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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SAMD14 Gene

protein-coding GIFtS: 43
GCID: GC17M048188

sterile alpha motif domain containing 14

Explore 2 diseases affiliated with
SAMD14 via

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 14¹ ²
SAM Domain-Containing Protein 14² ³
FLJ36890¹
Sterile Alpha Motif Domain-Containing Protein 14²

External Ids:	HGNC: 27312¹	Entrez Gene: 201191²	Ensembl: ENSG00000167100⁷	UniProtKB: Q8IZD0³

Export aliases for SAMD14 gene to outside databases

Previous GC identifers: GC17M045544 GC17M043557

(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_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SAMD14 gene promoter:
NF-kappaB E47 C/EBPalpha AREB6 NRF-2 HSF2 NF-kappaB2 Sox9 ZIC2/Zic2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SAMD14 promoter sequence

Search SABiosciences Chromatin IP Primers for SAMD14

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAMD14

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

Entrez Gene cytogenetic band: 17q21.33 Ensembl cytogenetic band: 17q21.33 HGNC cytogenetic band: 17q21.33

SAMD14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAMD14 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M048188: view genomic region (about GC identifiers)

Start:	48,187,404 bp from pter	End:	48,207,246 bp from pter
Size:	19,843 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: SAM14_HUMAN, Q8IZD0 (See protein sequence)

Recommended Name: Sterile alpha motif domain-containing protein 14

Size: 417 amino acids; 45056 Da

Secondary accessions: A5D8V1 Q8N2X0

Alternative splicing: 2 isoforms: Q8IZD0-1 Q8IZD0-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SAMD14: NX_Q8IZD0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IZD0

SAMD14 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001244288.1 NP_777580.1

ENSEMBL proteins:

ENSP00000329144 ENSP00000285206 ENSP00000424474 ENSP00000423479

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

SAMD14 for domains About GeneDecksing

3 InterPro domains/families:

IPR013761 SAM/pointed

IPR001660 SAM

IPR021129 SAM_type1

Graphical View of Domain Structure for InterPro Entry Q8IZD0

ProtoNet protein and cluster: Q8IZD0

1 Blocks protein family: IPB001660 Sterile alpha motif SAM

UniProtKB/Swiss-Prot: SAM14_HUMAN, Q8IZD0

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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(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 SAMD14

(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

Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about SAMD14 / SAM14

(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 SAMD14 gene (2 alternative transcripts):

NM_001257359.1 NM_174920.3

Unigene Cluster for SAMD14:

Sterile alpha motif domain containing 14

Hs.567769 [show with all ESTs]

Unigene Representative Sequence: NM_174920

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

ENST00000330175(uc002iqg.3) ENST00000285206(uc002iqe.3) ENST00000508892

ENST00000573376 ENST00000503131(uc002iqf.3) ENST00000515816 ENST00000503734

ENST00000507043 ENST00000511964 ENST00000513474

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Additional cDNA sequence:

AF035306.1 AK094209.1 AK095809.1 AK225767.1 AK291482.1 AY148482.1 BC029872.1 BC047081.1

BC136485.1 BC141822.1 BC142728.1

10 DOTS entries:

DT.100752224 DT.120938059 DT.100788800 DT.40112660 DT.100788798 DT.100022361 DT.91943613 DT.75168583

DT.100682988 DT.120938065

24/53 AceView cDNA sequences (see all 53):

AY148482 AA325509 BC029872 AK054843 AW135853 CR592493 BM710994 BQ434391

NM_174920 AF035306 AL523123 BX327589 AA583682 AK094209 AL134453 BX371380

AL134452 BM677123 AA322252 BM547145 F26380 BF527787 BM926862 BM721479

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SAMD14 (see all 8) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b
SP1:			-		-		-				-				-						-
SP2:			-		-		-				-				-						-								-
SP3:															-						-								-
SP4:																					-								-
SP5:			-		-		-				-				-

ECgene alternative splicing isoforms for SAMD14

(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

SAMD14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAAGGGGAG

About this image

SAMD14 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retina

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SAMD14 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SAMD14

SOURCE GeneReport for Unigene cluster: Hs.567769

SABiosciences Custom PCR Arrays for SAMD14

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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 SAMD14 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	Samd14^{1 , 5}	sterile alpha motif domain containing 14^{1, 5}	88.25(n)¹ 94.48(a)¹		11 (59.01 cM)⁵ 217125¹ NM_146025.2¹ NP_666137.1¹ 95009879⁵
chicken (Gallus gallus)	Aves	LOC100857537¹	sterile alpha motif domain-containing protein 14-like	71.87(n) 70.64(a)		100857537 XM_003643438.1 XP_003643486.1
lizard (Anolis carolinensis)	Reptilia	SAMD14⁶	--	71(a)	1 ↔ 1	6(77300854-77315858)
zebrafish (Danio rerio)	Actinopterygii	LOC100537418¹	sterile alpha motif domain-containing protein 14-like	54.51(n) 51.23(a)		100537418 XM_003199568.1 XP_003199616.1
honey bee (Apis mellifera)	Insecta	--	--	13(a)	1 ↔ 1	Group10.17(273996-276192)

ENSEMBL Gene Tree for SAMD14 (if available)
TreeFam Gene Tree for SAMD14 (if available)

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

Paralogs for SAMD14 gene

PPP1R9A²

1 SIMAP similar gene for SAMD14 using alignment to 4 protein entries: SAM14_HUMAN (see all proteins):

PPP1R9A

SAMD14 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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs180721381^1,2		--	48189245(+)	`GAGCCC/TACTGA`	2	--	ut3¹		0	--	--	--	--
rs113609406^1,2		--	48189315(+)	`CTGCCG/AGGGAC`	2	--	ut3¹		1		CSA	2
rs115982636^1,2	F,	--	48189503(+)	`GAGAAT/CGGGTC`	2	--	ut3¹		1		WA	118
rs144682049^1,2		--	48189686(+)	`GGAGTC/TTGGCT`	2	--	ut3¹		0	--	--	--	--
rs148501326^1,2		--	48189754(+)	`GACAGA/CGCTCT`	2	--	ut3¹		0	--	--	--	--
rs184778959^1,2		--	48189797(+)	`GAGCCA/GCTCCC`	2	--	ut3¹		0	--	--	--	--
rs2239952^1,2	C,F,A,H,	--	48189918(-)	`CCATCG/ATGGGG`	2	--	ut3¹ ese³		18		EA NS NA WA CSA	3122
rs847689^1,2	C,F,A,H,	--	48189953(-)	`GGGAGC/GCTGGG`	2	--	ut3¹		15		MN EA NA WA CSA	607
rs62060029^1,2		--	48190043(+)	`TCAAAA/GTAGGA`	2	--	ut3¹		2		NA	122
rs141795559^1,2		--	48190062(+)	`TAGGCC/GCTCTC`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SAMD14 (48187404 - 48207246 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SAMD14
2 CNVs: 88524 77656

SABiosciences Cancer Mutation PCR Assays

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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

SAMD14 for disorders About GeneDecksing

2 diseases for SAMD14: About MalaCards

lung adenoma adenoma

1 disease from the University of Copenhagen DISEASES database for SAMD14:

Lung adenoma

Export disorders for SAMD14 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 SAMD14 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with SAMD14)

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)
A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)^{1, 3} Andersson B.... Gibbs R.A. (1996)
Boswellic acid induces epigenetic alterations by modul ating DNA methylation in colorectal cancer cells. (PubMed id 22415137)¹ Shen Y....Goel A. (2012)
Trans-eQTLs reveal that independent genetic variants a ssociated with a complex phenotype converge on intermediate genes, with a major role for the HLA. (PubMed id 21829388)¹ Fehrmann R.S....Franke L. (2011)
Frequent aberrant methylation of the promoter region o f sterile alpha motif domain 14 in pulmonary adenocarcinoma. (PubMed id 18823374)¹ Sun W....Noguchi M. (2008)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)¹ Brandenberger R.... Stanton L.W. (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)
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)
Large-scale concatenation cDNA sequencing. (PubMed id 9110174)¹ Yu W.... Gibbs R.A. (1997)

(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: 201191	HGNC: 27312	AceView: LOC201191	Ensembl:ENSG00000167100	euGenes: HUgn201191
ECgene: SAMD14	H-InvDB: SAMD14

(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 SAMD14	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SAMD14 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SAMD14 gene:
Search GeneIP for patents involving SAMD14

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 , 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 SAMD14 gene at Home site.

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SAMD14 Gene

sterile alpha motif domain containing 14

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SAMD14 Gene

sterile alpha motif domain containing 14

Aliasesfor SAMD14 gene

Summariesfor SAMD14 gene

Genomic Viewsfor SAMD14 gene

Proteinsfor SAMD14 gene

Protein Domains /Familiesfor SAMD14 gene

Functionfor SAMD14 gene

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Genome Databases showing SAMD14 gene

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Specialized Databases showing SAMD14 gene

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Aliases
for SAMD14 gene

Summaries
for SAMD14 gene

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for SAMD14 gene

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for SAMD14 gene

Protein Domains /
Families
for SAMD14 gene

Function
for SAMD14 gene

Pathways & Interactions
for SAMD14 gene

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for SAMD14 gene

Transcripts
for SAMD14 gene

Expression
for SAMD14 gene

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for SAMD14 gene

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for SAMD14 gene

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for SAMD14 gene

Disorders / Diseases
for SAMD14 gene

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for SAMD14 gene

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for SAMD14 gene

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for SAMD14 gene