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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C22orf32 Gene

protein-coding   GIFtS: 39
GCID: GC22P042475

chromosome 22 open reading frame 32

  Search for C22orf32
in our new
 Human Malady Compendium 
Biological research products
for C22orf32
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 22 Open Reading Frame 321 2
DDDD1 2
DJ186O1.11
UPF0466 Protein C22orf32, Mitochondrial2

External Ids:    HGNC: 250551   Entrez Gene: 916892   Ensembl: ENSG000001831727   UniProtKB: Q9H4I93   

Export aliases for C22orf32 gene to outside databases

Previous GC identifers: GC22P040805 GC22P025441


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

  --

(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_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C22orf32 gene promoter:
         GR   Max1   AREB6   AML1a   MyoD   c-Myb   GR-alpha   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC22orf32 promoter sequence
   Search SABiosciences Chromatin IP Primers for C22orf32

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C22orf32


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

C22orf32 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C22orf32 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P042475:  view genomic region     (about GC identifiers)

Start:
42,475,695 bp from pter      End:
42,532,261 bp from pter
Size:
56,567 bases      Orientation:
plus strand

1 alternative location:
Chr22+,PATCHES 42,484,013-42,486,337     

(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: CV032_HUMAN, Q9H4I9 (See protein sequence)
Recommended Name: UPF0466 protein C22orf32, mitochondrial precursor  
Size: 107 amino acids; 11441 Da
Subcellular location: Mitochondrion (Potential). Membrane; Single-pass membrane protein (Potential)
Secondary accessions: B2R5D1 Q8TAB9

Explore the universe of human proteins at neXtProt for C22orf32: NX_Q9H4I9

C22orf32 Protein expression data from MOPED and PaxDb:    About this image 
C22orf32 Protein Expression

REFSEQ proteins: NP_201575.3  
ENSEMBL proteins: 
 ENSP00000402623   ENSP00000327467  

Human Recombinant Protein Products for C22orf32: 
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Uscn Proteins for C22orf32

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IEA--
GO:0016021integral to membrane IEA--

C22orf32 for ontologies           About GeneDecksing



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

C22orf32 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR018782 UPF0466

Graphical View of Domain Structure for InterPro Entry Q9H4I9

ProtoNet protein and cluster: Q9H4I9

UniProtKB/Swiss-Prot: CV032_HUMAN, Q9H4I9
Similarity: Belongs to the UPF0466 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Phenotypes:
     1 GenomeRNAi human phenotype for C22orf32:
 Decreased viability with pacli 

     1 MGI phenotypic allele for 1500032L24Rik (no phenotypes)

C22orf32 for phenotypes           About GeneDecksing

Animal Models:
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miRNA
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In Situ Assay
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(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



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C22orf32

(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
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C22orf32
Search CenterWatch for drugs/clinical trials and news about C22orf32 / CV032 

(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,
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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 C22orf32 gene: 
NM_033318.4  

Unigene Cluster for C22orf32:

Chromosome 22 open reading frame 32
Hs.306083  [show with all ESTs]
Unigene Representative Sequence: NM_033318
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000422252 ENST00000331479(uc003bca.3) ENST00000484235 ENST00000547929
ENST00000549112 ENST00000548016 ENST00000550923

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Sirion Biotech Custom design and validation of potent shRNA sequences against C22orf32 
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Additional cDNA sequence: 

AK312142.1 AL449243.1 BC024237.2 CR456453.1 

9 DOTS entries:

DT.415825  DT.95241308  DT.95375085  DT.100810411  DT.102836323  DT.120644859  DT.95253705  DT.91757809 
DT.99961342 

24/262 AceView cDNA sequences (see all 262):

BU783799 BQ944898 AA988287 AJ713576 BM705258 AW043630 BQ185128 AK095636 
BU786271 CR597807 CF528491 F02766 BF975361 T34012 BU734488 BQ217986 
AI080188 BM767050 AI493681 BU736824 BU622667 AL449243 F05371 CR617408 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C22orf32    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b
SP1:              -     -               
SP2:                    -               
SP3:                                    


ECgene alternative splicing isoforms for C22orf32

(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

C22orf32 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCGTATTCC
C22orf32 Expression
About this image
See C22orf32 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C22orf32

SOURCE GeneReport for Unigene cluster: Hs.306083
    SABiosciences Custom PCR Arrays for C22orf32

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C22orf32

(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.

Orthologs for C22orf32 gene from 6/17 species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1500032L24Rik1 , 5 RIKEN cDNA 1500032L24 gene1, 5 84.42(n)1
81.31(a)1
  15 (38.56 cM)5
690291  NM_026914.11  NP_081190.11 
 823389595 
chicken
(Gallus gallus)
Aves C1H22orf321 chromosome 1 open reading frame, human C22orf32 67.75(n)
77.17(a)
  770755  XM_001233648.2  XP_001233649.1 
lizard
(Anolis carolinensis)
Reptilia C22orf326
--
62(a)
1 ↔ 1
5(27093313-27095283)
African clawed frog
(Xenopus laevis)
Amphibia 480375402   -- 75.24(n)    48037540 
zebrafish
(Danio rerio)
Actinopterygii Dr.294722 Transcribed sequence with weak similarity to protein more 79.9(n)    CK395719.1 
fruit fly
(Drosophila melanogaster)
Insecta CG176806
--
45(a)
1 ↔ 1
2R(14034802-14035499)


ENSEMBL Gene Tree for C22orf32 (if available)
TreeFam Gene Tree for C22orf32 (if available) 

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

(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

10/131 NCBI SNPs in C22orf32 are shown (see all 131    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1497413691,2
--42474111(+) GGCCAC/GTTCTT 2 -- us2k1 ut310--------
rs18074941,2
C,F,O,A,H--42474138(+) TTTACC/GCATTT 2 -- us2k1 ut3115Minor allele frequency- G:0.38MN NS EA NA WA CSA 966
rs1454766171,2
--42474141(+) ACCCAC/TTTCCA 2 -- ut31 us2k10--------
rs1808873731,2
--42474160(+) TTTTGA/GGAGGG 2 -- us2k1 ut310--------
rs1861364261,2
--42474344(+) CCTGAC/GTGCCC 2 -- us2k1 ut310--------
rs81392261,2
C,F,H--42474453(+) CCATAA/GTTTCC 2 -- ut31 us2k19Minor allele frequency- G:0.05NS EA NA WA 1208
rs1129035841,2
C--42474676(+) ATTTATTCTGC/-
        
TTCTG
2 -- us2k1 ut311Minor allele frequency- -:0.00CSA 2
rs2009195201,2
--42474682(+) TCTGC-/TTCAGA 2 -- ut31 us2k10--------
rs1907388221,2
--42474878(+) TGGGAA/GAAGTC 2 -- ut31 us2k10--------
rs1488167171,2
--42474995(+) CTCGAG/TAAATC 2 -- us2k1 ut310--------

HapMap Linkage Disequilibrium report for C22orf32 (42475695 - 42532261 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for C22orf32: --

SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

C22orf32 for disorders           About MalaCards

C22orf32 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: C22orf32 (1 document)

Export disorders for C22orf32 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 C22orf32 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C22orf32)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
  4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1 Collins J.E.... Dunham I. (2004)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  6. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)2 Collins J.E.... Dunham I. (2003)
  7. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 91689 HGNC: 25055 AceView: LOC91689 Ensembl:ENSG00000183172 euGenes: HUgn91689
ECgene: C22orf32 H-InvDB: C22orf32

(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
NameDescription
PharmGKB entry for C22orf32 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C22orf32 gene:
Search GeneIP for patents involving C22orf32

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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VWF
(GIFTS: 73)
von Willebrand factor
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 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 


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