MID2 midline 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: Xq22.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (107825735..107931637)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (106262471..106368728)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (107068965..107174867)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircTRIM1 encodes TRIM1-269aa to promote chemoresistance and metastasis of TNBC via enhancing CaM-dependent MARCKS translocation and PI3K/AKT/mTOR activation.
Title: CircTRIM1 encodes TRIM1-269aa to promote chemoresistance and metastasis of TNBC via enhancing CaM-dependent MARCKS translocation and PI3K/AKT/mTOR activation.
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
Title: Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
Title: The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
overexpressed in advanced breast cancer and high overexpression is prognostic factor for poor overall survival
Title: Midline2 is overexpressed and a prognostic indicator in human breast cancer and promotes breast cancer cell proliferation in vitro and in vivo.
Mid2 regulates cell division through the ubiquitination of astrin on K409, which is critical for its degradation and proper cytokinesis.
Title: The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division.
A novel missense mutation (c.1040G>A, p.Arg347Gln) was reported in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred.
Title: Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
MID2 is a candidate gene for FG syndrome.
Title: An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.
MID2 coiled-coil motifs mediate both homo- and heterodimerization, a prerequisite for association of the MID-alpha 4 complex with microtubules.
Title: 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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7891 (e-PCR)
- UniSTS:99335

WI-14337 (e-PCR)
- UniSTS:17674

Mid2 (e-PCR), detects polymorphism
- UniSTS:546866

L42705 (e-PCR)
- UniSTS:20839

RH18475 (e-PCR)
- UniSTS:17261

BKT11 (e-PCR)
- UniSTS:256899

RH36054 (e-PCR)
- UniSTS:67235

DXS7844 (e-PCR)
- UniSTS:99280

SGC32037 (e-PCR)
- UniSTS:63717

DXS6739 (e-PCR)
- UniSTS:25840

MID2 (e-PCR)
- UniSTS:506622

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein 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 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

Process	Evidence Code	Pubs
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral entry into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to microtubule	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in suppression of viral release by host	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	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

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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

EC 2.3.2.27

NP_001369681.1

EC 2.3.2.27

NP_036348.2

EC 2.3.2.27

NP_438112.2

EC 2.3.2.27

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

NG_011907.2 RefSeqGene

Range

5013..110784

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001382751.1 → NP_001369680.1 probable E3 ubiquitin-protein ligase MID2 isoform 3

Status: REVIEWED

Source sequence(s)

AL034399, AL109946

Conserved Domains (8) summary

smart00502
Location:219 → 344

BBC; B-Box C-terminal domain

cd00063
Location:381 → 511

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:516 → 685

SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2

cd00162
Location:10 → 59

RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]

cd19823
Location:173 → 212

Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins

cd19837
Location:115 → 167

Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins

pfam18568
Location:323 → 374

COS; TRIM C-terminal subgroup One Signature domain

cl17238
Location:10 → 62

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
NM_001382752.1 → NP_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:219 → 344

BBC; B-Box C-terminal domain

cd00063
Location:381 → 481

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:486 → 655

SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2

cd16754
Location:10 → 62

RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins

cd19823
Location:173 → 212

Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins

cd19837
Location:115 → 167

Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins

pfam18568
Location:323 → 374

COS; TRIM C-terminal subgroup One Signature domain
NM_012216.4 → NP_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:239 → 364

BBC; B-Box C-terminal domain

cd00063
Location:401 → 531

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:536 → 705

SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2

cd16754
Location:30 → 82

RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins

cd19823
Location:193 → 232

Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins

cd19837
Location:135 → 187

Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins

pfam18568
Location:343 → 394

COS; TRIM C-terminal subgroup One Signature domain
NM_052817.3 → NP_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:239 → 364

BBC; B-Box C-terminal domain

cd00063
Location:401 → 501

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:506 → 675

SPRY_PRY_TRIM1; PRY/SPRY domain of tripartite motif-binding protein 1 (TRIM1) or MID2

cd16754
Location:30 → 82

RING-HC_MID2; RING finger, HC subclass, found in midline-2 (MID2) and similar proteins

cd19823
Location:193 → 232

Bbox2_MID2_C-I; B-box-type 2 zinc finger found in midline-2 (MID2) and similar proteins

cd19837
Location:135 → 187

Bbox1_MID2_C-I; B-box-type 1 zinc finger found in midline-2 (MID2) and similar proteins

pfam18568
Location:343 → 394

COS; TRIM C-terminal subgroup One Signature domain