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Aliases for TMEM121 Gene

Aliases for TMEM121 Gene

  • Transmembrane Protein 121 2 3 5
  • HHOLE 4
  • Hole 3

External Ids for TMEM121 Gene

Previous GeneCards Identifiers for TMEM121 Gene

  • GC14P105064
  • GC14P105992
  • GC14P086193

Summaries for TMEM121 Gene

GeneCards Summary for TMEM121 Gene

TMEM121 (Transmembrane Protein 121) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TMEM121 Gene

  • May play a role in MAPK signaling.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM121 Gene

Genomics for TMEM121 Gene

Regulatory Elements for TMEM121 Gene

Enhancers for TMEM121 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
GH14G105192 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.1 -329.6 -329646 7.2 PKNOX1 ATF1 SIN3A ZNF2 ZBTB7B GLIS2 GATA2 ZNF207 FOS ZNF263 BTBD6 TMEM121 PACS2 NUDT14 IGHA2 CRIP2 JAG2 PIR42636
GH14G104665 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.5 -859.5 -859521 2.9 HDGF YBX1 DMAP1 ZBTB7B ZNF302 ZNF207 FOS SP5 ZHX2 ZNF662 ENSG00000257270 XRCC3 TMEM121 RPS20P33 ENSG00000269940 PACS2 LINC00638 ENSG00000256050 INF2 TMEM179
GH14G105682 1.1 ENCODE dbSUPER 20 +158.2 158200 3.5 HDGF PKNOX1 NFIB YBX1 BMI1 ZBTB7B GLIS2 ZNF302 EGR1 ZNF207 TMEM121 ENSG00000257270 PACS2 LINC00638 IGHV3-15 LOC105378185 ENSG00000253701
GH14G105688 1.2 ENCODE dbSUPER 18.1 +164.4 164418 3.5 HDGF NFIB ZNF473 ZNF493 INSM2 PLRG1 YBX1 BMI1 ZBTB7B ZNF354C ENSG00000257270 LINC00638 TMEM121 C14orf79 PACS2 CRIP2 IGHV3-48 IGHV3-15 ENSG00000253701 LOC105378185
GH14G105470 1.3 ENCODE dbSUPER 15.3 -51.7 -51715 8.0 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF2 ZBTB7B YY1 GLIS2 KLF7 TMEM121 ENSG00000258811 ENSG00000257270 LINC02298 C14orf79 LINC00638 CRIP2 CRIP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM121 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM121 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073835 669 1001 CTCF MXI1 SIN3A ZFHX2 GLIS2 ZNF366 POLR2A PATZ1 PRDM10 KLF8
ENSR00000276321 1669 201 SAP130 RBFOX2

Genomic Location for TMEM121 Gene

Chromosome:
14
Start:
105,526,031 bp from pter
End:
105,530,202 bp from pter
Size:
4,172 bases
Orientation:
Plus strand

Genomic View for TMEM121 Gene

Genes around TMEM121 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM121 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM121 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM121 Gene

Proteins for TMEM121 Gene

  • Protein details for TMEM121 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTD3-TM121_HUMAN
    Recommended name:
    Transmembrane protein 121
    Protein Accession:
    Q9BTD3

    Protein attributes for TMEM121 Gene

    Size:
    319 amino acids
    Molecular mass:
    35814 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM121 Gene

Post-translational modifications for TMEM121 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM121 Gene

No data available for DME Specific Peptides for TMEM121 Gene

Domains & Families for TMEM121 Gene

Protein Domains for TMEM121 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM121 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM121: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM121 Gene

Function for TMEM121 Gene

Molecular function for TMEM121 Gene

UniProtKB/Swiss-Prot Function:
May play a role in MAPK signaling.

Gene Ontology (GO) - Molecular Function for TMEM121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM121: view

Phenotypes for TMEM121 Gene

GenomeRNAi human phenotypes for TMEM121:
genes like me logo Genes that share phenotypes with TMEM121: view

Animal Model Products

CRISPR Products

miRNA for TMEM121 Gene

miRTarBase miRNAs that target TMEM121

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM121 Gene

Localization for TMEM121 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM121 Gene

Membrane; Multi-pass membrane protein. Note=May localize to the plasma membrane. {ECO:0000269 PubMed:15950185}.

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 TMEM121 gene
Compartment Confidence
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for TMEM121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM121: view

Pathways & Interactions for TMEM121 Gene

SuperPathways for TMEM121 Gene

No Data Available

Interacting Proteins for TMEM121 Gene

Gene Ontology (GO) - Biological Process for TMEM121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM121: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM121 Gene

Transcripts for TMEM121 Gene

mRNA/cDNA for TMEM121 Gene

Unigene Clusters for TMEM121 Gene

Transmembrane protein 121:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM121 Gene

No ASD Table

Relevant External Links for TMEM121 Gene

GeneLoc Exon Structure for
TMEM121
ECgene alternative splicing isoforms for
TMEM121

Expression for TMEM121 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM121 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM121 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM121 Gene



Protein tissue co-expression partners for TMEM121 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM121 Gene:

TMEM121

SOURCE GeneReport for Unigene cluster for TMEM121 Gene:

Hs.157527

mRNA Expression by UniProt/SwissProt for TMEM121 Gene:

Q9BTD3-TM121_HUMAN
Tissue specificity: Highly expressed in heart and detected in pancreas, liver and skeletal muscle.

Evidence on tissue expression from TISSUES for TMEM121 Gene

  • Muscle(4)
genes like me logo Genes that share expression patterns with TMEM121: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM121 Gene

Orthologs for TMEM121 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM121 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM121 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM121 34 35
  • 95.25 (n)
mouse
(Mus musculus)
Mammalia Tmem121 34 16 35
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Tmem121 34
  • 87.42 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM121 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM121 34 35
  • 76.39 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM121 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem121 34
  • 64.32 (n)
zebrafish
(Danio rerio)
Actinopterygii TMEM121 (1 of 3) 35
  • 76 (a)
OneToMany
TMEM121 (2 of 3) 35
  • 75 (a)
OneToMany
LOC799098 34
  • 72.84 (n)
TMEM121 (3 of 3) 35
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for TMEM121 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 TMEM121 Gene

ENSEMBL:
Gene Tree for TMEM121 (if available)
TreeFam:
Gene Tree for TMEM121 (if available)

Paralogs for TMEM121 Gene

Pseudogenes.org Pseudogenes for TMEM121 Gene

genes like me logo Genes that share paralogs with TMEM121: view

No data available for Paralogs for TMEM121 Gene

Variants for TMEM121 Gene

Sequence variations from dbSNP and Humsavar for TMEM121 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000523499 -- 105,527,710(+) CCTTT(A/G)TCTAG intron-variant
rs1000974534 -- 105,528,044(+) CACCT(C/T)GCCAA intron-variant
rs1001601190 -- 105,528,452(+) GAACG(A/T)GCTCG intron-variant
rs1002340102 -- 105,527,011(+) AGTCT(A/G)TGCCA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1003032367 -- 105,527,260(+) GGCAC(G/T)GCCGG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM121 Gene

Variant ID Type Subtype PubMed ID
dgv1981n100 CNV gain 25217958
dgv1982n100 CNV gain 25217958
dgv3998n54 CNV loss 21841781
esv2673275 CNV deletion 23128226
esv27023 CNV gain+loss 19812545
esv29981 CNV gain 17803354
nsv1054190 CNV gain 25217958
nsv1131079 CNV deletion 24896259
nsv1441 CNV insertion 18451855
nsv470679 CNV loss 18288195
nsv517055 CNV gain+loss 19592680
nsv566206 CNV loss 21841781
nsv566271 CNV loss 21841781
nsv566272 CNV loss 21841781
nsv952283 CNV deletion 24416366
nsv983972 CNV duplication 23825009

Variation tolerance for TMEM121 Gene

Gene Damage Index Score: 0.56; 12.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM121 Gene

Human Gene Mutation Database (HGMD)
TMEM121
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM121

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM121 Gene

Disorders for TMEM121 Gene

Relevant External Links for TMEM121

Human Genome Epidemiology (HuGE) Navigator
TMEM121
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM121

No disorders were found for TMEM121 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM121 Gene

Publications for TMEM121 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 64
  2. Hole is a novel gene product expressed in the developing heart and brain. (PMID: 12204283) Nesset A.L. … Bader D.M. (Mech. Dev. 2002) 2 3 64
  3. Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease. (PMID: 20714865) Zhang Y. … Wang J. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2010) 3 64
  4. A novel six-transmembrane protein hhole functions as a suppressor in MAPK signaling pathways. (PMID: 15950185) Zhou J. … Liu M. (Biochem. Biophys. Res. Commun. 2005) 4 64
  5. 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) 3 64

Products for TMEM121 Gene

Sources for TMEM121 Gene

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