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

Gene ID: 151393, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in adrenal (RPKM 5.4), spleen (RPKM 2.9) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
2p22.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37920901..38067138)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37924033..38074024)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
  5. PTEN identified as important risk factor of chronic obstructive pulmonary disease. Hosgood HD 3rd, et al. Respir Med, 2009 Dec. PMID 19625176, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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
  
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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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_2023_10

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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