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    MID2 midline 2 [ Homo sapiens (human) ]

    Gene ID: 11043, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MID2provided by HGNC
    Official Full Name
    midline 2provided by HGNC
    Primary source
    HGNC:HGNC:7096
    See related
    Ensembl:ENSG00000080561 MIM:300204; AllianceGenome:HGNC:7096
    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
    FXY2; RNF60; TRIM1; MRX101; XLID101
    Summary
    The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.8), fat (RPKM 3.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MID2 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107825735..107931637)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (106262471..106368728)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (107068965..107174867)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106968611-106969112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106975096-106975705 Neighboring gene TSC22 domain family member 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:106980023-106980600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106992672-106993524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106993525-106994376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107017786-107018363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107018364-107018940 Neighboring gene Sharpr-MPRA regulatory region 6089 Neighboring gene nuclear cap binding protein subunit 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20934 Neighboring gene Sharpr-MPRA regulatory region 15158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107120928-107121436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107121437-107121945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29837 Neighboring gene uncharacterized LOC101928335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107162128-107162628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107162629-107163129 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:107178227-107179426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:107179498-107180201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107192029-107192530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107192531-107193030 Neighboring gene TMEM230 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:107203211-107203710 Neighboring gene NACHT, LRR and PYD domains-containing protein 10-like Neighboring gene NLR family pyrin domain containing 3 pseudogene 1 Neighboring gene testis expressed 13B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. Geetha TS, et al. Hum Mutat, 2014 Jan. PMID 24115387
    2. Midline2 is overexpressed and a prognostic indicator in human breast cancer and promotes breast cancer cell proliferation in vitro and in vivo. Wang L, et al. Front Med, 2016 Mar. PMID 26791755
    3. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies. Kharrat M, et al. J Hum Genet, 2024 Jul. PMID 38467738
    4. CircTRIM1 encodes TRIM1-269aa to promote chemoresistance and metastasis of TNBC via enhancing CaM-dependent MARCKS translocation and PI3K/AKT/mTOR activation. Li Y, et al. Mol Cancer, 2024 May 16. PMID 38755678, Free PMC Article
    5. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Jehee FS, et al. Am J Med Genet A, 2005 Dec 15. PMID 16283679

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircTRIM1 encodes TRIM1-269aa to promote chemoresistance and metastasis of TNBC via enhancing CaM-dependent MARCKS translocation and PI3K/AKT/mTOR activation.
      Title: CircTRIM1 encodes TRIM1-269aa to promote chemoresistance and metastasis of TNBC via enhancing CaM-dependent MARCKS translocation and PI3K/AKT/mTOR activation.
    2. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
      Title: Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
    3. The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
      Title: The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
    4. overexpressed in advanced breast cancer and high overexpression is prognostic factor for poor overall survival
      Title: Midline2 is overexpressed and a prognostic indicator in human breast cancer and promotes breast cancer cell proliferation in vitro and in vivo.
    5. Mid2 regulates cell division through the ubiquitination of astrin on K409, which is critical for its degradation and proper cytokinesis.
      Title: The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division.
    6. A novel missense mutation (c.1040G>A, p.Arg347Gln) was reported in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred.
      Title: Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
    7. MID2 is a candidate gene for FG syndrome.
      Title: An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.
    8. MID2 coiled-coil motifs mediate both homo- and heterodimerization, a prerequisite for association of the MID-alpha 4 complex with microtubules.
      Title: MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.
    Submit: New GeneRIF Correction

    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
    Intellectual disability, X-linked 101
    MedGen: C3890168 OMIM: 300928 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-07-25)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-07-25)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37715, FLJ41813

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphoprotein binding IPI
    Inferred from Physical Interaction
    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 transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of viral entry into host cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of viral transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to microtubule IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in suppression of viral release by host IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    colocalizes_with microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    probable E3 ubiquitin-protein ligase MID2
    Names
    RING finger protein 60
    RING-type E3 ubiquitin transferase MID2
    midin 2
    midline defect 2
    tripartite motif protein 1
    tripartite motif-containing protein 1
    NP_001369680.1
    NP_001369681.1
    NP_036348.2
    NP_438112.2

    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_011907.2 RefSeqGene

      Range
      5013..110784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001382751.1 → NP_001369680.1  probable E3 ubiquitin-protein ligase MID2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL034399, AL109946
      Conserved Domains (8) summary
      smart00502
      Location:219 → 344
      BBC; B-Box C-terminal domain
      cd00063
      Location:381 → 511
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd13739
      Location:516 → 685
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd00162
      Location:10 → 59
      RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
      cd19823
      Location:173 → 212
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:115 → 167
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:323 → 374
      COS; TRIM C-terminal subgroup One Signature domain
      cl17238
      Location:10 → 62
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    2. NM_001382752.1 → NP_001369681.1  probable E3 ubiquitin-protein ligase MID2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL034399, AL109946
      UniProtKB/TrEMBL
      Q6GX22
      Conserved Domains (7) summary
      smart00502
      Location:219 → 344
      BBC; B-Box C-terminal domain
      cd00063
      Location:381 → 481
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd13739
      Location:486 → 655
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd16754
      Location:10 → 62
      RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins
      cd19823
      Location:173 → 212
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:115 → 167
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:323 → 374
      COS; TRIM C-terminal subgroup One Signature domain

    3. NM_012216.4 → NP_036348.2  probable E3 ubiquitin-protein ligase MID2 isoform 1

      See identical proteins and their annotated locations for NP_036348.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL034399, DN997921, Y18880
      Consensus CDS
      CCDS14532.2
      UniProtKB/Swiss-Prot
      A6NEL8, A6PVI5, Q5JYF5, Q8WWK1, Q9UJR9, Q9UJV3
      Related
      ENSP00000262843.6, ENST00000262843.11
      Conserved Domains (7) summary
      smart00502
      Location:239 → 364
      BBC; B-Box C-terminal domain
      cd00063
      Location:401 → 531
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd13739
      Location:536 → 705
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd16754
      Location:30 → 82
      RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins
      cd19823
      Location:193 → 232
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:135 → 187
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:343 → 394
      COS; TRIM C-terminal subgroup One Signature domain

    4. NM_052817.3 → NP_438112.2  probable E3 ubiquitin-protein ligase MID2 isoform 2

      See identical proteins and their annotated locations for NP_438112.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AF196481, AL034399, DN997921
      Consensus CDS
      CCDS14533.2
      UniProtKB/Swiss-Prot
      Q9UJV3
      Related
      ENSP00000413976.2, ENST00000443968.2
      Conserved Domains (7) summary
      smart00502
      Location:239 → 364
      BBC; B-Box C-terminal domain
      cd00063
      Location:401 → 501
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd13739
      Location:506 → 675
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd16754
      Location:30 → 82
      RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins
      cd19823
      Location:193 → 232
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:135 → 187
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:343 → 394
      COS; TRIM C-terminal subgroup One Signature domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      107825735..107931637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      106262471..106368728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJV3.3 GenPept UniProtKB/Swiss-Prot:Q9UJV3

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