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MID2 midline 2 [ Homo sapiens (human) ]

Gene ID: 11043, updated on 27-Dec-2018

Summary

Official Symbol
MID2provided by HGNC
Official Full Name
midline 2provided by HGNC
Primary source
HGNC:HGNC:7096
See related
Ensembl:ENSG00000080561 MIM:300204
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
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

Genomic context

See MID2 in Genome Data Viewer
Location:
Xq22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (107820453..107931637)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (107068889..107174867)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TSC22 domain family member 3 Neighboring gene nuclear cap binding protein subunit 2 like Neighboring gene uncharacterized LOC101928335 Neighboring gene uncharacterized LOC105373310 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, 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

Homology

Clone Names

  • FLJ37715, FLJ41813

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with 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_036348.2
NP_438112.2
XP_005262119.1
XP_016884728.1

NCBI Reference Sequences (RefSeq)

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
    5001..110784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012216.3NP_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
    Q9UJV3
    Related
    ENSP00000262843.6, ENST00000262843.10
    Conserved Domains (5) summary
    smart00502
    Location:239364
    BBC; B-Box C-terminal domain
    smart00336
    Location:195232
    BBOX; B-Box-type zinc finger
    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
  2. NM_052817.2NP_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 (5) summary
    smart00502
    Location:239364
    BBC; B-Box C-terminal domain
    smart00336
    Location:195232
    BBOX; B-Box-type zinc finger
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    107820453..107931637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262062.5XP_005262119.1  probable E3 ubiquitin-protein ligase MID2 isoform X1

    See identical proteins and their annotated locations for XP_005262119.1

    UniProtKB/Swiss-Prot
    Q9UJV3
    Conserved Domains (5) summary
    smart00502
    Location:219344
    BBC; B-Box C-terminal domain
    smart00336
    Location:175212
    BBOX; B-Box-type zinc finger
    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 ...
    cd00162
    Location:963
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    cd13739
    Location:516685
    SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
  2. XM_017029239.2XP_016884728.1  probable E3 ubiquitin-protein ligase MID2 isoform X2

    UniProtKB/Swiss-Prot
    Q9UJV3
    UniProtKB/TrEMBL
    Q6GX22
    Conserved Domains (5) summary
    smart00502
    Location:219344
    BBC; B-Box C-terminal domain
    smart00336
    Location:175212
    BBOX; B-Box-type zinc finger
    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 ...
    cd00162
    Location:963
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    cd13739
    Location:486655
    SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2
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