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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM44 Gene

protein-coding GIFtS: 45
GCID: GC03M194308

transmembrane protein 44

Search for TMEM44
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

Aliases
Transmembrane Protein 44¹ ²
DKFZp686O18124¹

External Ids:	HGNC: 25120¹	Entrez Gene: 93109²	Ensembl: ENSG00000145014⁷	UniProtKB: Q2T9K0³

Export aliases for TMEM44 gene to outside databases

Previous GC identifers: GC03M195790 GC03M191688

(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 TMEM44 gene promoter:
HOXA9B HOXA9 STAT1 STAT1beta CUTL1 LCR-F1 Nkx5-1 Meis-1b STAT1alpha Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM44 promoter sequence

Search SABiosciences Chromatin IP Primers for TMEM44

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM44

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

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

TMEM44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM44 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M194308: view genomic region (about GC identifiers)

Start:	194,308,402 bp from pter	End:	194,354,418 bp from pter
Size:	46,017 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: TMM44_HUMAN, Q2T9K0 (See protein sequence)

Recommended Name: Transmembrane protein 44

Size: 475 amino acids; 52201 Da

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

Sequence caution: Sequence=AAH34353.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAC86747.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;

Secondary accessions: A1L3V7 B7ZLZ6 C9JJ62 Q0P6F7 Q6ZT47 Q8IXR1 Q8N4G3

Alternative splicing: 4 isoforms: Q2T9K0-1 Q2T9K0-2 Q2T9K0-4 Q2T9K0-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM44: NX_Q2T9K0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q2T9K0

TMEM44 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001011655.1 NP_001159777.1 NP_001159778.1 NP_612408.3

ENSEMBL proteins:

ENSP00000376227 ENSP00000409963 ENSP00000333355 ENSP00000371402 ENSP00000418674

ENSP00000414333 ENSP00000403053 ENSP00000414077 ENSP00000328300 ENSP00000390186

ENSP00000273580

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	Uscn Proteins for TMEM44

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	--

TMEM44 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

ProtoNet protein and cluster: Q2T9K0

(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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In Situ Assay
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(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TMEM44

2 Interacting proteins for TMEM44 (Q2T9K0^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GSK3B	P49841²^,³	MINT-8257735 I2D: score=2
UBA5	Q9GZZ9³	I2D: score=1

About this table

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM44
Search CenterWatch for drugs/clinical trials and news about TMEM44 / TMM44

(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,
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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 TMEM44 gene (4 alternative transcripts):

NM_001011655.2 NM_001166305.1 NM_001166306.1 NM_138399.4

Unigene Cluster for TMEM44:

Transmembrane protein 44

Hs.478729 [show with all ESTs]

Unigene Representative Sequence: BC111485

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

ENST00000392432(uc010hzm.3 uc010hzn.3 uc003fuf.3 uc003fue.3)

ENST00000432352 ENST00000347147 ENST00000477651(uc003fuc.3) ENST00000381975

ENST00000476750 ENST00000473092 ENST00000452358 ENST00000429560 ENST00000419280(uc003fuh.1)

ENST00000467284 ENST00000494894 ENST00000330115 ENST00000430601 ENST00000273580(uc021xjc.1 uc011bsv.2)

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Additional cDNA sequence:

AK126914.1 AY303778.1 AY597813.1 BC007772.2 BC014883.1 BC034353.1 BC111485.1 BC130297.1

BC144158.1 BC144159.1 BX647418.1

7 DOTS entries:

DT.101982983 DT.100747851 DT.209346 DT.100747849 DT.101982982 DT.40287098 DT.91750570

24/98 AceView cDNA sequences (see all 98):

BU741011 CB054637 AA906860 NM_138399 CK429542 AA906438 BM992475 BC034353

AI221837 AA479347 CB528565 AA235297 BE906435 AI874209 BU191132 AI580808

AY597813 AW183815 BU521517 AW474715 AA890137 AI376563 AI399971 AI424632

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM44 (see all 7) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13	^	14	^	15a	·	15b
SP1:					-												-		-		-																-
SP2:																	-						-		-												-		-
SP3:																	-						-		-												-		-
SP4:																	-		-		-		-		-		-										-		-
SP5:																							-		-												-

ECgene alternative splicing isoforms for TMEM44

(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

TMEM44 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATGGGGCT

About this image

TMEM44 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

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TMEM44 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM44

SOURCE GeneReport for Unigene cluster: Hs.478729

SABiosciences Custom PCR Arrays for TMEM44

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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 chordates.

Orthologs for TMEM44 gene from 2/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem44^{1 , 5}	transmembrane protein 44^{1, 5}	81.61(n)¹ 78.64(a)¹		16 (21.34 cM)⁵ 224090¹ NM_172614.3¹ NP_766202.3¹ 30511855⁵
zebrafish (Danio rerio)	Actinopterygii	tmem44¹	transmembrane protein 44	47.24(n) 32.76(a)		751636 NM_001045355.1 NP_001038820.1

ENSEMBL Gene Tree for TMEM44 (if available)
TreeFam Gene Tree for TMEM44 (if available)

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

(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
				--	--	--		--	--
rs73890140^1,2	C,	--	191688065(+)	`AGCCAC/TGCTGC`	2	--	int¹		2		WA	120
rs78448125^1,2		--	191688143(+)	`AGCTGC/TGTCAC`	2	--	int¹		2		CSA WA	120
rs79537095^1,2	C,F,	--	191688287(+)	`ATTGAT/CTTAAA`	2	--	int¹		1		WA	118
rs73890141^1,2	C,F,	--	191688323(+)	`CACCTT/CAGCCC`	2	--	int¹		3		WA CSA	122
rs79228566^1,2		--	191688351(+)	`CCCTTA/GCTCAT`	2	--	int¹		0	--	--	--	--
rs7610069^1,2	C,F,A,H,	--	191688361(+)	`TCGCAG/CTATCA`	2	--	int¹ ese³		6		EA NS CSA WA	532
rs73195023^1,2	C,	--	191688647(+)	`GGTCTC/TGGTTC`	2	--	int¹		4		CSA WA NA	241
rs78250008^1,2		--	191688842(+)	`AGAGCG/AGGTCT`	2	--	int¹		3		CSA WA EA	240
rs9814348^1,2	C,A,	--	191688880(+)	`CAAAAG/ACTTCT`	2	--	int¹		1		NA	2
rs73195025^1,2	C,F,	--	191689018(+)	`TTGCCA/TGGGCA`	2	--	int¹		3		CSA WA	124

HapMap Linkage Disequilibrium report for TMEM44 (194308402 - 194354418 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for TMEM44
2 CNVs: 51068 51067
1 Indel: 68533

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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

TMEM44 for disorders About MalaCards

TMEM44 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: TMEM44 (2 documents)

Export disorders for TMEM44 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 TMEM44 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM44)

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

A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. (PubMed id 20031603)¹ Marroni F....Pramstaller P.P. (2009)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (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. (2002)
Expression of genes encoding multi-transmembrane prot eins in specific primate taste cell populations. (PubMed id 19997627)⁹ Moyer B.D....Zlotnik A. (2009)

(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: 93109	HGNC: 25120	AceView: LOC93109	Ensembl:ENSG00000145014	euGenes: HUgn93109
ECgene: TMEM44	H-InvDB: TMEM44

(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 TMEM44	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM44 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM44 gene:
Search GeneIP for patents involving TMEM44

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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	GenScript Custom Purified and Recombinant Proteins Services for TMEM44		GenScript cDNA clones with any tag delivered in your preferred vector for TMEM44
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM44

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 TMEM44 gene at Home site.

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TMEM44 Gene

transmembrane protein 44

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TMEM44 Gene

transmembrane protein 44

Aliasesfor TMEM44 gene

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for TMEM44 gene

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for TMEM44 gene

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for TMEM44 gene

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for TMEM44 gene

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