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    RMDN2 regulator of microtubule dynamics 2 [ Homo sapiens (human) ]

    Gene ID: 151393, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RMDN2provided by HGNC
    Official Full Name
    regulator of microtubule dynamics 2provided by HGNC
    Primary source
    HGNC:HGNC:26567
    See related
    Ensembl:ENSG00000115841 MIM:611872; AllianceGenome:HGNC:26567
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RMD2; RMD4; RMD-2; FAM82A; BLOCK18; FAM82A1; PRO34163; PYST9371
    Summary
    Enables microtubule binding activity. Located in Golgi apparatus; cytosol; and spindle. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in adrenal (RPKM 5.4), spleen (RPKM 2.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RMDN2 in Genome Data Viewer
    Location:
    2p22.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37920901..38067138)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37924033..38074024)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38152430..38294281)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase receptor associated protein pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11365 Neighboring gene PU.1 (SPI1) induced regulator of S100A8 and S100A9 alarmin transcription 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:38168691-38169192 Neighboring gene RMDN2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38207514-38207877 Neighboring gene zinc finger protein 430 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr2:38244929-38245461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11367 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:38298139 Neighboring gene CYP1B1 promoter Neighboring gene cytochrome P450 family 1 subfamily B member 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:38326323-38326823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38334037-38334776 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38334777-38335516 Neighboring gene uncharacterized LOC107985871 Neighboring gene CYP1B1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:38373590-38374789 Neighboring gene RNA, U6 small nuclear 951, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET. Nho K, et al. Nat Commun, 2024 Sep 20. PMID 39304655, Free PMC Article
    2. FFAT motif phosphorylation controls formation and lipid transfer function of inter-organelle contacts. Di Mattia T, et al. EMBO J, 2020 Dec 1. PMID 33124732, Free PMC Article
    3. RMD-1, a novel microtubule-associated protein, functions in chromosome segregation in Caenorhabditis elegans. Oishi K, et al. J Cell Biol, 2007 Dec 17. PMID 18070910, Free PMC Article
    4. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. Kerns SL, et al. Int J Radiat Oncol Biol Phys, 2010 Dec 1. PMID 20932654, Free PMC Article
    5. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Chang MH, et al. Am J Epidemiol, 2009 Jan 1. PMID 18936436, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.
      Title: CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
    4. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32954, FLJ38143, MGC33318

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitotic spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    regulator of microtubule dynamics protein 2
    Names
    family with sequence similarity 82, member A
    family with sequence similarity 82, member A1
    microtubule-associated protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001170791.3 → NP_001164262.1  regulator of microtubule dynamics protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001164262.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (2) has distinct N- and C-termini and is shorter than isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC016689, AY358269, BC024243, BQ017142
      Consensus CDS
      CCDS54351.1
      UniProtKB/Swiss-Prot
      A9UMZ7, A9UN00, Q4ZG33, Q6UXN4, Q8N657, Q8N9A2, Q8NCV6, Q8NHM0, Q96LZ7
      Related
      ENSP00000346549.3, ENST00000354545.8
      Conserved Domains (2) summary
      sd00006
      Location:302 → 352
      TPR; TPR repeat [structural motif]
      cl38903
      Location:24 → 108
      RMtype1_S_TRD-CR_like; Type I restriction-modification system specificity (S) subunit Target Recognition Domain-ConseRved domain (TRD-CR) and similar domains

    2. NM_001170792.3 → NP_001164263.1  regulator of microtubule dynamics protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001164263.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (2) has distinct N- and C-termini and is shorter than isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      BC024243, BQ017142
      Consensus CDS
      CCDS54351.1
      UniProtKB/Swiss-Prot
      A9UMZ7, A9UN00, Q4ZG33, Q6UXN4, Q8N657, Q8N9A2, Q8NCV6, Q8NHM0, Q96LZ7
      Related
      ENSP00000386004.1, ENST00000406384.5
      Conserved Domains (2) summary
      sd00006
      Location:302 → 352
      TPR; TPR repeat [structural motif]
      cl38903
      Location:24 → 108
      RMtype1_S_TRD-CR_like; Type I restriction-modification system specificity (S) subunit Target Recognition Domain-ConseRved domain (TRD-CR) and similar domains

    3. NM_001170793.3 → NP_001164264.1  regulator of microtubule dynamics protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001164264.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF435956, BC024243, BQ017142
      Consensus CDS
      CCDS54352.1
      UniProtKB/TrEMBL
      C9JGB2
      Related
      ENSP00000392977.2, ENST00000417700.6

    4. NM_001322211.2 → NP_001309140.1  regulator of microtubule dynamics protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC016689, BQ017142
      Consensus CDS
      CCDS54351.1
      UniProtKB/Swiss-Prot
      A9UMZ7, A9UN00, Q4ZG33, Q6UXN4, Q8N657, Q8N9A2, Q8NCV6, Q8NHM0, Q96LZ7
      Conserved Domains (2) summary
      sd00006
      Location:302 → 352
      TPR; TPR repeat [structural motif]
      cl38903
      Location:24 → 108
      RMtype1_S_TRD-CR_like; Type I restriction-modification system specificity (S) subunit Target Recognition Domain-ConseRved domain (TRD-CR) and similar domains

    5. NM_001322212.2 → NP_001309141.1  regulator of microtubule dynamics protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC009229, AC016689
      Conserved Domains (2) summary
      COG1196
      Location:69 → 217
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      sd00006
      Location:302 → 352
      TPR; TPR repeat [structural motif]

    6. NM_144713.5 → NP_653314.3  regulator of microtubule dynamics protein 2 isoform 1

      See identical proteins and their annotated locations for NP_653314.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK057516, DB523982
      Consensus CDS
      CCDS1792.1
      UniProtKB/TrEMBL
      A0A0A0MSD2, A0A0C4DFM4
      Related
      ENSP00000234195.3, ENST00000234195.7
      Conserved Domains (2) summary
      sd00006
      Location:480 → 530
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:518 → 565
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      37920901..38067138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443519.1 → XP_047299475.1  regulator of microtubule dynamics protein 2 isoform X8

    2. XM_047443518.1 → XP_047299474.1  regulator of microtubule dynamics protein 2 isoform X7

      UniProtKB/Swiss-Prot
      A9UMZ7, A9UN00, Q4ZG33, Q6UXN4, Q8N657, Q8N9A2, Q8NCV6, Q8NHM0, Q96LZ7

    3. XM_011532616.3 → XP_011530918.1  regulator of microtubule dynamics protein 2 isoform X4

      See identical proteins and their annotated locations for XP_011530918.1

      Conserved Domains (2) summary
      sd00006
      Location:302 → 352
      TPR; TPR repeat [structural motif]
      cl38903
      Location:24 → 108
      RMtype1_S_TRD-CR_like; Type I restriction-modification system specificity (S) subunit Target Recognition Domain-ConseRved domain (TRD-CR) and similar domains

    4. XM_017003476.3 → XP_016858965.1  regulator of microtubule dynamics protein 2 isoform X5

    5. XM_017003478.2 → XP_016858967.1  regulator of microtubule dynamics protein 2 isoform X6

    6. XM_017003477.3 → XP_016858966.1  regulator of microtubule dynamics protein 2 isoform X5

    7. XM_011532615.4 → XP_011530917.2  regulator of microtubule dynamics protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A0A0MSD2

    8. XM_011532614.4 → XP_011530916.1  regulator of microtubule dynamics protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011530916.1

      UniProtKB/TrEMBL
      A0A0A0MSD2
      Conserved Domains (2) summary
      sd00006
      Location:480 → 530
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:518 → 565
      TPR_11; TPR repeat

    9. XM_047443520.1 → XP_047299476.1  regulator of microtubule dynamics protein 2 isoform X9

    10. XM_017003474.2 → XP_016858963.1  regulator of microtubule dynamics protein 2 isoform X3

      UniProtKB/TrEMBL
      A0A0A0MSD2

    11. XM_047443521.1 → XP_047299477.1  regulator of microtubule dynamics protein 2 isoform X10

      Related
      ENSP00000416367.1, ENST00000442857.5

    RNA

    1. XR_939668.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      37924033..38074024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340799.1 → XP_054196774.1  regulator of microtubule dynamics protein 2 isoform X7

      UniProtKB/Swiss-Prot
      A9UMZ7, A9UN00, Q4ZG33, Q6UXN4, Q8N657, Q8N9A2, Q8NCV6, Q8NHM0, Q96LZ7

    2. XM_054340798.1 → XP_054196773.1  regulator of microtubule dynamics protein 2 isoform X7

      UniProtKB/Swiss-Prot
      A9UMZ7, A9UN00, Q4ZG33, Q6UXN4, Q8N657, Q8N9A2, Q8NCV6, Q8NHM0, Q96LZ7

    3. XM_054340794.1 → XP_054196769.1  regulator of microtubule dynamics protein 2 isoform X4

    4. XM_054340795.1 → XP_054196770.1  regulator of microtubule dynamics protein 2 isoform X5

    5. XM_054340797.1 → XP_054196772.1  regulator of microtubule dynamics protein 2 isoform X6

    6. XM_054340796.1 → XP_054196771.1  regulator of microtubule dynamics protein 2 isoform X5

    7. XM_054340792.1 → XP_054196767.1  regulator of microtubule dynamics protein 2 isoform X2

    8. XM_054340791.1 → XP_054196766.1  regulator of microtubule dynamics protein 2 isoform X1

    9. XM_054340800.1 → XP_054196775.1  regulator of microtubule dynamics protein 2 isoform X9

    10. XM_054340793.1 → XP_054196768.1  regulator of microtubule dynamics protein 2 isoform X3

    11. XM_054340801.1 → XP_054196776.1  regulator of microtubule dynamics protein 2 isoform X10

    RNA

    1. XR_008486294.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LZ7.2 GenPept UniProtKB/Swiss-Prot:Q96LZ7

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