
Distal spinal muscular atrophy
Key Variants
RS1401272017
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS142307145
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS1424834448
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS144248516
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS147800268
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS150496681
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS150980372
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS1602499631
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS199973357
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS201772330
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
Health Risk
RS2040680054
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental delay, impaired growth
Health Risk
RS2040817364
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay, impaired growth
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1401272017 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS142307145 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1424834448 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS144248516 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS147800268 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS150496681 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS150980372 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1602499631 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS199973357 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS201772330 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS2040680054 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental delay, impaired growth |
| RS2040817364 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay, impaired growth |
| RS2147256585 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay, impaired growth |
| RS371713427 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS372199572 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS372297066 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS373542143 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS373963382 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS560948457 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS748092969 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS763643471 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS765371898 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS768748502 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS771884588 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay, impaired growth, dysmorphic facies |
| RS774444542 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS781162787 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Tip-toe gait, Inborn genetic diseases |
| RS781481050 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1064796495 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1342054043 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay, impaired growth |
| RS1602485677 | Health Risk | Likely pathogenic | — |
| RS1602485728 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease |
| RS1602485958 | Health Risk | Likely pathogenic | — |
| RS1602499659 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1602510214 | Health Risk | Likely pathogenic | Developmental delay, impaired growth, dysmorphic facies |
| RS2040679845 | Health Risk | Likely pathogenic | Developmental delay, impaired growth, dysmorphic facies |
| RS2517589889 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS2517601712 | Health Risk | Likely pathogenic | Developmental delay, impaired growth, dysmorphic facies |
| RS2517621673 | Health Risk | Likely pathogenic | Developmental delay, impaired growth, dysmorphic facies |
| RS773676225 | Health Risk | Likely pathogenic | Developmental delay, impaired growth, dysmorphic facies |
| RS1555938741 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1602510200 | Health Risk | Pathogenic | Developmental delay, impaired growth, dysmorphic facies |
| RS2147284796 | Health Risk | Pathogenic | Developmental delay, impaired growth, dysmorphic facies |
| RS2517588823 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS864309504 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease, Global developmental delay |
| RS886037934 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1064795559 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, MORC2-related developmental disorder, Neurodevelopmental disorder |
| RS1555938796 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z, MORC2-related disorder |
| RS1602496057 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay, impaired growth |
| RS2147256596 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay, impaired growth |
| RS864309503 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases, Charcot-Marie-Tooth disease |