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Aliases for TMEM102 Gene

Aliases for TMEM102 Gene

  • Transmembrane Protein 102 2 3 5
  • Common Beta-Chain Associated Protein 3 4
  • CBAP 3 4
  • Common Beta-Chain-Associated Protein 2

External Ids for TMEM102 Gene

Previous GeneCards Identifiers for TMEM102 Gene

  • GC17P007280
  • GC17P007338
  • GC17P007232
  • GC17P007447
  • GC17P007460
  • GC17P007473
  • GC17P007509
  • GC17P007620

Summaries for TMEM102 Gene

GeneCards Summary for TMEM102 Gene

TMEM102 (Transmembrane Protein 102) is a Protein Coding gene. Diseases associated with TMEM102 include Bile Acid Synthesis Defect, Congenital, 2. An important paralog of this gene is MB21D2.

UniProtKB/Swiss-Prot for TMEM102 Gene

  • Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM102 Gene

Genomics for TMEM102 Gene

Regulatory Elements for TMEM102 Gene

Enhancers for TMEM102 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
GH17G007474 1.8 FANTOM5 ENCODE dbSUPER 11.7 +51.8 51765 12.5 CREB3L1 AGO1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DVL2 CHRNB1 SNORD10 PFAS SNORA48 KCTD11 NEURL4 CTC1 CD68 FGF11
GH17G007465 1.3 Ensembl ENCODE dbSUPER 11.9 +38.2 38203 2.2 HDAC1 ESRRA ZNF175 BCL11B YY1 HIC1 POLR2A NCOR1 RCOR1 NR2F6 CHRNB1 FGF11 TMEM102 C17orf74 SPEM1 TNFSF12-TNFSF13 TNFSF12 TMEM256 NLGN2 PLSCR3
GH17G007312 1.4 ENCODE dbSUPER 9.7 -114.3 -114281 4.0 HDGF PKNOX1 MLX ARNT CREB3L1 AGO1 ZFP64 ARID4B SIN3A FEZF1 EIF5A ACAP1 SLC2A4 ENSG00000202251 CLDN7 CTDNEP1 ELP5 PHF23 GABARAP DVL2
GH17G007472 1 Ensembl dbSUPER 11.8 +43.3 43276 0.2 ZFP64 ZNF140 ZNF266 ZNF101 ZNF697 ZNF433 ZNF202 ZBTB11 ZNF426 ZBTB8A NLGN2 ENSG00000265749 DVL2 CHRNB1 FGF11 TMEM102 C17orf74 SPEM1 MIR497HG TMEM256
GH17G007401 1.1 ENCODE 10.7 -24.7 -24700 4.8 HNRNPUL1 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 DVL2 PFAS SNORD10 CNTROB CTC1 SNORA48 ENSG00000262089 ENSG00000265749 C17orf74 CHRNB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM102 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM102 Gene

Chromosome:
17
Start:
7,428,825 bp from pter
End:
7,437,679 bp from pter
Size:
8,855 bases
Orientation:
Plus strand

Genomic View for TMEM102 Gene

Genes around TMEM102 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM102 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM102 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM102 Gene

Proteins for TMEM102 Gene

  • Protein details for TMEM102 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9M5-TM102_HUMAN
    Recommended name:
    Transmembrane protein 102
    Protein Accession:
    Q8N9M5
    Secondary Accessions:
    • D3DTP8

    Protein attributes for TMEM102 Gene

    Size:
    508 amino acids
    Molecular mass:
    54175 Da
    Quaternary structure:
    • Interacts with CSF2RB; this interaction occurs preferentially in the absence of CSF2.

neXtProt entry for TMEM102 Gene

Post-translational modifications for TMEM102 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM102 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM102 Gene

Domains & Families for TMEM102 Gene

Protein Domains for TMEM102 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM102 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM102: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM102 Gene

Function for TMEM102 Gene

Molecular function for TMEM102 Gene

UniProtKB/Swiss-Prot Function:
Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway.

Gene Ontology (GO) - Molecular Function for TMEM102 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17828305
genes like me logo Genes that share ontologies with TMEM102: view

Phenotypes for TMEM102 Gene

genes like me logo Genes that share phenotypes with TMEM102: view

Animal Model Products

CRISPR Products

miRNA for TMEM102 Gene

miRTarBase miRNAs that target TMEM102

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM102 Gene

Localization for TMEM102 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM102 Gene

Cell membrane; Single-pass membrane protein. Note=Although it is found at the cell surface, the majority of the molecules seems to be located in intracellular compartments.

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 TMEM102 gene
Compartment Confidence
plasma membrane 4
mitochondrion 3
extracellular 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TMEM102 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 17828305
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IDA 17828305
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TMEM102: view

Pathways & Interactions for TMEM102 Gene

SuperPathways for TMEM102 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM102 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IDA 17828305
GO:0010820 positive regulation of T cell chemotaxis IEA --
GO:0034097 response to cytokine IDA 17828305
GO:0042981 regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with TMEM102: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM102 Gene

Drugs & Compounds for TMEM102 Gene

No Compound Related Data Available

Transcripts for TMEM102 Gene

mRNA/cDNA for TMEM102 Gene

Unigene Clusters for TMEM102 Gene

Transmembrane protein 102:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM102 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for TMEM102 Gene

GeneLoc Exon Structure for
TMEM102
ECgene alternative splicing isoforms for
TMEM102

Expression for TMEM102 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM102 Gene

Protein differential expression in normal tissues from HIPED for TMEM102 Gene

This gene is overexpressed in Bone (41.4), Pancreas (8.8), and Platelet (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM102 Gene



Protein tissue co-expression partners for TMEM102 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM102 Gene:

TMEM102

SOURCE GeneReport for Unigene cluster for TMEM102 Gene:

Hs.655662

Evidence on tissue expression from TISSUES for TMEM102 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with TMEM102: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM102 Gene

Orthologs for TMEM102 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM102 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM102 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia TMEM102 34 35
  • 85.55 (n)
dog
(Canis familiaris)
Mammalia TMEM102 34 35
  • 85.07 (n)
rat
(Rattus norvegicus)
Mammalia Tmem102 34
  • 80.58 (n)
mouse
(Mus musculus)
Mammalia Tmem102 34 16 35
  • 80.4 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM102 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM102 35
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii TMEM102 35
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9655 35
  • 27 (a)
ManyToMany
-- 35
  • 18 (a)
ManyToMany
Species where no ortholog for TMEM102 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM102 Gene

ENSEMBL:
Gene Tree for TMEM102 (if available)
TreeFam:
Gene Tree for TMEM102 (if available)

Paralogs for TMEM102 Gene

Paralogs for TMEM102 Gene

genes like me logo Genes that share paralogs with TMEM102: view

Variants for TMEM102 Gene

Sequence variations from dbSNP and Humsavar for TMEM102 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000521398 -- 7,433,489(+) GCAAG(C/T)GATTC upstream-variant-2KB
rs1001646359 -- 7,436,543(+) CAAAG(C/T)TCTGT upstream-variant-2KB, reference, synonymous-codon
rs1003228713 -- 7,433,828(+) TATTC(C/G)TTGTC upstream-variant-2KB
rs1004024128 -- 7,437,493(+) GGGGG(A/G)CGGGG upstream-variant-2KB, reference, missense
rs1004116358 -- 7,434,321(+) TGGCG(C/T)GTGCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TMEM102 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
nsv457659 CNV loss 19166990
nsv523672 CNV loss 19592680
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

Variation tolerance for TMEM102 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM102 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM102

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM102 Gene

Disorders for TMEM102 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM102 Gene - From: GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 2
  • congenital bile acid synthesis defect 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM102

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM102
genes like me logo Genes that share disorders with TMEM102: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM102 Gene

Publications for TMEM102 Gene

  1. CBAP functions as a novel component in chemokine-induced ZAP70-mediated T-cell adhesion and migration. (PMID: 23620790) Chiang Y.J. … Yen J.J. (PLoS ONE 2013) 2 3 64
  2. CBAP interacts with the un-liganded common beta-subunit of the GM- CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial dysfunction. (PMID: 17828305) Kao C.J. … Yen J.J. (Oncogene 2008) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TMEM102 Gene

Sources for TMEM102 Gene

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