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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SAMD12 Gene

protein-coding GIFtS: 39
GCID: GC08M119270

sterile alpha motif domain containing 12

Search for SAMD12
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
Sterile Alpha Motif Domain Containing 12¹ ²
SAM Domain-Containing Protein 12² ³
FLJ39458¹
Sterile Alpha Motif Domain-Containing Protein 12²

External Ids:	HGNC: 31750¹	Entrez Gene: 401474²	Ensembl: ENSG00000177570⁷	UniProtKB: Q8N8I0³

Export aliases for SAMD12 gene to outside databases

Previous GC identifers: GC08M119459 GC08M114528

(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_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SAMD12 gene promoter:
Nkx3-1 C/EBPbeta AP-1 Nkx3-1 v1 CREB Nkx3-1 v2 Nkx6-1 deltaCREB Nkx3-1 v3 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SAMD12 promoter sequence

Search SABiosciences Chromatin IP Primers for SAMD12

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAMD12

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

Entrez Gene cytogenetic band: 8q24.12 Ensembl cytogenetic band: 8q24.12 HGNC cytogenetic band: 8q24.12

SAMD12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAMD12 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M119270: view genomic region (about GC identifiers)

Start:	119,201,694 bp from pter	End:	119,634,234 bp from pter
Size:	432,541 bases	Orientation:	minus 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: SAM12_HUMAN, Q8N8I0 (See protein sequence)

Recommended Name: Sterile alpha motif domain-containing protein 12

Size: 201 amino acids; 22907 Da

Secondary accessions: Q0P502

Explore the universe of human proteins at neXtProt for SAMD12: NX_Q8N8I0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N8I0

SAMD12 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001095146.1 NP_997389.2

ENSEMBL proteins:

ENSP00000402786 ENSP00000435927 ENSP00000387605 ENSP00000314173 ENSP00000431360

ENSP00000434079 ENSP00000387133

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

SAMD12 for domains About GeneDecksing

3 InterPro domains/families:

IPR013761 SAM/pointed

IPR001660 SAM

IPR011510 SAM_2

Graphical View of Domain Structure for InterPro Entry Q8N8I0

ProtoNet protein and cluster: Q8N8I0

1 Blocks protein family: IPB001660 Sterile alpha motif SAM

UniProtKB/Swiss-Prot: SAM12_HUMAN, Q8N8I0

Similarity: Contains 1 SAM (sterile alpha motif) domain

(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

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About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SAMD12

(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

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Browse Tocris compounds for SAMD12
Search CenterWatch for drugs/clinical trials and news about SAMD12 / SAM12

(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,
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About This Section

REFSEQ mRNAs for SAMD12 gene (2 alternative transcripts):

NM_001101676.1 NM_207506.2

Unigene Clusters for SAMD12:

Sterile alpha motif domain containing 12

Hs.359393 [show with all ESTs], Hs.701196 [show with all ESTs]

Unigene Representative Sequences: NM_001101676, AV724325

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

ENST00000453675 ENST00000524796 ENST00000445741 ENST00000527515 ENST00000314727(uc003yom.2)

ENST00000526328 ENST00000526765 ENST00000409003(uc010mda.1 uc010mdb.1)

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Additional cDNA sequence: EF212289.1

12 DOTS entries:

DT.97822079 DT.99936242 DT.92024917 DT.206268 DT.75176359 DT.91647065 DT.206267 DT.91664629

DT.92005670 DT.97785533 DT.40201986 DT.99986063

8 AceView cDNA sequences:

BF058494 BG387404 AK096777 BF516219 NM_207506 BM930432 BM728028 CD690574

GeneLoc Exon Structure

(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

SAMD12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAATGTATT

About this image
See SAMD12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SAMD12

SOURCE GeneReport for Unigene clusters: Hs.359393 Hs.701196

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In Situ
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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 SAMD12 gene from 5/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Samd12^{1 , 5}	sterile alpha motif domain containing 12^{1, 5}	89.6(n)¹ 93.63(a)¹		15 (21.10 cM)⁵ 320679¹ NM_177225.4¹ NP_796199.1¹ 53461621⁵
chicken (Gallus gallus)	Aves	SAMD12¹	sterile alpha motif domain containing 12	77.48(n) 81.46(a)		420282 XM_418395.3 XP_418395.3
lizard (Anolis carolinensis)	Reptilia	SAMD12⁶	--	80(a)	1 ↔ 1	GL343269.1(571129-638788)
zebrafish (Danio rerio)	Actinopterygii	samd12¹	sterile alpha motif domain containing 12	65.31(n) 68.71(a)		797592 XM_001338025.2 XP_001338061.1
fruit fly (Drosophila melanogaster)	Insecta	ave⁶	aveugle	33(a)	1 → many	2R(10640031-10640774)

ENSEMBL Gene Tree for SAMD12 (if available)
TreeFam Gene Tree for SAMD12 (if available)

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

Paralogs for SAMD12 gene

SAMD10²

1 SIMAP similar gene for SAMD12 using alignment to 7 protein entries: SAM12_HUMAN (see all proteins):

SAMD10

SAMD12 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SAMD12
PGOHUM00000243530

(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 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181516423^1,2		--	119201239(+)	`CAGGAC/GGTGCT`	1	--	int¹		0	--	--	--	--
rs17451866^1,2	C,H	--	119201306(+)	`AAATCA/C/GGTGGG`	1	--	int¹		5		NS EA CSA	420
rs11562666^1,2	C,F,H,	--	119201362(+)	`GAGGGG/ATGAAG`	1	--	int¹		11		NA NS EA CSA WA	829
rs80345080^1,2		--	119201383(+)	`CTATCG/ATCCAG`	1	--	int¹		1		NA	120
rs140389341^1,2		--	119201419(+)	`CAGTCA/GTTGCA`	1	--	int¹		0	--	--	--	--
rs17507124^1,2	C,F,H,	--	119201443(+)	`GATTTG/TGTGCT`	1	--	int¹		5		NS EA WA	534
rs187045980^1,2		--	119201448(+)	`GGTGCC/TGGGGG`	1	--	int¹		0	--	--	--	--
rs17507131^1,2	C,F,H,	--	119201451(+)	`GCTGGG/AGGAAT`	1	--	int¹		5		NS EA WA	536
rs190195438^1,2		--	119201452(+)	`CTGGGA/GGAATT`	1	--	int¹		0	--	--	--	--
rs17484632^1,2	C,F,H,	--	119201503(+)	`ACATAT/CATTAT`	1	--	int¹		6		NS EA WA	538

HapMap Linkage Disequilibrium report for SAMD12 (119201694 - 119451694 bp, first 250kb of SAMD12)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for SAMD12
     7 CNVs: 95651 70427 100481 0300 82741 31450 31451
     8 Indels: 47448 42186 100482 33880 70426 28750 52356 62847
     1 Inversion: 59861

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(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

SAMD12 for disorders About MalaCards

SAMD12 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: SAMD12 (2 documents)

Export disorders for SAMD12 gene to outside databases

(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 SAMD12 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SAMD12)

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

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Structured RNAs in the ENCODE selected regions of the human genome. (PubMed id 17568003)¹ Washietl S....Stadler P.F. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
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)
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)¹ Dias Neto E....Simpson A.J.G. (2000)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 401474	HGNC: 31750	AceView: SAMD12	Ensembl:ENSG00000177570	euGenes: HUgn401474
ECgene: SAMD12	H-InvDB: SAMD12

(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 SAMD12	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SAMD12 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SAMD12 gene:
Search GeneIP for patents involving SAMD12

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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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAMD12

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 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 SAMD12 gene at Home site.

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SAMD12 Gene

sterile alpha motif domain containing 12

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Export list of displayed genes

SAMD12 Gene

sterile alpha motif domain containing 12

Aliasesfor SAMD12 gene

Summariesfor SAMD12 gene

Genomic Viewsfor SAMD12 gene

Proteinsfor SAMD12 gene

Protein Domains /Familiesfor SAMD12 gene

Functionfor SAMD12 gene

Pathways & Interactionsfor SAMD12 gene

Drugs & Compoundsfor SAMD12 gene

Transcriptsfor SAMD12 gene

Expression for SAMD12 gene

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Genome Databases showing SAMD12 gene

Other Databases showing SAMD12 gene

Specialized Databases showing SAMD12 gene

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Productsfor SAMD12 gene

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Aliases
for SAMD12 gene

Summaries
for SAMD12 gene

Genomic Views
for SAMD12 gene

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for SAMD12 gene

Protein Domains /
Families
for SAMD12 gene

Function
for SAMD12 gene

Pathways & Interactions
for SAMD12 gene

Drugs & Compounds
for SAMD12 gene

Transcripts
for SAMD12 gene

Expression
for SAMD12 gene

Orthologs
for SAMD12 gene

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for SAMD12 gene

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for SAMD12 gene

Disorders / Diseases
for SAMD12 gene

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for SAMD12 gene

Intellectual Property
for SAMD12 gene

Products
for SAMD12 gene