The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus ... See more...

Aliases for TM4SF19 Gene

Aliases for TM4SF19 Gene

  • Transmembrane 4 L Six Family Member 19 2 3 5
  • Osteoclast Maturation-Associated Gene 4 Protein 3 4
  • Transmembrane 4 L6 Family Member 19 3 4
  • Tetraspan Membrane Protein OCTM4 3 4
  • OCTM4 3 4
  • TM4SF19 5

External Ids for TM4SF19 Gene

Previous GeneCards Identifiers for TM4SF19 Gene

  • GC03M197508
  • GC03M197531
  • GC03M196042
  • GC03M193348
  • GC03M196049

Summaries for TM4SF19 Gene

Entrez Gene Summary for TM4SF19 Gene

  • The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]

GeneCards Summary for TM4SF19 Gene

TM4SF19 (Transmembrane 4 L Six Family Member 19) is a Protein Coding gene. An important paralog of this gene is TM4SF19-TCTEX1D2.

Additional gene information for TM4SF19 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TM4SF19 Gene

Genomics for TM4SF19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TM4SF19 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 TM4SF19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TM4SF19

Top Transcription factor binding sites by QIAGEN in the TM4SF19 gene promoter:
  • C/EBPalpha
  • C/EBPbeta
  • CHOP-10
  • HSF1 (long)
  • HSF1short
  • MyoD
  • Pbx1a
  • POU2F1
  • POU2F1a
  • RORalpha1

Genomic Locations for TM4SF19 Gene

Genomic Locations for TM4SF19 Gene
chr3:196,319,342-196,338,503
(GRCh38/hg38)
Size:
19,162 bases
Orientation:
Minus strand
chr3:196,046,213-196,065,374
(GRCh37/hg19)
Size:
19,162 bases
Orientation:
Minus strand

Genomic View for TM4SF19 Gene

Genes around TM4SF19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM4SF19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM4SF19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM4SF19 Gene

Proteins for TM4SF19 Gene

  • Protein details for TM4SF19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DZ7-T4S19_HUMAN
    Recommended name:
    Transmembrane 4 L6 family member 19
    Protein Accession:
    Q96DZ7
    Secondary Accessions:
    • B2RV20
    • E9PH22
    • Q336K7

    Protein attributes for TM4SF19 Gene

    Size:
    209 amino acids
    Molecular mass:
    22433 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TM4SF19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TM4SF19 Gene

Post-translational modifications for TM4SF19 Gene

  • Glycosylation at Asn133
  • Modification sites at PhosphoSitePlus

Other Protein References for TM4SF19 Gene

No data available for DME Specific Peptides for TM4SF19 Gene

Domains & Families for TM4SF19 Gene

Gene Families for TM4SF19 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TM4SF19 Gene

InterPro:
Blocks:
  • L6 membrane
ProtoNet:

Suggested Antigen Peptide Sequences for TM4SF19 Gene

GenScript: Design optimal peptide antigens:
  • TM4SF19 protein (B7ZW46_HUMAN)
  • Tetraspan membrane protein OCTM4 (T4S19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96DZ7

UniProtKB/Swiss-Prot:

T4S19_HUMAN :
  • Belongs to the L6 tetraspanin family.
Family:
  • Belongs to the L6 tetraspanin family.
genes like me logo Genes that share domains with TM4SF19: view

Function for TM4SF19 Gene

Phenotypes From GWAS Catalog for TM4SF19 Gene

genes like me logo Genes that share phenotypes with TM4SF19: view

Animal Model Products

CRISPR Products

miRNA for TM4SF19 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TM4SF19

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 TM4SF19 Gene

Localization for TM4SF19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM4SF19 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 TM4SF19 gene
Compartment Confidence
plasma membrane 3
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TM4SF19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with TM4SF19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TM4SF19 Gene

Pathways & Interactions for TM4SF19 Gene

PathCards logo

SuperPathways for TM4SF19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM4SF19 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TM4SF19 Gene

Drugs & Compounds for TM4SF19 Gene

No Compound Related Data Available

Transcripts for TM4SF19 Gene

mRNA/cDNA for TM4SF19 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 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 TM4SF19

Alternative Splicing Database (ASD) splice patterns (SP) for TM4SF19 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - -
SP3:
SP4: -
SP5: -
SP6:

Relevant External Links for TM4SF19 Gene

GeneLoc Exon Structure for
TM4SF19

Expression for TM4SF19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TM4SF19 Gene

mRNA differential expression in normal tissues according to GTEx for TM4SF19 Gene

This gene is overexpressed in Adipose - Subcutaneous (x8.0), Testis (x7.4), Minor Salivary Gland (x5.0), and Esophagus - Mucosa (x4.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TM4SF19

SOURCE GeneReport for Unigene cluster for TM4SF19 Gene:

Hs.733264

Evidence on tissue expression from TISSUES for TM4SF19 Gene

  • Bone(4)
genes like me logo Genes that share expression patterns with TM4SF19: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TM4SF19 Gene

Orthologs for TM4SF19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TM4SF19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TM4SF19 30
  • 99.68 (n)
-- 31
  • 99 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia TM4SF19 30
  • 88.46 (n)
-- 31
  • 83 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia TM4SF19 30
  • 86.44 (n)
-- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Tm4sf19 30 17 31
  • 83.93 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Tm4sf19 30
  • 81.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 65 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 44 (a)
OneToMany
Chicken
(Gallus gallus)
Aves TM4SF19 31
  • 36 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 45 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii LOC101885866 30
  • 47.93 (n)
zgc:172079 31
  • 29 (a)
ManyToMany
CABZ01033205.2 31
  • 28 (a)
ManyToMany
Species where no ortholog for TM4SF19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TM4SF19 Gene

ENSEMBL:
Gene Tree for TM4SF19 (if available)
TreeFam:
Gene Tree for TM4SF19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TM4SF19: view image

Paralogs for TM4SF19 Gene

Paralogs for TM4SF19 Gene

(29) SIMAP similar genes for TM4SF19 Gene using alignment to 5 proteins:

  • T4S19_HUMAN
  • B7ZW46_HUMAN
  • C9JCD5_HUMAN
  • H7C405_HUMAN
  • Q05DG1_HUMAN
genes like me logo Genes that share paralogs with TM4SF19: view

Variants for TM4SF19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TM4SF19 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs147419407 Uncertain Significance: not specified 196,327,503(-) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs35643777 - p.Val162Ile
rs6785339 - p.Gln8Pro

Additional dbSNP identifiers (rs#s) for TM4SF19 Gene

Structural Variations from Database of Genomic Variants (DGV) for TM4SF19 Gene

Variant ID Type Subtype PubMed ID
dgv8849n54 CNV gain 21841781
esv1444129 CNV insertion 17803354
esv2370851 CNV deletion 18987734
esv26108 CNV gain 19812545
esv2677485 CNV deletion 23128226
esv2759213 CNV gain+loss 17122850
esv3563177 CNV deletion 23714750
esv3599281 CNV loss 21293372
esv4542 CNV loss 18987735
nsv1009811 CNV gain 25217958
nsv1074120 CNV deletion 25765185
nsv1136374 CNV deletion 24896259
nsv4183 CNV deletion 18451855
nsv509878 OTHER sequence alteration 20534489
nsv513108 CNV loss 21212237
nsv593071 CNV gain 21841781
nsv593079 CNV loss 21841781
nsv593082 CNV gain+loss 21841781
nsv593083 CNV gain 21841781
nsv593084 CNV gain 21841781
nsv593085 CNV gain+loss 21841781
nsv950311 CNV deletion 24416366
nsv997797 CNV gain 25217958

Variation tolerance for TM4SF19 Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TM4SF19 Gene

Human Gene Mutation Database (HGMD)
TM4SF19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM4SF19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM4SF19 Gene

Disorders for TM4SF19 Gene

Additional Disease Information for TM4SF19

No disorders were found for TM4SF19 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM4SF19 Gene

Publications for TM4SF19 Gene

  1. 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
  2. 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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for TM4SF19 Gene

  • Signalway ELISA kits for TM4SF19

Sources for TM4SF19 Gene