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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RAB23 Gene

protein-coding GIFtS: 62
GCID: GC06M057100

RAB23, Member RAS Oncogene Family

11 related diseases
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
RAB23, Member RAS Oncogene Family¹ ²
HSPC137²
RAB Family Small GTP Binding Protein RAB 23²
Ras-Related Protein Rab-23²

External Ids:	HGNC: 14263¹	Entrez Gene: 51715²	Ensembl: ENSG00000112210⁷	OMIM: 606144⁵	UniProtKB: Q9ULC3³

Export aliases for RAB23 gene to outside databases

Previous GC identifers: GC06M057055 GC06M057161 GC06M056887

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

Entrez Gene summary for RAB23 Gene:

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse

cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to

bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing

sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer.

Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for RAB23 Gene:

RAB23 (RAB23, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB23 include carpenter syndrome, and beare-stevenson cutis gyrata syndrome, and among its related super-pathways are Basal cell carcinoma and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAN.

UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3

Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of

transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active

GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible

for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and

thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise,

regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in

autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture

by autophagosomes that then merge with lysosomes

Gene Wiki entry for RAB23 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_000006.11 NT_007592.15 NC_018917.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RAB23 gene promoter:
STAT1 FOXO4 STAT1beta STAT5A STAT1alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB23 promoter sequence

Search SABiosciences Chromatin IP Primers for RAB23

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB23

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

Entrez Gene cytogenetic band: 6p11 Ensembl cytogenetic band: 6p11.2 HGNC cytogenetic band: 6p12.1

RAB23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB23 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M057100: view genomic region (about GC identifiers)

Start:	57,053,581 bp from pter	End:	57,087,078 bp from pter
Size:	33,498 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: RAB23_HUMAN, Q9ULC3 (See protein sequence)

Recommended Name: Ras-related protein Rab-23 precursor

Size: 237 amino acids; 26659 Da

Subunit: Interacts with SUFU

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Cell membrane. Cytoplasm.

Cytoplasmic vesicle, autophagosome. Endosome membrane (By similarity). Cytoplasmic vesicle, phagosome.

Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Recruited to

phagosomes containing S.aureus or M.tuberculosis

Secondary accessions: B2R9I5 Q68DJ6 Q8NI06 Q9P023

Explore the universe of human proteins at neXtProt for RAB23: NX_Q9ULC3

Explore proteomics data for RAB23 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9ULC3

RAB23 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (5 alternative transcripts):

NP_001265595.1 NP_001265596.1 NP_001265597.1 NP_057361.3 NP_899050.1

ENSEMBL proteins:

ENSP00000417610 ENSP00000320413

Human Recombinant Protein Products for RAB23:

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	ProSpec Recombinant Protein for RAB23
	Cloud-Clone Corp. Proteins for RAB23

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	IDA	--
GO:0005776	autophagic vacuole	IDA	--
GO:0005886	plasma membrane	IEA	--

RAB23 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

HGNC Gene Families:

RAB: RAB, member RAS oncogene

4 InterPro protein domains:

IPR005225 Small_GTP-bd_dom

IPR001806 Small_GTPase

IPR003579 Small_GTPase_Rab_type

IPR027417 P-loop_NTPase

Graphical View of Domain Structure for InterPro Entry Q9ULC3

ProtoNet protein and cluster: Q9ULC3

1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3

Similarity: Belongs to the small GTPase superfamily. Rab family

RAB23 for domains About GeneDecksing

(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

Molecular Function:

UniProtKB/Swiss-Prot Summary: RAB23_HUMAN, Q9ULC3

Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of

transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active

GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible

for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and

thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise,

regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in

autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture

by autophagosomes that then merge with lysosomes

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	IDA	--
GO:0005525	GTP binding	IEA	--

RAB23 for ontologies About GeneDecksing

Phenotypes:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rab23):

embryogenesis	integument	limbs/digits/tail	mortality/aging	nervous system
skeleton	vision/eye

RAB23 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for RAB23

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RAB23

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAB23

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAB23

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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate RAB23 (see all 20):
		hsa-miR-30c hsa-miR-3128 hsa-miR-429 hsa-miR-1271 hsa-miR-25 hsa-miR-30d hsa-miR-30a hsa-miR-649

		SwitchGear 3'UTR luciferase reporter plasmid: RAB23 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RAB23
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB23

(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

SuperPaths for RAB23 About

See pathways by source

SuperPath

Contained pathways About

Basal cell carcinoma

Hedgehog signaling pathway

0.43

Sertoli-Sertoli Cell Junction Dynamics

Epithelial Tight Junctions

0.36

Hedgehog Signaling Pathway

Hedgehog Signaling Pathway

0.32

Hedgehog signaling events mediated by Gli proteins

Hedgehog signaling events mediated by Gli proteins

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RAB23

Epithelial Tight Junctions

2 BioSystems Pathways for RAB23

	Hedgehog Signaling Pathway
	Hedgehog signaling events mediated by Gli proteins

1 Kegg Pathway (Kegg details for RAB23):

Hedgehog signaling pathway

RAB23 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RAB23

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/8 Interacting proteins for RAB23 (Q9ULC3³ ENSP00000320413⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CREB3	O43889³	I2D: score=1
GLI2	ENSP00000354586⁴	STRING: ENSP00000354586
RAB3IP	ENSP00000368086⁴	STRING: ENSP00000368086
SMO	ENSP00000249373⁴	STRING: ENSP00000249373
OPTN	ENSP00000263036⁴	STRING: ENSP00000263036

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000045	autophagic vacuole assembly	IMP	--
GO:0006184	GTP catabolic process	IDA	--
GO:0006886	intracellular protein transport	--	--
GO:0006913	nucleocytoplasmic transport	--	--
GO:0006968	cellular defense response	IMP	--

RAB23 for ontologies About GeneDecksing

(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 RAB23

Search CenterWatch for drugs/clinical trials and news about RAB23

(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,
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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 RAB23 gene (5 alternative transcripts):

NM_001278666.1 NM_001278667.1 NM_001278668.1 NM_016277.4 NM_183227.2

Unigene Cluster for RAB23:

RAB23, member RAS oncogene family

Hs.555016 [show with all ESTs]

Unigene Representative Sequence: NM_016277

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

ENST00000468148 ENST00000317483(uc003pds.3 uc003pdt.3 uc010kac.3)

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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate RAB23 (see all 20):
		hsa-miR-30c hsa-miR-3128 hsa-miR-429 hsa-miR-1271 hsa-miR-25 hsa-miR-30d hsa-miR-30a hsa-miR-649

		SwitchGear 3'UTR luciferase reporter plasmid: RAB23 3' UTR sequence

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Additional mRNA sequence:

AB025427.1 AB034244.1 AF161486.1 AF498951.1 AK311123.1 AK313796.1 AY585189.1 BC015021.1

CR749371.1

8 DOTS entries:

DT.100686704 DT.40217313 DT.92421553 DT.100784040 DT.121390121 DT.447994 DT.121389888 DT.97809189

24/156 AceView cDNA sequences (see all 156):

AA034020 AI078466 AI624225 BQ024315 AI684848 BQ437228 AI669457 AI093515

BF939214 AI699794 CB134602 AI337988 AI670097 AI095486 BU618863 NM_183227

AI742498 AA233335 AY585189 AW389620 AA134569 AA897243 AI417487 AA150152

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RAB23 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	·	3c	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9a	·	9b	·	9c
SP1:									-		-		-
SP2:
SP3:									-		-		-		-		-		-
SP4:					-		-		-		-		-
SP5:													-

ECgene alternative splicing isoforms for RAB23

(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

RAB23 expression in normal human tissues (normalized intensities) RAB23 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AAGTCATTTT

About this image

RAB23 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/7 selected tissues (see all 7) fully expand


Uterus (Reproductive System) fully expand to see all 2 entries
myometrium

Brain (Nervous System) fully expand to see all 2 entries
brain/midbrain

Endothelium (Cardiovascular System)
blood vessel

Blood (Hematopoietic System)
Granulocytes Peripheral Blood

Neural Tube (Nervous System)
Primitive Spinal Cord

See RAB23 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RAB23

SOURCE GeneReport for Unigene cluster: Hs.555016

SABiosciences Expression via Pathway-Focused PCR Arrays including RAB23:

Hedgehog Signaling Pathway in human mouse rat

Primary Cilia in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB23

(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 and fungi.

Orthologs for RAB23 gene from 7/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rab23^{1 , 5}	RAB23, member RAS oncogene family^{1, 5}	86.92(n)¹ 93.25(a)¹		1 (12.80 cM)⁵ 19335¹ NM_001159729.1¹ NP_001153201.1¹ 33719882⁵
chicken (Gallus gallus)	Aves	RAB23¹	RAB23, member RAS oncogene family	80.87(n) 88.61(a)		421879 NM_001110060.1 NP_001103530.1
lizard (Anolis carolinensis)	Reptilia	RAB23⁶	Uncharacterized protein	90(a)	1 ↔ 1	1(162975857-163007886)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.15295²	Transcribed sequence with moderate similarity to protein spQ9ULC3 (H.sapiens) RB23_HUMAN Ras-related protein Rab-23 (Protein HSPC137) less	79.19(n)		CF589439.1
zebrafish (Danio rerio)	Actinopterygii	57034849²	--	99.82(n)		57034849
fruit fly (Drosophila melanogaster)	Insecta	CG2108³ Rab23¹	RAB small monomeric GTPase³ CG2108-PA¹	59(a)³ 59.94(n)¹ 63.85(a)¹		83B9³ 40701¹ NM_141317.2¹ NP_649574.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GSP2⁶ GSP1⁶	GTP binding protein (mammalian Ranp homolog) invol... Ran GTPase, GTP binding protein (mammalian Ranp ho...	25(a) 25(a)	many ↔ many many ↔ many	XV(681444-682106) XII(720771-721430)

ENSEMBL Gene Tree for RAB23 (if available)
TreeFam Gene Tree for RAB23 (if available)

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

Paralogs for RAB23 gene

RAN²

18/82 SIMAP similar genes for RAB23 using alignment to 1 protein entry: RAB23_HUMAN(see all similar genes):

RAB7A DKFZp686J07132 RAB3C RAB7B RAB13 RAB3A

RAB3B RAB30 RAB11A RAB19 RAB3D RANP1

RAB11B RAB12 RAB5B RAB9A RAB8B RAB17

RAB23 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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_065294⁴		Carpenter syndrome 1 (CRPT1)⁴	--	see VAR_065294	2	M K	mis⁴		0	--	--	--	--
VAR_034902⁴		Carpenter syndrome 1 (CRPT1)⁴	--	see VAR_034902	2	C R	mis⁴		0	--	--	--	--
rs121908171^1,2	C	pathogenic¹	56962419(-)	`AAAGTT/AAAGAT`	4	/* /L	stg¹		1		NA	4532
rs141923645^1,2	C	--	56915689(+)	`TTGCC-/GCGGC ATTTATAAGCGGC`	2	--	int¹		0	--	--	--	--
rs191147024^1,2		--	56955996(+)	`AATTAC/TATTAC`	2	--	ds500¹		0	--	--	--	--
rs143452107^1,2	C	--	56956104(+)	`CATAT-/AAAACAA`	2	--	ds500¹		0	--	--	--	--
rs146039378^1,2	C	--	56956174(+)	`AAATT-/AAAG AGGAG`	2	--	ds500¹		0	--	--	--	--
rs149301482^1,2	C	--	56956238(+)	`TCCAC-/TGTT TGTTT`	2	--	ds500¹		0	--	--	--	--
rs144680472^1,2		--	56956243(+)	`CTGTTC/TGTTAG`	2	--	ds500¹		0	--	--	--	--
rs9382689^1,2	C,F,A,H	--	56956323(+)	`AATAAG/ACATTT`	2	--	ds500¹		17		NS EA NA CSA WA	2331

HapMap Linkage Disequilibrium report for RAB23 (57053581 - 57087078 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for RAB23: About this table

Variant ID	Type	Subtype	PubMed ID
nsv462949	CNV	Loss	19166990

Human Gene Mutation Database (HGMD): RAB23

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing RAB23:

Gastric Cancer

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(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

OMIM gene information: 606144
OMIM disorders: 201000
UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3

Carpenter syndrome 1 (CRPT1) [MIM:201000]: A rare autosomal recessive disorder characterized by

acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies;

brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart

defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral

malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and

hearing loss may be observed. Note=The disease is caused by mutations affecting the gene represented in this

entry

11 diseases for RAB23: About MalaCards

carpenter syndrome beare-stevenson cutis gyrata syndrome dextrocardia pallister-hall syndrome

craniosynostosis sarcoidosis obesity gastric cancer

hepatocellular carcinoma tuberculosis neuronitis

3 diseases from the University of Copenhagen DISEASES database for RAB23:

Beare-Stevenson cutis gyrata syndrome Craniosynostosis Dextrocardia

RAB23 for disorders About GeneDecksing

Genetic Association Database (GAD): RAB23

Export disorders for RAB23 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 RAB23 gene, integrated from 9 sources (see all 31):
(articles sorted by number of sources associating them with RAB23)

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

Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner. (PubMed id 22365972)^{1, 2} Chi S....Xie J. (2012)
The small GTPases Rab9A and Rab23 function at distinct steps in autophagy during group A Streptococcus infection. (PubMed id 22452336)^{1, 2} Nozawa T.... Nakagawa I. (2012)
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. (PubMed id 21412941)^{1, 2} Jenkins D.... Wilkie A.O. (2011)
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (PubMed id 17503333)^{1, 2} Jenkins D.... Wilkie A.O.M. (2007)
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)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{1, 2} Zhang Q.-H.... Chen Z. (2000)
A Novel Aberrant Splice Site Mutation in RAB23 Leads t o an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Synd rome in a Consanguineous Emirati Family. (PubMed id 23599695)¹ Ben-Salem S....Al-Gazali L. (2013)
Sublocalization of Rab23, a mediator of Sonic hedgehog signaling pathway, in hepatocellular carcinoma cell lines. (PubMed id 23007279)¹ Sun H.J....Huang S.H. (2012)
Deregulation of Rab and Rab effector genes in bladder cancer. (PubMed id 22724020)¹ Ho J.R....Goud B. (2012)

(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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 51715	HGNC: 14263	AceView: RAB23	Ensembl:ENSG00000112210	euGenes: HUgn51715
ECgene: RAB23	Kegg: 51715	H-InvDB: RAB23

(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 RAB23	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RAB23	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for RAB23 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 RAB23 gene:
Search GeneIP for patents involving RAB23

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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RAB23, Member RAS Oncogene Family

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RAB23, Member RAS Oncogene Family

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