Human Gene CYTH2 (uc002pjj.4)
  Description: Homo sapiens cytohesin 2 (CYTH2), transcript variant 2, mRNA.
RefSeq Summary (NM_017457): The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].
Transcript (Including UTRs)
   Position: hg19 chr19:48,972,465-48,985,571 Size: 13,107 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr19:48,972,765-48,982,467 Size: 9,703 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:48,972,465-48,985,571)mRNA (may differ from genome)Protein (400 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CYH2_HUMAN
DESCRIPTION: RecName: Full=Cytohesin-2; AltName: Full=ARF exchange factor; AltName: Full=ARF nucleotide-binding site opener; Short=Protein ARNO; AltName: Full=PH, SEC7 and coiled-coil domain-containing protein 2;
FUNCTION: Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane.
SUBUNIT: Heteromer. Composed of GRASP, CYTH2 and at least one GRM1 (By similarity). Interacts with ARRB1. Interacts with ARL4D; the interaction is direct.
INTERACTION: P29274:ADORA2A; NbExp=6; IntAct=EBI-448974, EBI-2902702; P84077:ARF1; NbExp=4; IntAct=EBI-448974, EBI-447171; Q9Y487:ATP6V0A2; NbExp=2; IntAct=EBI-448974, EBI-988630; P00533:EGFR; NbExp=5; IntAct=EBI-448974, EBI-297353;
SUBCELLULAR LOCATION: Cell membrane. Cytoplasm. Note=Both isoform 1 and isoform 2 are recruited to the cell membrane through its association with ARL4A, ARL4C and ARL4D. Requires also interaction with phosphoinositides for targeting to plasma membrane.
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The PH domain is necessary and sufficient for plasma membrane relocalization.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SEC7 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYTH2
Diseases sorted by gene-association score: neuroblastoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.21 RPKM in Testis
Total median expression: 986.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -142.91300-0.476 Picture PostScript Text
3' UTR -1319.303104-0.425 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000904 - Sec7
IPR023394 - SEC7_alpha_orthog

Pfam Domains:
PF00169 - PH domain
PF01369 - Sec7 domain

SCOP Domains:
48425 - Sec7 domain
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1PBV - X-ray MuPIT 1R8M - X-ray MuPIT 1R8Q - X-ray MuPIT 1R8S - X-ray MuPIT 1S9D - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q99418
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005086 ARF guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0070679 inositol 1,4,5 trisphosphate binding

Biological Process:
GO:0006897 endocytosis
GO:0030036 actin cytoskeleton organization
GO:0032012 regulation of ARF protein signal transduction

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0030054 cell junction
GO:0030426 growth cone
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AB209573 - Homo sapiens mRNA for pleckstrin homology, Sec7 and coiled/coil domains 2 isoform 2 variant protein.
BC038713 - Homo sapiens cytohesin 2, mRNA (cDNA clone MGC:41793 IMAGE:5269719), complete cds.
AK292405 - Homo sapiens cDNA FLJ76941 complete cds, highly similar to Homo sapiens pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) (PSCD2), transcript variant 1, mRNA.
U70728 - Homo sapiens cytohesin-2 mRNA, complete cds.
AK299590 - Homo sapiens cDNA FLJ58420 complete cds, highly similar to Cytohesin-2.
JD472128 - Sequence 453152 from Patent EP1572962.
BC004361 - Homo sapiens cytohesin 2, mRNA (cDNA clone MGC:642 IMAGE:3538580), complete cds.
AB528907 - Synthetic construct DNA, clone: pF1KE0680, Homo sapiens PSCD2 gene for cytohesin 2, without stop codon, in Flexi system.
DQ892565 - Synthetic construct clone IMAGE:100005195; FLH187591.01X; RZPDo839B01150D pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) (PSCD2) gene, encodes complete protein.
DQ896856 - Synthetic construct Homo sapiens clone IMAGE:100011316; FLH187587.01L; RZPDo839B01149D pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) (PSCD2) gene, encodes complete protein.
X99753 - H.sapiens mRNA for Arno protein.
AK091443 - Homo sapiens cDNA FLJ34124 fis, clone FCBBF3010008, highly similar to ARF NUCLEOTIDE-BINDING SITE OPENER.
AX746985 - Sequence 510 from Patent EP1308459.
U59752 - Human Sec7p-like protein mRNA, partial cds.
AF318380 - Homo sapiens pp9943 mRNA, complete cds.
BC036615 - Homo sapiens hypothetical protein LOC284356, mRNA (cDNA clone IMAGE:5284245).
BC047631 - Homo sapiens hypothetical protein LOC284356, mRNA (cDNA clone IMAGE:4815276).
JD196809 - Sequence 177833 from Patent EP1572962.
JD204204 - Sequence 185228 from Patent EP1572962.
JD045925 - Sequence 26949 from Patent EP1572962.
JD149783 - Sequence 130807 from Patent EP1572962.
JD492284 - Sequence 473308 from Patent EP1572962.
JD539938 - Sequence 520962 from Patent EP1572962.
JD174195 - Sequence 155219 from Patent EP1572962.
JD257806 - Sequence 238830 from Patent EP1572962.
BC035646 - Homo sapiens cytohesin 2, mRNA (cDNA clone IMAGE:5558805), with apparent retained intron.
BC012771 - Homo sapiens hypothetical protein LOC284356, mRNA (cDNA clone IMAGE:3834076), partial cds.
BC042153 - Homo sapiens hypothetical protein LOC284356, mRNA (cDNA clone IMAGE:4551986), partial cds.
JD315664 - Sequence 296688 from Patent EP1572962.
JD460774 - Sequence 441798 from Patent EP1572962.
JD336860 - Sequence 317884 from Patent EP1572962.
JD282273 - Sequence 263297 from Patent EP1572962.
JD480742 - Sequence 461766 from Patent EP1572962.
JD128928 - Sequence 109952 from Patent EP1572962.
JD465841 - Sequence 446865 from Patent EP1572962.
JD332869 - Sequence 313893 from Patent EP1572962.
JD491812 - Sequence 472836 from Patent EP1572962.
JD299099 - Sequence 280123 from Patent EP1572962.
JD102163 - Sequence 83187 from Patent EP1572962.
JD327773 - Sequence 308797 from Patent EP1572962.
JD432870 - Sequence 413894 from Patent EP1572962.
JD561497 - Sequence 542521 from Patent EP1572962.
JD270984 - Sequence 252008 from Patent EP1572962.
JD256906 - Sequence 237930 from Patent EP1572962.
JD407920 - Sequence 388944 from Patent EP1572962.
JD229322 - Sequence 210346 from Patent EP1572962.
JD139529 - Sequence 120553 from Patent EP1572962.
JD091444 - Sequence 72468 from Patent EP1572962.
JD504921 - Sequence 485945 from Patent EP1572962.
JD369606 - Sequence 350630 from Patent EP1572962.
JD427086 - Sequence 408110 from Patent EP1572962.
JD095619 - Sequence 76643 from Patent EP1572962.
JD308141 - Sequence 289165 from Patent EP1572962.
JD254674 - Sequence 235698 from Patent EP1572962.
JD506327 - Sequence 487351 from Patent EP1572962.
JD557059 - Sequence 538083 from Patent EP1572962.
JD216997 - Sequence 198021 from Patent EP1572962.
JD147976 - Sequence 129000 from Patent EP1572962.
JD285028 - Sequence 266052 from Patent EP1572962.
JD281772 - Sequence 262796 from Patent EP1572962.
JD050538 - Sequence 31562 from Patent EP1572962.
JD123529 - Sequence 104553 from Patent EP1572962.
JD108529 - Sequence 89553 from Patent EP1572962.
JD048226 - Sequence 29250 from Patent EP1572962.
JD387592 - Sequence 368616 from Patent EP1572962.
JD064746 - Sequence 45770 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_arapPathway - ADP-Ribosylation Factor

Reactome (by CSHL, EBI, and GO)

Protein Q99418 (Reactome details) participates in the following event(s):

R-HSA-8847880 CYTH proteins bind ARF1:GTP
R-HSA-8847883 CYTH proteins stimulate ARF1 GTPase activity
R-HSA-6811438 Intra-Golgi traffic
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K8P0, ARNO, CYH2_HUMAN, NM_017457, NP_059431, PSCD2, PSCD2L, Q8IXY9, Q92958, Q99418
UCSC ID: uc002pjj.4
RefSeq Accession: NM_017457
Protein: Q99418 (aka CYH2_HUMAN)
CCDS: CCDS12722.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017457.5
exon count: 12CDS single in 3' UTR: no RNA size: 4625
ORF size: 1200CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2600.00frame shift in genome: no % Coverage: 99.55
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.