Human Gene RMDN3 (ENST00000338376.8_7) from GENCODE V47lift37
  Description: regulator of microtubule dynamics 3, transcript variant 1 (from RefSeq NM_018145.3)
Gencode Transcript: ENST00000338376.8_7
Gencode Gene: ENSG00000137824.16_20
Transcript (Including UTRs)
   Position: hg19 chr15:41,028,085-41,047,452 Size: 19,368 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr15:41,028,739-41,046,981 Size: 18,243 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:41,028,085-41,047,452)mRNA (may differ from genome)Protein (470 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RMD3_HUMAN
DESCRIPTION: RecName: Full=Regulator of microtubule dynamics protein 3; Short=RMD-3; Short=hRMD-3; AltName: Full=Cerebral protein 10; AltName: Full=Protein FAM82A2; AltName: Full=Protein FAM82C; AltName: Full=Protein tyrosine phosphatase-interacting protein 51; AltName: Full=TCPTP-interacting protein 51;
FUNCTION: Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis.
SUBUNIT: Interacts with PTPN2. Interacts with microtubules. Interacts with VAPB.
INTERACTION: P61981:YWHAG; NbExp=2; IntAct=EBI-1056589, EBI-359832;
SUBCELLULAR LOCATION: Mitochondrion membrane; Single-pass membrane protein. Mitochondrion outer membrane. Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase localizes in the cytoplasm, and during mitosis localizes to the spindle microtubules and spindle poles.
TISSUE SPECIFICITY: Present at high level in epidermis and seminiferous epithelium: while basal cells in the epidermis and spermatogonia show no perceptible amount, keratinocytes of suprabasal layers and differentiating first-order spermatocytes up to spermatids exhibit high expression. In skeletal muscle, its presence is restricted to fibers of the fast twitch type. In surface epithelia containing ciliated cells, it is associated with the microtubular structures responsible for ciliary movement. Also present in specific structures of the central nervous system such as neurons of the hippocampal region, ganglion cells of the autonomic nervous system, and axons of the peripheral nervous system (at protein level). Widely expressed.
INDUCTION: By EGF, TGFB1, retinoic acid-and 1,25-dihydroxyvitamin D(3).
DOMAIN: The transmembrane region is required for mitochondrial localization.
SIMILARITY: Belongs to the FAM82/RMD family.
SEQUENCE CAUTION: Sequence=BAB15298.1; Type=Erroneous termination; Positions=453; Note=Translated as Glu; Sequence=BAC85554.1; Type=Frameshift; Positions=383;

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 20.53 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 625.57 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 -82.60179-0.461 Picture PostScript Text
3' UTR -165.80654-0.254 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
IPR011990 - TPR-like_helical

SCOP Domains:
81901 - HCP-like
48452 - TPR-like

ModBase Predicted Comparative 3D Structure on Q96TC7
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006874 cellular calcium ion homeostasis
GO:0006915 apoptotic process
GO:0030154 cell differentiation

Cellular Component:
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  AK090731 - Homo sapiens cDNA FLJ33412 fis, clone BRACE2019519.
BC008970 - Homo sapiens family with sequence similarity 82, member A2, mRNA (cDNA clone IMAGE:3160413), partial cds.
AK025963 - Homo sapiens cDNA: FLJ22310 fis, clone HRC05110.
BC063844 - Homo sapiens family with sequence similarity 82, member A2, mRNA (cDNA clone MGC:74996 IMAGE:6527521), complete cds.
AY358793 - Homo sapiens clone DNA139686 SRLG3122 (UNQ3122) mRNA, complete cds.
AK097286 - Homo sapiens cDNA FLJ39967 fis, clone SPLEN2027488, highly similar to Homo sapiens family with sequence similarity 82, member C (FAM82C), mRNA.
AK092058 - Homo sapiens cDNA FLJ34739 fis, clone MESAN2008679, highly similar to Homo sapiens family with sequence similarity 82, member C (FAM82C), mRNA.
AK001441 - Homo sapiens cDNA FLJ10579 fis, clone NT2RP2003446.
AK123192 - Homo sapiens cDNA FLJ41198 fis, clone BRACE2046251, highly similar to Homo sapiens hucep-10 mRNA for cerebral protein-10.
AK123282 - Homo sapiens cDNA FLJ41288 fis, clone BRAMY2038832, highly similar to Homo sapiens family with sequence similarity 82, member C (FAM82C), mRNA.
JD255502 - Sequence 236526 from Patent EP1572962.
JD289573 - Sequence 270597 from Patent EP1572962.
JD098934 - Sequence 79958 from Patent EP1572962.
JD173009 - Sequence 154033 from Patent EP1572962.
JD052901 - Sequence 33925 from Patent EP1572962.
JD086669 - Sequence 67693 from Patent EP1572962.
HQ447480 - Synthetic construct Homo sapiens clone IMAGE:100070810; CCSB014331_01 family with sequence similarity 82, member C (FAM82C) gene, encodes complete protein.
KJ894149 - Synthetic construct Homo sapiens clone ccsbBroadEn_03543 FAM82A2 gene, encodes complete protein.
AB000782 - Homo sapiens hucep-10 mRNA for cerebral protein-10, complete cds.
AB590829 - Synthetic construct DNA, clone: pFN21AE1933, Homo sapiens FAM82A2 gene for family with sequence similarity 82, member A2, without stop codon, in Flexi system.
CU687834 - Synthetic construct Homo sapiens gateway clone IMAGE:100022828 5' read FAM82C mRNA.
JD186961 - Sequence 167985 from Patent EP1572962.
JD422016 - Sequence 403040 from Patent EP1572962.
JD065174 - Sequence 46198 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A9UMZ9, B3KRR3, ENST00000338376.1, ENST00000338376.2, ENST00000338376.3, ENST00000338376.4, ENST00000338376.5, ENST00000338376.6, ENST00000338376.7, FAM82A2, FAM82C, hucep-10, NM_018145, PTPIP51, Q6ZWE9, Q96H23, Q96SD6, Q96TC7, Q9H6G1, Q9NVQ6, RMD3_HUMAN, RMDN3 , uc317uzz.1, uc317uzz.2, UNQ3122/PRO10274
UCSC ID: ENST00000338376.8_7
RefSeq Accession: NM_018145.3
Protein: Q96TC7 (aka RMD3_HUMAN)

-  Gene Model Information
  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.