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    MTMR14 myotubularin related protein 14 [ Homo sapiens (human) ]

    Gene ID: 64419, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MTMR14provided by HGNC
    Official Full Name
    myotubularin related protein 14provided by HGNC
    Primary source
    HGNC:HGNC:26190
    See related
    Ensembl:ENSG00000163719 MIM:611089; AllianceGenome:HGNC:26190
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3orf29
    Summary
    This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 18.3), lymph node (RPKM 17.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTMR14 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9649505..9702393)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9641462..9694348)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9691189..9744077)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376949 Neighboring gene dual specificity phosphatase 5 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9690821-9691716 Neighboring gene uncharacterized LOC124909344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9745156-9746066 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:9757470-9757599 Neighboring gene copine family member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19405 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:9772855-9773414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9773975-9774534 Neighboring gene bromodomain and PHD finger containing 1

    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. Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. Vergne I, et al. EMBO J, 2009 Aug 5. PMID 19590496, Free PMC Article
    2. Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells. Li Z, et al. Gene, 2019 Apr 5. PMID 30586604
    3. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Tosch V, et al. Hum Mol Genet, 2006 Nov 1. PMID 17008356
    4. Protein tyrosine phosphatases in the human genome. Alonso A, et al. Cell, 2004 Jun 11. PMID 15186772
    5. A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging. Kovács T, et al. Sci Rep, 2022 Dec 17. PMID 36528685, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging.
      Title: A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging.
    2. Results demonstrated that MTMR14 expression is overexpressed in liver cancer. A loss-of-function study showed that knockdown of MTMR14 promotes cell apoptosis and inhibits cell migration, and inhibits tumor migration in vivo in a liver cancer peritoneal implantation nude mouse model.
      Title: Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells.
    3. This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy.
      Title: The role of MTMR14 in autophagy and in muscle disease.
    4. The authors uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14).
      Title: Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy.
    5. 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.
    6. Study identified a novel phosphoinositide phosphatase, JUMPY in sporadic cases of centronuclear myopathy; two missense variants that affect the enzymatic function were found
      Title: A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
    7. C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation disrupts the catalytic activity in a patient with centronuclear myopathy.
      Title: A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
    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

    Associated conditions

    Description Tests
    Autosomal dominant centronuclear myopathy
    MedGen: C4551952 OMIM: 160150 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11546, FLJ22405, FLJ46453, FLJ90311

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in macroautophagy TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14; myotubularin-related protein 14
    Names
    NS5ATP4ABP1
    egg-derived tyrosine phosphatase homolog
    jumpy
    phosphatidylinositol-3-phosphate phosphatase
    NP_001070993.1
    NP_001070994.1
    NP_001387447.1
    NP_001387448.1
    NP_001387449.1
    NP_001387450.1
    NP_001387451.1
    NP_001387452.1
    NP_001387453.1
    NP_001387454.1
    NP_001387455.1
    NP_001387456.1
    NP_001387457.1
    NP_001387458.1
    NP_001387459.1
    NP_001387460.1
    NP_001387461.1
    NP_001387462.1
    NP_001387463.1
    NP_001387464.1
    NP_001387465.1
    NP_001387466.1
    NP_001387467.1
    NP_001387468.1
    NP_001387469.1
    NP_001387470.1
    NP_001387471.1
    NP_001387472.1
    NP_001387473.1
    NP_001387474.1
    NP_001387475.1
    NP_001387476.1
    NP_001387477.1
    NP_001387478.1
    NP_001387479.1
    NP_071930.2
    XP_011532315.1
    XP_016862530.1
    XP_047304675.1
    XP_054203518.1
    XP_054203519.1
    XP_054203520.1

    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.

    Genomic

    1. NG_017068.1 RefSeqGene

      Range
      5073..57961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077525.3 → NP_001070993.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 2

      See identical proteins and their annotated locations for NP_001070993.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and it encodes the longest protein (isoform 2).
      Source sequence(s)
      BC035690, DC316206
      Consensus CDS
      CCDS43043.1
      UniProtKB/Swiss-Prot
      Q0JTH5, Q0JU83, Q6PIZ4, Q6QE21, Q86VK9, Q8IYK1, Q8NCE2, Q8TCM7, Q9H6C0
      Related
      ENSP00000296003.5, ENST00000296003.9
      Conserved Domains (1) summary
      cd13213
      Location:128 → 244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    2. NM_001077526.3 → NP_001070994.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 1

      See identical proteins and their annotated locations for NP_001070994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame segment in the 3' coding region, compared to variant 2. The resulting protein (isoform 1) has a shorter C-terminus when it is compared to isoform 2.
      Source sequence(s)
      AF289603, BF796406, DC316206, DQ630520
      Consensus CDS
      CCDS43044.1
      UniProtKB/Swiss-Prot
      Q8NCE2
      UniProtKB/TrEMBL
      Q8WYY9
      Related
      ENSP00000323462.8, ENST00000353332.9
      Conserved Domains (1) summary
      cd13213
      Location:128 → 244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    3. NM_001400518.1 → NP_001387447.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    4. NM_001400519.1 → NP_001387448.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    5. NM_001400520.1 → NP_001387449.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    6. NM_001400521.1 → NP_001387450.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    7. NM_001400522.1 → NP_001387451.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    8. NM_001400523.1 → NP_001387452.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    9. NM_001400524.1 → NP_001387453.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    10. NM_001400525.1 → NP_001387454.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    11. NM_001400526.1 → NP_001387455.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    12. NM_001400527.1 → NP_001387456.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    13. NM_001400528.1 → NP_001387457.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    14. NM_001400529.1 → NP_001387458.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    15. NM_001400530.1 → NP_001387459.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    16. NM_001400531.1 → NP_001387460.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    17. NM_001400532.1 → NP_001387461.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    18. NM_001400533.1 → NP_001387462.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    19. NM_001400534.1 → NP_001387463.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    20. NM_001400535.1 → NP_001387464.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    21. NM_001400536.1 → NP_001387465.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    22. NM_001400537.1 → NP_001387466.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    23. NM_001400538.1 → NP_001387467.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    24. NM_001400539.1 → NP_001387468.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    25. NM_001400540.1 → NP_001387469.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    26. NM_001400541.1 → NP_001387470.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    27. NM_001400542.1 → NP_001387471.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    28. NM_001400543.1 → NP_001387472.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    29. NM_001400544.1 → NP_001387473.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    30. NM_001400545.1 → NP_001387474.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    31. NM_001400546.1 → NP_001387475.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    32. NM_001400547.1 → NP_001387476.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    33. NM_001400548.1 → NP_001387477.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    34. NM_001400549.1 → NP_001387478.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    35. NM_001400550.1 → NP_001387479.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    36. NM_022485.5 → NP_071930.2  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 3

      See identical proteins and their annotated locations for NP_071930.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame segments in the 3' coding region, compared to variant 2. The resulting protein (isoform 3) has a shorter C-terminus when it is compared to isoform 2.
      Source sequence(s)
      AL713695, BF796406, DC316206
      Consensus CDS
      CCDS43045.1
      UniProtKB/TrEMBL
      Q8WYY9
      Related
      ENSP00000334070.7, ENST00000351233.9
      Conserved Domains (1) summary
      cd13213
      Location:128 → 244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    RNA

    1. NR_174503.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    2. NR_174504.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    3. NR_174505.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
      Related
      ENST00000447144.5

    4. NR_174506.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    5. NR_174507.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    6. NR_174508.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    7. NR_174509.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    8. NR_174510.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
      Related
      ENST00000414996.1

    9. NR_174511.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      9649505..9702393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007041.2 → XP_016862530.1  myotubularin-related protein 14 isoform X1

    2. XM_047448719.1 → XP_047304675.1  myotubularin-related protein 14 isoform X3

    3. XM_011534013.2 → XP_011532315.1  myotubularin-related protein 14 isoform X2

      Conserved Domains (1) summary
      cd13213
      Location:7 → 123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    RNA

    1. XR_007095717.1 RNA Sequence

    2. XR_007095718.1 RNA Sequence

    3. XR_007095719.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      9641462..9694348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347543.1 → XP_054203518.1  myotubularin-related protein 14 isoform X1

    2. XM_054347545.1 → XP_054203520.1  myotubularin-related protein 14 isoform X3

    3. XM_054347544.1 → XP_054203519.1  myotubularin-related protein 14 isoform X2

    RNA

    1. XR_008486770.1 RNA Sequence

    2. XR_008486771.1 RNA Sequence

    3. XR_008486772.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCE2.2 GenPept UniProtKB/Swiss-Prot:Q8NCE2

    Gene LinkOut

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