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... See more...

Aliases for TMEM107 Gene

Aliases for TMEM107 Gene

  • Transmembrane Protein 107 2 3 4 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
  • GC17M008603
  • GC17M008639
  • GC17M008678
  • GC17M008313
  • GC17M008346
  • GC17M008380
  • GC17M008420
  • GC17M008454
  • GC17M008494
  • GC17M008527
  • GC17M008559

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 Orofaciodigital Syndrome Xvi and Meckel Syndrome 13.

UniProtKB/Swiss-Prot Summary 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). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474).

Additional gene information for TMEM107 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM107 Gene

Genomics for TMEM107 Gene

GeneHancer (GH) Regulatory Elements for TMEM107 Gene

Promoters and enhancers for TMEM107 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM107 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM107

Top Transcription factor binding sites by QIAGEN in the TMEM107 gene promoter:
  • AP-1
  • CBF(2)
  • CBF-A
  • CUTL1
  • MIF-1
  • NF-YC
  • Nkx2-5
  • Pbx1a
  • Zic3

Genomic Locations for TMEM107 Gene

Genomic Locations for TMEM107 Gene
chr17:8,172,457-8,176,399
(GRCh38/hg38)
Size:
3,943 bases
Orientation:
Minus strand
chr17:8,076,296-8,079,717
(GRCh37/hg19)
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:
    • Part of the tectonic-like complex (also named B9 complex). Interacts with TMEM237, TMEM231, MKS1 and TMEM216.
    SequenceCaution:
    • Sequence=AAK38512.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM107 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM107 Gene

Post-translational modifications for TMEM107 Gene

  • Glycosylation at Asn79

No data available for DME Specific Peptides for TMEM107 Gene

Domains & Families for TMEM107 Gene

Gene Families for TMEM107 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM107 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM107 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96758 (B2RDT5_HUMAN)
  • cDNA FLJ14907 fis, clone PLACE1005934 (B3KNL7_HUMAN)
  • Transmembrane protein 107 (TM107_HUMAN)
genes like me logo Genes that share domains with TMEM107: view

No data available for Graphical View of Domain Structure 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). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474).

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 --
GO:0005515 protein binding IPI 26595381
genes like me logo Genes that share ontologies with TMEM107: view
genes like me logo Genes that share phenotypes with TMEM107: view

Human Phenotype Ontology for TMEM107 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM107 Gene

MGI Knock Outs for TMEM107:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM107

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. Cell projection, cilium. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269 PubMed:26595381}.

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
cytoskeleton 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Midbody ring (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone IEA,IDA 26595381
GO:0036038 MKS complex IBA,IDA 26595381
genes like me logo Genes that share ontologies with TMEM107: view

Pathways & Interactions for TMEM107 Gene

PathCards logo

SuperPathways for TMEM107 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0021532 neural tube patterning IEA --
GO:0030030 cell projection organization IEA --
GO:0042733 embryonic digit morphogenesis IEA --
GO:0060271 cilium assembly IEA,ISS --
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

mRNA/cDNA for TMEM107 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for TMEM107 Gene

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



Protein tissue co-expression partners for TMEM107 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM107 31 30
  • 92.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM107 31 30
  • 90.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem107 17 31 30
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Tmem107 30
  • 86.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM107 31
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM107 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731170 30
  • 66.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34137 30
zebrafish
(Danio rerio)
Actinopterygii tmem107l 31 30
  • 62.83 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10133 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM107: view image

Paralogs for TMEM107 Gene

No data available for Paralogs for TMEM107 Gene

Variants for TMEM107 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM107 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
725988 Benign: not provided 8,174,263(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
777127 Benign: not provided 8,174,224(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
808223 Uncertain Significance: not provided 8,173,476(-) G/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
808224 Uncertain Significance: not provided 8,173,558(-) G/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
808225 Likely Pathogenic: not provided 8,173,565(-) G/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for TMEM107 Gene

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

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

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)

Additional Variant Information 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

(11) MalaCards diseases for TMEM107 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TM107_HUMAN
  • Meckel syndrome 13 (MKS13) [MIM:617562]: A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:26123494, ECO:0000269 PubMed:26595381}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Orofaciodigital syndrome 16 (OFD16) [MIM:617563]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive. {ECO:0000269 PubMed:26518474, ECO:0000269 PubMed:26595381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMEM107

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

No data available for Genatlas for TMEM107 Gene

Publications for TMEM107 Gene

  1. TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. (PMID: 26518474) Shylo NA … Weatherbee SD (Human mutation 2016) 2 3 4 54
  2. Identification of a novel MKS locus defined by TMEM107 mutation. (PMID: 26123494) Shaheen R … Alkuraya FS (Human molecular genetics 2015) 2 3 4 54
  3. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. (PMID: 26595381) Lambacher NJ … Blacque OE (Nature cell biology 2016) 3 4 54
  4. Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. (PMID: 22698544) Christopher KJ … Weatherbee SD (Developmental biology 2012) 2 3 54
  5. 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 54

Products for TMEM107 Gene

Sources for TMEM107 Gene