TMEM246 Gene

Aliases
for TMEM246 gene

(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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Summaries
for TMEM246 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for TMEM246 gene

(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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RefSeq DNA sequence at NCBI GenBank:

NC_000009.11  NT_008470.20  NC_018920.2  

Browse SwitchGear Promoter luciferase reporter plasmids

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM246

TMEM246 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M104236:  view genomic region     (about GC identifiers)

Proteins
for TMEM246 gene

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for TMEM246: NX_Q9BRR3

Explore proteomics data for TMEM246 at MOPED

Post-translational modifications: 

TMEM246 Human Recombinant Protein Products:

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	OriGene Purified Protein for TMEM246 OriGene Protein Over-expression Lysate for TMEM246 OriGene MassSpec for TMEM246 OriGene Custom Protein Services for TMEM246
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	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.
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	Search antibodies-online for proteins for TMEM246
	antibodies-online peptides for TMEM246

TMEM246 Antibody Products:

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	Abcam antibodies for TMEM246
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	ThermoFisher Antibodies for TMEM246
	antibodies-online antibodies for TMEM246 (2 products)

TMEM246 Assay Products:

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	GenScript Custom Assay Services for TMEM246
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for TMEM246
	antibodies-online kits for TMEM246

Domains /
Families
for TMEM246 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q9BRR3

Function
for TMEM246 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Localization
for TMEM246 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 cellular component term:    About this table

Pathways & Interactions
for TMEM246 gene

(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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Drugs & Compounds
for TMEM246 gene

(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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Transcripts
for TMEM246 gene

(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for TMEM246 gene

(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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TMEM246 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGGATAGATT

About this image

Blood (Cardiovascular System)    fully expand to see all 2 entries
Hematopoietic Stem Cells Hematopoietic Bone Marrow
Adipose (Muscoskeletal System)
Interscapular Brown Adipose Depot
Liver (Hepatobiliary System)
Hematopoietic Stem Cells Liver Bud

Primer Products:		OriGene qPCR primer pairs and template standards for TMEM246 OriGene qSTAR qPCR primer pairs in human, mouse for TMEM246
		Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat TMEM246
		QuantiTect SYBR Green Assays in human, mouse, rat TMEM246
		QuantiFast Probe-based Assays in human, mouse, rat TMEM246

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM246

Orthologs
for TMEM246 gene

(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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Paralogs
for TMEM246 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TMEM246 gene

1 SIMAP similar gene for TMEM246 using alignment to 1 protein entry:     TM246_HUMAN:

C9orf125

Find genes that share paralogs with TMEM246           About GenesLikeMe

Genomic Variants
for TMEM246 gene

(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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Selected SNPs for TMEM246 (see all 310)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1866007901,2		--	104237212(+)	ACGTCA/GTTAGG	1	--	int1		0	--	--	--	--
rs78576681,2	C,A	--	104237269(+)	CCATGC/ATTTTT	1	--	int1		5		NA CSA	9
rs607715961,2	C	--	104237270(+)	TTTTCT/-TATAA	1	--	int1		1		NA	2
rs1894426161,2	C	--	104237382(+)	CTCCCC/TTATAT	1	--	int1		0	--	--	--	--
rs727433701,2	C,F	--	104237431(+)	GTAGTA/TCAGAA	1	--	int1		5		NA WA EA	362
rs1129264781,2	F	--	104237560(+)	CAGATC/ATATAG	1	--	int1		1		CSA	2
rs1860209731,2		--	104237724(+)	TACATA/CCATTT	1	--	ut31		0	--	--	--	--
rs37397261,2	C,F,H	--	104237770(+)	TCTCAC/TCTTTC	1	--	ut31 ese3		5		EA NS	1916
rs1395761021,2		--	104237804(+)	TAAAAC/TAGTCA	1	--	ut31		0	--	--	--	--
rs1141768441,2	C,F	--	104237949(+)	GTGGAG/AGGAGA	1	--	ut31		1		WA	118

HapMap Linkage Disequilibrium report for TMEM246 (104235453 - 104295819 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for TMEM246: --

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing TMEM246

DNA2.0 Custom Variant and Variant Library Synthesis for TMEM246

Disorders / Diseases
for TMEM246 gene

(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.)
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Publications
for TMEM246 gene

(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 TMEM246 gene integrated from 10 sources: (articles sorted by number of sources associating them with TMEM246)

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

1. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (Nature 2004)
2. 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. (Genome Res. 2004)
3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)² Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)¹ Wang J....Yang X. (Mol. Syst. Biol. 2011)
6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)
7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (amp 2011)

External Searches for TMEM246 gene

Genome Databases showing TMEM246 gene

Other Databases showing TMEM246 gene

Specialized Databases showing TMEM246 gene

Products
for TMEM246 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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