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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TOM1L2 Gene

protein-coding GIFtS: 50
GCID: GC17M017746

target of myb1-like 2 (chicken)

(Previous name: target of myb1 (chicken) homolog-like 1 )

Explore 3 diseases affiliated with
TOM1L2 via

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
Target Of Myb1-Like 2 (Chicken)¹ ²
Target Of Myb-Like Protein 2² ³
Target Of Myb1 (Chicken) Homolog-Like 1¹
TOM1-Like Protein 2²

External Ids:	HGNC: 11984¹	Entrez Gene: 146691²	Ensembl: ENSG00000175662⁷	UniProtKB: Q6ZVM7³

Export aliases for TOM1L2 gene to outside databases

Previous GC identifers: GC17U990153 GC17M017693 GC17M017950 GC17M017691 GC17M017688 GC17M017500

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

UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7

Function: Probable role in protein transport. May regulate growth factor-induced mitogenic signaling

Gene Wiki entry for TOM1L2

(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_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TOM1L2 gene promoter:
SRF HOXA9 AML1a p53 SRF (504 AA) LUN-1 Nkx2-5 Evi-1 Arnt CP2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TOM1L2 promoter sequence

Search SABiosciences Chromatin IP Primers for TOM1L2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOM1L2

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

Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2

TOM1L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOM1L2 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M017746: view genomic region (about GC identifiers)

Start:	17,746,822 bp from pter	End:	17,875,784 bp from pter
Size:	128,963 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: TM1L2_HUMAN, Q6ZVM7 (See protein sequence)

Recommended Name: TOM1-like protein 2

Size: 507 amino acids; 55556 Da

Subunit: Interacts with clathrin, SRC and TOLLIP

Sequence caution: Sequence=AAL78338.1; Type=Frameshift; Positions=101, 121, 170;

Secondary accessions: B7Z7F4 Q86V61 Q8TDE7 Q96M88

Alternative splicing: 4 isoforms: Q6ZVM7-1 Q6ZVM7-2 Q6ZVM7-3 Q6ZVM7-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TOM1L2: NX_Q6ZVM7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6ZVM7

TOM1L2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001028723.1 NP_001076437.1

ENSEMBL proteins:

ENSP00000464297 ENSP00000463313 ENSP00000368818 ENSP00000312860 ENSP00000379088

ENSP00000438621 ENSP00000437655 ENSP00000445188 ENSP00000465677 ENSP00000466863

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	Uscn Proteins for TOM1L2

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:0005622	intracellular	IEA	--

TOM1L2 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

TOM1L2 for domains About GeneDecksing

5 InterPro domains/families:

IPR002014 VHS

IPR004152 GAT

IPR018205 VHS_subgr

IPR008942 ENTH_VHS

IPR014645 TOM1

Graphical View of Domain Structure for InterPro Entry Q6ZVM7

ProtoNet protein and cluster: Q6ZVM7

2 Blocks protein families:

IPB002014 VHS

IPB004152 GAT domain

UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7

Domain: The GAT domain mediates interaction with TOLLIP

Similarity: Belongs to the TOM1 family

Similarity: Contains 1 GAT domain

Similarity: Contains 1 VHS domain

(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

Function Summary:

UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7

Function: Probable role in protein transport. May regulate growth factor-induced mitogenic signaling

Genatlas biochemistry entry for TOM1L2:

v-Myb target gene-like 2,retroviral oncogene,involved in transformation of myelomonoctic cells,in the Smith-Magenis

critical region

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In Situ Assay
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Animal Models:
15 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tom1l2):

adipose tissue	behavior/neurological	cardiovascular system	craniofacial	endocrine/exocrine gland
hematopoietic system	immune system	integument	nervous system	renal/urinary system
reproductive system	respiratory system	skeleton	tumorigenesis	vision/eye

TOM1L2 for phenotypes About GeneDecksing

(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:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TOM1L2

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/7 Interacting proteins for TOM1L2 (Q6ZVM7³ ENSP00000368818⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TOLLIP	Q9H0E2³, ENSP00000314733⁴	I2D: score=3 STRING: ENSP00000314733
LAPTM5	Q13571³	I2D: score=3
RNF11	Q9Y3C5³	I2D: score=3
EGFR	P00533³	I2D: score=1
CLTC	ENSP00000269122⁴	STRING: ENSP00000269122

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006886	intracellular protein transport	IEA	--

TOM1L2 for ontologies About GeneDecksing

(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 TOM1L2
Search CenterWatch for drugs/clinical trials and news about TOM1L2 / TM1L2

(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,
RNAi Products from EMD Millipore,
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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 TOM1L2 gene (3 alternative transcripts):

NM_144678.3 NM_001033551.2 NM_001082968.1

Unigene Cluster for TOM1L2:

Target of myb1-like 2 (chicken)

Hs.462379 [show with all ESTs]

Unigene Representative Sequence: NM_001082968

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

ENST00000581396(uc002grv.4 uc002grz.4 uc002gry.4 uc010vwy.2 uc010cpr.3 uc010vwz.2 uc010vxa.2)

ENST00000478943 ENST00000379504 ENST00000318094 ENST00000577794 ENST00000395739

ENST00000535933 ENST00000540946 ENST00000486413 ENST00000542206 ENST00000468944

ENST00000577517 ENST00000537091(uc010vxb.2) ENST00000579586

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Additional cDNA sequence:

AF038192.1 AK055959.1 AK057308.1 AK124331.1 AK294846.1 AK295111.1 AK299872.1 AK301944.1

AK303305.1 AL133641.1 AY358769.1 BC051650.1

17 DOTS entries:

DT.214806 DT.40317395 DT.101978294 DT.40206939 DT.100791262 DT.120893433 DT.91759435 DT.120893408

DT.91893600 DT.97771130 DT.99971568 DT.100791264 DT.120893367 DT.40268049 DT.75138915 DT.91893536

DT.91996847

24/181 AceView cDNA sequences (see all 181):

AA399639 CA388796 CD672488 BU729407 AI191415 BQ669270 N54155 AI423798

AI874411 F11076 Z39006 AL699152 AI079971 AK057308 BF589523 BM703482

T72258 BF436829 AI222548 BX093118 BE464966 BQ670241 BG152505 CB321625

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™, 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

TOM1L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAAATACTC

About this image
See TOM1L2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TOM1L2

SOURCE GeneReport for Unigene cluster: Hs.462379

UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7

Tissue specificity: Ubiquitously expressed with higher expression in heart and skeletal muscle

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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 eukaryotes.

Orthologs for TOM1L2 gene from 8/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TOM1L2¹	target of myb1-like 2 (chicken)	79.68(n) 92.11(a)		416509 XM_414813.3 XP_414813.2
lizard (Anolis carolinensis)	Reptilia	-- --	--	85(a) 68(a)	1 ↔ many 1 ↔ many	AAWZ02037398(3786-12718) GL343977.1(76114-118072)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1482²	Xenopus laevis transcribed sequence with weak similarity more	77(n)		BJ072276.1
zebrafish (Danio rerio)	Actinopterygii	LOC100535615¹	TOM1-like protein 2-like	70.78(n) 76.74(a)		100535615 XM_003198201.1 XP_003198249.1
fruit fly (Drosophila melanogaster)	Insecta	CG3529¹	CG3529	53.17(n) 48.18(a)		39093 NM_140058.2 NP_648315.1
worm (Caenorhabditis elegans)	Secernentea	C07A12.7⁶	Protein C07A12.7, isoform c	42(a)	1 → many	X(4517715-4521041)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G16880⁶ AT1G76970⁶ (see all 9)	Target of Myb protein 1 (see all 9)	19(a) 19(a) (see all 9)	many ↔ many many ↔ many (see all 9)	5(5548914-5551463) 1(28922666-28925404)
rice (Oryza sativa)	Liliopsida	-- -- (see all 10)	VHS and GAT domain containing protein, expressed (see all 10)	20(a) 19(a) (see all 10)	many ↔ many many ↔ many (see all 10)	2(28667133-28671003) 10(22980611-22983543)

ENSEMBL Gene Tree for TOM1L2 (if available)
TreeFam Gene Tree for TOM1L2 (if available)

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

Paralogs for TOM1L2 gene

GGA2² TOM1L1² TOM1² GGA1² GGA3²

4 SIMAP similar genes for TOM1L2 using alignment to 6 protein entries: TM1L2_HUMAN (see all proteins):

TOM1 GGA3 TOM1L1 GGA1

TOM1L2 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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs5819629^1,2	C	--	17513020(+)	`TAAAG-/AAAAAA`	1	--	int¹ trp³		1		CSA	2
rs8066353^1,2	C,	--	17515250(+)	`TTACAA/TAAGCA`	1	--	ds500¹		3		NA WA	122
rs56698800^1,2		--	17515400(+)	`TGTTGC/TCCGGA`	1	--	nc-transcript-variant		2		CSA WA	120
rs72838921^1,2		--	17515468(+)	`TAGAAC/TGACTT`	1	--	nc-transcript-variant		0	--	--	--	--
rs58219643^1,2	C,	--	17515536(+)	`GGTGCG/AATCTC`	1	--	nc-transcript-variant		1		WA	2
rs59445408^1,2		--	17515671(+)	`GTCTAG/ACTCTG`	1	--	nc-transcript-variant		1		CSA	2
rs117279893^1,2	C,F,	--	17516478(+)	`TTTTCA/TTTTCG`	1	--	nc-transcript-variant		1		EA	120
rs77897450^1,2	F,	--	17519408(+)	`AAGGAA/GTGGGT`	1	--	us2k¹		1		EA	120
rs11334951^1,2	C	--	17520620(+)	`TAGAC-/TTTTTT`	1	--	int¹ trp³		1		NA	2
rs11652883^1,2	C,F,H	--	17746649(+)	`ACAACC/ATGGGC`	2	--	int¹		5		NS EA NA	404

HapMap Linkage Disequilibrium report for TOM1L2 (17746822 - 17875784 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for TOM1L2
     3 CNVs: 77536 77537 77535
     2 Indels: 88367 77538
     1 Inversion: 0495

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOM1L2

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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

TOM1L2 for disorders About GeneDecksing

3 diseases for TOM1L2: About MalaCards

smith-magenis syndrome medulloblastoma dementia

Human Genome Epidemiology (HuGE) Navigator: TOM1L2 (1 document)

Export disorders for TOM1L2 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 TOM1L2 gene, integrated from 9 sources (see all 29):
(articles sorted by number of sources associating them with TOM1L2)

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

The adaptor protein Tom1L1 is a negative regulator of Src mitogenic signaling induced by growth factors. (PubMed id 16479011)^{1, 2} Franco M.... Roche S. (2006)
Recruitment of clathrin onto endosomes by the Tom1-Tollip complex. (PubMed id 16412388)^{1, 2} Katoh Y.... Nakayama K. (2006)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PubMed id 11997338)^{1, 2} Bi W....Lupski J.R. (2002)
Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (PubMed id 10036180)^{1, 3} Seranski P....Poustka A. (1999)
Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)¹ Oshikawa K....Nakayama K.I. (2012)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 146691	HGNC: 11984	AceView: TOM1L2	Ensembl:ENSG00000175662	euGenes: HUgn146691
ECgene: TOM1L2	H-InvDB: TOM1L2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TOM1L2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TOM1L2 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 TOM1L2 gene:
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GeneCards and IP:
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