Gene Gene information from NCBI Gene database.
Entrez ID 11043
Gene name Midline 2
Gene symbol MID2
Synonyms (NCBI Gene)
FXY2MRX101RNF60TRIM1XLID101
Chromosome X
Chromosome location Xq22.3
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 i
miRNA miRNA information provided by mirtarbase database.
274
miRTarBase ID miRNA Experiments Reference
MIRT021934 hsa-miR-128-3p Microarray 17612493
MIRT043130 hsa-miR-324-5p CLASH 23622248
MIRT1148576 hsa-miR-147 CLIP-seq
MIRT1148577 hsa-miR-155 CLIP-seq
MIRT1148578 hsa-miR-300 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IDA 23077300
GO:0005515 Function Protein binding IPI 25416956, 25910212, 26871637, 28514442, 30886144, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005874 Component Microtubule IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300204 7096 ENSG00000080561
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJV3
Protein name Probable E3 ubiquitin-protein ligase MID2 (EC 2.3.2.27) (Midin-2) (Midline defect 2) (Midline-2) (RING finger protein 60) (RING-type E3 ubiquitin transferase MID2) (Tripartite motif-containing protein 1)
Protein function E3 ubiquitin ligase that plays a role in microtubule stabilization. Mediates the 'Lys-48'-linked polyubiquitination of LRRK2 to drive its localization to microtubules and its proteasomal degradation in neurons. This ubiquitination inhibits LRRK2
PDB 2DJA , 2DMK , 7QRZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13445 zf-RING_UBOX 30 77 RING-type zinc-finger Domain
PF00643 zf-B_box 191 232 B-box zinc finger Domain
PF18568 COS 343 394 TRIM C-terminal subgroup One Signature domain Domain
PF00622 SPRY 590 705 SPRY domain Family
Tissue specificity TISSUE SPECIFICITY: Low level in fetal kidney and lung, and in adult prostate, ovary and small intestine.
Sequence
MGESPASVVLNASGGLFSLKMETLESELTCPICLELFEDPLLLPCAHSLCFSCAHRILVS
SCSSGESIEPITAFQCP
TCRYVISLNHRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSES
RRERTYRPTTAMSSERIACQFCEQDPPRDAVKTCITCEVSYCDRCLRATHPNKKPFTSHR
LVEPVPDTHLRGITCLDHENEKVNMYCVSDDQLICALCKLVGRHRDHQVASLNDRFEKLK
QTLEMNLTNLVKRNSELENQMAKLIQICQQVEVNTAMHEAKLMEECDELVEIIQQRKQMI
AVKIKETKVMKLRKLAQQVANCRQCLERSTVLINQAEHILKENDQARFLQSAKNIAERVA
MATASSQVLIPDINFNDAFENFALDFSREKKLLE
GLDYLTAPNPPSIREELCTASHDTIT
VHWISDDEFSISSYELQYTIFTGQANFISKSWCSWGLWPEIRKCKEAVSCSRLAGAPRGL
YNSVDSWMIVPNIKQNHYTVHGLQSGTRYIFIVKAINQAGSRNSEPTRLKTNSQPFKLDP
KMTHKKLKISNDGLQMEKDESSLKKSHTPERFSGTGCYGAAGNIFIDSGCHYWEVVMGSS
TWYAIGIAYKSAPKNEWIGKNASSWVFSRCNSNFVVRHNNKEMLVDVPPHLKRLGVLLDY
DNNMLSFYDPANSLHLHTFDVTFILPVCPTFTIWNKSLMILSGLP
APDFIDYPERQECNC
RPQESPYVSGMKTCH
Sequence length 735
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability, X-linked 101 Likely pathogenic; Pathogenic rs1933190705, rs200917006, rs587777605 RCV001352687
RCV001843845
RCV000133396
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Esophageal atresia Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 101 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 29794786 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 39245738 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 11806752 Associate
★☆☆☆☆
Found in Text Mining only
Facial paralysis Facial paralysis HPO_DG
★☆☆☆☆
Found in Text Mining only
FG syndrome FG Syndrome BEFREE 16283679
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 24115387
★☆☆☆☆
Found in Text Mining only