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Aliases for TMEM130 Gene

Aliases for TMEM130 Gene

  • Transmembrane Protein 130 2 3 5

External Ids for TMEM130 Gene

Previous GeneCards Identifiers for TMEM130 Gene

  • GC07M098282
  • GC07M098444
  • GC07M093077

Summaries for TMEM130 Gene

GeneCards Summary for TMEM130 Gene

TMEM130 (Transmembrane Protein 130) is a Protein Coding gene.

Gene Wiki entry for TMEM130 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM130 Gene

Genomics for TMEM130 Gene

Regulatory Elements for TMEM130 Gene

Enhancers for TMEM130 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
GH07F098470 1.4 FANTOM5 Ensembl ENCODE 1.5 +400.1 400060 1.2 ZFP64 ZNF202 ZNF680 ZNF280D REST ZNF518A ZNF623 ZNF781 SP1 TFDP1 TRRAP ENSG00000231859 LOC100419643 LOC101927550 LOC100131859 RPS3AP26 SMURF1 NPTX2 BAIAP2L1 ENSG00000272950
GH07F098867 0.8 Ensembl ENCODE 0.8 +3.2 3226 0.8 SCRT1 MAZ RFX1 POLR2A REST TMEM130 RNU6-393P GC07M098795
GH07F098870 0.8 ENCODE 0.8 +0.3 349 0.2 KLF1 KLF17 EBF1 ZIC2 GLIS2 ZBTB48 PATZ1 KLF8 ZNF263 SP3 TMEM130 GC07M098795 RNU6-393P
GH07F098841 1.1 Ensembl ENCODE 0.3 +29.2 29158 1.2 FEZF1 ZNF2 RAD21 RFX5 ZNF121 ZNF366 SCRT2 ZNF143 FOS RCOR1 NPTX2 BAIAP2L1 TMEM130 RNU6-393P GC07M098795
GH07F098838 0.9 ENCODE 0.3 +33.2 33219 0.2 PKNOX1 KLF17 FEZF1 ZNF2 ZNF121 GLIS2 ZNF366 EGR2 ZNF263 OVOL3 TMEM130 GC07M098795 RNU6-393P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM130 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM130 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001894410 471 1001 BCOR KLF1 SUZ12 KLF17 EBF1 ZIC2 ZNF121 ZFHX2 GLIS2 ZBTB48

Genomic Location for TMEM130 Gene

Chromosome:
7
Start:
98,846,488 bp from pter
End:
98,870,771 bp from pter
Size:
24,284 bases
Orientation:
Minus strand

Genomic View for TMEM130 Gene

Genes around TMEM130 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM130 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM130 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM130 Gene

Proteins for TMEM130 Gene

  • Protein details for TMEM130 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3G9-TM130_HUMAN
    Recommended name:
    Transmembrane protein 130
    Protein Accession:
    Q8N3G9
    Secondary Accessions:
    • A4D266
    • B7Z364
    • Q8IY46
    • Q8N0W9
    • Q8N3R2

    Protein attributes for TMEM130 Gene

    Size:
    435 amino acids
    Molecular mass:
    48329 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM130 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM130 Gene

Post-translational modifications for TMEM130 Gene

  • Glycosylation at Asn 34, Asn 197, and Asn 300
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM130 Gene

No data available for DME Specific Peptides for TMEM130 Gene

Domains & Families for TMEM130 Gene

Protein Domains for TMEM130 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM130 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N3G9

UniProtKB/Swiss-Prot:

TM130_HUMAN :
  • Contains 1 PKD domain.
Domain:
  • Contains 1 PKD domain.
genes like me logo Genes that share domains with TMEM130: view

No data available for Gene Families for TMEM130 Gene

Function for TMEM130 Gene

genes like me logo Genes that share phenotypes with TMEM130: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM130

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM130 Gene

Localization for TMEM130 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM130 Gene

Golgi apparatus membrane; Single-pass type I 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 TMEM130 gene
Compartment Confidence
plasma membrane 4
golgi apparatus 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMEM130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM130: view

Pathways & Interactions for TMEM130 Gene

SuperPathways for TMEM130 Gene

No Data Available

Interacting Proteins for TMEM130 Gene

Gene Ontology (GO) - Biological Process for TMEM130 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM130 Gene

Transcripts for TMEM130 Gene

Unigene Clusters for TMEM130 Gene

Transmembrane protein 130:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM130 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9
SP1:
SP2: - - - -
SP3:
SP4: - -
SP5: - - - - -
SP6: -
SP7:

Relevant External Links for TMEM130 Gene

GeneLoc Exon Structure for
TMEM130
ECgene alternative splicing isoforms for
TMEM130

Expression for TMEM130 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM130 Gene

mRNA differential expression in normal tissues according to GTEx for TMEM130 Gene

This gene is overexpressed in Brain - Cortex (x5.6), Brain - Hypothalamus (x5.5), Brain - Frontal Cortex (BA9) (x5.4), Brain - Anterior cingulate cortex (BA24) (x5.2), and Brain - Nucleus accumbens (basal ganglia) (x4.5).

Protein differential expression in normal tissues from HIPED for TMEM130 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM130 Gene



Protein tissue co-expression partners for TMEM130 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM130 Gene:

TMEM130

SOURCE GeneReport for Unigene cluster for TMEM130 Gene:

Hs.270753
genes like me logo Genes that share expression patterns with TMEM130: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TMEM130 Gene

Orthologs for TMEM130 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM130 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM130 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia TMEM130 34 35
  • 87.2 (n)
cow
(Bos Taurus)
Mammalia TMEM130 34 35
  • 86.92 (n)
rat
(Rattus norvegicus)
Mammalia Tmem130 34
  • 77.88 (n)
mouse
(Mus musculus)
Mammalia Tmem130 34 16 35
  • 75.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM130 35
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM130 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM130 34 35
  • 58.09 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem130 34
  • 52.14 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem130 35
  • 26 (a)
OneToOne
Species where no ortholog for TMEM130 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 TMEM130 Gene

ENSEMBL:
Gene Tree for TMEM130 (if available)
TreeFam:
Gene Tree for TMEM130 (if available)

Paralogs for TMEM130 Gene

No data available for Paralogs for TMEM130 Gene

Variants for TMEM130 Gene

Sequence variations from dbSNP and Humsavar for TMEM130 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10229921 -- 98,861,262(+) gaatc(C/T)gggag intron-variant
rs10238224 -- 98,863,201(+) CCGAC(A/C)ACACG intron-variant, reference, synonymous-codon
rs10280678 -- 98,859,367(+) GTTGG(C/T)TGGGT intron-variant
rs1047035 -- 98,846,664(+) GGCTC(C/T)GGCTA utr-variant-3-prime
rs111281487 -- 98,855,897(+) CTCCT(C/G)AGAGG intron-variant

Variation tolerance for TMEM130 Gene

Residual Variation Intolerance Score: 45.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM130 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM130

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TMEM130 Gene

Disorders for TMEM130 Gene

Relevant External Links for TMEM130

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM130

No disorders were found for TMEM130 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM130 Gene

Publications for TMEM130 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  2. 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 64
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PMID: 11256614) Simpson J.C. … Wiemann S. (EMBO Rep. 2000) 3 4 64
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64

Products for TMEM130 Gene

Sources for TMEM130 Gene

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