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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABHD12B Gene

protein-coding GIFtS: 41
GCID: GC14P051338

abhydrolase domain containing 12B

(Previous name: chromosome 14 open reading frame 29 )
(Previous symbol: C14orf29)

Search for ABHD12B
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 12B¹ ²		Abhydrolase Domain-Containing Protein 12B²
C14orf29¹ ² ³		C14_5314¹
BEM46L3¹ ²		EC 3.-.-.-³
Chromosome 14 Open Reading Frame 29¹

External Ids:	HGNC: 19837¹	Entrez Gene: 145447²	Ensembl: ENSG00000131969⁷	UniProtKB: Q7Z5M8³

Export aliases for ABHD12B gene to outside databases

Previous GC identifers: GC14P050409 GC14P031464

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABHD12B gene promoter:
Max1 Pbx1a CUTL1 AREB6 Max HEN1 Sox9 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABHD12B promoter sequence

Search SABiosciences Chromatin IP Primers for ABHD12B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD12B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q22.1 Ensembl cytogenetic band: 14q22.1 HGNC cytogenetic band: 14q21.3

ABHD12B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD12B gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P051338: view genomic region (about GC identifiers)

Start:	51,338,878 bp from pter	End:	51,371,688 bp from pter
Size:	32,811 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AB12B_HUMAN, Q7Z5M8 (See protein sequence)

Recommended Name: Abhydrolase domain-containing protein 12B

Size: 362 amino acids; 40776 Da

Sequence caution: Sequence=AAH34603.3; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAP78477.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=AAP78479.1; Type=Erroneous

translation; Note=Wrong choice of CDS;

Secondary accessions: Q3KNR9 Q3KNS0 Q7Z5M6 Q7Z5M7 Q8N4D2

Alternative splicing: 4 isoforms: Q7Z5M8-1 Q7Z5M8-2 Q7Z5M8-4 Q7Z5M8-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABHD12B: NX_Q7Z5M8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7Z5M8

ABHD12B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001193602.1 NP_861535.1

ENSEMBL proteins:

ENSP00000343951 ENSP00000371460 ENSP00000336693 ENSP00000450643 ENSP00000379101

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ABHD12B for domains About GeneDecksing

1 InterPro domain/family:

IPR026605 ABHD12

Graphical View of Domain Structure for InterPro Entry Q7Z5M8

ProtoNet protein and cluster: Q7Z5M8

UniProtKB/Swiss-Prot: AB12B_HUMAN, Q7Z5M8

Similarity: Belongs to the serine esterase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Enzyme Number (IUBMB): EC 3.-.-.-¹

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In Situ Assay
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016787	hydrolase activity	--	--
GO:0047372	acylglycerol lipase activity	IEA	--

ABHD12B for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ABHD12B:

Increased G1 DNA content

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ABHD12B

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for ABHD12B
Search CenterWatch for drugs/clinical trials and news about ABHD12B / AB12B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for ABHD12B gene (3 alternative transcripts):

NM_181533.3 NM_001206673.1 NM_181814.1

Unigene Cluster for ABHD12B:

Abhydrolase domain containing 12B

Hs.271896 [show with all ESTs]

Unigene Representative Sequence: AK128464

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000353130(uc001wyr.3) ENST00000382029 ENST00000337334(uc001wys.3)

ENST00000557345(uc010any.3) ENST00000554241 ENST00000555292 ENST00000556857

ENST00000554566 ENST00000553715 ENST00000395752(uc001wyq.3)

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Additional cDNA sequence:

AK128464.1 AY311396.1 AY311397.1 AY311398.1 AY311399.1 BC034603.1 BC107141.1 BC107142.1

7 DOTS entries:

DT.101982884 DT.70103705 DT.101982883 DT.430310 DT.101982881 DT.108128 DT.95126417

24/34 AceView cDNA sequences (see all 34):

AY311399 BM691774 BM709226 AI672528 AK128464 BC034603 AI655919 BM715148

NM_181533 AY311398 AY311397 AY311396 NM_181814 AA313538 BM665855 BM693627

BI826414 BM709207 BG742723 BE502594 BG150277 BU732362 AI990176 BU732562

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD12B About this scheme

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

ECgene alternative splicing isoforms for ABHD12B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ABHD12B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGAAACCTC

About this image

ABHD12B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ABHD12B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABHD12B

SOURCE GeneReport for Unigene cluster: Hs.271896

SABiosciences Custom PCR Arrays for ABHD12B

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ABHD12B gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100857753¹	monoacylglycerol lipase ABHD12-like	54.51(n) 46.54(a)		100857753 XM_003641451.1 XP_003641499.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.19972²	Xenopus laevis transcribed sequence with weak similarity more	76.82(n)		BX850459.1
zebrafish (Danio rerio)	Actinopterygii	si:ch211-117n7.6⁶ si:ch211-117n7.7⁶	si:ch211-117n7.7	39(a) 39(a)	1 ↔ many 1 ↔ many	13(9255033-9260985) 13(9243901-9251936)
fruit fly (Drosophila melanogaster)	Insecta	CG15111⁶	--	26(a)	1 → many	2R(15024882-15028539)
worm (Caenorhabditis elegans)	Secernentea	Y97E10AL.2⁶	Protein Y97E10AL.2	27(a)	1 → many	V(7983856-7986218)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ABHD12B gene

ABHD12²

1 SIMAP similar gene for ABHD12B using alignment to 1 protein entry: AB12B_HUMAN:

ABHD12

ABHD12B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112013241^1,2		--	51336962(+)	`ATCCAG/ACAAGT`	2	--	us2k¹		1		CSA	2
rs144131369^1,2		--	51337034(+)	`CAGCTA/GTTCTT`	2	--	us2k¹		0	--	--	--	--
rs147320285^1,2		--	51337137(+)	`TGGGAG/TATTCC`	2	--	us2k¹		0	--	--	--	--
rs2105229^1,2	C,	--	51337150(-)	`ATAAAC/TGTGGT`	2	--	us2k¹		5		NA WA EA	362
rs79615228^1,2	C,F,	--	51337255(+)	`TCAGGC/ATTGGA`	2	--	us2k¹		1		EA	120
rs188309295^1,2		--	51337336(+)	`GCCAGA/GTGTGG`	2	--	us2k¹		0	--	--	--	--
rs192684183^1,2		--	51337396(+)	`TGCTTA/GAGGCC`	2	--	us2k¹		0	--	--	--	--
rs1556931^1,2	C,A,	--	51337469(-)	`GCGCGC/TGCGCA`	2	--	us2k¹		5		NA WA EA	362
rs183852953^1,2		--	51337477(+)	`CGCACC/GAGGCA`	2	--	us2k¹		0	--	--	--	--
rs139739283^1,2		--	51337627(+)	`ATGAC-/AAGAAAGA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ABHD12B (51338878 - 51371688 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ABHD12B: --

SABiosciences Cancer Mutation PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for ABHD12B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ABHD12B gene integrated from 9 sources:
(articles sorted by number of sources associating them with ABHD12B)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)² Heilig R.... Weissenbach J. (2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 145447	HGNC: 19837	AceView: C14orf29	Ensembl:ENSG00000131969	euGenes: HUgn145447
ECgene: ABHD12B	H-InvDB: ABHD12B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ABHD12B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ABHD12B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ABHD12B gene:
Search GeneIP for patents involving ABHD12B

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes ABHD12B gene at Home site.

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ABHD12B Gene

abhydrolase domain containing 12B

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ABHD12B Gene

abhydrolase domain containing 12B

Aliasesfor ABHD12B gene

Summariesfor ABHD12B gene

Genomic Viewsfor ABHD12B gene

Proteinsfor ABHD12B gene

Protein Domains /Familiesfor ABHD12B gene

Functionfor ABHD12B gene

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for ABHD12B gene

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for ABHD12B gene

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for ABHD12B gene

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for ABHD12B gene

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for ABHD12B gene

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for ABHD12B gene

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for ABHD12B gene

Expression
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