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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM49A Gene

protein-coding GIFtS: 44
GCID: GC02M016653

family with sequence similarity 49, member A

Search for FAM49A
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
Family With Sequence Similarity 49, Member A¹ ²
DKFZP566A1524¹
FLJ11080¹
Protein FAM49A²

External Ids:	HGNC: 25373¹	Entrez Gene: 81553²	Ensembl: ENSG00000197872⁷	UniProtKB: Q9H0Q0³

Export aliases for FAM49A gene to outside databases

Previous GC identifer: GC02M016505

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

Gene Wiki entry for FAM49A

(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_000002.11 NC_018913.1 NT_015926.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAM49A gene promoter:
AP-1 Bach2 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) LCR-F1 POU3F2 MEF-2A POU2F1 POU2F1a aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM49A promoter sequence

Search SABiosciences Chromatin IP Primers for FAM49A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM49A

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

Entrez Gene cytogenetic band: 2p24.2 Ensembl cytogenetic band: 2p24.2 HGNC cytogenetic band: 2p24.3

FAM49A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM49A gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M016653: view genomic region (about GC identifiers)

Start:	16,730,727 bp from pter	End:	16,847,599 bp from pter
Size:	116,873 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: FA49A_HUMAN, Q9H0Q0 (See protein sequence)

Recommended Name: Protein FAM49A

Size: 323 amino acids; 37313 Da

Explore the universe of human proteins at neXtProt for FAM49A: NX_Q9H0Q0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H0Q0

FAM49A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_110424.1

ENSEMBL proteins:

ENSP00000370724 ENSP00000384771 ENSP00000392154 ENSP00000388979 ENSP00000347744

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	Uscn Proteins for FAM49A

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IDA	--

FAM49A for ontologies About GeneDecksing

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

FAM49A for domains About GeneDecksing

1 InterPro domain/family:

IPR009828 DUF1394

Graphical View of Domain Structure for InterPro Entry Q9H0Q0

ProtoNet protein and cluster: Q9H0Q0

1 Blocks protein family: IPB009828 Protein of unknown function DUF1394

UniProtKB/Swiss-Prot: FA49A_HUMAN, Q9H0Q0

Similarity: Belongs to the FAM49 family

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

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FAM49A

miRNA Products:		OriGene 3'-UTR Clone: FAM49A Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM49A

(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 FAM49A

(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 FAM49A
Search CenterWatch for drugs/clinical trials and news about FAM49A / FA49A

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAM49A gene:

NM_030797.3

Unigene Cluster for FAM49A:

Family with sequence similarity 49, member A

Hs.467769 [show with all ESTs]

Unigene Representative Sequence: NM_030797

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

ENST00000381323(uc010exm.2 uc002rck.2) ENST00000406434 ENST00000469507

ENST00000445605 ENST00000451689 ENST00000355549

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		8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM49A (see all 63):
		hsa-miR-411* hsa-miR-579 hsa-miR-379* hsa-miR-200a hsa-miR-1245 hsa-miR-578 hsa-miR-30d hsa-miR-3921

		SwitchGear 3'UTR luciferase reporter plasmid: FAM49A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against FAM49A

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM49A

Additional cDNA sequence:

AF131789.1 AK001942.1 AK055334.1 AK091280.1 AK315065.1 AL136704.1 BC038971.1 CR533504.1

8 DOTS entries:

DT.86852746 DT.100734929 DT.91749336 DT.120933652 DT.100717822 DT.120933631 DT.65285424 DT.100748272

24/145 AceView cDNA sequences (see all 145):

AW592519 BP349547 BI496419 CR609359 BE045975 BC038971 AI358958 BF510635

BU632296 AW135160 BX952716 AA810054 CR595597 AF131789 AA233092 BP338668

AI539054 AA521117 BU180820 CB118127 CA447839 BM724348 AI138605 T07179

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

FAM49A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTGTTGTG

About this image

FAM49A 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)

Brain

Cerebral Cortex

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM49A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM49A

SOURCE GeneReport for Unigene cluster: Hs.467769

SABiosciences Custom PCR Arrays for FAM49A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM49A Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM49A

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM49A

(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 FAM49A gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FAM49A¹	family with sequence similarity 49, member A	83.08(n) 96.59(a)		421949 NM_001006418.1 NP_001006418.1
lizard (Anolis carolinensis)	Reptilia	FAM49A⁶	--	86(a)	1 ↔ 1	1(143807654-143822100)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.9897²	Transcribed sequence with strong similarity to protein more	82.4(n)		BX693877.1
zebrafish (Danio rerio)	Actinopterygii	sbcb866²	sbcb866	77.58(n)		378872 BC045305.1
fruit fly (Drosophila melanogaster)	Insecta	CG32066⁶	--	52(a)	1 → many	3L(10633386-10654113)
worm (Caenorhabditis elegans)	Secernentea	R07G3.8¹	Protein R07G3.8	46.92(n) 36.94(a)		174234 NM_063198.4 NP_495599.1

ENSEMBL Gene Tree for FAM49A (if available)
TreeFam Gene Tree for FAM49A (if available)

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

Paralogs for FAM49A gene

FAM49B²

4 SIMAP similar genes for FAM49A using alignment to 3 protein entries: FA49A_HUMAN (see all proteins):

DKFZP566A1524 FAM49B DKFZp686B04128 BM009

FAM49A 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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10558897^1,2	C,F	--	16589518(+)	`TGACTTTTA/- TTTAt`	1	--	int¹		2		NA CSA	4
rs7570487^1,2	C,F,H	--	16730346(+)	`ACCCAT/AAAAGT`	1	--	ds500¹		14		EA NS NA WA CSA	1138
rs141869504^1,2		--	16730398(+)	`TGTTTC/TTTAGC`	1	--	ds500¹		0	--	--	--	--
rs192069656^1,2		--	16730437(+)	`TCTAGA/GTATCA`	1	--	ds500¹		0	--	--	--	--
rs11306159^1,2	C	--	16730574(+)	`ATGAC-/TTTTTT`	1	--	ds500¹		1		NA	2
rs143841801^1,2		--	16730880(+)	`ATAGAC/TGTAGT`	1	--	ut3¹		0	--	--	--	--
rs184335153^1,2		--	16730963(+)	`TATTTA/GTAGCT`	1	--	ut3¹		0	--	--	--	--
rs151116115^1,2		--	16731010(+)	`TCTACG/TGCACA`	1	--	ut3¹		0	--	--	--	--
rs3088224^1,2	C,F,A,H	--	16731017(+)	`CACAAT/CTGGAT`	1	--	ut3¹		13		MN NA NS EA WA	980
rs188377432^1,2		--	16731164(+)	`AAGCAC/TGATGT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FAM49A (16730727 - 16847599 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for FAM49A
1 CNV: 47944
1 Indel: 72804

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

(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 FAM49A gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with FAM49A)

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)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (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)
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)¹ Simpson J.C.... Wiemann S. (2000)
DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (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: 81553	HGNC: 25373	AceView: FAM49A	Ensembl:ENSG00000197872	euGenes: HUgn81553
ECgene: FAM49A	H-InvDB: FAM49A

(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 FAM49A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM49A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM49A gene:
Search GeneIP for patents involving FAM49A

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM49A
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM49A

	GenScript Custom Purified and Recombinant Proteins Services for FAM49A		GenScript cDNA clones with any tag delivered in your preferred vector for FAM49A
	GenScript Custom Assay Services for FAM49A		GenScript Custom Superior Antibodies Services for FAM49A
	GenScript Custom overexpressing Cell Line Services for FAM49A		CloneReady with Over 120,000 Genes
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	Regulatory tfbs in FAM49A promoter
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	RT² qPCR Primer Assay in human, mouse, rat FAM49A
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM49A

	SwitchGear 3'UTR luciferase reporter plasmids for FAM49A
	SwitchGear Promoter luciferase reporter plasmids for FAM49A

ThermoFisher Antibody for FAM49A

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM49A

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FAM49A

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 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 FAM49A gene at Home site.

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FAM49A Gene

family with sequence similarity 49, member A

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for FAM49A gene

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for FAM49A gene

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Export list of displayed genes

FAM49A Gene

family with sequence similarity 49, member A

Aliasesfor FAM49A gene

Summariesfor FAM49A gene

Genomic Viewsfor FAM49A gene

Proteinsfor FAM49A gene

Protein Domains /Familiesfor FAM49A gene

Functionfor FAM49A gene

Pathways & Interactionsfor FAM49A gene

Drugs & Compoundsfor FAM49A gene

Transcriptsfor FAM49A gene

Expression for FAM49A gene

Orthologsfor FAM49A gene

Paralogsfor FAM49A gene

Genomic Variantsfor FAM49A gene

Disorders / Diseasesfor FAM49A gene

Publicationsfor FAM49A gene

External Searches for FAM49A gene

Genome Databases showing FAM49A gene

Other Databases showing FAM49A gene

Specialized Databases showing FAM49A gene

Intellectual Propertyfor FAM49A gene

Productsfor FAM49A gene

View Random Gene

Aliases
for FAM49A gene

Summaries
for FAM49A gene

Genomic Views
for FAM49A gene

Proteins
for FAM49A gene

Protein Domains /
Families
for FAM49A gene

Function
for FAM49A gene

Pathways & Interactions
for FAM49A gene

Drugs & Compounds
for FAM49A gene

Transcripts
for FAM49A gene

Expression
for FAM49A gene

Orthologs
for FAM49A gene

Paralogs
for FAM49A gene

Genomic Variants
for FAM49A gene

Disorders / Diseases
for FAM49A gene

Publications
for FAM49A gene

Intellectual Property
for FAM49A gene

Products
for FAM49A gene