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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM69B Gene

protein-coding GIFtS: 44
GCID: GC09P139607

family with sequence similarity 69, member B

Search for FAM69B
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 69, Member B¹ ²
C9orf136¹ ² ³
MGC20262¹
Pp6977¹
Protein FAM69B²

External Ids:	HGNC: 28290¹	Entrez Gene: 138311²	Ensembl: ENSG00000165716⁷	OMIM: 614543⁵	UniProtKB: Q5VUD6³

Export aliases for FAM69B gene to outside databases

Previous GC identifers: GC09P136883 GC09P138726 GC09P109066

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

Entrez Gene summary for FAM69B:

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize

to the endoplasmic reticulum but their specific functions are unknown. (provided by RefSeq, Nov 2011)

(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_000009.11 NC_018920.1 NT_024000.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAM69B gene promoter:
PPAR-gamma1 C/EBPbeta PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM69B promoter sequence

Search SABiosciences Chromatin IP Primers for FAM69B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM69B

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

Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3

FAM69B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM69B gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P139607: view genomic region (about GC identifiers)

Start:	139,607,022 bp from pter	End:	139,619,170 bp from pter
Size:	12,149 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: FA69B_HUMAN, Q5VUD6 (See protein sequence)

Recommended Name: Protein FAM69B

Size: 431 amino acids; 48583 Da

Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity)

Sequence caution: Sequence=AAL55862.1; Type=Frameshift; Positions=341, 393;

Secondary accessions: Q5VUD7 Q8N5N0 Q8WYU5

Alternative splicing: 2 isoforms: Q5VUD6-1 Q5VUD6-2

Explore the universe of human proteins at neXtProt for FAM69B: NX_Q5VUD6

Post-translational modifications:

Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5VUD6

FAM69B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689634.2

ENSEMBL proteins:

ENSP00000360757 ENSP00000360756

Human Recombinant Protein Products for FAM69B:

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	Uscn Proteins for FAM69B

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

FAM69B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for FAM69B

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

FAM69B for domains About GeneDecksing

1 InterPro domain/family:

IPR022049 Uncharacterised_FAM69

Graphical View of Domain Structure for InterPro Entry Q5VUD6

ProtoNet protein and cluster: Q5VUD6

UniProtKB/Swiss-Prot: FA69B_HUMAN, Q5VUD6

Similarity: Belongs to the FAM69 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

Phenotypes:
1 MGI phenotypic allele

for Fam69b (no phenotypes)

FAM69B for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FAM69B

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM69B

(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 FAM69B

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for FAM69B (Q5VUD6³ ENSP00000360757⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RBMS2	Q15434³, ENSP00000262031⁴	I2D: score=4 STRING: ENSP00000262031

About this table

(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

Browse Tocris compounds for FAM69B
Search CenterWatch for drugs/clinical trials and news about FAM69B / FA69B

(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 FAM69B gene:

NM_152421.3

Unigene Cluster for FAM69B:

Family with sequence similarity 69, member B

Hs.741305 [show with all ESTs]

Unigene Representative Sequence: AF318355

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

ENST00000371692(uc004cik.3) ENST00000371691(uc004cil.3)

miRNA Products:		OriGene 3'-UTR Clone: FAM69B Browse OriGene MicroRNA Expression Plasmids
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM69B
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM69B

Additional cDNA sequence:

AF318355.1 AJ420457.1 AL832531.1 BC032097.2

5 DOTS entries:

DT.95134223 DT.101984224 DT.95127303 DT.92424822 DT.95134191

24/98 AceView cDNA sequences (see all 98):

BC032097 AW583835 AW474739 BG014223 CA951022 AA866005 AI418487 NM_152421

AA707093 BU072413 BF445846 AA732841 AI863574 BU732420 AI765223 BI085542

CA773660 BQ286135 AI128796 AI199472 BM263860 N92339 CA950774 AI040652

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

FAM69B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACATCCCGG

About this image

FAM69B 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: 8 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM69B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM69B

SOURCE GeneReport for Unigene cluster: Hs.741305

SABiosciences Custom PCR Arrays for FAM69B

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM69B Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM69B
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM69B

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM69B

(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 chordates.

Orthologs for FAM69B gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fam69b^{1 , 5}	family with sequence similarity 69, member B^{1, 5}	85.54(n)¹ 88.86(a)¹		2 (18.97 cM)⁵ 56279¹ NM_019833.3¹ NP_062807.2¹ 26628457⁵
chicken (Gallus gallus)	Aves	FAM69B¹	family with sequence similarity 69, member B	70.92(n) 67.05(a)		417139 XM_415423.3 XP_415423.2
lizard (Anolis carolinensis)	Reptilia	FAM69B⁶	--	63(a)	1 ↔ 1	GL344876.1(1818-9306)
zebrafish (Danio rerio)	Actinopterygii	fam69b¹	family with sequence similarity 69, member B	62.95(n) 62.09(a)		567731 NM_001128738.1 NP_001122210.1

ENSEMBL Gene Tree for FAM69B (if available)
TreeFam Gene Tree for FAM69B (if available)

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

Paralogs for FAM69B gene

FAM69A² FAM69C²

1 SIMAP similar gene for FAM69B using alignment to 1 protein entry: FA69B_HUMAN:

FAM69A

FAM69B 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 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74689286^1,2	C,F	--	139605189(+)	`AAATTT/ACTTAG`	1	--	us2k¹		1		WA	118
rs191199156^1,2		--	139605288(+)	`GATCGA/CTTGAG`	1	--	us2k¹		0	--	--	--	--
rs183874537^1,2		--	139605366(+)	`GCCTGC/GTGTGG`	1	--	us2k¹		0	--	--	--	--
rs140901699^1,2		--	139605394(+)	`TGCCTG/TTAATG`	1	--	us2k¹		0	--	--	--	--
rs149414142^1,2		--	139605457(+)	`GGCCAA/GCATAG`	1	--	us2k¹		0	--	--	--	--
rs144730178^1,2		--	139605500(+)	`TAGCCG/TGGCAT`	1	--	us2k¹		0	--	--	--	--
rs148521328^1,2		--	139605600(+)	`ATCGCA/GCCACT`	1	--	us2k¹		0	--	--	--	--
rs34382915^1,2	C	--	139605642(+)	`AAAAA-/AGGAAA`	1	--	us2k¹		1		NA	2
rs112641229^1,2	C	--	139605832(+)	`GCTGAA/GGCAGG`	1	--	us2k¹		2		WA CSA	3
rs186386525^1,2		--	139605879(+)	`GCCTGA/GGCAAC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FAM69B (139607022 - 139619170 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for FAM69B
     9 CNVs: 3785 30350 5415 30359 31535 30355 30351 30357 53172
     1 Indel: 41663
     1 Inversion: 37329

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM69B

DNA2.0 Custom Variant and Variant Library Synthesis for FAM69B

(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

FAM69B for disorders About MalaCards

FAM69B for disorders About GeneDecksing

OMIM gene information: 614543 OMIM disorders: --

Export disorders for FAM69B 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 FAM69B gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM69B)

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

Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. (PubMed id 21334309)^{1, 3} Tennant-Eyles A.J....Roberts R.G. (2011)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (2004)
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)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)² Wan D....Gu J. (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)

(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: 138311	HGNC: 28290	AceView: MGC20262	Ensembl:ENSG00000165716	euGenes: HUgn138311
ECgene: FAM69B	H-InvDB: FAM69B

(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 FAM69B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM69B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM69B gene:
Search GeneIP for patents involving FAM69B

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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	GenScript Custom Purified and Recombinant Proteins Services for FAM69B		GenScript cDNA clones with any tag delivered in your preferred vector for FAM69B
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM69B

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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 FAM69B gene at Home site.

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FAM69B Gene

family with sequence similarity 69, member B

Aliases
for FAM69B gene

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for FAM69B gene

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for FAM69B gene

Protein Domains /
Families
for FAM69B gene

Function
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Pathways & Interactions
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Expression
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Export list of displayed genes

FAM69B Gene

family with sequence similarity 69, member B

Aliasesfor FAM69B gene

Summariesfor FAM69B gene

Genomic Viewsfor FAM69B gene

Proteinsfor FAM69B gene

Protein Domains /Familiesfor FAM69B gene

Functionfor FAM69B gene

Pathways & Interactionsfor FAM69B gene

Drugs & Compoundsfor FAM69B gene

Transcriptsfor FAM69B gene

Expression for FAM69B gene

Orthologsfor FAM69B gene

Paralogsfor FAM69B gene

Genomic Variantsfor FAM69B gene

Disorders / Diseasesfor FAM69B gene

Publicationsfor FAM69B gene

External Searches for FAM69B gene

Genome Databases showing FAM69B gene

Other Databases showing FAM69B gene

Specialized Databases showing FAM69B gene

Intellectual Propertyfor FAM69B gene

Productsfor FAM69B gene

View Random Gene

Aliases
for FAM69B gene

Summaries
for FAM69B gene

Genomic Views
for FAM69B gene

Proteins
for FAM69B gene

Protein Domains /
Families
for FAM69B gene

Function
for FAM69B gene

Pathways & Interactions
for FAM69B gene

Drugs & Compounds
for FAM69B gene

Transcripts
for FAM69B gene

Expression
for FAM69B gene

Orthologs
for FAM69B gene

Paralogs
for FAM69B gene

Genomic Variants
for FAM69B gene

Disorders / Diseases
for FAM69B gene

Publications
for FAM69B gene

Intellectual Property
for FAM69B gene

Products
for FAM69B gene