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Human Gene ABR (ENST00000574437.5) from GENCODE V38
  Description: ABR, RhoGEF and GTPase activating protein (from HGNC ABR)
RefSeq Summary (NM_001322840): This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000574437.5
Gencode Gene: ENSG00000159842.16
Transcript (Including UTRs)
   Position: hg38 chr17:1,005,791-1,125,755 Size: 119,965 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg38 chr17:1,006,080-1,125,464 Size: 119,385 Coding Exon Count: 22 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:1,005,791-1,125,755)mRNA (may differ from genome)Protein (871 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedUniProtKBWikipedia

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

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.42 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 478.26 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 -112.30291-0.386 Picture PostScript Text
3' UTR -90.00289-0.311 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.

-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  U01147 - Human guanine nucleotide regulatory protein (ABR) mRNA, complete cds.
AK124547 - Homo sapiens cDNA FLJ42556 fis, clone BRACE3005760, highly similar to Active breakpoint cluster region-related protein.
AK126882 - Homo sapiens cDNA FLJ44934 fis, clone BRAMY3017920, highly similar to Active breakpoint cluster region-related protein.
AK302682 - Homo sapiens cDNA FLJ60982 complete cds, highly similar to Active breakpoint cluster region-related protein.
AK299909 - Homo sapiens cDNA FLJ54747 complete cds, highly similar to Active breakpoint cluster region-related protein.
AK295191 - Homo sapiens cDNA FLJ60543 complete cds, highly similar to Active breakpoint cluster region-related protein.
BC172517 - Synthetic construct Homo sapiens clone IMAGE:100069211, MGC:199222 active BCR-related gene (ABR) mRNA, encodes complete protein.
BC156483 - Synthetic construct Homo sapiens clone IMAGE:100063042, MGC:190674 active BCR-related gene (ABR) mRNA, encodes complete protein.
AB384846 - Synthetic construct DNA, clone: pF1KB3726, Homo sapiens ABR gene for active breakpoint cluster region-related protein, complete cds, without stop codon, in Flexi system.
AK094544 - Homo sapiens cDNA FLJ37225 fis, clone BRAMY2000086.
AK127851 - Homo sapiens cDNA FLJ45954 fis, clone PLACE7009936, highly similar to Active breakpoint cluster region-related protein.
JD327351 - Sequence 308375 from Patent EP1572962.
JD316429 - Sequence 297453 from Patent EP1572962.
JD455177 - Sequence 436201 from Patent EP1572962.
JD120388 - Sequence 101412 from Patent EP1572962.
JD414679 - Sequence 395703 from Patent EP1572962.
JD330211 - Sequence 311235 from Patent EP1572962.
JD222472 - Sequence 203496 from Patent EP1572962.
JD278988 - Sequence 260012 from Patent EP1572962.
JD231862 - Sequence 212886 from Patent EP1572962.
AK300336 - Homo sapiens cDNA FLJ53654 complete cds, highly similar to Active breakpoint cluster region-related protein.
JD368138 - Sequence 349162 from Patent EP1572962.
DQ585972 - Homo sapiens piRNA piR-53084, complete sequence.
AK307827 - Homo sapiens cDNA, FLJ97775.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1C7CYZ0, AK302682, ENST00000574437.1, ENST00000574437.2, ENST00000574437.3, ENST00000574437.4, uc010cjq.1, uc010cjq.2, uc010cjq.3
UCSC ID: ENST00000574437.5
RefSeq Accession: NM_001322840
CCDS: CCDS10999.1

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