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Aliases for ABHD12B Gene

Aliases for ABHD12B Gene

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

External Ids for ABHD12B Gene

Previous Symbols for ABHD12B Gene

  • C14orf29

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 acylglycerol lipase 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

Genomic Location for ABHD12B Gene

Start:
50,872,160 bp from pter
End:
50,904,970 bp from pter
Size:
32,811 bases
Orientation:
Plus strand

Genomic View for ABHD12B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABHD12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD12B Gene

Regulatory Elements for ABHD12B Gene

Proteins for ABHD12B Gene

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

    Protein Symbol:
    Q7Z5M8-AB12B_HUMAN
    Recommended name:
    Abhydrolase domain-containing protein 12B
    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

No Post-translational modifications

Other Protein References for ABHD12B Gene

No data available for DME Specific Peptides for ABHD12B Gene

Domains for ABHD12B Gene

Gene Families for ABHD12B Gene

HGNC:
  • ABHD :Abhydrolase domain containing

Protein Domains for ABHD12B Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

AB12B_HUMAN
Family:
  • Belongs to the serine esterase family.:
    • Q7Z5M8
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:0008236 serine-type peptidase activity --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD12B: view

Phenotypes for ABHD12B Gene

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

miRNA for ABHD12B Gene

miRTarBase miRNAs that target ABHD12B

No data available for Molecular function , Animal Models , Transcription Factor Targeting 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
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ABHD12B Gene

Pathways for ABHD12B Gene

SuperPathways for ABHD12B Gene

No Data Available

Interacting Proteins for ABHD12B Gene

Gene Ontology (GO) - Biological Process for ABHD12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ABHD12B: view

No data available for Pathways by source for ABHD12B Gene

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) (9.2), Skin - Not Sun Exposed (Suprapubic) (8.3), Brain - Putamen (basal ganglia) (5.9), and Brain - Caudate (basal ganglia) (4.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ABHD12B Gene

SOURCE GeneReport for Unigene cluster for ABHD12B Gene Hs.271896

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

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
  • 99.45 (n)
  • 99.45 (a)
ABHD12B 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD12B 36
  • 86.8 (n)
  • 84.1 (a)
ABHD12B 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD12B 36
  • 86.78 (n)
  • 85.42 (a)
ABHD12B 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd12b 36
  • 79.85 (n)
  • 75.77 (a)
Abhd12b 16
Abhd12b 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12B 37
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD12B 36
  • 56.57 (n)
  • 48.48 (a)
ABHD12B 37
  • 41 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19972 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495642 36
  • 62.6 (n)
  • 52.88 (a)
Str.8535 36
zebrafish
(Danio rerio)
Actinopterygii ABHD12B (1 of 2) 37
  • 37 (a)
OneToMany
ABHD12B (2 of 2) 37
  • 38 (a)
OneToMany
si:ch211-117n7.6 36
  • 55.07 (n)
  • 46.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15111 37
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 37
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs885375 -- 50,898,630(-) AGCAA(A/G)CCCCG intron-variant
rs946619 -- 50,873,370(-) AGCTC(A/G)GTGTG intron-variant
rs1547763 -- 50,875,758(-) AGAAC(A/C)GAGTG intron-variant
rs1556931 -- 50,870,751(-) GCGCG(C/T)GCGCA upstream-variant-2KB
rs1660909 -- 50,895,618(-) GATCT(C/G/T)GGACG 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

Relevant External Links for ABHD12B Gene

HapMap Linkage Disequilibrium report
ABHD12B

Disorders for ABHD12B Gene

Relevant External Links for ABHD12B

Genetic Association Database (GAD)
ABHD12B
genes like me logo Genes that share disorders with ABHD12B: view

No data available for UniProtKB/Swiss-Prot 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
  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
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  4. 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) 49
  5. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PMID: 17903306) Newton-Cheh C. … Larson M.G. (BMC Med. Genet. 2007) 49

Products for ABHD12B Gene

Sources for ABHD12B Gene

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