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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TRIM32 Gene

protein-coding GIFtS: 66
GCID: GC09P119449

tripartite motif containing 32

(Previous names: limb girdle muscular dystrophy 2H (autosomal recessive),...)
(Previous symbol: LGMD2H)

Explore 15 diseases affiliated with
TRIM32 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tripartite Motif Containing 32¹ ²		Zinc Finger Protein HT2A² ³
HT2A¹ ² ³ ⁵		72 KDa Tat-Interacting Protein² ³
BBS11¹ ² ⁵		Limb Girdle Muscular Dystrophy 2H (Autosomal Recessive)¹
LGMD2H¹ ² ⁵		E3 Ubiquitin-Protein Ligase TRIM32²
TATIP¹ ²		TAT-Interactive Protein, 72-KD²
Tripartite Motif-Containing 32¹ ²		Zinc-Finger Protein HT2A²
Tripartite Motif-Containing Protein 32² ³		EC 6.3.2.-³

External Ids:	HGNC: 16380¹	Entrez Gene: 22954²	Ensembl: ENSG00000119401⁷	OMIM: 602290⁵	UniProtKB: Q13049³

Export aliases for TRIM32 gene to outside databases

Previous GC identifers: GC09P110277 GC09P111098 GC09P112903 GC09P114825 GC09P116529 GC09P118489 GC09P089054

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TRIM32:

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

cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain

of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049

Function: Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May play

a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the

activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo

Gene Wiki entry for TRIM32

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TRIM32 gene promoter:
USF1 HOXA3 GATA-3 USF-1 HSF2 GATA-1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TRIM32 promoter sequence

Search SABiosciences Chromatin IP Primers for TRIM32

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRIM32

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33.1 Ensembl cytogenetic band: 9q33.1 HGNC cytogenetic band: 9q33.1

TRIM32 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRIM32 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P119449: view genomic region (about GC identifiers)

Start:	119,449,581 bp from pter	End:	119,463,579 bp from pter
Size:	13,999 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049 (See protein sequence)

Recommended Name: E3 ubiquitin-protein ligase TRIM32

Size: 653 amino acids; 71989 Da

Subunit: Interacts with DTNBP1. It self-associates

Subcellular location: Cytoplasm. Note=Localized in cytoplasmic bodies, often located around the nucleus

1 PDB 3D structure from and Proteopedia for TRIM32:

2CT2 (3D)

Secondary accessions: Q9NQP8

Explore the universe of human proteins at neXtProt for TRIM32: NX_Q13049

Post-translational modifications:

Ubiquitinated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13049

TRIM32 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001093149.1 NP_036342.2

ENSEMBL proteins:

ENSP00000363095 ENSP00000412603 ENSP00000408292

Reactome Protein details: Q13049
Human Recombinant Protein Products:

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	Novus Biologicals TRIM32 Proteins Novus Biologicals TRIM32 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TRIM32

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005737	cytoplasm	IDA	19349376
GO:0005863	colocalizes with striated muscle myosin thick filament	ISS	--

TRIM32 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TRIM32

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TRIM32 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR017907 Znf_RING_CS

IPR001841 Znf_RING

IPR011042 6-blade_b-propeller_TolB-like

IPR000315 Znf_B-box

IPR013017 NHL_repeat_subgr

Graphical View of Domain Structure for InterPro Entry Q13049

ProtoNet protein and cluster: Q13049

2 Blocks protein families:

IPB000315 B-box zinc finger signature

IPB001841 Zn-finger

UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049

Similarity: Belongs to the TRIM/RBCC family

Similarity: Contains 1 B box-type zinc finger

Similarity: Contains 5 NHL repeats

Similarity: Contains 1 RING-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049

Function: Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May play

a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the

activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo

Enzyme Number (IUBMB): EC 6.3.2.-¹

miRNA Products:		miRTarBase miRNAs that target TRIM32: hsa-mir-155 (MIRT001492)

		OriGene 3'-UTR Clone (see all 2): TRIM32 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRIM32
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TRIM32 (see all 10):
		hsa-miR-320a hsa-miR-3688-3p hsa-miR-320d hsa-miR-944 hsa-miR-551b* hsa-miR-1291 hsa-miR-320b hsa-miR-155

		SwitchGear 3'UTR luciferase reporter plasmid: TRIM32 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRIM32 (see all 7) OriGene shRNA RFP: TRIM32 OriGene siRNA: TRIM32
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TRIM32

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TRIM32

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TRIM32 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TRIM32 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TRIM32 (NM_012210)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRIM32
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRIM32

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TRIM32
		Search LifeMap BioReagents cell lines for TRIM32

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRIM32

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003713	transcription coactivator activity	TAS	7778269
GO:0003723	RNA binding	ISS	--
GO:0004842	ubiquitin-protein ligase activity	IDA	16816390
GO:0005515	protein binding	IPI	18632609
GO:0008270	zinc ion binding	IEA	--

TRIM32 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TRIM32:

Increased cell death HMECs cel

Animal Models:
6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Trim32):

behavior/neurological	growth/size	homeostasis/metabolism	muscle	nervous system
reproductive system

TRIM32 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Antigen processing: Ubiquitination & Proteasome degradation

	Antigen processing: Ubiquitination & Proteasome degradation	1.00			Polyubiquitination of substrate	0.75
	Class I MHC mediated antigen processing & presentation	0.83			Ubiquitin mediated proteolysis	0.36

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Reactome Pathways for TRIM32

	Antigen processing: Ubiquitination & Proteasome degradation
	Polyubiquitination of substrate
	Adaptive Immune System
	Class I MHC mediated antigen processing & presentation
	Immune System

1 Kegg Pathway (Kegg details for TRIM32):

Ubiquitin mediated proteolysis

UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049

Pathway: Protein modification; protein ubiquitination

TRIM32 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TRIM32

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/78 Interacting proteins for TRIM32 (Q13049^{1, 2, 3} ENSP00000363095⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 78)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATXN1	P54253¹^,²^,³, ENSP00000244769⁴	EBI-742790,EBI-930964 MINT-2870068 MINT-2855353 I2D: score=3 STRING: ENSP00000244769
SFN	P31947²^,³, ENSP00000340989⁴	MINT-3975886 I2D: score=2 STRING: ENSP00000340989
UBQLN4	Q9NRR5¹^,²^,³, ENSP00000357292⁴	EBI-742790,EBI-722657 MINT-2870049 I2D: score=3 STRING: ENSP00000357292
PDE9A	O76083¹^,³, ENSP00000291539⁴	EBI-742790,EBI-742764 I2D: score=4 STRING: ENSP00000291539
UBQLN1	Q9UMX0³, ENSP00000365576⁴	I2D: score=4 STRING: ENSP00000365576

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000209	protein polyubiquitination	IDA	18632609
GO:0009411	response to UV	ISS	--
GO:0016567	protein ubiquitination	IDA	16816390
GO:0030307	positive regulation of cell growth	IDA	18632609
GO:0030335	positive regulation of cell migration	IDA	18632609

TRIM32 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TRIM32

4 HMDB Compounds for TRIM32 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

Search CenterWatch for drugs/clinical trials and news about TRIM32 / TRI32

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TRIM32 gene (2 alternative transcripts):

NM_001099679.1 NM_012210.3

Unigene Cluster for TRIM32:

Tripartite motif containing 32

Hs.591910 [show with all ESTs]

Unigene Representative Sequence: NM_012210

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373983 ENST00000411410 ENST00000450136(uc004bjw.2 uc004bjx.2)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TRIM32 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRIM32
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TRIM32 (see all 10):
		hsa-miR-320a hsa-miR-3688-3p hsa-miR-320d hsa-miR-944 hsa-miR-551b* hsa-miR-1291 hsa-miR-320b hsa-miR-155

		SwitchGear 3'UTR luciferase reporter plasmid: TRIM32 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRIM32 (see all 7) OriGene shRNA RFP: TRIM32 OriGene siRNA: TRIM32
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TRIM32 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TRIM32 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TRIM32 (NM_012210)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRIM32
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRIM32

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TRIM32 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TRIM32
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TRIM32
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TRIM32

Additional cDNA sequence:

AK314264.1 BC003154.1 U18543.1

10 DOTS entries:

DT.113837 DT.100748579 DT.208964 DT.95305801 DT.121144140 DT.121143913 DT.91712540 DT.100748576

DT.91762298 DT.121144254

24/125 AceView cDNA sequences (see all 125):

BM454451 BU176529 BQ002866 BX402162 BE296619 AW026649 CA439275 AL562643

AI298417 AA985161 AW513159 BG779089 AW292313 BU192950 CR605953 AW613669

AL520290 AI373808 BQ220782 BC003154 BG054958 CA392170 AI273285 AW375862

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TRIM32 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGAAATTT

About this image

TRIM32 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

GABAergic Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See TRIM32 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TRIM32

SOURCE GeneReport for Unigene cluster: Hs.591910

UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049

Tissue specificity: Spleen, thymus, prostate, testis, ovary, intestine, colon and skeletal muscle

SABiosciences Expression via Pathway-Focused PCR Array including TRIM32:

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TRIM32 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TRIM32

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRIM32

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TRIM32 gene from 4/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Trim32^{1 , 5}	tripartite motif-containing 32^{1, 5}	87.99(n)¹ 96.32(a)¹		4 (34.43 cM)⁵ 69807¹ NM_001161782.1¹ NP_001155254.1¹ 65604986⁵
chicken (Gallus gallus)	Aves	TRIM32⁶	Uncharacterized protein	83(a)	1 ↔ 1	17(3773373-3775322)
lizard (Anolis carolinensis)	Reptilia	TRIM32⁶	--	84(a)	1 ↔ 1	GL343541.1(325273-327234)
zebrafish (Danio rerio)	Actinopterygii	trim32¹	tripartite motif-containing 32	64.1(n) 64.71(a)		562764 NM_001113594.1 NP_001107066.1

ENSEMBL Gene Tree for TRIM32 (if available)
TreeFam Gene Tree for TRIM32 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TRIM32 gene

TRIM3² TRIM71² NHLRC1² TRIM45² TRIM56² TRIM2²

1 SIMAP similar gene for TRIM32 using alignment to 2 protein entries: TRI32_HUMAN (see all proteins):

TRIM68

TRIM32 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111033570^1,2	C	pathogenic	89692650(+)	`TAACCA/GATGTG`	4	N D	mis¹		0	--	--	--	--
rs3747835^1,2	C,F,H,	untested	89692887(+)	`AAATCC/TGCCGC`	4	R C	mis¹ ese³		9		EA NS NA EU	7169
rs113850994^1,2		--	89053454(+)	`AGTATT/GTTTAA`	2	--	us2k¹		2		CSA WA	120
rs57483164^1,2	C	--	89053602(+)	`AAAAAT/ATTTAA`	2	--	us2k¹		1		NA	2
rs41308922^1,2	C,F,	--	89054503(+)	`CCTAGG/AGAGTC`	2	--	us2k¹		4		NA WA	242
rs811457^1,2	F,A,	--	89054817(-)	`CGGCCC/GTGCAG`	2	--	us2k¹		3		MN WA NA	422
rs803894^1,2	F,H	--	89055049(+)	`GCGGCC/TGGAGT`	2	--	int¹		7		MN NS EA NA	574
rs112643631^1,2	C,	--	89055093(+)	`CGTGCC/TGGCGT`	2	--	int¹		2		NA	122
rs76973802^1,2	C,	--	89055696(+)	`GGGGGC/TTCAGA`	2	--	int¹		2		NA	122
rs73655470^1,2	C,	--	89056133(+)	`ATAAAC/TCTTCA`	2	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for TRIM32 (119449581 - 119463579 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TRIM32: --
Human Gene Mutation Database (HGMD): TRIM32

Locus Specific Mutation Databases (LSDB): TRIM32

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TRIM32

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TRIM32 for disorders           About GeneDecksing

OMIM gene information: 602290
OMIM disorders: 254110  209900
UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049

Defects in TRIM32 are the cause of limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]; also known as

muscular dystrophy Hutterite type. LGMD2H is an autosomal recessive degenerative myopathy characterized by pelvic

girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease

progression is slow and most patients remain ambulatory into the sixth decade of life

Defects in TRIM32 are the cause of Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]. Bardet-Biedl syndrome

(BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary

retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary

features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is

found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the

high rate of consaguinity in these populations and a founder effect

15 diseases for TRIM32: About MalaCards

limb-girdle muscular dystrophy muscular dystrophy limb-girdle muscular dystrophy type 2i limb-girdle muscular dystrophy type 2h

bardet-biedl syndrome 11 bardet-biedl syndrome pigmentary retinopathy lafora disease

polydactyly retinal disease retinitis myopathy

ataxia prostatitis neuronitis

1 disease from the University of Copenhagen DISEASES database for TRIM32:

Muscular dystrophy

10/12 Novoseek disease relationships for TRIM32 gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lgmd2h	99.3	15	16816390 (4), 11822024 (2), 14959561 (1), 11665864 (1) (see all 7)
lgmd2g	97.3	4	14959561 (1), 15316618 (1), 11665864 (1)
lgmd2f	93.5	3	14959561 (1), 15316618 (1)
lgmd2i	93.4	3	14959561 (1), 15316618 (1)
lgmd2e	93.1	3	14959561 (1), 15316618 (1)
lgmd1a	92	1	15316618 (1)
lgmd2b	91	4	14959561 (1), 15316618 (1), 11665864 (1)
muscular dystrophy limb-girdle	89.1	2	17994549 (1), 16243356 (1)
lgmd2a	88	4	14959561 (1), 15316618 (1), 11665864 (1)
muscular dystrophies	74.8	1	17994549 (1)

GeneTests: TRIM32

Bardet-Biedl Syndrome

Human Genome Epidemiology (HuGE) Navigator: TRIM32 (4 documents)

Export disorders for TRIM32 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TRIM32 gene, integrated from 9 sources (see all 54):
(articles sorted by number of sources associating them with TRIM32)

Utopia: connect your pdf to the dynamic
world of online information

Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins. (PubMed id 7778269)^{1, 2, 3, 9} Fridell R.A.... Cullen B.R. (1995)
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (PubMed id 16606853)^{1, 2, 3} Chiang A.P....Sheffield V.C. (2006)
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. (PubMed id 17994549)^{1, 2, 9} Saccone V.... Nigro V. (2008)
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. (PubMed id 11822024)^{1, 2, 9} Frosk P.... Wrogemann K. (2002)
TRIM32 is an E3 ubiquitin ligase for dysbindin. (PubMed id 19349376)^{1, 2} Locke M.... Blake D.J. (2009)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The tripartite motif family identifies cell compartments. (PubMed id 11331580)^{1, 3} Reymond A.... Ballabio A. (2001)
The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB. (PubMed id 16816390)^{1, 9} Albor A....Kulesz-Martin M. (2006)
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. (PubMed id 19303295)^{1, 9} CossAce M....Mandel J.L. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 22954	HGNC: 16380	AceView: TRIM32	Ensembl:ENSG00000119401	euGenes: HUgn22954
ECgene: TRIM32	Kegg: 22954	H-InvDB: TRIM32

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TRIM32	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TRIM32	Genetics and Cytogenetics in Oncology and Haematology
LEIDEN Muscular Dystrophy page for TRIM32	Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRIM32

Intellectual Property for TRIM32 gene
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Patent Information for TRIM32 gene:
Search GeneIP for patents involving TRIM32

GeneCards and IP:
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tripartite motif containing 32

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TRIM32 Gene

tripartite motif containing 32

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