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

Gene ID: 22880, updated on 27-Nov-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
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Genomic context

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See MORC2 in Genome Data Viewer
Location:
22q12.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30925130..30968774, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31388696..31432332, complement)
RS_2024_09 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. MORC2 promotes cell growth and metastasis in human cholangiocarcinoma and is negatively regulated by miR-186-5p. Liao G, et al. Aging (Albany NY), 2019 Jun 9. PMID 31180332, Free PMC Article
  2. A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z. Vujovic D, et al. J Peripher Nerv Syst, 2021 Jun. PMID 33844363, Free PMC Article
  3. Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients. Duan X, et al. Orphanet J Rare Dis, 2021 May 31. PMID 34059105, Free PMC Article
  4. Identification and expression analysis of a novel CW-type zinc finger protein MORC2 in cancer cells. Wang GL, et al. Anat Rec (Hoboken), 2010 Jun. PMID 20225202
  5. Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. Sivera R, et al. Eur J Neurol, 2021 Sep. PMID 34189813

See all (104) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MORC2 regulates RBM39-mediated CDK5RAP2 alternative splicing to promote EMT and metastasis in colon cancer.
    Title: MORC2 regulates RBM39-mediated CDK5RAP2 alternative splicing to promote EMT and metastasis in colon cancer.
  2. Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase.
    Title: Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase.
  3. Novel Insights into the Role of Chromatin Remodeler MORC2 in Cancer.
    Title: Novel Insights into the Role of Chromatin Remodeler MORC2 in Cancer.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (37)

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

Associated conditions

Description Tests
Charcot-Marie-Tooth disease
MedGen: C0007959 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview
not available
Charcot-Marie-Tooth disease axonal type 2Z
MedGen: C5569025 OMIM: 616688 GeneReviews: Not available
not available
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
MedGen: C5436781 OMIM: 619090 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 ATP-dependent H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent H3-H4 histone complex chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
  
enables cohesin loader activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
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 looping IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in constitutive heterochromatin formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in transposable element silencing by 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
  
located_in 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
  
located_in nucleoplasm TAS
Traceable Author Statement
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_2024_08

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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