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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TM4SF19 Gene

protein-coding GIFtS: 45
GCID: GC03M196042

transmembrane 4 L six family member 19

Search for TM4SF19
in

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane 4 L Six Family Member 19¹ ²
Osteoclast Maturation-Associated Gene 4 Protein² ³
Tetraspan Membrane Protein OCTM4² ³
Transmembrane 4 L6 Family Member 19²

External Ids:	HGNC: 25167¹	Entrez Gene: 116211²	Ensembl: ENSG00000145107⁷	UniProtKB: Q96DZ7³

ORGUL members:
	NONCODE:n410700

Export aliases for TM4SF19 gene to outside databases

Previous GC identifers: GC03M197508 GC03M197531 GC03M193348

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

(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_000003.11 NC_018914.1 NT_029928.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TM4SF19 gene promoter:
C/EBPbeta Pbx1a HSF1 (long) MyoD C/EBPalpha RORalpha1 CHOP-10 POU2F1 POU2F1a HSF1short
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TM4SF19 promoter sequence

Search SABiosciences Chromatin IP Primers for TM4SF19

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TM4SF19

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

Entrez Gene cytogenetic band: 3q29 Ensembl cytogenetic band: 3q29 HGNC cytogenetic band: 3q29

TM4SF19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TM4SF19 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M196042: view genomic region (about GC identifiers)

Start:	196,042,953 bp from pter	End:	196,065,374 bp from pter
Size:	22,422 bases	Orientation:	minus 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: T4S19_HUMAN, Q96DZ7 (See protein sequence)

Recommended Name: Transmembrane 4 L6 family member 19

Size: 209 amino acids; 22433 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Secondary accessions: B2RV20 E9PH22 Q336K7

Alternative splicing: 2 isoforms: Q96DZ7-1 Q96DZ7-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TM4SF19: NX_Q96DZ7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96DZ7

TM4SF19 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001191826.1 NP_001191827.1 NP_612470.2

ENSEMBL proteins:

ENSP00000405973 ENSP00000395280 ENSP00000414864 ENSP00000387728 ENSP00000273695

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

TM4SF19 for ontologies About GeneDecksing

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

TM4SF19 for domains About GeneDecksing

1 InterPro domain/family:

IPR008661 L6_membrane

Graphical View of Domain Structure for InterPro Entry Q96DZ7

ProtoNet protein and cluster: Q96DZ7

1 Blocks protein family: IPB008661 L6 membrane

UniProtKB/Swiss-Prot: T4S19_HUMAN, Q96DZ7

Similarity: Belongs to the L6 tetraspanin family

(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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TM4SF19
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About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TM4SF19

(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

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(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,
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About This Section

REFSEQ mRNAs for TM4SF19 gene (3 alternative transcripts):

NM_001204897.1 NM_001204898.1 NM_138461.3

Unigene Cluster for TM4SF19:

Transmembrane 4 L six family member 19

Hs.733264 [show with all ESTs]

Unigene Representative Sequence: AK310209

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

ENST00000442633(uc003fwj.3) ENST00000446879(uc010iad.2) ENST00000440822

ENST00000454715(uc011btv.2) ENST00000273695(uc003fwl.2 uc021xjs.1)

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Additional cDNA sequence:

AF192910.1 AK310209.1 BC146985.1 BC146993.1 BC147021.1 BC171824.1 BC171870.1

3 DOTS entries:

DT.100021751 DT.97836557 DT.40189303

24/76 AceView cDNA sequences (see all 76):

AI419510 CA772543 AA642108 AW016718 AI380016 BC015348 AA327608 CA950854

BE549966 AI633800 BM311000 BM311591 BX119411 BX098544 CA848186 BG168937

BU633848 BM550337 BG722153 AI479561 BC013113 BM808243 CA771710 CD368238

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TM4SF19 (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11
SP1:															-		-		-
SP2:																							-				-
SP3:
SP4:																							-
SP5:							-

ECgene alternative splicing isoforms for TM4SF19

(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

TM4SF19 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATAGGATAA

About this image

TM4SF19 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TM4SF19 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.733264

SABiosciences Custom PCR Arrays for TM4SF19

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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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TM4SF19 gene from 3/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tm4sf19^{1 , 5}	transmembrane 4 L six family member 19^{1, 5}	83.93(n)¹ 82.56(a)¹		16 (22.66 cM)⁵ 277203¹ NM_001160402.1¹ NP_001153874.1¹ 32400506⁵
chicken (Gallus gallus)	Aves	TM4SF19¹	transmembrane 4 L six family member 19	53.47(n) 39.06(a)		424855 XM_422666.3 XP_422666.3
lizard (Anolis carolinensis)	Reptilia	TM4SF19⁶	--	44(a)	1 ↔ 1	3(30679127-30683090)

ENSEMBL Gene Tree for TM4SF19 (if available)
TreeFam Gene Tree for TM4SF19 (if available)

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

Paralogs for TM4SF19 gene

TM4SF5² TM4SF4² TM4SF18² TM4SF1²

18/28 SIMAP similar genes for TM4SF19 using alignment to 5 protein entries: T4S19_HUMAN (see all proteins) (see all similar genes):

TCTEX1D2 pp12301 KIAA0101 SEC14L3 COQ5 TUBA1C

FP6651 LOC100996300 OK/SW-cl.41 HC6 C3orf64 KIAA1651

SH2B3 GALK2 X-linked retinopathy protein FP6778 LINC00269 C9orf85

TM4SF19 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 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112091630^1,2	C,	--	196050060(+)	`AAGAC-/CAGA CAGAC`	4	--	int¹		1		CSA	2
rs75236358^1,2	C	--	196050066(+)	`CAGACA/TGGGCA`	4	--	int¹		0	--	--	--	--
rs185814918^1,2		--	196050151(+)	`TACTCA/GGAGGC`	4	--	int¹		0	--	--	--	--
rs147618239^1,2	C,	--	196050268(+)	`AACAA-/AACAACAG`	4	--	int¹		0	--	--	--	--
rs150793666^1,2		--	196050280(+)	`GGGAGA/TTAGGG`	4	--	int¹		0	--	--	--	--
rs115306130^1,2		--	196050323(+)	`TGTGCT/CTTTAC`	4	--	int¹		1		WA	118
rs117583346^1,2	C,F,	--	196050331(+)	`TACAGC/TAAGCC`	4	--	int¹		1		EA	120
rs139136804^1,2		--	196050523(+)	`TTAAAA/GTGCAT`	4	--	int¹ ut3¹		0	--	--	--	--
rs112688644^1,2	F,	--	196050611(+)	`AATTCG/ATACCC`	5	/R /*	ut3¹ stg¹ int¹		3		CSA	6
rs201476999^1,2		--	196050646(+)	`CAGCCA/GATGAT`	5	S L	ut3¹ nc-transcript-variantmis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TM4SF19 (196042953 - 196065374 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for TM4SF19
     6 CNVs: 43285 80107 80106 80105 3472 91836
     2 Indels: 46377 68556
     2 Inversions: 37243 0568
Human Gene Mutation Database (HGMD): TM4SF19

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

TM4SF19 for disorders About MalaCards

TM4SF19 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: TM4SF19 (1 document)

Export disorders for TM4SF19 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 TM4SF19 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TM4SF19)

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

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)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (2006)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 116211	HGNC: 25167	AceView: LOC116211	Ensembl:ENSG00000145107	euGenes: HUgn116211
ECgene: TM4SF19	H-InvDB: TM4SF19

(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 TM4SF19	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TM4SF19 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TM4SF19 gene:
Search GeneIP for patents involving TM4SF19

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes TM4SF19 gene at Home site.

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TM4SF19 Gene

transmembrane 4 L six family member 19

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TM4SF19 Gene

transmembrane 4 L six family member 19

Aliasesfor TM4SF19 gene

Summariesfor TM4SF19 gene

Genomic Viewsfor TM4SF19 gene

Proteinsfor TM4SF19 gene

Protein Domains /Familiesfor TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene

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for TM4SF19 gene