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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM246 Gene

protein-coding GIFtS: 38
GCID: GC09M104236

Transmembrane Protein 246

(Previous name: chromosome 9 open reading frame 125)
(Previous symbol: C9orf125)

Search for TMEM246
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Transmembrane Protein 246¹ ²
C9orf125¹ ² ³
Chromosome 9 Open Reading Frame 125¹
Transmembrane Protein C9orf125²

External Ids:	HGNC: 28180¹	Entrez Gene: 84302²	Ensembl: ENSG00000165152⁷	UniProtKB: Q9BRR3³

Export aliases for TMEM246 gene to outside databases

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

GeneCards Summary for TMEM246 Gene:

TMEM246 (transmembrane protein 246) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NT_008470.19 NC_018920.2

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for TMEM246
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TMEM246

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM246

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

Entrez Gene cytogenetic band: 9q31.1 Ensembl cytogenetic band: 9q31.1 HGNC cytogenetic band: 9q31.1

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

GeneLoc information about chromosome 9 GeneLoc Exon Structure

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

Start:	104,235,453 bp from pter	End:	104,295,819 bp from pter
Size:	60,367 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TM246_HUMAN, Q9BRR3 (See protein sequence)

Recommended Name: Transmembrane protein 246

Size: 403 amino acids; 46588 Da

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

Secondary accessions: Q49AQ4

Explore the universe of human proteins at neXtProt for TMEM246: NX_Q9BRR3

Explore proteomics data for TMEM246 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9BRR3

TMEM246 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_115718.1

ENSEMBL proteins:

ENSP00000363980 ENSP00000363981 ENSP00000363984

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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	--

TMEM246 for ontologies About GeneDecksing

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

ProtoNet protein and cluster: Q9BRR3

UniProtKB/Swiss-Prot: TM246_HUMAN, Q9BRR3

Similarity: Belongs to the TMEM246 family

(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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Phenotypes:
1 GenomeRNAi human phenotype for TMEM246:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM246

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM246

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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TMEM246

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for TMEM246 (ENSP00000363980⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
B3GNT2	ENSP00000305595⁴	STRING: ENSP00000305595

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TMEM246 (TM246)

Search CenterWatch for drugs/clinical trials and news about TMEM246 / TM246

(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,
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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TMEM246 gene:

NM_032342.1

Unigene Cluster for TMEM246:

Transmembrane protein 246

Hs.655738 [show with all ESTs]

Unigene Representative Sequence: BC001209

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

ENST00000374847 ENST00000374848(uc004bbm.3) ENST00000374851 ENST00000482920

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Additional mRNA sequence:

AK313981.1 BC001209.1 BC006115.1 BC033550.1 BC113967.1

4 DOTS entries:

DT.97869902 DT.100775738 DT.100047586 DT.100705634

24/99 AceView cDNA sequences (see all 99):

BI838369 CK906095 CR605218 AA324731 BM694245 BM126838 CR613609 BC006115

F12489 BM127453 NM_032342 AL542387 CA390911 BU733116 BC033550 F10108

BX409704 AW770554 BE265669 BI549377 AW136225 BE840625 AL522885 AL599246

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM246 About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b
SP1:
SP2:					-

ECgene alternative splicing isoforms for TMEM246

(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

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

About this image

TMEM246 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/2 selected tissues (see all 2) fully expand


Blood (Hematopoietic System) fully expand to see all 2 entries
Hematopoietic Stem Cells Hematopoietic Bone Marrow

Liver (Hepatobiliary System)
Hematopoietic Stem Cells Liver Bud

See TMEM246 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM246

SOURCE GeneReport for Unigene cluster: Hs.655738

SABiosciences Custom PCR Arrays for TMEM246

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In Situ
Assay Products:

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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 animals.

Orthologs for TMEM246 gene from 6/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem246^{1 , 5}	RIKEN cDNA 2810432L12 gene⁵ transmembrane protein 246¹	88.17(n)¹ 98.26(a)¹		4 (26.63 cM)⁵ 67063¹ NM_025944.3¹ NP_080220.2¹ 49584506⁵
chicken (Gallus gallus)	Aves	CZH9orf125¹	chromosome Z open reading frame, human C9orf125	68.25(n) 65.79(a)		427309 XM_430497.2 XP_430497.2
lizard (Anolis carolinensis)	Reptilia	TMEM246⁶	Uncharacterized protein	57(a)	1 ↔ 1	2(58819315-58820529)
African clawed frog (Xenopus laevis)	Amphibia	BJ091892.1²	--	72.26(n)		BJ091892.1
zebrafish (Danio rerio)	Actinopterygii	zgc:153943¹	zgc:153943	48.21(n) 43.31(a)		768199 NM_001077341.1 NP_001070809.1
worm (Caenorhabditis elegans)	Secernentea	F35C11.4⁶	Protein F35C11.4	27(a)	1 ↔ 1	II(8249920-8251981)

ENSEMBL Gene Tree for TMEM246 (if available)
TreeFam Gene Tree for TMEM246 (if available)

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

Paralogs for TMEM246 gene

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

C9orf125

TMEM246 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) 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
				--	--	--		--	--
rs186600790^1,2		--	104237212(+)	`ACGTCA/GTTAGG`	1	--	int¹		0	--	--	--	--
rs7857668^1,2	C,A	--	104237269(+)	`CCATGC/ATTTTT`	1	--	int¹		5		NA CSA	9
rs60771596^1,2	C	--	104237270(+)	`TTTTCT/-TATAA`	1	--	int¹		1		NA	2
rs189442616^1,2	C	--	104237382(+)	`CTCCCC/TTATAT`	1	--	int¹		0	--	--	--	--
rs72743370^1,2	C,F	--	104237431(+)	`GTAGTA/TCAGAA`	1	--	int¹		5		NA WA EA	362
rs112926478^1,2	F	--	104237560(+)	`CAGATC/ATATAG`	1	--	int¹		1		CSA	2
rs186020973^1,2		--	104237724(+)	`TACATA/CCATTT`	1	--	ut3¹		0	--	--	--	--
rs3739726^1,2	C,F,H	--	104237770(+)	`TCTCAC/TCTTTC`	1	--	ut3¹ ese³		5		EA NS	1916
rs139576102^1,2		--	104237804(+)	`TAAAAC/TAGTCA`	1	--	ut3¹		0	--	--	--	--
rs114176844^1,2	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: --

SABiosciences Cancer Mutation PCR Assays

SeqTarget long-range PCR primers for resequencing TMEM246

DNA2.0 Custom Variant and Variant Library Synthesis for TMEM246

(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.)
About This Section

(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 TMEM246 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM246)

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

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)
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)
Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)¹ Wang J....Yang X. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)

(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: 84302	HGNC: 28180	AceView: C9orf125	Ensembl:ENSG00000165152	euGenes: HUgn84302
ECgene: TMEM246	H-InvDB: TMEM246

(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 TMEM246	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM246 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM246 gene:
Search GeneIP for patents involving TMEM246

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section


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Search LifeMap BioReagents cell lines for TMEM246

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM246

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ThermoFisher Antibodies for TMEM246

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM246

	inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM246
	inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM246

Customized:

	lentivirus for stable overexpression of TMEM246
	lentivirus expression plasmids for stable overexpression of TMEM246
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LSBio Antibodies in human, mouse, rat for TMEM246

Customized transgenic rodents for:

	Humanization
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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 TMEM246 gene at Home site.

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TMEM246 Gene

Transmembrane Protein 246

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TMEM246 Gene

Transmembrane Protein 246

Aliasesfor TMEM246 gene

Summariesfor TMEM246 gene

Genomic Viewsfor TMEM246 gene

Proteinsfor TMEM246 gene

Protein Domains /Familiesfor TMEM246 gene

Functionfor TMEM246 gene

Pathways & Interactionsfor TMEM246 gene

Drugs & Compoundsfor TMEM246 gene

Transcriptsfor TMEM246 gene

Expression for TMEM246 gene

Orthologsfor TMEM246 gene

Paralogsfor TMEM246 gene

Genomic Variantsfor TMEM246 gene

Disorders / Diseasesfor TMEM246 gene

Publicationsfor TMEM246 gene

External Searches for TMEM246 gene

Genome Databases showing TMEM246 gene

Other Databases showing TMEM246 gene

Specialized Databases showing TMEM246 gene

Intellectual Propertyfor TMEM246 gene

Productsfor TMEM246 gene

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Aliases
for TMEM246 gene

Summaries
for TMEM246 gene

Genomic Views
for TMEM246 gene

Proteins
for TMEM246 gene

Protein Domains /
Families
for TMEM246 gene

Function
for TMEM246 gene

Pathways & Interactions
for TMEM246 gene

Drugs & Compounds
for TMEM246 gene

Transcripts
for TMEM246 gene

Expression
for TMEM246 gene

Orthologs
for TMEM246 gene

Paralogs
for TMEM246 gene

Genomic Variants
for TMEM246 gene

Disorders / Diseases
for TMEM246 gene

Publications
for TMEM246 gene

Intellectual Property
for TMEM246 gene

Products
for TMEM246 gene