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MTMR4 myotubularin related protein 4 [ Homo sapiens (human) ]

Gene ID: 9110, updated on 5-Aug-2018

Summary

Official Symbol
MTMR4provided by HGNC
Official Full Name
myotubularin related protein 4provided by HGNC
Primary source
HGNC:HGNC:7452
See related
Ensembl:ENSG00000108389 MIM:603559; Vega:OTTHUMG00000179079
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
ZFYVE11; FYVE-DSP2
Expression
Ubiquitous expression in testis (RPKM 12.1), brain (RPKM 10.5) and 25 other tissues See more
Orthologs

Genomic context

See MTMR4 in Genome Data Viewer
Location:
17q22
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (58489532..58518109, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56566893..56595271, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 Neighboring gene ring finger protein 43 Neighboring gene heat shock transcription factor 5 Neighboring gene SET pseudogene 3 Neighboring gene SEPT4 antisense RNA 1 Neighboring gene septin 4 Neighboring gene chromosome 17 open reading frame 47

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan for childhood caries implicates novel genes.
NHGRI GWA Catalog
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0647

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphatase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
early endosome membrane TAS
Traceable Author Statement
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 

General protein information

Preferred Names
myotubularin-related protein 4
Names
FYVE domain-containing dual specificity protein phosphatase 2
zinc finger FYVE domain-containing protein 11
zinc finger, FYVE domain containing 11
NP_004678.3
XP_005257841.1
XP_005257842.1
XP_005257843.1
XP_006722231.1
XP_011523762.1

NCBI Reference Sequences (RefSeq)

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_004687.4NP_004678.3  myotubularin-related protein 4

    See identical proteins and their annotated locations for NP_004678.3

    Status: VALIDATED

    Source sequence(s)
    AB014547, AI538945, BC035609, DR003190
    Consensus CDS
    CCDS11608.1
    UniProtKB/Swiss-Prot
    Q9NYA4
    Related
    ENSP00000325285.5, OTTHUMP00000260667, ENST00000323456.9, OTTHUMT00000444721
    Conserved Domains (3) summary
    cd13342
    Location:23136
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:11111170
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    pfam06602
    Location:127519
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    58489532..58518109 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257784.2XP_005257841.1  myotubularin-related protein 4 isoform X1

    Conserved Domains (3) summary
    cd13342
    Location:37150
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:11251184
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    pfam06602
    Location:141533
    Myotub-related; Myotubularin-like phosphatase domain
  2. XM_006722168.4XP_006722231.1  myotubularin-related protein 4 isoform X3

    See identical proteins and their annotated locations for XP_006722231.1

    UniProtKB/Swiss-Prot
    Q9NYA4
    Conserved Domains (3) summary
    cd13342
    Location:23136
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:11111170
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    pfam06602
    Location:127519
    Myotub-related; Myotubularin-like phosphatase domain
  3. XM_005257785.5XP_005257842.1  myotubularin-related protein 4 isoform X2

    See identical proteins and their annotated locations for XP_005257842.1

    Conserved Domains (3) summary
    cd13342
    Location:27140
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:11151174
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    pfam06602
    Location:131523
    Myotub-related; Myotubularin-like phosphatase domain
  4. XM_005257786.5XP_005257843.1  myotubularin-related protein 4 isoform X3

    See identical proteins and their annotated locations for XP_005257843.1

    UniProtKB/Swiss-Prot
    Q9NYA4
    Conserved Domains (3) summary
    cd13342
    Location:23136
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:11111170
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    pfam06602
    Location:127519
    Myotub-related; Myotubularin-like phosphatase domain
  5. XM_011525460.3XP_011523762.1  myotubularin-related protein 4 isoform X2

    See identical proteins and their annotated locations for XP_011523762.1

    Conserved Domains (3) summary
    cd13342
    Location:27140
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:11151174
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    pfam06602
    Location:131523
    Myotub-related; Myotubularin-like phosphatase domain
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