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Aliases for ABHD12B Gene

Aliases for ABHD12B Gene

  • Abhydrolase Domain Containing 12B 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 12B 3 4
  • Abhydrolase Domain-Containing Protein 12B 3 4
  • C14orf29 3 4
  • Chromosome 14 Open Reading Frame 29 2
  • EC 3.-.-.- 4
  • C14_5314 3
  • BEM46L3 3

External Ids for ABHD12B Gene

Previous HGNC Symbols for ABHD12B Gene

  • C14orf29

Previous GeneCards Identifiers for ABHD12B Gene

  • GC14P050409
  • GC14P051338
  • GC14P031464

Summaries for ABHD12B Gene

GeneCards Summary for ABHD12B Gene

ABHD12B (Abhydrolase Domain Containing 12B) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity and serine-type peptidase activity. An important paralog of this gene is ABHD12.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD12B Gene

Genomics for ABHD12B Gene

Regulatory Elements for ABHD12B Gene

Promoters for ABHD12B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABHD12B on UCSC Golden Path with GeneCards custom track

Genomic Location for ABHD12B Gene

Chromosome:
14
Start:
50,872,090 bp from pter
End:
50,904,970 bp from pter
Size:
32,881 bases
Orientation:
Plus strand

Genomic View for ABHD12B Gene

Genes around ABHD12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD12B Gene

Proteins for ABHD12B Gene

  • Protein details for ABHD12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5M8-AB12B_HUMAN
    Recommended name:
    Protein ABHD12B
    Protein Accession:
    Q7Z5M8
    Secondary Accessions:
    • Q3KNR9
    • Q3KNS0
    • Q7Z5M6
    • Q7Z5M7
    • Q8N4D2

    Protein attributes for ABHD12B Gene

    Size:
    362 amino acids
    Molecular mass:
    40776 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34603.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP78477.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAP78479.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABHD12B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD12B Gene

Proteomics data for ABHD12B Gene at MOPED

Post-translational modifications for ABHD12B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABHD12B Gene

No data available for DME Specific Peptides for ABHD12B Gene

Domains & Families for ABHD12B Gene

Gene Families for ABHD12B Gene

Protein Domains for ABHD12B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD12B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z5M8

UniProtKB/Swiss-Prot:

AB12B_HUMAN :
  • Belongs to the serine esterase family.
Family:
  • Belongs to the serine esterase family.
genes like me logo Genes that share domains with ABHD12B: view

Function for ABHD12B Gene

Enzyme Numbers (IUBMB) for ABHD12B Gene

genes like me logo Genes that share phenotypes with ABHD12B: view

Animal Model Products

CRISPR Products

miRNA for ABHD12B Gene

miRTarBase miRNAs that target ABHD12B

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD12B Gene

Localization for ABHD12B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABHD12B Gene COMPARTMENTS Subcellular localization image for ABHD12B gene
Compartment Confidence
cytosol 2
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ABHD12B Gene

Pathways & Interactions for ABHD12B Gene

SuperPathways for ABHD12B Gene

No Data Available

Interacting Proteins for ABHD12B Gene

Gene Ontology (GO) - Biological Process for ABHD12B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ABHD12B Gene

Drugs & Compounds for ABHD12B Gene

No Compound Related Data Available

Transcripts for ABHD12B Gene

Unigene Clusters for ABHD12B Gene

Abhydrolase domain containing 12B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD12B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: -
SP3: - -
SP4: - - -

Relevant External Links for ABHD12B Gene

GeneLoc Exon Structure for
ABHD12B
ECgene alternative splicing isoforms for
ABHD12B

Expression for ABHD12B Gene

mRNA expression in normal human tissues for ABHD12B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABHD12B Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.2), Skin - Not Sun Exposed (Suprapubic) (x8.3), Brain - Putamen (basal ganglia) (x5.9), and Brain - Caudate (basal ganglia) (x4.3).

SOURCE GeneReport for Unigene cluster for ABHD12B Gene Hs.271896

genes like me logo Genes that share expression patterns with ABHD12B: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ABHD12B Gene

Orthologs for ABHD12B Gene

This gene was present in the common ancestor of animals.

Orthologs for ABHD12B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD12B 36
  • 99 (a)
OneToOne
ABHD12B 35
  • 99.45 (n)
  • 99.45 (a)
cow
(Bos Taurus)
Mammalia ABHD12B 36
  • 84 (a)
OneToOne
ABHD12B 35
  • 86.8 (n)
  • 84.1 (a)
dog
(Canis familiaris)
Mammalia ABHD12B 35
  • 86.78 (n)
  • 85.42 (a)
ABHD12B 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd12b 36
  • 74 (a)
OneToOne
Abhd12b 16
Abhd12b 35
  • 79.85 (n)
  • 75.77 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12B 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD12B 35
  • 56.57 (n)
  • 48.48 (a)
ABHD12B 36
  • 41 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19972 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495642 35
  • 62.6 (n)
  • 52.88 (a)
Str.8535 35
zebrafish
(Danio rerio)
Actinopterygii ABHD12B (1 of 2) 36
  • 37 (a)
OneToMany
ABHD12B (2 of 2) 36
  • 38 (a)
OneToMany
si:ch211-117n7.6 35
  • 55.07 (n)
  • 46.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15111 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for ABHD12B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)

Evolution for ABHD12B Gene

ENSEMBL:
Gene Tree for ABHD12B (if available)
TreeFam:
Gene Tree for ABHD12B (if available)

Paralogs for ABHD12B Gene

Paralogs for ABHD12B Gene

(1) SIMAP similar genes for ABHD12B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ABHD12B: view

Variants for ABHD12B Gene

Sequence variations from dbSNP and Humsavar for ABHD12B Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs7154732 - 50,904,131(+) TTATC(C/T)TTCCT reference, missense
VAR_035676 A breast cancer sample
rs885375 -- 50,898,630(-) AGCAA(A/G)CCCCG intron-variant
rs1660910 -- 50,895,571(-) GCTCC(A/G)GGAGT intron-variant
rs1953876 -- 50,879,992(-) CCAAG(A/T)AACCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABHD12B Gene

Variant ID Type Subtype PubMed ID
nsv832794 CNV Gain 17160897
nsv901938 CNV Loss 21882294

Variation tolerance for ABHD12B Gene

Residual Variation Intolerance Score: 90.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.16; 95.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD12B Gene

HapMap Linkage Disequilibrium report
ABHD12B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD12B Gene

Disorders for ABHD12B Gene

Relevant External Links for ABHD12B

Genetic Association Database (GAD)
ABHD12B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD12B

No disorders were found for ABHD12B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD12B Gene

Publications for ABHD12B 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  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

Products for ABHD12B Gene

Sources for ABHD12B Gene

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