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Aliases for MID2 Gene

Aliases for MID2 Gene

  • Midline 2 2 3 5
  • RING-Type E3 Ubiquitin Transferase MID2 3 4
  • Tripartite Motif-Containing Protein 1 3 4
  • RING Finger Protein 60 3 4
  • Midline Defect 2 3 4
  • RNF60 3 4
  • TRIM1 3 4
  • FXY2 3 4
  • Probable E3 Ubiquitin-Protein Ligase MID2 3
  • Tripartite Motif Protein 1 3
  • EC 2.3.2.27 4
  • Midline-2 4
  • Midin 2 3
  • Midin-2 4
  • MRX101 3

External Ids for MID2 Gene

Previous GeneCards Identifiers for MID2 Gene

  • GC0XP102390
  • GC0XP103988
  • GC0XP105102
  • GC0XP105841
  • GC0XP106875
  • GC0XP106955
  • GC0XP107068
  • GC0XP096692

Summaries for MID2 Gene

Entrez Gene Summary for MID2 Gene

  • 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]

GeneCards Summary for MID2 Gene

MID2 (Midline 2) is a Protein Coding gene. Diseases associated with MID2 include Mental Retardation, X-Linked 101 and X-Linked Non-Specific Intellectual Disability. GO annotations related to this gene include protein homodimerization activity and ligase activity. An important paralog of this gene is MID1.

UniProtKB/Swiss-Prot for MID2 Gene

  • May play a role in microtubule stabilization.

Gene Wiki entry for MID2 Gene

Additional gene information for MID2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MID2 Gene

Genomics for MID2 Gene

Regulatory Elements for MID2 Gene

Enhancers for MID2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH107733 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.3 -85.8 -85751 10 HDGF PKNOX1 FOXA2 ARNT FEZF1 ZNF2 YY1 SP3 REST SMARCA4 TSC22D3 MID2 MORC4 RBM41 GC0XM107728 NCBP2L
GH0XH107708 1.8 FANTOM5 ENCODE dbSUPER 11.2 -110.3 -110336 10 HDGF PKNOX1 ARNT SIN3A YBX1 YY1 ZNF143 FOS JUNB REST TSC22D3 RBM41 MORC4 MID2 LOC101928335 ATG4A GC0XM107728 GC0XM107676
GH0XH107774 1.5 Ensembl ENCODE dbSUPER 13.4 -48.9 -48924 3 PKNOX1 ATF1 ZFP64 SIN3A FEZF1 GLIS2 ZNF143 DEK SP3 REST MID2 TSC22D3 NCBP2L
GH0XH107682 1.4 Ensembl ENCODE dbSUPER 4.3 -139.9 -139942 4 HDAC1 PKNOX1 NFRKB FEZF1 RAD21 ZNF766 ETV6 RUNX3 CEBPB ZNF398 MID2 GC0XM107676 GC0XM107728
GH0XH107825 1.1 FANTOM5 ENCODE 3.8 +1.8 1818 2 PKNOX1 ARNT ZSCAN4 SIN3A FEZF1 ZNF366 SP3 PRDM6 GLIS1 WT1 RBM41 NCBP2L LOC101928335 MID2 GC0XM107885
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MID2 on UCSC Golden Path with GeneCards custom track

Promoters for MID2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247873 1954 1999 CTCF LEF1 KLF1 ZBTB21 ARNT ZSCAN4 SIN3A ZNF140 FEZF1 ZFHX2

Genomic Location for MID2 Gene

Chromosome:
X
Start:
107,824,647 bp from pter
End:
107,931,637 bp from pter
Size:
106,991 bases
Orientation:
Plus strand

Genomic View for MID2 Gene

Genes around MID2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MID2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MID2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MID2 Gene

Proteins for MID2 Gene

  • Protein details for MID2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJV3-TRIM1_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase MID2
    Protein Accession:
    Q9UJV3
    Secondary Accessions:
    • A6NEL8
    • A6PVI5
    • Q5JYF5
    • Q8WWK1
    • Q9UJR9

    Protein attributes for MID2 Gene

    Size:
    735 amino acids
    Molecular mass:
    83210 Da
    Quaternary structure:
    • Homodimer or heterodimer with MID1. Interacts with IGBP1.
    SequenceCaution:
    • Sequence=AAF07341.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH17707.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB56154.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI42073.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAO72053.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MID2 Gene

    Alternative splice isoforms for MID2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MID2 Gene

Post-translational modifications for MID2 Gene

Other Protein References for MID2 Gene

No data available for DME Specific Peptides for MID2 Gene

Domains & Families for MID2 Gene

Suggested Antigen Peptide Sequences for MID2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJV3

UniProtKB/Swiss-Prot:

TRIM1_HUMAN :
  • The tripartite motif (RBCC; RING- and B box-type zinc fingers and coiled coil domains) mediates dimerization.
  • Belongs to the TRIM/RBCC family.
Domain:
  • The tripartite motif (RBCC; RING- and B box-type zinc fingers and coiled coil domains) mediates dimerization.
  • Associates with microtubules in a manner that is dependent on the C-terminal B30.2 domain.
Family:
  • Belongs to the TRIM/RBCC family.
genes like me logo Genes that share domains with MID2: view

Function for MID2 Gene

Molecular function for MID2 Gene

GENATLAS Biochemistry:
midline 2,highly homolog to MID1,expressed in fetal tissues noteworthy in developing heart,confined to the cytoplasm in association to microtubule structures
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
May play a role in microtubule stabilization.

Enzyme Numbers (IUBMB) for MID2 Gene

Gene Ontology (GO) - Molecular Function for MID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IMP 11806752
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0042803 protein homodimerization activity IDA 11806752
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MID2: view
genes like me logo Genes that share phenotypes with MID2: view

Human Phenotype Ontology for MID2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MID2 Gene

miRTarBase miRNAs that target MID2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MID2
  • Applied Biological Materials Clones for MID2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MID2 Gene

Localization for MID2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MID2 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Microtubule-associated.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MID2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 3
cytosol 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 colocalizes_with microtubule IDA,IEA 10400986
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with MID2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MID2 Gene

Pathways & Interactions for MID2 Gene

No Data Available

UniProtKB/Swiss-Prot Q9UJV3-TRIM1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010508 positive regulation of autophagy IMP 26347139
GO:0016567 protein ubiquitination IEA --
GO:0032897 negative regulation of viral transcription IDA 18248090
GO:0035372 protein localization to microtubule IMP 11806752
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IDA 23077300
genes like me logo Genes that share ontologies with MID2: view

No data available for Pathways by source and SIGNOR curated interactions for MID2 Gene

Drugs & Compounds for MID2 Gene

No Compound Related Data Available

Transcripts for MID2 Gene

Unigene Clusters for MID2 Gene

Midline 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MID2
  • Applied Biological Materials Clones for MID2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MID2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for MID2 Gene

GeneLoc Exon Structure for
MID2
ECgene alternative splicing isoforms for
MID2

Expression for MID2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MID2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MID2 Gene

This gene is overexpressed in Cerebrospinal fluid (47.9) and Platelet (17.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MID2 Gene



Protein tissue co-expression partners for MID2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MID2 Gene:

MID2

SOURCE GeneReport for Unigene cluster for MID2 Gene:

Hs.12256

mRNA Expression by UniProt/SwissProt for MID2 Gene:

Q9UJV3-TRIM1_HUMAN
Tissue specificity: Low level in fetal kidney and lung, and in adult prostate, ovary and small intestine.

Evidence on tissue expression from TISSUES for MID2 Gene

  • Nervous system(4.3)
  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MID2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
  • testicle
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MID2: view

Primer Products

No data available for mRNA differential expression in normal tissues for MID2 Gene

Orthologs for MID2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MID2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MID2 33 34
  • 99.82 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia MID2 33 34
  • 95.69 (n)
mouse
(Mus musculus)
Mammalia Mid2 33 16 34
  • 94.01 (n)
oppossum
(Monodelphis domestica)
Mammalia MID2 34
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mid2 33
  • 93.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MID2 34
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves MID2 33 34
  • 81.27 (n)
lizard
(Anolis carolinensis)
Reptilia MID2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497646 33
  • 75.54 (n)
zebrafish
(Danio rerio)
Actinopterygii mid2 34
  • 83 (a)
OneToMany
MID2 (2 of 2) 34
  • 72 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for MID2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MID2 Gene

ENSEMBL:
Gene Tree for MID2 (if available)
TreeFam:
Gene Tree for MID2 (if available)

Paralogs for MID2 Gene

(2) SIMAP similar genes for MID2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MID2: view

Variants for MID2 Gene

Sequence variations from dbSNP and Humsavar for MID2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs587777605 Pathogenic, Mental retardation, X-linked 101 (MRX101) [MIM:300928] 107,905,593(+) GGCAC(A/G)GTTTC intron-variant, reference, missense
rs375785745 Uncertain significance 107,841,113(+) GGGAT(G/T)CAGTA reference, missense
rs1000018310 -- 107,832,539(+) TAGCC(C/T)GTGAG intron-variant
rs1000027700 -- 107,866,439(+) CACAC(A/G)CACAC intron-variant
rs1000027892 -- 107,848,506(+) GGGAG(G/T)TGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MID2 Gene

Variant ID Type Subtype PubMed ID
dgv2358e212 CNV loss 25503493
dgv2359e212 CNV loss 25503493
dgv2360e212 CNV loss 25503493
esv3574287 CNV loss 25503493
nsv1126948 CNV deletion 24896259
nsv508789 CNV insertion 20534489

Variation tolerance for MID2 Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MID2 Gene

Human Gene Mutation Database (HGMD)
MID2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MID2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MID2 Gene

Disorders for MID2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MID2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 101
  • mrx101
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
opitz-gbbb syndrome
  • opitz g/bbb syndrome
anogenital venereal wart
  • anogenital human papilloma virus infectious disease
discitis
- elite association - COSMIC cancer census association via MalaCards
Search MID2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRIM1_HUMAN
  • Mental retardation, X-linked 101 (MRX101) [MIM:300928]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus. {ECO:0000269 PubMed:24115387}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MID2

Genetic Association Database (GAD)
MID2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MID2
genes like me logo Genes that share disorders with MID2: view

No data available for Genatlas for MID2 Gene

Publications for MID2 Gene

  1. MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. (PMID: 10400986) Buchner G … Franco B (Human molecular genetics 1999) 2 3 4 22 60
  2. 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. (PMID: 11806752) Short KM … Cox TC (BMC cell biology 2002) 3 4 22 60
  3. FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules. (PMID: 10644436) Perry J … Ashworth A (Genomics 1999) 3 4 22 60
  4. Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. (PMID: 24115387) Geetha TS … Thelma BK (Human mutation 2014) 3 4 60
  5. Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding. (PMID: 16434393) Short KM … Cox TC (The Journal of biological chemistry 2006) 3 22 60

Products for MID2 Gene

  • Addgene plasmids for MID2

Sources for MID2 Gene

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