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Aliases for TMEM107 Gene

Aliases for TMEM107 Gene

  • Transmembrane Protein 107 2 3 5
  • GRVS638 3
  • PRO1268 3
  • JBTS29 3
  • MKS13 3

External Ids for TMEM107 Gene

Previous GeneCards Identifiers for TMEM107 Gene

  • GC17M008027
  • GC17M008028
  • GC17M008077
  • GC17M008080
  • GC17M008082
  • GC17M008085
  • GC17M008113
  • GC17M008187
  • GC17M008233
  • GC17M008268
  • GC17M008313
  • GC17M008346
  • GC17M008380
  • GC17M008420

Summaries for TMEM107 Gene

Entrez Gene Summary for TMEM107 Gene

  • This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]

GeneCards Summary for TMEM107 Gene

TMEM107 (Transmembrane Protein 107) is a Protein Coding gene. Diseases associated with TMEM107 include Meckel Syndrome 13 and Orofaciodigital Syndrome Xvi.

UniProtKB/Swiss-Prot for TMEM107 Gene

  • Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity).

Additional gene information for TMEM107 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM107 Gene

Genomics for TMEM107 Gene

Regulatory Elements for TMEM107 Gene

Enhancers for TMEM107 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H008117 1.4 ENCODE dbSUPER 11.7 +55.1 55132 7.7 FEZF1 YY1 ZNF143 SP3 ZFP41 SSRP1 ZNF610 GLIS1 RCOR2 NBN NEURL4 SENP3 DVL2 NLGN2 PFAS ENSG00000265749 HES7 LOC100996842 ZBTB4 CTC1
GH17H008126 1.3 ENCODE dbSUPER 12.4 +49.8 49810 2.1 HDGF ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF207 FOS DEK SP3 NEURL4 SENP3 DVL2 PFAS ENSG00000265749 LOC100996842 HES7 PER1 POLR2A SNORD10
GH17H008199 1.2 Ensembl ENCODE 11.6 -23.9 -23944 1.6 HDGF ZNF133 ZNF2 YY1 ZNF121 GLIS2 KLF7 ATF7 SP3 YY2 LINC00324 TMEM107 SNORD118 PFAS CTC1 ENSG00000271002 GC17P008239
GH17H008109 1.1 Ensembl ENCODE 10.6 +66.5 66495 1.5 HDGF ATF1 RB1 NFIB ZNF2 RAD21 ZNF143 ATF7 RUNX3 SMARCA5 ALOXE3 ALOX12B LOC107985075 ALOX15B SNORD118 TMEM107 TRAPPC1 CNTROB KCNAB3 PFAS
GH17H008062 0.9 ENCODE 10.6 +113.6 113565 0.8 HDAC1 PKNOX1 ATF1 ZNF133 INSM2 KLF17 FEZF1 ZNF2 ZEB1 TCF12 ALOX12B ALOX15B GUCY2D SNORD118 TMEM107 HES7 ALOXE3P1 ENSG00000263427
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM107 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM107 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090966 99 1001 ZNF133 ARID4B SIN3A BRCA1 GLIS2 ZNF416 KLF7 RUNX3 SP3 REST

Genomic Locations for TMEM107 Gene

Genomic Locations for TMEM107 Gene
chr17:8,172,978-8,176,399
(GRCh38/hg38)
Size:
3,422 bases
Orientation:
Minus strand
chr17:8,076,296-8,079,717
(GRCh37/hg19)

Genomic View for TMEM107 Gene

Genes around TMEM107 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM107 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM107 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM107 Gene

Proteins for TMEM107 Gene

  • Protein details for TMEM107 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UX40-TM107_HUMAN
    Recommended name:
    Transmembrane protein 107
    Protein Accession:
    Q6UX40
    Secondary Accessions:
    • A0PJV7
    • Q6NSE3
    • Q6ZRX9
    • Q96T82

    Protein attributes for TMEM107 Gene

    Size:
    140 amino acids
    Molecular mass:
    15503 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK38512.1; Type=Frameshift; Positions=63, 82; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM107 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM107 Gene

Post-translational modifications for TMEM107 Gene

No data available for DME Specific Peptides for TMEM107 Gene

Domains & Families for TMEM107 Gene

Gene Families for TMEM107 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM107 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM107 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM107: view

No data available for UniProtKB/Swiss-Prot for TMEM107 Gene

Function for TMEM107 Gene

Molecular function for TMEM107 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity).

Phenotypes From GWAS Catalog for TMEM107 Gene

Gene Ontology (GO) - Molecular Function for TMEM107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM107: view
genes like me logo Genes that share phenotypes with TMEM107: view

Animal Models for TMEM107 Gene

MGI Knock Outs for TMEM107:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM107 Gene

Localization for TMEM107 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM107 Gene

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 TMEM107 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Midbody (2)
  • Midbody ring (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone IDA 26595381
genes like me logo Genes that share ontologies with TMEM107: view

Pathways & Interactions for TMEM107 Gene

SuperPathways for TMEM107 Gene

No Data Available

Interacting Proteins for TMEM107 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000314116%0d%0a9606.ENSP00000328182%0d%0a9606.ENSP00000261499%0d%0a
Selected Interacting proteins: ENSP00000314116 Q6UX40-TM107_HUMAN for TMEM107 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TMEM107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0008150 biological_process ND --
GO:0021532 neural tube patterning IEA --
GO:0030030 cell projection organization IEA --
GO:0042733 embryonic digit morphogenesis IEA --
genes like me logo Genes that share ontologies with TMEM107: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM107 Gene

Drugs & Compounds for TMEM107 Gene

No Compound Related Data Available

Transcripts for TMEM107 Gene

Unigene Clusters for TMEM107 Gene

Transmembrane protein 107:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM107 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e
SP1: -
SP2: - -
SP3: - -
SP4: - - -
SP5: -
SP6: -
SP7: -
SP8: - - - - - - -

Relevant External Links for TMEM107 Gene

GeneLoc Exon Structure for
TMEM107
ECgene alternative splicing isoforms for
TMEM107

Expression for TMEM107 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM107 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM107 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMEM107 Gene



Protein tissue co-expression partners for TMEM107 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM107 Gene:

TMEM107

SOURCE GeneReport for Unigene cluster for TMEM107 Gene:

Hs.513933

Evidence on tissue expression from TISSUES for TMEM107 Gene

  • Intestine(4.2)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Blood(4)
genes like me logo Genes that share expression patterns with TMEM107: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM107 Gene

Orthologs for TMEM107 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM107 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM107 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia TMEM107 33 34
  • 92.14 (n)
dog
(Canis familiaris)
Mammalia TMEM107 33 34
  • 90.87 (n)
mouse
(Mus musculus)
Mammalia Tmem107 33 16 34
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Tmem107 33
  • 86.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM107 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM107 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731170 33
  • 66.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34137 33
zebrafish
(Danio rerio)
Actinopterygii tmem107l 33 34
  • 62.83 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10133 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Species where no ortholog for TMEM107 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 TMEM107 Gene

ENSEMBL:
Gene Tree for TMEM107 (if available)
TreeFam:
Gene Tree for TMEM107 (if available)

Paralogs for TMEM107 Gene

No data available for Paralogs for TMEM107 Gene

Variants for TMEM107 Gene

Sequence variations from dbSNP and Humsavar for TMEM107 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs201787275 Pathogenic 8,173,444(+) TGATC(A/C/G)TCAGA downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs747057554 Pathogenic 8,173,566(+) CAGGT(-/A)AAGGA nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs75008470 Pathogenic 8,173,448(+) CGTCA(A/C/G/T)AAAGA downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs752171066 Pathogenic 8,174,573(+) AATAT(-/GAA)GAAGG upstream-variant-2KB, cds-indel
rs755495846 Pathogenic 8,173,531(+) AATCA(A/C/G/T)CATGT nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM107 Gene

Variant ID Type Subtype PubMed ID
nsv833353 CNV loss 17160897
nsv833352 CNV loss 17160897
nsv827879 CNV gain 20364138
nsv574336 CNV loss 21841781
nsv527475 CNV loss 19592680
nsv1964 CNV insertion 18451855

Variation tolerance for TMEM107 Gene

Residual Variation Intolerance Score: 50.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 3.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM107 Gene

Human Gene Mutation Database (HGMD)
TMEM107
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM107

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM107 Gene

Disorders for TMEM107 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TMEM107 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meckel syndrome 13
  • joubert syndrome 29
orofaciodigital syndrome xvi
orofaciodigital syndrome
  • orofaciodigital syndromes
orofaciodigital syndrome i
  • orofaciodigital syndrome 1
meckel syndrome 1
  • meckel syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM107

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM107
genes like me logo Genes that share disorders with TMEM107: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM107 Gene

Publications for TMEM107 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. 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 60
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  5. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. (PMID: 28289185) Bruel AL … Thauvin-Robinet C (Journal of medical genetics 2017) 3 60

Products for TMEM107 Gene

Sources for TMEM107 Gene

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