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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HLA-DMA Gene

protein-coding GIFtS: 61
GCID: GC06M032919

major histocompatibility complex, class II, DM alpha

Explore 33 diseases affiliated with
HLA-DMA 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
Major Histocompatibility Complex, Class II, DM Alpha¹ ²		MHC Class II Antigen DMA² ³
RING6¹ ² ³ ⁵		HLADM²
D6S222E¹ ²		Class II Histocompatibility Antigen, M Alpha Chain²
Really Interesting New Gene 6 Protein² ³		HLA Class II Histocompatibility Antigen, DM Alpha Chain²
DMA² ³

External Ids:	HGNC: 4934¹	Entrez Gene: 3108²	Ensembl: ENSG00000204257⁷	OMIM: 142855⁵	UniProtKB: P28067³

Export aliases for HLA-DMA gene to outside databases

Previous GC identifers: GC06M032913 GC06M032687 GC06M032963 GC06M033024 GC06M032917 GC06M032918 GC06M032658

(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 HLA-DMA:

HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an

alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a

central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide

binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells,

macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader

peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the

cytoplasmic tail. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DMA_HUMAN, P28067

Function: Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from

newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides.

In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO

Gene Wiki entry for HLA-DMA

(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_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1

NT_167248.1 NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HLA-DMA gene promoter:
Max TBP SRY deltaCREB TFIID IRF-7A c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HLA-DMA promoter sequence

Search SABiosciences Chromatin IP Primers for HLA-DMA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-DMA

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

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3

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

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M032919: view genomic region (about GC identifiers)

Start:	32,916,390 bp from pter	End:	32,938,493 bp from pter
Size:	22,104 bases	Orientation:	minus strand

6/7 alternative locations (see all 7):

Chr6-,ALT_REF_LOCI_6 32,845,119-32,885,212	Chr6-,ALT_REF_LOCI_1 32,899,979-32,912,791	Chr6-,ALT_REF_LOCI_5 32,864,667-32,869,178
Chr6-,ALT_REF_LOCI_4 32,993,261-32,997,770	Chr6-,ALT_REF_LOCI_2 32,838,712-32,882,412	Chr6-,ALT_REF_LOCI_3 32,894,331-32,909,881

(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: DMA_HUMAN, P28067 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DM alpha chain precursor

Size: 261 amino acids; 29194 Da

Subunit: Heterodimer of an alpha chain (DMA) and a beta chain (DMB)

Subcellular location: Late endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type

I membrane protein. Note=Localizes to late endocytic compartment. Associates with lysosome membranes

4 PDB 3D structures from and Proteopedia for HLA-DMA:

1HDM (3D)

2BC4 (3D)

4FQX (3D)

4GBX (3D)

Secondary accessions: Q29639 Q29640

Explore the universe of human proteins at neXtProt for HLA-DMA: NX_P28067

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P28067

HLA-DMA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006111.2

ENSEMBL proteins:

ENSP00000378716 ENSP00000378714 ENSP00000363976 ENSP00000409668 ENSP00000403122

Reactome Protein details: P28067
Human Recombinant Protein Products:

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	Novus Biologicals HLA-DMA Proteins Novus Biologicals HLA-DMA Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005764	lysosome	--	--
GO:0005765	lysosomal membrane	TAS	--
GO:0005770	late endosome	--	--
GO:0005771	multivesicular body	IEA	--

HLA-DMA for ontologies About GeneDecksing

HLA-DMA Antibody Products:

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	Novus Biologicals HLA-DMA Antibodies
	Abcam antibodies for HLA-DMA
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	Search ThermoFisher Antibodies for HLA-DMA

Assay Products for HLA-DMA:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for HLA-DMA
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

HLA-DMA for domains About GeneDecksing

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

IPR001003 MHC_II_a_N

IPR011162 MHC_I/II-like_Ag-recog

IPR013783 Ig-like_fold

IPR014745 MHC_II_a/b_N

IPR003597 Ig_C1-set

Graphical View of Domain Structure for InterPro Entry P28067

ProtoNet protein and cluster: P28067

2 Blocks protein families:

IPB001003 MHC Class II alpha chain

IPB003597 Immunoglobulin C-type

UniProtKB/Swiss-Prot: DMA_HUMAN, P28067

Similarity: Belongs to the MHC class II family

Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

(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: DMA_HUMAN, P28067

Function: Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from

newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides.

In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO

Genatlas biochemistry entry for HLA-DMA:

HLA-DM,alpha chain,class II related,expressed in B cell lysosomes,same as RING6

miRNA Products:		OriGene 3'-UTR Clone: HLA-DMA Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HLA-DMA
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		SwitchGear 3'UTR luciferase reporter plasmid: HLA-DMA 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 HLA-DMA OriGene shRNA RFP: HLA-DMA OriGene siRNA: HLA-DMA
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HLA-DMA

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: HLA-DMA (NM_006120)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HLA-DMA
		Search LifeMap BioReagents cell lines for HLA-DMA

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DMA

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

HLA-DMA for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for HLA-DMA: H2-DMa^H2-tm1Liz H2-DMa^H2-tm1Lkrl H2-DMa^H2-tm1Doi H2-DMa^H2-tm1Luc H2-DMa^H2-tm2Liz
     5 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for H2-DMa):

cellular

growth/size

hematopoietic system

immune system

mortality/aging

HLA-DMA 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 - 5/24 super-pathways (see all 24) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Allograft rejection

8/10 pathways (see all 10)
Allograft rejection	1.00	THC Differentiation Pathway	0.39
Type I diabetes mellitus	0.67	CTL Mediated Apoptosis	0.38
Graft-versus-host disease	0.63	Intestinal immune network for IgA production	0.38
Autoimmune thyroid disease	0.60	Viral myocarditis	0.33

ICos-ICosL Pathway in T-Helper Cell

	ICos-ICosL Pathway in T-Helper Cell	1.00			Calcium Mediated T-Cell Apoptosis	0.31
	CD28 Signaling in T-Helper Cell	0.66

PKC-Theta Pathway

	PKC-Theta Pathway	1.00			ITK and TCR Signaling	0.54
	TCR Signaling	0.68

Immune response_NFAT in immune response

Immune response_NFAT in immune response

1.00

Immune response NFAT in immune response

0.91

Immune response_ICOS pathway in T-helper cell

Immune response_ICOS pathway in T-helper cell

1.00

Immune response ICOS pathway in T-helper cell

0.91

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for HLA-DMA (see all 6)

	Immune response Antigen presentation by MHC class II
	G-protein signaling N-RAS regulation pathway
	Immune response IL-22 signaling pathway
	Immune response NFAT in immune response
	Immune response ICOS pathway in T-helper cell

5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HLA-DMA (see all 12)

	THC Differentiation Pathway
	Calcium Mediated T-Cell Apoptosis
	IL-4 Pathway
	ICos-ICosL Pathway in T-Helper Cell
	CDC42 Pathway

5/6 GeneGo (Thomson Reuters) Pathways for HLA-DMA (see all 6)

	Immune response Antigen presentation by MHC class II
	Immune response ICOS pathway in T-helper cell
	Immune response T cell receptor signaling pathway
	Immune response IL-22 signaling pathway
	G-protein signaling N-RAS regulation pathway

1 BioSystems Pathway for HLA-DMA

Diurnally regulated genes with circadian orthologs

3 Reactome Pathways for HLA-DMA

	Adaptive Immune System
	Immune System
	MHC class II antigen presentation

5/17 Kegg Pathways (Kegg details for HLA-DMA) (see all 17):

	Phagosome
	Cell adhesion molecules (CAMs)
	Antigen processing and presentation
	Intestinal immune network for IgA production
	Type I diabetes mellitus

HLA-DMA for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HLA-DMA

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

5/47 Interacting proteins for HLA-DMA (P28067^{2, 3} ENSP00000363976⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HLA-DRB1	Q9GIY3³, ENSP00000353099⁴	I2D: score=1 STRING: ENSP00000353099
HLA-DMB	P28068²^,³, ENSP00000398890⁴	MINT-24982 I2D: score=2 STRING: ENSP00000398890
ENSG00000206306	Q9GIY3³	I2D: score=1
CD74	ENSP00000009530⁴	STRING: ENSP00000009530
HLA-DOA	ENSP00000229829⁴	STRING: ENSP00000229829

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002504	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	--	--
GO:0006461	protein complex assembly	IEA	--
GO:0006955	immune response	--	--
GO:0015031	protein transport	IEA	--
GO:0016064	immunoglobulin mediated immune response	IEA	--

HLA-DMA 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

HLA-DMA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HLA-DMA
5 Novoseek chemical compound relationships for HLA-DMA gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
oligonucleotide	3.45	3	15547082 (1), 11775239 (1), 10689120 (1)
hydrogen	0.727	8	19767569 (2), 14707085 (2), 17143275 (1)
tyrosine	0	3	10602001 (2), 9659222 (1)
leucine	0	1	12009208 (1)
histidine	0	1	17143275 (1)

Search CenterWatch for drugs/clinical trials and news about HLA-DMA / DMA

(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 HLA-DMA gene:

NM_006120.3

Unigene Cluster for HLA-DMA:

Major histocompatibility complex, class II, DM alpha

Hs.728759 [show with all ESTs]

Unigene Representative Sequence: AK055186

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

ENST00000480785 ENST00000395305 ENST00000395303 ENST00000477541(uc011dqm.1)

ENST00000374843(uc003ocm.2) ENST00000473725 ENST00000464392 ENST00000456800

ENST00000422832 ENST00000475627

miRNA Products:		OriGene 3'-UTR Clone: HLA-DMA Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HLA-DMA
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HLA-DMA
		SwitchGear 3'UTR luciferase reporter plasmid: HLA-DMA 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 HLA-DMA OriGene shRNA RFP: HLA-DMA OriGene siRNA: HLA-DMA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLA-DMA

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		GenScript: all cDNA clones in your preferred vector: HLA-DMA (NM_006120)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-DMA

Additional cDNA sequence:

AK055186.1 AK291858.1 AK298081.1 AK310162.1 BC011447.1 BC026279.1 CR450324.1 X62744.1

24/30 DOTS entries (see all 30):

DT.417533 DT.100817259 DT.95320419 DT.95116464 DT.214633 DT.121352380 DT.100641850 DT.101962365

DT.121352518 DT.92426584 DT.121352479 DT.121352670 DT.40211682 DT.95204007 DT.100739123 DT.100817254

DT.100817260 DT.92063851 DT.100817261 DT.121352376 DT.92426591 DT.92443008 DT.95248538 DT.97859453

24/565 AceView cDNA sequences (see all 565):

BF913242 CR450324 BX115870 BM464610 AA748710 BI824486 AW002411 AA811366

AA634608 BU195167 BG057811 N29447 CA413444 H13691 BQ346777 BG756282

BQ217488 AI362723 BG546214 BI821584 CR591828 BE857060 BM904240 R83739

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

HLA-DMA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGACAGTGA

About this image

HLA-DMA expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Umbilical Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HLA-DMA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HLA-DMA

SOURCE GeneReport for Unigene cluster: Hs.728759

SABiosciences Expression via Pathway-Focused PCR Array including HLA-DMA:

Antigen Presenting Cells in human mouse rat

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

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DMA

(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 HLA-DMA gene from 3/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BMA1¹	B locus M alpha chain 1	52.56(n) 38.14(a)		417050 NM_001099353.2 NP_001092823.1
lizard (Anolis carolinensis)	Reptilia	HLA-DMA⁶	--	46(a)	1 ↔ 1	4(93367241-93368742)
zebrafish (Danio rerio)	Actinopterygii	si:busm1-48c11.3⁶ si:zfos-2070c2.1⁶ (see all 10)	si:zfos-2070c2.1 (see all 10)	23(a) 23(a) (see all 10)	many ↔ many many ↔ many (see all 10)	8(36283500-36286998) 8(37488525-37498906)

ENSEMBL Gene Tree for HLA-DMA (if available)
TreeFam Gene Tree for HLA-DMA (if available)

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

Paralogs for HLA-DMA gene

HLA-DRB5² HLA-DQA1² HLA-DPA1² HLA-DQB1² HLA-DRA² HLA-DOB² HLA-DRB1² HLA-DQB2²

ENSG00000248993² HLA-DOA² HLA-DMB² HLA-DQA2² HLA-DPB1²

18/19 SIMAP similar genes for HLA-DMA using alignment to 25 protein entries: DMA_HUMAN (see all proteins) (see all similar genes):

DMA HLA-DQA2 HLA-DMB HLA-DQA1/DRA HLA-DQA1 HLA-DPA1

HLA-DOA DKFZp667J0810 IGLC7 C1 segment HLA-DRA IGLC6

DKFZp781M0386 IGL@ IGLC1 IGLC2 IGLC3 IGLL5

HLA-DMA 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

UniProtKB/Swiss-Prot: DMA_HUMAN, P28067

Polymorphism: The following alleles of DMA are known: DMA*01:01, DMA*01:02, DMA*01:03 (DMA3.2) and DMA*01:04 (DMA3.4).

The sequence shown is that of DMA*01:01

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116611693^1,2	C,F,	--	32658950(+)	`CTTGTG/TGGGGG`	1	--	ut3¹		1		NA	120
rs11539214^1,2	C	--	32659032(-)	`TTTCCC/TACCTG`	1	--	ut3¹ ese³		0	--	--	--	--
rs9469319^1,2	C,F,H,	--	32659658(+)	`GGCCAC/TGCCAC`	2	M V	mis¹ ese³		10		NS EA NA	5900
rs41555121^1,2	C,F,	--	32659943(-)	`TGACCG/ACTACA`	2	/H /R	mis¹		5		NA EA EU	6037
rs17214044^1,2	C,F,	--	32659944(+)	`GTAGCG/AGTCAA`	2	/R /C	mis¹		6		MN NA EU	6093
rs6926628^1,2	C,F,H,	--	32660030(+)	`TGAGTC/GCATCG`	2	A G	mis¹		11		NA NS EA EU	6547
rs111896056^1,2	C	--	32660075(+)	`CAGGGA/C/TCGGAA`	3	D G V	mis¹		1		CSA	1
rs11539216^1,2	C,F,H,	--	32660512(-)	`GATGAC/TGTGAC`	1	--	int¹		20		NA NS EA	2376
rs17617515^1,2	C,F,H,	--	32660656(+)	`ACTTCG/TGCCCA`	1	--	int¹		15		NA NS EA	1584
rs11539215^1,2	C	--	32660847(-)	`GATGGA/GAAAAT`	2	G	syn¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HLA-DMA (32916390 - 32938493 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for HLA-DMA
2 CNVs: 0076 3604
Locus Specific Mutation Databases (LSDB): HLA-DMA

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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

HLA-DMA for disorders           About GeneDecksing

OMIM gene information: 142855    OMIM disorders: --

20/33 diseases for HLA-DMA (see all 33):    About MalaCards

graft versus host disease type 1 diabetes mellitus lupus erythematosus diabetes mellitus

cardiac sarcoidosis systemic lupus erythematosus sarcoidosis atopic dermatitis

rheumatoid arthritis acute lymphoblastic leukemia multiple sclerosis lymphoblastic leukemia

measles autoimmune thyroiditis dermatitis myopathy

toxoplasmosis influenza psoriasis leishmaniasis

10/16 Novoseek disease relationships for HLA-DMA gene (see all 16) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hla-do	97.7	56	19019088 (6), 15849268 (4), 10631952 (4), 12663675 (3) (see all 26)
autoimmune diseases	41.4	1	11775239 (1)
rheumatoid arthritis	32.4	19	10689121 (3), 10575273 (2), 9153546 (2), 10689120 (2) (see all 11)
autoimmunity	25.7	2	11046010 (1), 18506881 (1)
genetic susceptibility	25	4	12648225 (1), 10371284 (1), 11775239 (1), 9153546 (1)
tumors	3.15	6	16987935 (4), 14705986 (1)
measles	0	4	12786997 (2), 15165177 (1)
lupus erythematosus systemic	0	3	12858445 (2), 15547089 (1)
diabetes mellitus insulin-dependent	0	1	10519369 (1)
necrosis	0	1	14705986 (1)

Genetic Association Database (GAD): HLA-DMA
Human Genome Epidemiology (HuGE) Navigator: HLA-DMA (21 documents)

Export disorders for HLA-DMA 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)
About This Section

PubMed articles for HLA-DMA gene, integrated from 9 sources (see all 225):
(articles sorted by number of sources associating them with HLA-DMA)

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

Association of TAP and HLA-DM genes with psoriasis in Koreans. (PubMed id 12648225)^{1, 4, 9} Pyo C.W....Kim T.G. (2003)
Polymorphism of HLA-DMA and DMB alleles in patients with systemic lupus erythematosus. (PubMed id 12858445)^{1, 4, 9} Morel J....Eliaou J.F. (2003)
HLA-DMA*0103 and HLA-DMB*0104 alleles as novel prognostic factors in rheumatoid arthritis. (PubMed id 15547082)^{1, 4, 9} Morel J....Combe B. (2004)
Association of HLA-DM polymorphism with the production of antiphospholipid antibodies. (PubMed id 15547089)^{1, 4, 9} Sanchez M.L....Khamashta M.A. (2004)
Lack of association between transporter associated with antigen processing (TAP) and HLA-DM gene polymorphisms and antibody levels following measles vaccination. (PubMed id 12786997)^{1, 4, 9} Dhiman N....Poland G.A. (2003)
HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians. (PubMed id 11881821)^{1, 4, 9} Moxley G. and Han J. (2001)
Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese. (PubMed id 11775239)^{1, 4, 9} Zhu X....Wang F. (2000)
The structure of HLA-DM, the peptide exchange catalyst that loads antigen onto class II MHC molecules during antigen presentation. (PubMed id 9768757)^{1, 2, 9} Mosyak L.... Wiley D.C. (1998)
The complexity of HLA class II (DRB1, DQB1, DM) associations with disseminated Mycobacterium avium complex infection among HIV-1-seropositive whites. (PubMed id 12794545)^{1, 4} Naik E....Kaslow R.A. (2003)
Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia. (PubMed id 11180452)^{1, 4} Bitti P.P....Bernardinelli L. (2001)

(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: 3108	HGNC: 4934	AceView: HLA-DMBandHLA-DMA	Ensembl:ENSG00000204257	euGenes: HUgn3108
ECgene: HLA-DMA	Kegg: 3108	H-InvDB: HLA-DMA

(According to HUGE)
About This Section

(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 HLA-DMA	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HLA-DMA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for HLA-DMA gene:
Search GeneIP for patents involving HLA-DMA

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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major histocompatibility complex, class II, DM alpha

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