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RAB40A Gene

protein-coding GIFtS: 50

GC0XM102560

RAB40A, member RAS oncogene family
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
MGC142061 ^²
OTTHUMP00000023745 ^²
OTTHUMP00000023746 ^²
RAR2A ^¹, ²
Rar-2 ^¹, ²

Descriptions
Protein Rar-2 ^³
RAB40A, member RAS oncogene family ^²
SOCS box containing protein RAR2A ^²
SOCS box-containing protein RAR2A ^³

External Ids
HGNC: 18283¹
Entrez Gene: 142684²
UniProtKB: Q8WXH6³
Ensembl: ENSG00000172476⁷

Search outside databases for aliases for RAB40A gene

Previous GC identifers: GC0XM098056 GC0XM099663 GC0XM100787 GC0XM101526

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6

Function: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box

protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal

degradation of target proteins (By similarity)

Gene Wiki entry for RAB40A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the RAB40A gene

Entrez Gene cytogenetic band: Xq22.1 Ensembl cytogenetic band: Xq22.2 HGNC cytogenetic band: Xq22.1

RAB40A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM102560: (about GC identifiers)

Start:	102,641,334 bp from pter
End:	102,661,073 bp from pter
Size:	19,740 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011651.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6 (See protein sequence)

Recommended Name: Ras-related protein Rab-40A

Size: 277 amino acids; 31076 Da

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)

Secondary accessions: O00407 Q17RQ5 Q6DK06 Q8TF06

REFSEQ proteins: NP_543155.2

ENSEMBL proteins:

ENSP00000361716 ENSP00000305648

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (RAB40A)
	Human Recombinant Proteins from Abnova (RAB40A)

OriGene Purified Recombinant Human Protein: RAB40A

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--

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Antibodies for RAB40A:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for RAB40A
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (RAB40A), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (RAB40A)
	Novus Biologicals Antibodies for RAB40A

Assays for RAB40A:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q8WXH6

ProtoNet protein and cluster: Q8WXH6

2 Blocks protein families:

IPB001496 SOCS protein

IPB001806 Transforming protein P21 RAS signature

UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6

Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module

in different E3 ubiquitin ligase complexes (By similarity)

Similarity: Belongs to the small GTPase superfamily. Rab family

Similarity: Contains 1 SOCS box domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RAB40A)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_080879

Applied Biosystems Silencer® siRNAs for RAB40A

Sigma-Aldrich siRNA and siRNA Panels for RAB40A

Sigma-Aldrich shRNA for RAB40A

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for RAB40A
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_080879
Myc/DDK tagged cDNA clone in CMV expression vector: NM_080879
untagged cDNA clone in CMV expression vector: NM_080879

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_080879

UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6

Function: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box

protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal

degradation of target proteins (By similarity)

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005525	GTP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6

Pathway: Protein modification; protein ubiquitination

3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007264	small GTPase mediated signal transduction	IEA	--
GO:0015031	protein transport	IEA	--
GO:0019941	modification-dependent protein catabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for RAB40A

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for RAB40A

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RAB40A)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_080879

Sigma-Aldrich siRNA and siRNA Panels for RAB40A

Sigma-Aldrich shRNA for RAB40A

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_080879

REFSEQ mRNAs for RAB40A gene:

NM_080879.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_080879

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_080879
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_080879
                                 untagged cDNA clone in CMV expression vector: NM_080879

Additional cDNA sequence:

AF132748.1 AF422143.1 BC045674.1

6 DOTS entries:

DT.441188 DT.97836075 DT.404373 DT.101969771 DT.100700779 DT.100699740

15 AceView cDNA sequences:

BC074855 AF132748 BC074854 AK056859 Z43570 NM_080879 Z39635 H24206

CF264884 H24205 AW300309 BC045674 AF422143 BI562054 R48513

highest scoring ESTs for RAB40A:

AF422143 AF132748 AK056859 AW300309 BC045674 BF949266 CF264884 H24205 H24206 NM_080879

Unigene Clusters for RAB40A:

RAB40A, member RAS oncogene family

Hs.27453 [show with all ESTs], Hs.706904 [show with all ESTs]

Unigene Representative Sequences: AK056859, BC045674

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000372633 ENST00000304236

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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RAB40A expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for RAB40A

¹ / ² / ³

7 probe-sets matching RAB40A gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
33477_at²^{, 3}	U95-A	3	1.00	0.66	0.68	0.77	Z95624	0.20	0.33	0.27	1
108_g_at²^{, 3}	U95-A	4	0.94	0.29	0.74	1.49	Z95624	0.20	0.33	0.27	1
107_at²^{, 3}	U95-A	2	0.81	0.41	-0.04	0.83	Z95624	0.20	0.33	0.27	1
217589_at²^{, 3}	U133-A	2	1.00	0.91	--	--	AW300309	0.60	1.00	0.82	1
215782_at²^{, 3}	U133-A	3	0.82	0.39	--	--	Z95624	0.20	0.33	0.27	1
217589_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--
215782_at²	U133Plus2	3	0.82	0.39	--	--	--	--	--	--	--

GeneDecks RAB40A for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
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CGAP SAGE TAG: --

SOURCE GeneReport for Unigene clusters: Hs.27453 Hs.706904
Expression variation in blood from EXPOLDB for RAB40A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for RAB40A gene from 2 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	RAB40A¹	--	RAB40A, member RAS oncogene family	99.04(n) 99.28(a)	736977 XM_001137292.1 XP_001137292.1
fruit fly (Drosophila melanogaster)	CG1900³	11A11	RAB small monomeric GTPase	58(a)	--

About this table Species with no ortholog for RAB40A

ENSEMBL Gene Tree for RAB40A

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

Paralogs for RAB40A gene

RAB40C² RAB40B² RAB40AL²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/62 NCBI SNPs in RAB40A are shown (see all 62 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 32)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1180895^1,2	A,C,F,H	102642207(+)	`CGAGAT/AGGCTG`	1	L/H	mis¹ ese³		6	NA EA WA	550
	rs1180888^1,2	A,C,F,H,O	102657057(+)	`TTTGAG/CGAAGG`	1	--	int¹ trp³		13	NA EA EU WA	1062
	rs17285130^1,2	C,F,H	102656602(+)	`GTTATT/CAAATG`	1	--	int¹		15	NA EU EA WA	952
	rs12171775^1,2	C,F,H	102660113(+)	`ctatcA/Gtgcca`	1	--	int¹		4	EU EA WA	420
	rs10521501^1,2	C,F,H	102644888(+)	`GTGTCC/TATAGG`	1	--	int¹		9	NS EU EA WA	508
	rs5945785^1,2	C,F,H	102658263(+)	`TAGCCA/CGCAAT`	1	--	int¹		11	EU EA WA NA	768
	rs17340328^1,2	C,F,H	102656518(+)	`GTATGT/CATGCA`	1	--	int¹		7	NA EU EA WA	490
	rs7891217^1,2	C,F,H	102644130(+)	`GGTCCC/AACACC`	1	--	int¹		7	EU EA WA NA	526
	rs16983958^1,2	C,F,H	102653732(+)	`AGTTCG/AATGTT`	1	--	int¹		11	NA EU EA WA	770
	rs7061268^1,2	F,H	102650491(+)	`TGGACA/GTATCC`	1	--	int¹		4	EU EA WA	418

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HapMap Linkage Disequilibrium images for RAB40A (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/11 PubMed articles for RAB40A gene (see all 11 ):

Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. (PubMed id 16923123)^{3, 4} Itoh T.... Fukuda M. (2006)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{3, 4} Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Evolution of the Rab family of small GTP-binding proteins. (PubMed id 11697911)^{2, 3} Pereira-Leal J.B. and Seabra M.C. (2001)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)³ Ota T....Sugano S. (2004)
Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PubMed id 12578829)³ Fukuda M. (2003)
Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. (PubMed id 11856727)³ Fukuda M.... Mikoshiba K. (2002)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. (PubMed id 11773082)³ Kuroda T.S....Mikoshiba K. (2002)
The SOCS box: a tale of destruction and degradation. (PubMed id 12076535)³ Kile B.T....Hilton D.J. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
About This Section

Entrez Gene: 142684	HGNC: 18283	AceView: RAB40A	Ensembl:ENSG00000172476	euGenes: HUgn142684
ECgene: RAB40A	H-InvDB: RAB40A

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for RAB40A	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for RAB40A
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for RAB40A:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for RAB40A-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for RAB40A		Antibodies for RAB40A
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for RAB40A		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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	Tagged/untagged cDNA clones
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	shRNA in GFP-retroviral vector

Search Tocris compounds for RAB40A

	Drugs for RAB40A
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

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RAB40A Gene

protein-coding GIFtS: 50

Aliases &
Descriptions
for RAB40A

Summaries
for RAB40A

Genomic Location
for RAB40A

Proteins
for RAB40A

Protein Domains/
Families
for RAB40A

Gene Function
for RAB40A

Pathways & Interactions
for RAB40A

Drugs & Compounds
for RAB40A

Transcripts
for RAB40A

Expression
for RAB40A

Orthologs
for RAB40A

Paralogs
for RAB40A

SNPs/Variants
for RAB40A

Disorders & Mutations
for RAB40A

Medical News
for RAB40A

Publications
for RAB40A

Search for RAB40A

Genome Databases showing RAB40A

Other Databases showing RAB40A

Specialized Databases showing RAB40A

Licensable Technologies
for RAB40A

Services
for RAB40A

Gene Index: 3 5 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

RAB40A Gene

protein-coding GIFtS: 50

Aliases & Descriptionsfor RAB40A

Summariesfor RAB40A

Genomic Locationfor RAB40A

Proteinsfor RAB40A

Protein Domains/Familiesfor RAB40A

Gene Functionfor RAB40A

Pathways & Interactionsfor RAB40A

Drugs & Compoundsfor RAB40A

Transcriptsfor RAB40A

Expression for RAB40A

Orthologsfor RAB40A

Paralogsfor RAB40A

SNPs/Variantsfor RAB40A

Disorders & Mutationsfor RAB40A

Medical Newsfor RAB40A

Publicationsfor RAB40A

Search for RAB40A

Genome Databases showing RAB40A

Other Databases showing RAB40A

Specialized Databases showing RAB40A

Licensable Technologiesfor RAB40A

Servicesfor RAB40A

Gene Index: 3 5 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

Aliases &
Descriptions
for RAB40A

Summaries
for RAB40A

Genomic Location
for RAB40A

Proteins
for RAB40A

Protein Domains/
Families
for RAB40A

Gene Function
for RAB40A

Pathways & Interactions
for RAB40A

Drugs & Compounds
for RAB40A

Transcripts
for RAB40A

Expression
for RAB40A

Orthologs
for RAB40A

Paralogs
for RAB40A

SNPs/Variants
for RAB40A

Disorders & Mutations
for RAB40A

Medical News
for RAB40A

Publications
for RAB40A

Licensable Technologies
for RAB40A

Services
for RAB40A