Aliases for TMEM11 Gene

Aliases for TMEM11 Gene

  • Transmembrane Protein 11 2 3 5
  • PM1 2 3 4
  • Transmembrane Protein 11, Mitochondrial 3 4
  • C17orf35 3 4
  • PMI 2 3
  • Chromosome 17 Open Reading Frame 35 2
  • Putative Receptor Protein 3
  • Protein PM1 4
  • Protein PMI 4
  • TMEM11 5

External Ids for TMEM11 Gene

Previous HGNC Symbols for TMEM11 Gene

  • C17orf35

Previous GeneCards Identifiers for TMEM11 Gene

  • GC17M021042
  • GC17M020303

Summaries for TMEM11 Gene

GeneCards Summary for TMEM11 Gene

TMEM11 (Transmembrane Protein 11) is a Protein Coding gene. Diseases associated with TMEM11 include Penicilliosis and Trichorhinophalangeal Syndrome, Type Iii.

UniProtKB/Swiss-Prot Summary for TMEM11 Gene

Additional gene information for TMEM11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM11 Gene

Genomics for TMEM11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J021208 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611.3 +1.4 1438 7.6 BRCA1 ARHGAP35 HNRNPL CREB1 PRDM10 ZNF629 TFE3 SIX5 IKZF1 ZNF692 TMEM11 ENSG00000235530 LOC107984969 lnc-NATD1-4 USP22 DHRS7B FAM106B NATD1 SNODB2085
GH17J021250 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 -38.3 -38329 3.8 TEAD4 RFX1 KDM1A ZNF692 RCOR2 POLR2A PATZ1 REST ZNF740 SP1 NATD1 lnc-NATD1-1 ENSG00000235530 TMEM11 piR-58098
GH17J021126 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.1 +86.8 86775 3.6 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 RFX1 IKZF1 ZNF692 POLR2A DHRS7B TMEM11 MAP2K3 KCNJ18 NATD1 FJ601684-172
GH17J021171 Enhancer 0.7 Ensembl dbSUPER 23.4 +43.5 43476 3.4 RELA IKZF2 EED RUNX3 IKZF1 MTA3 SPI1 ETV6 TMEM11 DHRS7B ENSG00000235530 FAM106B FJ601684-173 MK992648
GH17J021165 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 11.8 +46.9 46880 3.3 HNF4A DHRS7B TMEM11 FAM106B FJ601684-173 MK992648
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM11

Top Transcription factor binding sites by QIAGEN in the TMEM11 gene promoter:
  • Cart-1
  • E47
  • Max1
  • POU2F1
  • POU2F1a
  • SREBP-1c
  • Tal-1
  • USF-1
  • USF1
  • YY1

Genomic Locations for TMEM11 Gene

Genomic Locations for TMEM11 Gene
chr17:21,197,954-21,214,176
(GRCh38/hg38)
Size:
16,223 bases
Orientation:
Minus strand
chr17:21,100,593-21,117,937
(GRCh37/hg19)
Size:
17,345 bases
Orientation:
Minus strand

Genomic View for TMEM11 Gene

Genes around TMEM11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM11 Gene

Proteins for TMEM11 Gene

  • Protein details for TMEM11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17152-TMM11_HUMAN
    Recommended name:
    Transmembrane protein 11, mitochondrial
    Protein Accession:
    P17152
    Secondary Accessions:
    • Q53YB2

    Protein attributes for TMEM11 Gene

    Size:
    192 amino acids
    Molecular mass:
    21541 Da
    Quaternary structure:
    • Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. Interacts with IMMT/MIC60.

neXtProt entry for TMEM11 Gene

Post-translational modifications for TMEM11 Gene

  • Ubiquitination at Lys142
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM11 Gene

Domains & Families for TMEM11 Gene

Gene Families for TMEM11 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM11 Gene

GenScript: Design optimal peptide antigens:
  • Protein PMI (TMM11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17152

UniProtKB/Swiss-Prot:

TMM11_HUMAN :
  • Belongs to the TMEM11 family.
Family:
  • Belongs to the TMEM11 family.
genes like me logo Genes that share domains with TMEM11: view

Function for TMEM11 Gene

Molecular function for TMEM11 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in mitochondrial morphogenesis.

Phenotypes From GWAS Catalog for TMEM11 Gene

Gene Ontology (GO) - Molecular Function for TMEM11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TMEM11: view
genes like me logo Genes that share phenotypes with TMEM11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM11 Gene

Localization for TMEM11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM11 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM11 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005887 integral component of plasma membrane NAS 2110658
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM11: view

Pathways & Interactions for TMEM11 Gene

PathCards logo

SuperPathways for TMEM11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IBA,IMP 21274005
GO:0007007 inner mitochondrial membrane organization IBA 21873635
genes like me logo Genes that share ontologies with TMEM11: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM11 Gene

Drugs & Compounds for TMEM11 Gene

(1) Drugs for TMEM11 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TMEM11: view

Transcripts for TMEM11 Gene

mRNA/cDNA for TMEM11 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM11

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM11 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2:
SP3: - -
SP4: - - -

Relevant External Links for TMEM11 Gene

GeneLoc Exon Structure for
TMEM11

Expression for TMEM11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM11 Gene

mRNA differential expression in normal tissues according to GTEx for TMEM11 Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for TMEM11 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM11 Gene



Protein tissue co-expression partners for TMEM11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM11

SOURCE GeneReport for Unigene cluster for TMEM11 Gene:

Hs.592945

Evidence on tissue expression from TISSUES for TMEM11 Gene

  • Nervous system(4.6)
  • Kidney(4.5)
  • Liver(4.5)
  • Muscle(2.9)
  • Skin(2.8)
  • Blood(2.7)
  • Heart(2.7)
  • Intestine(2.6)
  • Lung(2.6)
  • Lymph node(2.5)
  • Spleen(2.4)
  • Bone marrow(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with TMEM11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM11 Gene

Orthologs for TMEM11 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM11 30 31
  • 100 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM11 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM11 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM11 30 31
  • 94.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem11 30
  • 91.93 (n)
Cow
(Bos Taurus)
Mammalia TMEM11 30 31
  • 91.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem11 30 17 31
  • 91.23 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM11 30 31
  • 87.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM11 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem11 30
  • 80.04 (n)
Str.6511 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.14927 30
Zebrafish
(Danio rerio)
Actinopterygii tmem11 30 31
  • 78.43 (n)
OneToOne
Dr.16878 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10266 30
Fruit Fly
(Drosophila melanogaster)
Insecta Pmi 30 31
  • 54.78 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005550 30
  • 51.61 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11331 31
  • 49 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13940 30
Species where no ortholog for TMEM11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TMEM11 Gene

ENSEMBL:
Gene Tree for TMEM11 (if available)
TreeFam:
Gene Tree for TMEM11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM11: view image

Paralogs for TMEM11 Gene

No data available for Paralogs for TMEM11 Gene

Variants for TMEM11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM11 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
784738 Benign: not provided 21,198,467(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TMEM11 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM11 Gene

Variant ID Type Subtype PubMed ID
esv2665619 CNV deletion 23128226
esv3554255 CNV deletion 23714750
esv3582570 CNV loss 25503493
esv3640229 CNV loss 21293372
nsv1059146 CNV gain 25217958
nsv1059210 CNV gain 25217958
nsv1078306 OTHER inversion 25765185

Variation tolerance for TMEM11 Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM11 Gene

Disorders for TMEM11 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TMEM11 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TMEM11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM11 Gene

Publications for TMEM11 Gene

  1. Inner-membrane proteins PMI/TMEM11 regulate mitochondrial morphogenesis independently of the DRP1/MFN fission/fusion pathways. (PMID: 21274005) Rival T … Royet J (EMBO reports 2011) 2 3 4
  2. Nucleotide sequence of a cDNA encoding a protein with primary structural similarity to G-protein coupled receptors. (PMID: 2110658) Murphy PM … Malech HL (Nucleic acids research 1990) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TMEM11 Gene

Sources for TMEM11 Gene