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Aliases for TMEM107 Gene

Aliases for TMEM107 Gene

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

External Ids for TMEM107 Gene

Previous GeneCards Identifiers for TMEM107 Gene

  • GC17M008027
  • GC17M008028
  • GC17M008077
  • GC17M008080
  • GC17M008082
  • GC17M008085
  • GC17M008113
  • GC17M008187
  • GC17M008233
  • GC17M008268

Summaries for TMEM107 Gene

GeneCards Summary for TMEM107 Gene

TMEM107 (Transmembrane Protein 107) is a Protein Coding gene. Diseases associated with TMEM107 include short-rib thoracic dysplasia 14 with polydactyly and meckel syndrome 1.

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).

No data available for Entrez Gene 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

Promoters for TMEM107 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM107 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM107 Gene

Chromosome:
17
Start:
8,172,978 bp from pter
End:
8,176,399 bp from pter
Size:
3,422 bases
Orientation:
Minus strand

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

Proteomics data for TMEM107 Gene at MOPED

Post-translational modifications for TMEM107 Gene

Other Protein References for TMEM107 Gene

No data available for DME Specific Peptides for TMEM107 Gene

Domains & Families for TMEM107 Gene

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 Gene Families and 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).
genes like me logo Genes that share phenotypes with TMEM107: view

Animal Models for TMEM107 Gene

MGI Knock Outs for TMEM107:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM107

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TMEM107 Gene COMPARTMENTS Subcellular localization image for TMEM107 gene
Compartment Confidence
plasma membrane 3
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for TMEM107 Gene

Pathways & Interactions for TMEM107 Gene

SuperPathways for TMEM107 Gene

No Data Available

Interacting Proteins for TMEM107 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000314116%0d%0a9606.ENSP00000328182%0d%0a
Selected Interacting proteins: ENSP00000314116 for TMEM107 Gene via STRING

Symbol External ID(s) Details
CLN8

Gene Ontology (GO) - Biological Process for TMEM107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0021532 neural tube patterning IEA --
GO:0035058 nonmotile primary cilium assembly IMP 26595381
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:

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 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



SOURCE GeneReport for Unigene cluster for TMEM107 Gene Hs.513933

genes like me logo Genes that share expression patterns with TMEM107: view

Protein tissue co-expression partners for TMEM107 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 36
  • 100 (a)
OneToOne
TMEM107 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia TMEM107 35
  • 92.14 (n)
  • 91.43 (a)
TMEM107 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM107 36
  • 95 (a)
OneToOne
TMEM107 35
  • 90.87 (n)
  • 94.52 (a)
mouse
(Mus musculus)
Mammalia Tmem107 16
Tmem107 36
  • 76 (a)
OneToOne
Tmem107 35
  • 87.14 (n)
  • 88.57 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM107 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem107 35
  • 86.67 (n)
  • 88.57 (a)
lizard
(Anolis carolinensis)
Reptilia TMEM107 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34137 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731170 35
  • 66.67 (n)
  • 67.63 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10133 35
zebrafish
(Danio rerio)
Actinopterygii tmem107l 35
  • 62.83 (n)
  • 63.31 (a)
tmem107l 36
  • 59 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for TMEM107:
  • 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
rs527409449 -- 8,172,596(+) CTAGC(A/T)CTTTA downstream-variant-500B
rs777681798 -- 8,172,603(+) TTTAG(A/G)AGGCC downstream-variant-500B
rs566198287 -- 8,172,571(+) AAACG(C/T)GGTGG downstream-variant-500B
rs547622154 -- 8,172,551(+) GCAAA(A/G)GAGGG downstream-variant-500B
rs549503416 -- 8,172,548(+) AGTGC(-/AA)AAGAG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv833352 CNV Loss 17160897
nsv907658 CNV Loss 21882294
nsv1964 CNV Insertion 18451855
nsv527475 CNV Loss 19592680
nsv833353 CNV Loss 17160897
dgv3056n71 CNV Loss 21882294
nsv827879 CNV Gain 20364138

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

HapMap Linkage Disequilibrium report
TMEM107
Human Gene Mutation Database (HGMD)
TMEM107

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

Disorders for TMEM107 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMEM107 Gene - From: GeneTests and DISEASES

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 14 with polydactyly
  • srtd14
meckel syndrome 1
  • meckel syndrome
joubert syndrome 1
  • joubert 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (PMID: 23142642) Passantino R. … Guarneri P. (Biochim. Biophys. Acta 2013) 3
  4. Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice. (PMID: 19727342) Geisert E.E. … Williams R.W. (Mol. Vis. 2009) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for TMEM107 Gene

Sources for TMEM107 Gene

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