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PNMA6A Gene

protein-coding GIFtS: 37
GCID: GC0XP152338

Paraneoplastic Ma Antigen Family Member 6A

(Previous name: paraneoplastic antigen like 6A)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Paraneoplastic Ma Antigen Family Member 6A¹ ²		Paraneoplastic Antigen-Like 6A Related Protein²
Paraneoplastic Antigen Like 6A¹ ²		Paraneoplastic Antigen-Like Protein 6A²
PNMA6² ⁵		Paraneoplastic Antigen-Like Protein 6A Related²
MA6²		Paraneoplastic Antigen-Like Protein 6C²
PNMA6C²		Paraneoplastic Ma Antigen Family Member 6C²
Paraneoplastic Antigen Like 6C²

External Ids:	HGNC: 28248¹	Entrez Gene: 84968²	Ensembl: ENSG00000224201⁷	OMIM: 300917⁵	UniProtKB: P0CW24³

Export aliases for PNMA6A gene to outside databases

Previous GC identifers: GC0XP150859 GC0XP151911 GC0XP151991

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PNMA6A Gene:

PNMA6A (paraneoplastic Ma antigen family member 6A) is a protein-coding gene. Diseases associated with PNMA6A include neurologic diseases, and neuronitis. An important paralog of this gene is PNMA5.

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:

Regulatory transcription factor binding sites in the PNMA6A gene promoter:
CREB SREBP-1a deltaCREB SREBP-1c MyoD NRSF form 2 SREBP-1b
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PNMA6A promoter sequence

Search Chromatin IP Primers for PNMA6A

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNMA6A

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

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

PNMA6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNMA6A gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP152338: view genomic region (about GC identifiers)

Start:	152,240,839 bp from pter	End:	152,340,864 bp from pter
Size:	100,026 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
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UniProtKB/Swiss-Prot: PNM6A_HUMAN, P0CW24 (See protein sequence)

Recommended Name: Paraneoplastic antigen-like protein 6A

Size: 399 amino acids; 44006 Da

Secondary accessions: A8K1G4 D3DWT8 Q96A40

Explore the universe of human proteins at neXtProt for PNMA6A: NX_P0CW24

Explore proteomics data for PNMA6A at MOPED

Post-translational modifications:

Ubiquitination² at Lys244

See PNMA6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_116271.3

ENSEMBL proteins:

ENSP00000405718 ENSP00000441213

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PNMA: Paraneoplastic Ma antigens

1 InterPro protein domain:

IPR026523 PNMA

Graphical View of Domain Structure for InterPro Entry P0CW24

ProtoNet protein and cluster: P0CW24

UniProtKB/Swiss-Prot: PNM6A_HUMAN, P0CW24

Similarity: Belongs to the PNMA family

PNMA6A for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	1
mitochondrion	1
nucleus	1

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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--

PNMA6A for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for PNMA6A
Interactions:

Search GeneGlobe Interaction Network for PNMA6A

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for PNMA6A (P0CW24³ ENSP00000405718⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PNMA1	Q8ND90³, ENSP00000318914⁴	I2D: score=5 STRING: ENSP00000318914

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PNMA6A gene (2 alternative transcripts):

NM_001170944.1 NM_032882.5

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

ENST00000453825 ENST00000535416

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Selected AceView cDNA sequences (see all 41):

BG059973 AI675171 BM698946 BM703493 AW611713 N22466 AI885740 CA392698

BC007631 CA392699 BX118395 AL538406 BG116201 BX423799 BM805197 BM669739

AI498794 NM_032882 BX325209 BF972760 BX325210 BM715325 BF508272 AK055322

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PNMA6A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACTGTGGGAG

About this image

PNMA6A Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PNMA6A Protein Expression

Custom PCR Arrays for PNMA6A

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In Situ
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(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)
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This gene was present in the common ancestor of mammals.

Orthologs for PNMA6A gene from Selected species (see all 3) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
dog (Canis familiaris)	Mammalia	LOC100687496¹	collagen alpha-1(I) chain-like	64.78(n) 52.65(a)		100687496 XM_005641984.1 XP_005642041.1

ENSEMBL Gene Tree for PNMA6A (if available)
TreeFam Gene Tree for PNMA6A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PNMA6A gene

PNMA5² PNMA1² PNMA6D² PNMA2² PNMAL2² PNMA6C² MOAP1² PNMA3²

ZCCHC12² ZCCHC18² PNMAL1² PNMA6B²

8 SIMAP similar genes for PNMA6A using alignment to 1 protein entry: PNM6A_HUMAN:

PNMA6B PNMA6C PNMA6D PNMA1 MOAP1 PNMA2

PNMA3 PNMA5

PNMA6A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200998932^1,2	--	--	152337890(+)	`ACGCC-/TGTGGGGT`	2	--	cds¹		0	--	--	--	--
rs201997719^1,2	--	--	152340425(+)	`CGTATC/GGTGAG`	2	--	ds500¹		0	--	--	--	--
rs201232151^1,2	--	--	152339071(+)	`CAAAGC/TGTTTC`	4	A V	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PNMA6A (152240839 - 152340864 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for PNMA6A: About this table

Variant ID	Type	Subtype	PubMed ID
nsv9997	CNV	Gain	18304495
esv33199	CNV	Gain+Loss	17666407
essv6402	CNV	CNV	17122850
dgv2494e1	CNV	Complex	17122850
nsv7467	OTHER	Inversion	18451855

Locus Specific Mutation Databases (LSDB): PNMA6A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 300917 OMIM disorders: --

2 diseases for PNMA6A:
About MalaCards

neurologic diseases neuronitis

PNMA6A for disorders About GeneDecksing

Export disorders for PNMA6A 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 PNMA6A gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with PNMA6A)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 3} Ota T.... Sugano S. (Nat. Genet. 2004)
A functional -1 ribosomal frameshift signal in the human paraneoplastic Ma3 gene. (PubMed id 16407312)¹ Wills N.M....Atkins J.F. (J. Biol. Chem. 2006)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (Genome Res. 2006)
The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (Nature 2005)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (Cell 2005)
The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PubMed id 16214224)¹ Schueller M.... Voltz R. (J. Neuroimmunol. 2005)
Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network. (PubMed id 14676191)¹ Brajenovic M.... Drewes G. (J. Biol. Chem. 2004)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (Genome Res. 2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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)
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Entrez Gene: 84968	HGNC: 28248	AceView: PNMA6A	Ensembl:ENSG00000224201	euGenes: HUgn84968
ECgene: PNMA6A	H-InvDB: PNMA6A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PNMA6A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PNMA6A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PNMA6A gene:
Search GeneIP for patents involving PNMA6A

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

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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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Hot genes Disease genes PNMA6A gene at Home site.

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PNMA6A Gene

Paraneoplastic Ma Antigen Family Member 6A

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Export list of displayed genes

PNMA6A Gene

Paraneoplastic Ma Antigen Family Member 6A

Aliasesfor PNMA6A gene

Summariesfor PNMA6A gene

Genomic Viewsfor PNMA6A gene

Proteinsfor PNMA6A gene

PNMA6A Human Recombinant Protein Products:

PNMA6A Antibody Products:

PNMA6A Assay Products:

Domains /Familiesfor PNMA6A gene

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Localizationfor PNMA6A gene

Pathways & Interactionsfor PNMA6A gene

Drugs & Compoundsfor PNMA6A gene

Transcriptsfor PNMA6A gene

Expression for PNMA6A gene

Orthologsfor PNMA6A gene

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Genomic Variantsfor PNMA6A gene

Disorders / Diseasesfor PNMA6A gene

Publicationsfor PNMA6A gene

External Searches for PNMA6A gene

Genome Databases showing PNMA6A gene

Other Databases showing PNMA6A gene

Specialized Databases showing PNMA6A gene

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for PNMA6A gene

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for PNMA6A gene

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for PNMA6A gene

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for PNMA6A gene

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for PNMA6A gene

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for PNMA6A gene

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for PNMA6A gene

Pathways & Interactions
for PNMA6A gene

Drugs & Compounds
for PNMA6A gene

Transcripts
for PNMA6A gene

Expression
for PNMA6A gene

Orthologs
for PNMA6A gene

Paralogs
for PNMA6A gene

Genomic Variants
for PNMA6A gene

Disorders / Diseases
for PNMA6A gene

Publications
for PNMA6A gene

Intellectual Property
for PNMA6A gene

Products
for PNMA6A gene