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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBC1D4 Gene

protein-coding GIFtS: 62
GCID: GC13M075858

TBC1 domain family, member 4

Explore 7 diseases affiliated with
TBC1D4 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
TBC1 Domain Family, Member 4¹ ²		DKFZp779C0666¹
AS160¹ ² ³ ⁵		Acrg Embryonic Lethality Minimal Region Ortholog²
KIAA0603¹ ³ ⁵		TBC (Tre-2, BUB2, CDC16) Domain-Containing Protein²
Akt Substrate Of 160 KDa² ³		TBC1 Domain Family Member 4²

External Ids:	HGNC: 19165¹	Entrez Gene: 9882²	Ensembl: ENSG00000136111⁷	OMIM: 612465⁵	UniProtKB: O60343³

Export aliases for TBC1D4 gene to outside databases

Previous GC identifers: GC13M073826 GC13M069854 GC13M074795 GC13M073657 GC13M074757 GC13M056556

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

UniProtKB/Swiss-Prot: TBCD4_HUMAN, O60343

Function: May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced

glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake

Gene Wiki entry for TBC1D4

(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_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBC1D4 gene promoter:
ER-alpha Tal-1 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2 E47 GATA-1 Sox9 ZIC2/Zic2 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBC1D4 promoter sequence

Search SABiosciences Chromatin IP Primers for TBC1D4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D4

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

Entrez Gene cytogenetic band: 13q22.2 Ensembl cytogenetic band: 13q22.2 HGNC cytogenetic band: 13q22.2

TBC1D4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D4 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M075858: view genomic region (about GC identifiers)

Start:	75,858,808 bp from pter	End:	76,056,250 bp from pter
Size:	197,443 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: TBCD4_HUMAN, O60343 (See protein sequence)

Recommended Name: TBC1 domain family member 4

Size: 1298 amino acids; 146563 Da

Subcellular location: Cytoplasm. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line

in resting and insulin-stimulated cells

Sequence caution: Sequence=BAA25529.2; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for TBC1D4:

3QYB (3D)

Secondary accessions: A7E2X8 B4DU25 B4E235 B6ETN8 B6ETN9 Q5W0B9 Q68D14

Alternative splicing: 5 isoforms: O60343-1 O60343-2 O60343-3 O60343-4 O60343-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D4: NX_O60343

Post-translational modifications:

Phosphorylated by AKT1; insulin-induced. Also phosphorylated by AMPK in response to insulin. Insulin-stimulated

phosphorylation is required for SLC2A4/GLUT4 translocation. Has no effect on SLC2A4/GLUT4 internalization.

Physiological hyperinsulinemia increases phosphorylation in skeletal muscle. Insulin-stimulated phosphorylation is

reduced by 39% in type 2 diabetic patients¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60343

TBC1D4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055647.2

ENSEMBL proteins:

ENSP00000366863 ENSP00000396932 ENSP00000395986 ENSP00000366852 ENSP00000390654

Reactome Protein details: O60343
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TBC1D4

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:0005737	cytoplasm	IEA	--

TBC1D4 for ontologies About GeneDecksing

TBC1D4 Antibody Products:

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	Uscn ELISAs and CLIAs for TBC1D4

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

TBC1D4 for domains About GeneDecksing

4 InterPro domains/families:

IPR021785 DUF3350

IPR000195 Rab-GTPase-TBC_dom

IPR006020 PTyr_interaction_dom

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry O60343

ProtoNet protein and cluster: O60343

3 Blocks protein families:

IPB000195 RabGAP/TBC domain

IPB006020 Phosphotyrosine interaction domain

IPB011072 Protein kinase PKN/PRK1

UniProtKB/Swiss-Prot: TBCD4_HUMAN, O60343

Similarity: Contains 2 PID domains

Similarity: Contains 1 Rab-GAP TBC 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: TBCD4_HUMAN, O60343

Function: May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced

glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake

miRNA Products:		OriGene 3'-UTR Clone: TBC1D4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBC1D4
		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate TBC1D4 (see all 45):
		hsa-miR-579 hsa-miR-3146 hsa-miR-300 hsa-miR-199a-3p hsa-miR-3167 hsa-miR-223 hsa-miR-9 hsa-miR-2116

		SwitchGear 3'UTR luciferase reporter plasmid: TBC1D4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBC1D4 (see all 4) OriGene shRNA RFP: TBC1D4 OriGene siRNA: TBC1D4
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TBC1D4

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TBC1D4
		Search LifeMap BioReagents cell lines for TBC1D4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D4

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005097	Rab GTPase activator activity	IEA	--

TBC1D4 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TBC1D4:

Increased homologous recombina

Animal Models:
Mouse knock-out Tbc1d4^tm1Lex for TBC1D4
10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tbc1d4):

adipose tissue	cardiovascular system	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	mortality/aging	muscle	reproductive system

TBC1D4 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

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Membrane Trafficking

Membrane Trafficking

1.00

Translocation of GLUT4 to the Plasma Membrane

0.32

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Insulin Signaling

Insulin Signaling

1.00

Class I PI3K signaling events mediated by Akt

Class I PI3K signaling events mediated by Akt

1.00

Insulin-mediated glucose transport

Insulin-mediated glucose transport

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for TBC1D4

Glucose / Energy Metabolism

3 BioSystems Pathways for TBC1D4

	Insulin Signaling
	Class I PI3K signaling events mediated by Akt
	Insulin-mediated glucose transport

3 Reactome Pathways for TBC1D4

	Membrane Trafficking
	Translocation of GLUT4 to the Plasma Membrane
	AKT1/2 Phosphorylates AS160 (TBC1D4)

TBC1D4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TBC1D4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/35 Interacting proteins for TBC1D4 (O60343^{2, 3} ENSP00000366863⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-3319865 I2D: score=2 STRING: ENSP00000309503
TOPBP1	Q92547³, ENSP00000260810⁴	I2D: score=3 STRING: ENSP00000260810
ZMIZ1	Q9ULJ6³, ENSP00000334474⁴	I2D: score=3 STRING: ENSP00000334474
EP400	Q96L91³, ENSP00000374213⁴	I2D: score=2 STRING: ENSP00000374213
NFAT5	O94916³, ENSP00000396538⁴	I2D: score=2 STRING: ENSP00000396538

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016192	vesicle-mediated transport	IMP	--
GO:0032869	cellular response to insulin stimulus	IMP	--

TBC1D4 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

TBC1D4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TBC1D4
2 Novoseek chemical compound relationships for TBC1D4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphatidylinositol	58.2	5	17513702 (2), 18276765 (1), 17284447 (1)
glucose	55.7	13	18276765 (4), 15919790 (1), 17019595 (1), 17617058 (1) (see all 9)

Search CenterWatch for drugs/clinical trials and news about TBC1D4 / TBCD4

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 TBC1D4 gene:

NM_014832.2

Unigene Cluster for TBC1D4:

TBC1 domain family, member 4

Hs.210891 [show with all ESTs]

Unigene Representative Sequence: NM_014832

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

ENST00000377636(uc001vjl.1) ENST00000478591 ENST00000493487 ENST00000413735

ENST00000488955 ENST00000431480(uc010aer.2) ENST00000377625(uc010tht.1 uc010thu.1 uc010aes.2)

ENST00000425511

miRNA Products:		OriGene 3'-UTR Clone: TBC1D4 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBC1D4
		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate TBC1D4 (see all 45):
		hsa-miR-579 hsa-miR-3146 hsa-miR-300 hsa-miR-199a-3p hsa-miR-3167 hsa-miR-223 hsa-miR-9 hsa-miR-2116

		SwitchGear 3'UTR luciferase reporter plasmid: TBC1D4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AB011175.1 AB449885.1 AK300468.1 AK304091.1 AK307493.1 AY211910.1 BC151239.1 CR749622.1

FM207106.1 FM207107.1

11 DOTS entries:

DT.75158750 DT.120791165 DT.97765110 DT.95255407 DT.100788997 DT.40228855 DT.100788995 DT.120791175

DT.120791147 DT.120791150 DT.100788993

24/171 AceView cDNA sequences (see all 171):

AL695196 CA432379 BQ632337 AI422530 BG617618 AA132263 AB011175 CF242947

BG576192 BM714236 AI475997 CA388917 AA737494 BX394086 AA948362 AI148129

AI923718 AA905267 BM543202 BI906891 AW731708 AI146344 AW512006 AA400732

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D4 (see all 11) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13a	·	13b	^	14	^	15	^	16	^	17a	·	17b	^	18a	·	18b	·	18c	^	19a	·
SP1:					-		-																						-										-				-		-
SP2:
SP3:																													-						-		-		-				-		-
SP4:																																			-		-		-				-		-
SP5:																													-						-		-		-

ExUns:	19b	^	20	^	21	^	22	^	23	^	24	^	25a	·	25b	^	26
SP1:			-
SP2:			-						-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for TBC1D4

(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

TBC1D4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATCGTTACA

About this image

TBC1D4 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Early Gonad

Testis Somatic Cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TBC1D4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D4

SOURCE GeneReport for Unigene cluster: Hs.210891

UniProtKB/Swiss-Prot: TBCD4_HUMAN, O60343

Tissue specificity: Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly

expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is

strongly expressed in adrenal and thyroid gland, and also in lung, kidney, colon, brain and adipose tissue. Isoform 2

is moderately expressed in skeletal muscle. Expressed in pancreatic Langerhans islets, including beta cells (at

protein level). Expression is decreased by twofold in pancreatic islets in type 2 diabetes patients compared to

control subjects. Up-regulated in T-cells from patients with atopic dermatitis

SABiosciences Custom PCR Arrays for TBC1D4

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D4

(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 TBC1D4 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TBC1D4¹	TBC1 domain family, member 4	75.82(n) 80.09(a)		428062 XM_003640553.1 XP_003640601.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	84(a) 75(a)	1 ↔ many 1 ↔ many	3(87467827-87490799) 3(87380426-87457971)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.19119²	Transcribed sequence with moderate similarity to protein more	76.54(n)		AL885266.2
zebrafish (Danio rerio)	Actinopterygii	si:ch211-222g23.4¹	si:ch211-222g23.4	64.56(n) 66.04(a)		321065 XM_002663395.1 XP_002663441.1
fruit fly (Drosophila melanogaster)	Insecta	plx⁶	pollux	22(a)	possible ortholog	3R(1511854-1538559)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G02460⁶ PAM1⁶	plant adhesion molecule 1	29(a) 28(a)	possible ortholog possible ortholog	3(505434-508428) 5(5199711-5202452)
rice (Oryza sativa)	Liliopsida	--	TBC domain containing protein, expressed	29(a)	possible ortholog	8(19736918-19741786)

ENSEMBL Gene Tree for TBC1D4 (if available)
TreeFam Gene Tree for TBC1D4 (if available)

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

Paralogs for TBC1D4 gene

RABGAP1L² TBC1D12² TBC1D14² TBC1D1² EVI5² EVI5L² RABGAP1²

1 SIMAP similar gene for TBC1D4 using alignment to 2 protein entries: TBCD4_HUMAN (see all proteins):

TBC1D1

TBC1D4 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 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs183705628^1,2		--	75858325(+)	`GTTTCA/GTGGAA`	1	--	ds500¹		0	--	--	--	--
rs524230^1,2	C,F,	--	75858506(-)	`ggatcG/Ctctag`	1	--	ds500¹		8		NA WA CSA	249
rs145187989^1,2		--	75858684(+)	`TGCTCA/GCATGC`	1	--	ds500¹		0	--	--	--	--
rs116615969^1,2	F,	--	75858694(+)	`CCCACC/TACTGC`	1	--	ds500¹		1		WA	118
rs139004273^1,2		--	75858802(+)	`GTATAC/TGTCAA`	1	--	ds500¹		0	--	--	--	--
rs75054979^1,2	C,F,	--	75858803(+)	`TATACG/ATCAAG`	1	--	ds500¹		1		EA	120
rs1058845^1,2	C,F,	--	75858873(-)	`GCATCG/ATNNNN`	1	--	ut3¹		1		NA	120
rs141538982^1,2		--	75858874(+)	`GTAACA/GATGCA`	1	--	ut3¹		0	--	--	--	--
rs187788782^1,2		--	75858884(+)	`ATGAAA/GCATAA`	1	--	ut3¹		0	--	--	--	--
rs11566^1,2	C,F,A,H,	--	75859067(+)	`TTTCCG/AAACTT`	1	--	ut3¹		18		MN NS EA NA WA CSA	2124

HapMap Linkage Disequilibrium report for TBC1D4 (75858808 - 76056250 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TBC1D4
1 CNV: 39140
Human Gene Mutation Database (HGMD): TBC1D4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TBC1D4 for disorders           About GeneDecksing

OMIM gene information: 612465    OMIM disorders: --

7 diseases for TBC1D4:    About MalaCards

polycystic ovary syndrome atopic dermatitis insulin resistance dermatitis

sarcoma thyroiditis pancreatitis

1 Novoseek disease relationship for TBC1D4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperinsulinemia	49.7	4	15919790 (3), 17513702 (1)

Human Genome Epidemiology (HuGE) Navigator: TBC1D4 (1 document)

Export disorders for TBC1D4 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)
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PubMed articles for TBC1D4 gene, integrated from 9 sources (see all 76):
(articles sorted by number of sources associating them with TBC1D4)

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Upregulation of the transcript level of GTPase activating protein KIAA0603 in T cells from patients with atopic dermatitis. (PubMed id 15304337)^{1, 2, 3, 9} Matsumoto Y.... Oshida T. (2004)
A method to identify serine kinase substrates. Akt phosphorylates a novel adipocyte protein with a Rab GTPase-activating protein (GAP) domain. (PubMed id 11994271)^{1, 2, 3} Kane S....Lienhard G.E. (2002)
Insulin-stimulated phosphorylation of the Akt substrate AS160 is impaired in skeletal muscle of type 2 diabetic subjects. (PubMed id 15919790)^{1, 2, 9} Karlsson H.K.R....Wallberg-Henriksson H. (2005)
Rab GTPase-activating protein AS160 is a major downstream effector of protein kinase B/Akt signaling in pancreatic beta-cells. (PubMed id 18276765)^{1, 2, 9} Bouzakri K....Halban P.A. (2008)
Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)^{1, 2, 9} Ishibashi K.... Fukuda M. (2009)
Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase- activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation. (PubMed id 21454505)^{1, 2} Park S.Y.... Shoelson S.E. (2011)
Identification of a novel AS160 splice variant that regulates GLUT4 translocation and glucose-uptake in rat muscle cells. (PubMed id 18771725)^{1, 2} Baus D....Tennagels N. (2008)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
AS160, the Akt substrate regulating GLUT4 translocation, has a functional Rab GTPase-activating protein domain. (PubMed id 15971998)^{1, 2} Miinea C.P....Lienhard G.E. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9882	HGNC: 19165	AceView: TBC1D4	Ensembl:ENSG00000136111	euGenes: HUgn9882
ECgene: TBC1D4	H-InvDB: TBC1D4

(According to HUGE)
About This Section

HUGE: KIAA0603

(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 TBC1D4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBC1D4 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 TBC1D4 gene:
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TBC1 domain family, member 4

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TBC1 domain family, member 4

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