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MID2 midline 2 [ Homo sapiens (human) ]

Gene ID: 11043, updated on 22-Aug-2021

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; 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
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Genomic context

See MID2 in Genome Data Viewer
Location:
Xq22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (107825735..107931637)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (107068965..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 TMEM230 pseudogene 1 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
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
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 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)

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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_001382751.1NP_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
    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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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