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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
  • Protein ABHD12B 3
  • 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. Gene Ontology (GO) annotations related to this gene include hydrolase activity and serine-type peptidase activity. An important paralog of this gene is ABHD12.

Additional gene information for ABHD12B 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 ABHD12B Gene

Genomics for ABHD12B Gene

GeneHancer (GH) Regulatory Elements for ABHD12B Gene

Promoters and enhancers for ABHD12B 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
GH14J050871 Promoter/Enhancer 0.8 EPDnew Ensembl 650.7 +0.1 83 0.7 EZH2 ABHD12B NIN ENSG00000258745 PYGL
GH14J050925 Enhancer 1.1 Ensembl ENCODE 10.7 +55.3 55325 3.7 HDAC1 PKNOX1 ARNT TCF12 ZNF766 GATA2 ATF7 CREM RXRA NCOA1 PYGL ABHD12B NIN MRPL57P9 LOC105370492
GH14J050784 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 -83.0 -82979 9 HDGF PKNOX1 STAT5A EBF1 RELA POLR2A NFATC1 EED ATF7 IKZF2 NIN ENSG00000252945 ABHD12B SAV1 LOC105370489 GC14M050675
GH14J050773 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.2 -96.7 -96729 2.9 CTCF MXI1 JUN RAD21 ZNF335 GATA3 POLR2A ZBTB48 ZNF143 SMC3 NIN MAP4K5 ATL1 ABHD12B SAV1 GC14M050675 LOC105370489
GH14J050797 Enhancer 0.9 ENCODE dbSUPER 10.1 -73.9 -73897 1.3 HDGF IRF4 ZFHX2 POLR2A EED ATF7 PRDM10 BCLAF1 IKZF2 CREM NIN ABHD12B LOC105370489 GC14M050675
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD12B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD12B gene promoter:

Genomic Locations for ABHD12B Gene

Genomic Locations for ABHD12B Gene
chr14:50,872,090-50,904,970
(GRCh38/hg38)
Size:
32,881 bases
Orientation:
Plus strand
chr14:51,338,878-51,371,688
(GRCh37/hg19)

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

Post-translational modifications for ABHD12B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABHD12B Gene

Domains & Families for ABHD12B Gene

Gene Families for ABHD12B Gene

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

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

Phenotypes From GWAS Catalog for ABHD12B Gene

Gene Ontology (GO) - Molecular Function for ABHD12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD12B: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD12B

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD12B Gene

Localization for ABHD12B 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 ABHD12B gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD12B

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of ABHD12B Gene:

ABHD12B

SOURCE GeneReport for Unigene cluster for ABHD12B Gene:

Hs.271896

Evidence on tissue expression from TISSUES for ABHD12B Gene

  • Skin(4.3)
  • Kidney(4)
genes like me logo Genes that share expression patterns with ABHD12B: view

No data available for 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 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 34 33
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD12B 34 33
  • 86.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD12B 34 33
  • 86.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd12b 16 34 33
  • 79.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12B 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD12B 34 33
  • 56.57 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495642 33
  • 62.6 (n)
Str.8535 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19972 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-117n7.6 33
  • 55.07 (n)
ABHD12B (2 of 2) 34
  • 38 (a)
OneToMany
ABHD12B (1 of 2) 34
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15111 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
Species where no ortholog for ABHD12B was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD12B: view image

Paralogs for ABHD12B Gene

Paralogs for ABHD12B Gene

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

  • AB12B_HUMAN
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 Variation AA Info Type
rs1042266 benign, not specified, Glycogen storage disease, type VI 50,905,385(+) C/A/G downstream_transcript_variant
rs28564871 A breast cancer sample 50,901,892(+) A/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs3216001 benign, not specified, Glycogen storage disease, type VI 50,905,381(+) AA/A downstream_transcript_variant
rs755274555 uncertain-significance, Glycogen storage disease, type VI 50,905,455(+) G/A downstream_transcript_variant
rs78558135 benign, likely-benign, not specified, Glycogen storage disease, type VI 50,905,402(+) T/C downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3551545 CNV deletion 23714750
esv3892542 CNV loss 25118596
nsv1141561 CNV deletion 24896259
nsv832794 CNV gain 17160897

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)

Additional Variant Information for ABHD12B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD12B

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

Disorders for ABHD12B Gene

Additional Disease Information for 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 DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58

Products for ABHD12B Gene

Sources for ABHD12B Gene

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