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    MORC2 MORC family CW-type zinc finger 2 [ Homo sapiens (human) ]

    Gene ID: 22880, updated on 5-May-2024

    Summary

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    Official Symbol
    MORC2provided by HGNC
    Official Full Name
    MORC family CW-type zinc finger 2provided by HGNC
    Primary source
    HGNC:HGNC:23573
    See related
    Ensembl:ENSG00000133422 MIM:616661; AllianceGenome:HGNC:23573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZCW3; CMT2Z; DIGFAN; ZCWCC1
    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. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in testis (RPKM 20.8), ovary (RPKM 5.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q12.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30925130..30968774, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31388696..31432332, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31321117..31364760, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31268713-31269213 Neighboring gene uncharacterized LOC105372994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31273667-31274409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31274410-31275151 Neighboring gene origin of replication in OSBP2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:31281999-31282696 Neighboring gene uncharacterized LOC107985544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31288977-31289552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31289553-31290128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18846 Neighboring gene eukaryotic translation initiation factor 4H pseudogene 2 Neighboring gene MORC2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:31335586-31335801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13620 Neighboring gene MPRA-validated peak4481 silencer Neighboring gene taurine up-regulated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31439932-31440502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31440503-31441072 Neighboring gene RNA, 7SL, cytoplasmic 633, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Destabilization of microrchidia family CW-type zinc finger 2 via the cyclin-dependent kinase 1-chaperone-mediated autophagy pathway promotes mitotic arrest and enhances cancer cellular sensitivity to microtubule-targeting agents. Hu SY, et al. Clin Transl Med, 2023 Mar. PMID 36967563, Free PMC Article
    2. A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders. Mirchi A, et al. Neurogenetics, 2022 Oct. PMID 35920923
    3. Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy. Jacquier A, et al. Hum Mutat, 2022 Dec. PMID 35904125, Free PMC Article
    4. HSP90 N-terminal inhibitors target oncoprotein MORC2 for autophagic degradation and suppress MORC2-driven breast cancer progression. Yang F, et al. Clin Transl Med, 2022 May. PMID 35522895, Free PMC Article
    5. Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. Sivera R, et al. Eur J Neurol, 2021 Sep. PMID 34189813

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel Insights into the Role of Chromatin Remodeler MORC2 in Cancer.
      Title: Novel Insights into the Role of Chromatin Remodeler MORC2 in Cancer.
    2. Alternative polyadenylation reprogramming of MORC2 induced by NUDT21 loss promotes KIRC carcinogenesis.
      Title: Alternative polyadenylation reprogramming of MORC2 induced by NUDT21 loss promotes KIRC carcinogenesis.
    3. Destabilization of microrchidia family CW-type zinc finger 2 via the cyclin-dependent kinase 1-chaperone-mediated autophagy pathway promotes mitotic arrest and enhances cancer cellular sensitivity to microtubule-targeting agents.
      Title: Destabilization of microrchidia family CW-type zinc finger 2 via the cyclin-dependent kinase 1-chaperone-mediated autophagy pathway promotes mitotic arrest and enhances cancer cellular sensitivity to microtubule-targeting agents.
    4. MORC2 and MAX contributes to the expression of glycolytic enzymes, breast cancer cell proliferation and migration.
      Title: MORC2 and MAX contributes to the expression of glycolytic enzymes, breast cancer cell proliferation and migration.
    5. Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
      Title: Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
    6. A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
      Title: A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
    7. HSP90 N-terminal inhibitors target oncoprotein MORC2 for autophagic degradation and suppress MORC2-driven breast cancer progression.
      Title: HSP90 N-terminal inhibitors target oncoprotein MORC2 for autophagic degradation and suppress MORC2-driven breast cancer progression.
    8. Microrchidia family CWtype zinc finger 2 promotes the proliferation, invasion, migration and epithelialmesenchymal transition of glioma by regulating PTEN/PI3K/AKT signaling via binding to Nmyc downstream regulated gene 1 promoter.
      Title: Microrchidia family CW‑type zinc finger 2 promotes the proliferation, invasion, migration and epithelial‑mesenchymal transition of glioma by regulating PTEN/PI3K/AKT signaling via binding to N‑myc downstream regulated gene 1 promoter.
    9. A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.
      Title: A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.
    10. Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
      Title: Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression, epigenetic IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA methylation-dependent heterochromatin formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ATPase MORC2
    Names
    zinc finger CW-type coiled-coil domain protein 1
    NP_001290185.1
    NP_001290186.1
    NP_055756.1
    XP_011528306.1
    XP_016884156.1
    XP_047297159.1
    XP_047297160.1
    XP_054181250.1
    XP_054181251.1
    XP_054181252.1
    XP_054181253.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046752.1 RefSeqGene

      Range
      4724..48368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303256.3 → NP_001290185.1  ATPase MORC2 isoform 1

      See identical proteins and their annotated locations for NP_001290185.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC004542, BC019257, BM683680, CD653611, DR000665
      Consensus CDS
      CCDS77668.1
      UniProtKB/Swiss-Prot
      B2RNB1, Q9UF28, Q9Y6V2, Q9Y6X9
      Related
      ENSP00000380763.2, ENST00000397641.8
      Conserved Domains (2) summary
      pfam07496
      Location:495 → 542
      zf-CW; CW-type Zinc Finger
      pfam13589
      Location:29 → 169
      HATPase_c_3; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase

    2. NM_001303257.2 → NP_001290186.1  ATPase MORC2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame splice junction in the 3' coding region, compared to variant 1. This difference results in a shorter isoform (2) compared to variant 1.
      Source sequence(s)
      AC004542, BC019257, BM683680, BU733868, CD653611, DR000665
      UniProtKB/Swiss-Prot
      Q9Y6X9
      Conserved Domains (2) summary
      pfam07496
      Location:495 → 542
      zf-CW; CW-type Zinc Finger
      pfam13589
      Location:29 → 169
      HATPase_c_3; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase

    3. NM_014941.3 → NP_055756.1  ATPase MORC2 isoform 3

      See identical proteins and their annotated locations for NP_055756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional exon which results in the use of an in-frame downstream start codon, compared to variant 1. This difference results in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB020659, AC004542, BC019257, BM683680, CD653611
      Consensus CDS
      CCDS33636.1
      UniProtKB/Swiss-Prot
      Q9Y6X9
      Related
      ENSP00000215862.4, ENST00000215862.8
      Conserved Domains (4) summary
      pfam07496
      Location:433 → 480
      zf-CW; CW-type Zinc Finger
      cl00075
      Location:1 → 107
      HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
      cl26464
      Location:558 → 673
      Atrophin-1; Atrophin-1 family
      cl26511
      Location:223 → 302
      Neuromodulin_N; Gap junction protein N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30925130..30968774 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028667.3 → XP_016884156.1  ATPase MORC2 isoform X2

      Conserved Domains (4) summary
      PHA03247
      Location:625 → 740
      PHA03247; large tegument protein UL36; Provisional
      cd16931
      Location:18 → 140
      HATPase_MORC-like; Histidine kinase-like ATPase domain of human microrchidia (MORC) family CW-type zinc finger proteins MORC1-4, and related domains
      pfam07496
      Location:500 → 547
      zf-CW; CW-type Zinc Finger
      pfam17942
      Location:244 → 456
      Morc6_S5; Morc6 ribosomal protein S5 domain 2-like

    2. XM_011530004.3 → XP_011528306.1  ATPase MORC2 isoform X1

      Conserved Domains (4) summary
      PHA03247
      Location:625 → 740
      PHA03247; large tegument protein UL36; Provisional
      cd16931
      Location:18 → 140
      HATPase_MORC-like; Histidine kinase-like ATPase domain of human microrchidia (MORC) family CW-type zinc finger proteins MORC1-4, and related domains
      pfam07496
      Location:500 → 547
      zf-CW; CW-type Zinc Finger
      pfam17942
      Location:244 → 456
      Morc6_S5; Morc6 ribosomal protein S5 domain 2-like

    3. XM_047441203.1 → XP_047297159.1  ATPase MORC2 isoform X3

    4. XM_047441204.1 → XP_047297160.1  ATPase MORC2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31388696..31432332 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325276.1 → XP_054181251.1  ATPase MORC2 isoform X2

    2. XM_054325275.1 → XP_054181250.1  ATPase MORC2 isoform X1

    3. XM_054325277.1 → XP_054181252.1  ATPase MORC2 isoform X3

    4. XM_054325278.1 → XP_054181253.1  ATPase MORC2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6X9.2 GenPept UniProtKB/Swiss-Prot:Q9Y6X9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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