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    MID2 midline 2 [ Homo sapiens (human) ]

    Gene ID: 11043, updated on 23-Nov-2023

    Summary

    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
    NEW
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    Genomic context

    See MID2 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107825735..107931637)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (106262471..106368728)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 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
     
    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

    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)

    NEW Try the new Transcript table

    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_001382751.1NP_001369680.1  probable E3 ubiquitin-protein ligase MID2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL034399, AL109946
      Conserved Domains (8) summary
      smart00502
      Location:219344
      BBC; B-Box C-terminal domain
      cd00063
      Location:381511
      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:516685
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd00162
      Location:1059
      RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
      cd19823
      Location:173212
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:115167
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:323374
      COS; TRIM C-terminal subgroup One Signature domain
      cl17238
      Location:1062
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
    2. NM_001382752.1NP_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:219344
      BBC; B-Box C-terminal domain
      cd00063
      Location:381481
      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:486655
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd16754
      Location:1062
      RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins
      cd19823
      Location:173212
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:115167
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:323374
      COS; TRIM C-terminal subgroup One Signature domain
    3. NM_012216.4NP_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:239364
      BBC; B-Box C-terminal domain
      cd00063
      Location:401531
      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:536705
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd16754
      Location:3082
      RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins
      cd19823
      Location:193232
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:135187
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:343394
      COS; TRIM C-terminal subgroup One Signature domain
    4. NM_052817.3NP_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:239364
      BBC; B-Box C-terminal domain
      cd00063
      Location:401501
      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:506675
      SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
      cd16754
      Location:3082
      RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins
      cd19823
      Location:193232
      Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins
      cd19837
      Location:135187
      Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins
      pfam18568
      Location:343394
      COS; TRIM C-terminal subgroup One Signature domain

    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_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)