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

    Gene ID: 64419, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ11546, FLJ22405, FLJ46453, FLJ90311

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol  
    located_in perinuclear region of cytoplasm PubMed 
    located_in ruffle PubMed 

    General protein information

    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)

    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.

    Genomic

    1. NG_017068.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001077525.3NP_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:128244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    2. NM_001077526.3NP_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:128244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    3. NM_001400518.1NP_001387447.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    4. NM_001400519.1NP_001387448.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    5. NM_001400520.1NP_001387449.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    6. NM_001400521.1NP_001387450.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    7. NM_001400522.1NP_001387451.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    8. NM_001400523.1NP_001387452.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    9. NM_001400524.1NP_001387453.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    10. NM_001400525.1NP_001387454.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    11. NM_001400526.1NP_001387455.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    12. NM_001400527.1NP_001387456.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    13. NM_001400528.1NP_001387457.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
      UniProtKB/TrEMBL
      Q8WYY9
    14. NM_001400529.1NP_001387458.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    15. NM_001400530.1NP_001387459.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    16. NM_001400531.1NP_001387460.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    17. NM_001400532.1NP_001387461.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    18. NM_001400533.1NP_001387462.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    19. NM_001400534.1NP_001387463.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    20. NM_001400535.1NP_001387464.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    21. NM_001400536.1NP_001387465.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    22. NM_001400537.1NP_001387466.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    23. NM_001400538.1NP_001387467.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    24. NM_001400539.1NP_001387468.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    25. NM_001400540.1NP_001387469.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    26. NM_001400541.1NP_001387470.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    27. NM_001400542.1NP_001387471.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    28. NM_001400543.1NP_001387472.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    29. NM_001400544.1NP_001387473.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    30. NM_001400545.1NP_001387474.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    31. NM_001400546.1NP_001387475.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    32. NM_001400547.1NP_001387476.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    33. NM_001400548.1NP_001387477.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
    34. NM_001400549.1NP_001387478.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
      UniProtKB/TrEMBL
      C9JSR1
    35. NM_001400550.1NP_001387479.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC022382, AC024163
      UniProtKB/TrEMBL
      C9JSR1
    36. NM_022485.5NP_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:128244
      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_017007041.2XP_016862530.1  myotubularin-related protein 14 isoform X1

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

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

      Conserved Domains (1) summary
      cd13213
      Location:7123
      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_054347543.1XP_054203518.1  myotubularin-related protein 14 isoform X1

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

    3. XM_054347544.1XP_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

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