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CXorf40B Gene

protein-coding   GIFtS: 38
GCID: GC0XM149097

Chromosome X Open Reading Frame 40B

  Search for CXorf40B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome X Open Reading Frame 40B1 2
Protein CXorf40B2

External Ids:    HGNC: 174021   Entrez Gene: 5415782   Ensembl: ENSG000001970217   UniProtKB: Q96DE93   

Export aliases for CXorf40B gene to outside databases

Previous GC identifers: GC0XU900620 GC0XM148851 GC0XM137971


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CXorf40B Gene:
CXorf40B (chromosome X open reading frame 40B) is a protein-coding gene. An important paralog of this gene is CXorf40A.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CXorf40B gene promoter:
         SREBP-1c   NCX/Ncx   Lmo2   CUTL1   SREBP-1b   E47   SREBP-1a   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCXorf40B promoter sequence
   Search Chromatin IP Primers for CXorf40B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CXorf40B


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

CXorf40B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CXorf40B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM149097:  view genomic region     (about GC identifiers)

Start:
149,097,745 bp from pter      End:
149,107,029 bp from pter
Size:
9,285 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CX04B_HUMAN, Q96DE9 (See protein sequence)
Recommended Name: Protein CXorf40B  
Size: 158 amino acids; 17780 Da

Explore the universe of human proteins at neXtProt for CXorf40B: NX_Q96DE9

Explore proteomics data for CXorf40B at MOPED


See CXorf40B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001013867.1  
ENSEMBL proteins: 
 ENSP00000417546   ENSP00000359434   ENSP00000347339   ENSP00000359432   ENSP00000474324  
 ENSP00000474715  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR007374 ASCH_domain
 IPR015947 PUA-like_domain

Graphical View of Domain Structure for InterPro Entry Q96DE9

ProtoNet protein and cluster: Q96DE9


CXorf40B 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CXorf40B
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
mitochondrion2
nucleus2

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CXorf40B
Interactions:

    Search GeneGlobe Interaction Network for CXorf40B

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for CXorf40B (ENSP000003473394) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
MT2AENSP000002451854STRING: ENSP00000245185
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CXorf40B (CX04B)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CXorf40B gene: 
NM_001013845.1  

Unigene Cluster for CXorf40B:

Chromosome X open reading frame 40B
Hs.545950  [show with all ESTs]
Unigene Representative Sequence: NM_001013845
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000462691(uc011mxs.1) ENST00000370406(uc004fdy.3) ENST00000355203
ENST00000370404 ENST00000370409 ENST00000483447 ENST00000497550(uc004fdz.1)

miRNA
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Additional mRNA sequence: 

BC009523.1 L43575.1 L43578.1 U66042.1 U66051.1 

17 DOTS entries:

DT.95366192  DT.95366214  DT.100815520  DT.121321350  DT.121321306  DT.92450174  DT.121321333  DT.95366205 
DT.95366208  DT.121299174  DT.95098591  DT.100768177  DT.100815530  DT.101977157  DT.121321380  DT.92450175 
DT.95366195 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CXorf40B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAAACAGGTT
CXorf40B Expression
About this image

CXorf40B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CXorf40B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.545950
    Custom PCR Arrays for CXorf40B
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXorf40B

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for CXorf40B gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1110012L19Rik1 RIKEN cDNA 1110012L19 gene 80.04(n)
75.8(a)
  68618  NM_026787.2  NP_081063.1 
chicken
(Gallus gallus)
Aves LOC7722691 protein CXorf40A-like 66.01(n)
66.01(a)
  772269  XM_001234387.3  XP_001234388.2 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
63(a)
1 → many
GL343310.1(1054059-1055256)
tropical clawed frog
(Xenopus tropicalis)
Amphibia cxorf40a1 chromosome X open reading frame 40A 64.49(n)
63.4(a)
  100379929  XM_002940437.2  XP_002940483.1 
zebrafish
(Danio rerio)
Actinopterygii zgc:1102221 zgc:110222 56.33(n)
56.96(a)
  550336  NM_001017643.1  NP_001017643.1 


ENSEMBL Gene Tree for CXorf40B (if available)
TreeFam Gene Tree for CXorf40B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CXorf40B gene
CXorf40A1 2  
1 SIMAP similar gene for CXorf40B using alignment to 4 protein entries:     CX04B_HUMAN (see all proteins):
CXorf40A

CXorf40B 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CXorf40B (see all 261)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1505490601,2
C--137573385(+) AACCGC/TCGGTG 1 -- us2k10--------
rs70630851,2
C,A--137573437(+) TGACTA/GAACAG 1 -- us2k1 tfbs31Minor allele frequency- G:0.00NA 2
rs3704778681,2
C--137573437(+) TGACTA/GACAGC 1 -- us2k10--------
rs120075541,2
C,H--137573921(+) TTAGGC/TCGGAG 9 -- us2k10--------
rs120108521,2
H--137573961(+) CTCATC/TACCTG 9 -- us2k10--------
rs120106471,2
H--137573983(+) TTAAAA/GAGACG 9 -- us2k10--------
rs1390735801,2
--137573987(+) AGAGAC/TGGTTC 9 -- us2k10--------
rs1434486791,2
C--137574089(+) TGCATA/GGACCC 9 -- us2k10--------
rs1833121801,2
--137574109(+) GTTCCC/TGCCCT 9 -- us2k10--------
rs1118171921,2
C,F--137574142(+) GGGGGA/TAGACA 9 -- us2k11Minor allele frequency- T:0.00CSA 1

HapMap Linkage Disequilibrium report for CXorf40B (149097745 - 149107029 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for CXorf40B:    About this table    
Variant IDTypeSubtypePubMed ID
nsv9996CNV Gain18304495
nsv525908CNV Gain19592680

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CXorf40B
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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.)
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CXorf40B for disorders           About GeneDecksing

Genetic Association Database (GAD): CXorf40B

Export disorders for CXorf40B 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 CXorf40B gene integrated from 10 sources:
(articles sorted by number of sources associating them with CXorf40B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
  2. 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. (Genome Res. 2004)
  3. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. (PubMed id 8717057)1, 2 Timms K.M.... Gibbs R.A. (Genome Res. 1995)
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  5. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. Molecular and phenotypic variation in patients with severe Hunter syndrome. (PubMed id 9147653)1 Timms K.M.... Gibbs R.A. (Hum. Mol. Genet. 1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 541578 HGNC: 17402 Ensembl:ENSG00000197021 euGenes: HUgn541578 ECgene: CXorf40B
H-InvDB: CXorf40B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CXorf40B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CXorf40B gene:
Search GeneIP for patents involving CXorf40B

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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