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 Functional Annotation unavailable |
 Annotation Distribution unavailable |
 Genomic Variants unavailble for Mouse Genomic Variants unavailable |
Functional Annotation |
Annotation Distribution |
Genomic Variants |
 Protein-Protein Interactions unavailable |
 Genome Viewer unavailable |
 Damaging Variants unavailble for Mouse Damaging Variants unavailable |
Protein-Protein Interactions |
Genome Viewer |
Damaging Variants |
 Annotation Comparison unavailable |
 OLGA unavailable |
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Annotation Comparison |
OLGA |
Excel (Download) |
 Gene Enrichment unavailable |
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Gene Enrichment |
Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| malignant mesothelioma | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25756049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Plant PJ, etal., Biochem J. 2009 Apr 1;419(1):57-63. doi: 10.1042/BJ20081866. |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 9734811 9736772 10888877 11302699 12477932 15231748 16787938 19322201 19329342 20061380 20736309 21940522 22664934 23150675 25195910 25208829 25659891 26186194 26787466 27432908 27625994 27880917 27976729 28514442 29117863 |
RGD Disease Portals| MTMR4 has been annotated in the following RGD Disease Portals. |
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Comparative Map Data| MTMR4 (Homo sapiens - human) |
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| Mtmr4 (Mus musculus - house mouse) |
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| Mtmr4 (Rattus norvegicus - Norway rat) |
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| Mtmr4 (Chinchilla lanigera - long-tailed chinchilla) |
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| MTMR4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MTMR4 (Canis lupus familiaris - dog) |
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| Mtmr4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| MTMR4 (Sus scrofa - pig) |
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Position Markers| G42216 |
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| SHGC-78927 |
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| AA596759 |
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| D17S1780 |
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| A002V09 |
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| MTMR4_8899 |
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| D17S1363E |
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| D17S2030 |
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| WI-12688 |
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| STS-H68355 |
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| G06215 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Nucleotide Sequences| RefSeq Transcripts | NM_004687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_005257784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005257785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005257786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006722168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011525460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB014547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC005666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF264717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AI538945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK308877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC035609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DR003190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_004687 ⟹ NP_004678 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCGCGGCCTCAGCAGCTGCGGGAGACGGAAGTGGCAAGAGCGCGGCCTCAGAGGGTCGGGCGGAhide sequence |
| RefSeq Acc Id: | XM_005257784 ⟹ XP_005257841 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
ACTCGTGCGGGAGGGCGGAGCTGGGCCCGCTCCATTGTGGAGAGGAGGGGAGAGGCGCGCGGGAhide sequence |
| RefSeq Acc Id: | XM_005257785 ⟹ XP_005257842 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GGGGCACTGTGGTGGGGTCGGGACTGCGCGGCCTCAGCAGCTGCGGGAGACGGAAGTGGCAAGAhide sequence |
| RefSeq Acc Id: | XM_005257786 ⟹ XP_005257843 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
CTCCGCCCCTAGAACCTGGGCACCTGGGCTCCCCTGCCAACCTGGCCCGCCCCCTGGGACCAGAhide sequence |
| RefSeq Acc Id: | XM_006722168 ⟹ XP_006722231 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCGCCTCCTTCCTCCAGTGAGAAGCAGGCAGCCAGTACCCTTGCCACGGTAGAATGGGTGAGGhide sequence |
| RefSeq Acc Id: | XM_011525460 ⟹ XP_011523762 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGGCAAAACATTCCTGTGGATTCATGCTCCTTCAACTACTGCCACTTCACCCCAAGAGTCAGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_004678 | (Get FASTA) | NCBI Sequence Viewer |
| XP_005257841 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005257842 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005257843 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006722231 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011523762 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF72539 | (Get FASTA) | NCBI Sequence Viewer |
| AAH35609 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA31622 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW94454 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW94455 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9NYA4 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_004678 ⟸ NM_004687 |
| - UniProtKB: | Q9NYA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRLHIKFhide sequence |
| RefSeq Acc Id: | XP_005257842 ⟸ XM_005257785 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MGRGMGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRLhide sequence |
| RefSeq Acc Id: | XP_005257843 ⟸ XM_005257786 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q9NYA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRLHIKFhide sequence |
| RefSeq Acc Id: | XP_005257841 ⟸ XM_005257784 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MSLTARVSCSMLSCFGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADhide sequence |
| RefSeq Acc Id: | XP_006722231 ⟸ XM_006722168 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q9NYA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRLHIKFhide sequence |
| RefSeq Acc Id: | XP_011523762 ⟸ XM_011525460 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MGRGMGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRLhide sequence |
Promoters| RGD ID: | 6811261 | |||||||||
| Promoter ID: | HG_ACW:35512 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | MTMR4.IAPR07 | |||||||||
| Position: |
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| RGD ID: | 6814609 | |||||||||
| Promoter ID: | HG_XEF:3476 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | NM_001086804, NM_001105827 | |||||||||
| Position: |
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| RGD ID: | 6794249 | |||||||||
| Promoter ID: | HG_KWN:26687 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | UC010DCX.1 | |||||||||
| Position: |
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| RGD ID: | 6794352 | |||||||||
| Promoter ID: | HG_KWN:26688 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | NM_004687 | |||||||||
| Position: |
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| RGD ID: | 7235807 | |||||||||
| Promoter ID: | EPDNEW_H23649 | |||||||||
| Type: | initiation region | |||||||||
| Name: | MTMR4_1 | |||||||||
| Description: | myotubularin related protein 4 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 | copy number gain | Hydrocephalus [RCV000050957]|See cases [RCV000050957] | Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
| GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] | Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
| NM_004687.4(MTMR4):c.674G>C (p.Arg225Pro) | single nucleotide variant | Lung cancer [RCV000100571] | Chr17:58507311 [GRCh38] Chr17:56584672 [GRCh37] Chr17:17q22 |
uncertain significance |
| GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 | copy number gain | See cases [RCV000137437] | Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
| GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1 | copy number loss | See cases [RCV000140211] | Chr17:57418806..59735464 [GRCh38] Chr17:55496167..57812825 [GRCh37] Chr17:52851166..55167607 [NCBI36] Chr17:17q22-23.1 |
pathogenic |
| GRCh37/hg19 17q22(chr17:55916829-56770618)x1 | copy number loss | See cases [RCV000239996] | Chr17:55916829..56770618 [GRCh37] Chr17:17q22 |
likely pathogenic |
| GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 | copy number gain | See cases [RCV000240364] | Chr17:56321134..62080001 [GRCh37] Chr17:17q22-23.3 |
pathogenic |
| GRCh37/hg19 17q22(chr17:52189051-57477162)x3 | copy number gain | See cases [RCV000448801] | Chr17:52189051..57477162 [GRCh37] Chr17:17q22 |
pathogenic |
| GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 | copy number gain | See cases [RCV000448805] | Chr17:49076980..58740945 [GRCh37] Chr17:17q21.33-23.2 |
pathogenic |
| GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 | copy number gain | See cases [RCV000447823] | Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:7452 | AgrOrtholog |
| COSMIC | MTMR4 | COSMIC |
| Ensembl Genes | ENSG00000108389 | ENTREZGENE |
| Ensembl Protein | ENSP00000325285 | ENTREZGENE |
| Ensembl Transcript | ENST00000323456 | ENTREZGENE |
| Gene3D-CATH | 3.30.40.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000108389 | GTEx |
| HGNC ID | HGNC:7452 | ENTREZGENE |
| Human Proteome Map | MTMR4 | Human Proteome Map |
| InterPro | MTMR4 | UniProtKB/Swiss-Prot |
| MTMR4_PH-GRAM | UniProtKB/Swiss-Prot | |
| Myotubularin-like_Pase_dom | UniProtKB/Swiss-Prot | |
| Myotubularin_fam | UniProtKB/Swiss-Prot | |
| Prot-tyrosine_phosphatase-like | UniProtKB/Swiss-Prot | |
| Tyr_Pase_AS | UniProtKB/Swiss-Prot | |
| TYR_PHOSPHATASE_dom | UniProtKB/Swiss-Prot | |
| Znf_FYVE | UniProtKB/Swiss-Prot | |
| Znf_FYVE-rel | UniProtKB/Swiss-Prot | |
| Znf_FYVE_PHD | UniProtKB/Swiss-Prot | |
| Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:9110 | UniProtKB/Swiss-Prot |
| NCBI Gene | 9110 | ENTREZGENE |
| OMIM | 603559 | OMIM |
| PANTHER | PTHR10807 | UniProtKB/Swiss-Prot |
| PTHR10807:SF64 | UniProtKB/Swiss-Prot | |
| Pfam | FYVE | UniProtKB/Swiss-Prot |
| Myotub-related | UniProtKB/Swiss-Prot | |
| PharmGKB | PA31255 | PharmGKB |
| PROSITE | PPASE_MYOTUBULARIN | UniProtKB/Swiss-Prot |
| TYR_PHOSPHATASE_1 | UniProtKB/Swiss-Prot | |
| TYR_PHOSPHATASE_2 | UniProtKB/Swiss-Prot | |
| ZF_FYVE | UniProtKB/Swiss-Prot | |
| SMART | FYVE | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF52799 | UniProtKB/Swiss-Prot |
| SSF57903 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.514373 | ENTREZGENE |
| UniProt | J3KT95_HUMAN | UniProtKB/TrEMBL |
| J3QKV8_HUMAN | UniProtKB/TrEMBL | |
| J3QLB9_HUMAN | UniProtKB/TrEMBL | |
| J3QR65_HUMAN | UniProtKB/TrEMBL | |
| J3QRJ2_HUMAN | UniProtKB/TrEMBL | |
| J3QS98_HUMAN | UniProtKB/TrEMBL | |
| MTMR4_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | D3DTZ6 | UniProtKB/Swiss-Prot |
| Q8IV27 | UniProtKB/Swiss-Prot | |
| Q9Y4D5 | UniProtKB/Swiss-Prot |
| More on MTMR4 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1321134 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-06-11 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
