Aliases for TMEM249 Gene

Aliases for TMEM249 Gene

  • Transmembrane Protein 249 2 3 4 5
  • C8orfK29 2 4
  • Putative Transmembrane Protein C8orfK29 3
  • C8ORFK29 3
  • TMEM249 5

External Ids for TMEM249 Gene

Previous GeneCards Identifiers for TMEM249 Gene

  • GC08M145577

Summaries for TMEM249 Gene

GeneCards Summary for TMEM249 Gene

TMEM249 (Transmembrane Protein 249) is a Protein Coding gene. Diseases associated with TMEM249 include Epidermolysis Bullosa Simplex With Nail Dystrophy.

Additional gene information for TMEM249 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM249 Gene

Genomics for TMEM249 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM249 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J144354 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.7 +1.1 1058 0.9 HNRNPL EGR1 POLR2A KLF4 SIN3A CTCF KLF9 ZNF687 VEZF1 ZBTB33 ENSG00000271698 SLC52A2 TMEM249 CPSF1
GH08J144353 Enhancer 0.4 ENCODE 600.7 +1.6 1556 0.1 KLF4 ZBTB33 EZH2 ENSG00000271698 SLC52A2 TMEM249 SCRT1
GH08J143634 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.6 +719.6 719608 3.2 GATAD2A PRDM10 ZNF629 LEF1 ZNF692 POLR2A BACH1 TARDBP FOXA1 LARP7 ZNF623 ENSG00000254812 LOC105375798 CPSF1 VPS28 NAPRT LRRC14 ZNF707 JRK ADCK5
GH08J144319 Enhancer 1 Ensembl ENCODE dbSUPER 4.7 +35.8 35782 2.9 HNRNPL PRDM10 ZIC2 RBFOX2 HDAC1 CEBPB MGA POLR2A MNT RBM22 BOP1 TMEM249 lnc-SCRT1-1 DGAT1 HSF1
GH08J144620 Enhancer 0.7 FANTOM5 Ensembl ENCODE 4.2 -266.8 -266805 3.6 ZIC2 ZNF34 SLC39A4 TMEM249 SCRT1 ARHGAP39 KIFC2 ENSG00000255456 piR-36588-446 C8orf82
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM249 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM249

Genomic Locations for TMEM249 Gene

Genomic Locations for TMEM249 Gene
chr8:144,352,219-144,355,609
(GRCh38/hg38)
Size:
3,391 bases
Orientation:
Minus strand
chr8:145,575,878-145,578,574
(GRCh37/hg19)
Size:
2,697 bases
Orientation:
Minus strand

Genomic View for TMEM249 Gene

Genes around TMEM249 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM249 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM249 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM249 Gene

Proteins for TMEM249 Gene

  • Protein details for TMEM249 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2WGJ8-TM249_HUMAN
    Recommended name:
    Transmembrane protein 249
    Protein Accession:
    Q2WGJ8

    Protein attributes for TMEM249 Gene

    Size:
    235 amino acids
    Molecular mass:
    27046 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM249 Gene

Post-translational modifications for TMEM249 Gene

  • Glycosylation at Asn38 and Asn115

Other Protein References for TMEM249 Gene

No data available for DME Specific Peptides for TMEM249 Gene

Domains & Families for TMEM249 Gene

Gene Families for TMEM249 Gene

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

Protein Domains for TMEM249 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM249 Gene

GenScript: Design optimal peptide antigens:
  • Putative transmembrane protein C8orfK29 (CHK29_HUMAN)
genes like me logo Genes that share domains with TMEM249: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM249 Gene

Function for TMEM249 Gene

Phenotypes for TMEM249 Gene

genes like me logo Genes that share phenotypes with TMEM249: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM249 Gene

Localization for TMEM249 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM249 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 TMEM249 gene
Compartment Confidence
plasma membrane 2
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
extracellular 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for TMEM249 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM249: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM249 Gene

Pathways & Interactions for TMEM249 Gene

PathCards logo

SuperPathways for TMEM249 Gene

No Data Available

Interacting Proteins for TMEM249 Gene

Gene Ontology (GO) - Biological Process for TMEM249 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM249 Gene

Drugs & Compounds for TMEM249 Gene

No Compound Related Data Available

Transcripts for TMEM249 Gene

mRNA/cDNA for TMEM249 Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM249

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM249 Gene

No ASD Table

Relevant External Links for TMEM249 Gene

GeneLoc Exon Structure for
TMEM249

Expression for TMEM249 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM249 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM249

SOURCE GeneReport for Unigene cluster for TMEM249 Gene:

Hs.122231

Evidence on tissue expression from TISSUES for TMEM249 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TMEM249: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 TMEM249 Gene

Orthologs for TMEM249 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TMEM249 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM249 30
  • 98.21 (n)
Cow
(Bos Taurus)
Mammalia TMEM249 30
  • 85.42 (n)
Dog
(Canis familiaris)
Mammalia TMEM249 30
  • 81.83 (n)
Mouse
(Mus musculus)
Mammalia Gm8140 30
  • 75.77 (n)
Tmem249 17
Rat
(Rattus norvegicus)
Mammalia Tmem249 30
  • 73.3 (n)
Species where no ortholog for TMEM249 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for TMEM249 Gene

ENSEMBL:
Gene Tree for TMEM249 (if available)
TreeFam:
Gene Tree for TMEM249 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM249: view image

Paralogs for TMEM249 Gene

No data available for Paralogs for TMEM249 Gene

Variants for TMEM249 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM249 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
870143 Uncertain Significance: Epidermolysis bullosa simplex with nail dystrophy 144,354,670(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for TMEM249 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM249 Gene

Variant ID Type Subtype PubMed ID
dgv12434n54 CNV loss 21841781
dgv12437n54 CNV loss 21841781
esv2664345 CNV deletion 23128226
esv2759652 CNV gain+loss 17122850
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612931 CNV loss 21841781
nsv831489 CNV loss 17160897

Variation tolerance for TMEM249 Gene

Gene Damage Index Score: 1.58; 30.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM249 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM249

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM249 Gene

Disorders for TMEM249 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM249 Gene - From: GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa simplex with nail dystrophy
  • ebsnd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TMEM249: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM249 Gene

Publications for TMEM249 Gene

  1. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 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) 3

Products for TMEM249 Gene

Sources for TMEM249 Gene