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Aliases for TMEM121B Gene

Aliases for TMEM121B Gene

  • Transmembrane Protein 121B 2 3 5
  • Cat Eye Syndrome Chromosome Region, Candidate 6 2 3
  • CECR6 3 4
  • Cat Eye Syndrome Critical Region Protein 6 3

External Ids for TMEM121B Gene

Previous HGNC Symbols for TMEM121B Gene

  • CECR6

Summaries for TMEM121B Gene

GeneCards Summary for TMEM121B Gene

TMEM121B (Transmembrane Protein 121B) is a Protein Coding gene. Diseases associated with TMEM121B include Cat Eye Syndrome.

Additional gene information for TMEM121B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM121B Gene

Genomics for TMEM121B Gene

Regulatory Elements for TMEM121B Gene

Enhancers for TMEM121B 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
GH22H017074 1.3 Ensembl ENCODE dbSUPER 11.6 +45.9 45942 1 CTCF ARNT KLF17 ZNF384 RAD21 HIC1 ZFHX2 ZNF316 SCRT2 SMC3 CECR7 LINC01664 TMEM121B ADA2 CECR3 ENSG00000273442 ENSG00000273203
GH22H017157 1 ENCODE 12.1 -37.7 -37733 2 PKNOX1 ATF1 SIN3A ZNF2 YY1 ETS1 ZNF766 GLIS2 ZNF207 ZNF143 LINC01664 TMEM121B HDHD5 HDHD5-AS1 GC22P017137
GH22H017115 0.8 ENCODE dbSUPER 12.1 +4.2 4169 3 PKNOX1 REST ZIC2 ZNF2 SPI1 TMEM121B IL17RA GC22P017113
GH22H017077 0.7 ENCODE dbSUPER 11.7 +43.9 43852 0 TBP FOS TMEM121B LINC01664 ADA2 CECR3 ENSG00000273442 ENSG00000273203
GH22H017090 0.6 dbSUPER 12.8 +29.1 29098 4 ZNF316 MAFG HNF4A ATF7 EMSY ATF2 MAFK NR2F2 LINC01664 TMEM121B CECR7 ADA2 CECR3 IL17RA TPTEP1 ENSG00000236890 RPL31P62
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM121B on UCSC Golden Path with GeneCards custom track

Promoters for TMEM121B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143502 267 1001 ZSCAN4 ZNF76 KLF17 SIN3A GLI4 GLIS2 ZNF366 ZNF143 EGR2 SP3

Genomic Location for TMEM121B Gene

Chromosome:
22
Start:
17,116,299 bp from pter
End:
17,121,367 bp from pter
Size:
5,069 bases
Orientation:
Minus strand

Genomic View for TMEM121B Gene

Genes around TMEM121B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM121B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM121B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM121B Gene

Proteins for TMEM121B Gene

  • Protein details for TMEM121B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXQ6-CECR6_HUMAN
    Recommended name:
    Cat eye syndrome critical region protein 6
    Protein Accession:
    Q9BXQ6
    Secondary Accessions:
    • A8MYY1

    Protein attributes for TMEM121B Gene

    Size:
    578 amino acids
    Molecular mass:
    58425 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

    Alternative splice isoforms for TMEM121B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM121B Gene

Post-translational modifications for TMEM121B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM121B Gene

No data available for DME Specific Peptides for TMEM121B Gene

Domains & Families for TMEM121B Gene

Gene Families for TMEM121B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM121B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM121B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM121B: view

No data available for UniProtKB/Swiss-Prot for TMEM121B Gene

Function for TMEM121B Gene

Phenotypes From GWAS Catalog for TMEM121B Gene

genes like me logo Genes that share phenotypes with TMEM121B: view

Animal Model Products

CRISPR Products

miRNA for TMEM121B Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM121B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 TMEM121B Gene

Localization for TMEM121B Gene

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 TMEM121B gene
Compartment Confidence
plasma membrane 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TMEM121B Gene

Pathways & Interactions for TMEM121B Gene

SuperPathways for TMEM121B Gene

No Data Available

Interacting Proteins for TMEM121B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000329318%0d%0a9606.ENSP00000356234%0d%0a
Selected Interacting proteins: Q9BXQ6-CECR6_HUMAN ENSP00000329318 for TMEM121B Gene via IID STRING

Gene Ontology (GO) - Biological Process for TMEM121B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM121B Gene

Drugs & Compounds for TMEM121B Gene

No Compound Related Data Available

Transcripts for TMEM121B Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM121B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM121B Gene

No ASD Table

Relevant External Links for TMEM121B Gene

GeneLoc Exon Structure for
TMEM121B
ECgene alternative splicing isoforms for
TMEM121B

Expression for TMEM121B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM121B Gene:

TMEM121B

mRNA Expression by UniProt/SwissProt for TMEM121B Gene:

Q9BXQ6-CECR6_HUMAN
Tissue specificity: Widely expressed, especially in adult heart, brain, prostate, testes, peripherical blood leukocytes and fetal brain.

Primer Products

No data available for mRNA expression in normal human tissues , 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM121B Gene

Orthologs for TMEM121B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM121B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CECR6 33 34
  • 99.55 (n)
rat
(Rattus norvegicus)
Mammalia Cecr6 33
  • 87.74 (n)
dog
(Canis familiaris)
Mammalia CECR6 33 34
  • 87.17 (n)
mouse
(Mus musculus)
Mammalia Cecr6 33 16 34
  • 86.01 (n)
cow
(Bos Taurus)
Mammalia CECR6 33
  • 81.86 (n)
oppossum
(Monodelphis domestica)
Mammalia CECR6 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CECR6 33 34
  • 74.66 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr6 33
  • 60.61 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC796113 33
  • 58.2 (n)
CECR6 34
  • 44 (a)
OneToOne
Species where no ortholog for TMEM121B 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 TMEM121B Gene

ENSEMBL:
Gene Tree for TMEM121B (if available)
TreeFam:
Gene Tree for TMEM121B (if available)

Paralogs for TMEM121B Gene

No data available for Paralogs for TMEM121B Gene

Variants for TMEM121B Gene

Sequence variations from dbSNP and Humsavar for TMEM121B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1001502200 -- 17,123,311(+) GGGCA(A/G)CAAGA intron-variant, upstream-variant-2KB
rs1002541299 -- 17,121,588(+) GGCGC(A/G)GGCAG upstream-variant-2KB
rs1003135404 -- 17,120,378(+) CGGCC(C/T)CGGCT intron-variant, upstream-variant-2KB, reference, synonymous-codon
rs1003514001 -- 17,120,640(+) CGCTG(C/T)CGGTC intron-variant, upstream-variant-2KB, reference, missense
rs1004092343 -- 17,119,299(+) TTCCA(A/T)ATAGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM121B Gene

Variant ID Type Subtype PubMed ID
dgv4460n100 CNV gain 25217958
esv3647204 CNV gain 21293372
esv3647208 CNV gain 21293372
nsv1064641 CNV gain 25217958
nsv1067241 CNV loss 25217958
nsv1126618 CNV deletion 24896259
nsv509805 CNV insertion 20534489
nsv828923 CNV gain 20364138
nsv828924 CNV gain 20364138

Variation tolerance for TMEM121B Gene

Gene Damage Index Score: 2.77; 47.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM121B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM121B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM121B Gene

Disorders for TMEM121B Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM121B Gene - From: GeneCards

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM121B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM121B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM121B
genes like me logo Genes that share disorders with TMEM121B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM121B Gene

Publications for TMEM121B Gene

  1. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PMID: 11381032) Footz TK … McDermid HE (Genome research 2001) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. (PMID: 25130324) Cai DC … Hagoort P (Genes, brain, and behavior 2014) 3 60
  4. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S … Seielstad M (Genes and immunity 2010) 3 60
  5. The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. (PMID: 19336002) Zhou W … Zhang L (BMB reports 2009) 3 60

Products for TMEM121B Gene

Sources for TMEM121B Gene

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