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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. 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

Enhancers for ABHD12B 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
GH14F050925 1.2 Ensembl ENCODE 10.7 +55.3 55326 3.7 HDAC1 PKNOX1 CBX3 ARNT SIN3A RAD21 GATA2 CREM CEBPB ZEB2 PYGL ABHD12B NIN MRPL57P9 LOC105370492
GH14F050773 1.2 Ensembl ENCODE 10.2 -96.7 -96730 2.9 ATF1 SREBF2 NFRKB ARID4B KLF17 SIN3A DMAP1 RAD21 YY1 ZNF335 VCPKMT NIN MAP4K5 ATL1 ABHD12B SAV1 LOC105370489 GC14M050675
GH14F050784 1.1 Ensembl ENCODE 10.7 -82.3 -82256 10.4 HDGF PKNOX1 TBL1XR1 CBX5 FOS CREM ZNF280D CBFB JUNB CEBPB NIN ENSG00000252945 ABHD12B SAV1 LOC105370489 GC14M050675
GH14F050772 0.9 ENCODE 10.7 -99.3 -99320 1.2 ELF3 ATF1 PKNOX1 SIN3A DMAP1 ZNF48 GLIS2 ZNF366 ELK1 ZNF143 ABHD12B NIN MAP4K5 ATL1 GC14M050675 LOC105370489
GH14F050896 0.6 Ensembl ENCODE 15.9 +25.8 25793 2.2 EGR2 PYGL ABHD12B NIN ENSG00000258745
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD12B on UCSC Golden Path with GeneCards custom track

Promoters for ABHD12B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001789036 10 201 EZH2

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

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

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

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

miRNA for ABHD12B Gene

miRTarBase miRNAs that target ABHD12B

Inhibitory RNA Products

Flow Cytometry 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

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

Selected Interacting proteins: Q7Z5M8-AB12B_HUMAN for ABHD12B Gene via IID

Symbol External ID(s) Details
CD58

Gene Ontology (GO) - Biological Process for ABHD12B Gene

None

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

Transcripts for ABHD12B Gene

Unigene Clusters for ABHD12B Gene

Abhydrolase domain containing 12B:
Representative Sequences:

Inhibitory RNA Products

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

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 35
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia ABHD12B 34 35
  • 86.8 (n)
dog
(Canis familiaris)
Mammalia ABHD12B 34 35
  • 86.78 (n)
mouse
(Mus musculus)
Mammalia Abhd12b 34 16 35
  • 79.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12B 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD12B 34 35
  • 56.57 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495642 34
  • 62.6 (n)
Str.8535 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19972 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-117n7.6 34
  • 55.07 (n)
ABHD12B (2 of 2) 35
  • 38 (a)
OneToMany
ABHD12B (1 of 2) 35
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15111 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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
rs28564871 A breast cancer sample 50,901,892(+) AAATA(A/G)TCTTT reference, missense
rs1042266 Benign 50,905,385(-) CTCTA(C/G)AATTG downstream-variant-500B, utr-variant-3-prime
rs3216001 Benign 50,905,381(-) AGAAT(-/T)GTCTC downstream-variant-500B, utr-variant-3-prime
rs78558135 Benign 50,905,402(+) TTCCA(C/T)TGACT downstream-variant-500B, reference, missense
rs10131261 -- 50,884,471(+) AAGCG(C/G)AGTAT intron-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)

Relevant External Links 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

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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. 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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox C.S. … Atwood L.D. (BMC Med. Genet. 2007) 46 64

Products for ABHD12B Gene

Sources for ABHD12B Gene

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