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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM71B Gene

protein-coding GIFtS: 41
GCID: GC05M156589

family with sequence similarity 71, member B

Explore 2 diseases affiliated with
FAM71B 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
Family With Sequence Similarity 71, Member B¹ ²
MGC26988¹
Protein FAM71B²

External Ids:	HGNC: 28397¹	Entrez Gene: 153745²	Ensembl: ENSG00000170613⁷	UniProtKB: Q8TC56³

Export aliases for FAM71B gene to outside databases

Previous GC identifers: GC05M156522 GC05M151677

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

UniProtKB/Swiss-Prot: FA71B_HUMAN, Q8TC56

Function: May be involved in RNA biogenesis

(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_000005.9 NC_018916.1 NT_023133.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAM71B gene promoter:
Nkx3-1 Nkx3-1 v4 STAT1 AML1a GATA-3 IRF-1 FOXJ2 (long isoform) FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM71B promoter sequence

Search SABiosciences Chromatin IP Primers for FAM71B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM71B

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

Entrez Gene cytogenetic band: 5q33.3 Ensembl cytogenetic band: 5q33.3 HGNC cytogenetic band: 5q33.3

FAM71B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM71B gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M156589: view genomic region (about GC identifiers)

Start:	156,588,857 bp from pter	End:	156,593,279 bp from pter
Size:	4,423 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,
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About This Section

UniProtKB/Swiss-Prot: FA71B_HUMAN, Q8TC56 (See protein sequence)

Recommended Name: Protein FAM71B

Size: 605 amino acids; 64756 Da

Subunit: Interacts with FRG1

Subcellular location: Nucleus. Note=Cajal body and speckle localization

Secondary accessions: Q1EDD9 Q8TC64 Q96LY8

Explore the universe of human proteins at neXtProt for FAM71B: NX_Q8TC56

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8TC56

FAM71B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_570969.2

ENSEMBL proteins:

ENSP00000305596

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

FAM71B 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

FAM71B for domains About GeneDecksing

1 InterPro domain/family:

IPR022168 DUF3699

Graphical View of Domain Structure for InterPro Entry Q8TC56

ProtoNet protein and cluster: Q8TC56

UniProtKB/Swiss-Prot: FA71B_HUMAN, Q8TC56

Similarity: Belongs to the FAM71 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

Function Summary:

UniProtKB/Swiss-Prot: FA71B_HUMAN, Q8TC56

Function: May be involved in RNA biogenesis

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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 FAM71B

(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 FAM71B
Search CenterWatch for drugs/clinical trials and news about FAM71B / FA71B

(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 FAM71B gene:

NM_130899.2

Unigene Cluster for FAM71B:

Family with sequence similarity 71, member B

Hs.666099 [show with all ESTs]

Unigene Representative Sequence: BC022035

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000302938(uc003lwn.3)

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Additional cDNA sequence:

AF465821.1 AK057543.1 AY973323.1 BC022035.1 BC025397.1 BC025409.1 BC025998.1

2 DOTS entries:

DT.97835076 DT.91749076

24/183 AceView cDNA sequences (see all 183):

AA938620 BC006968 AI239626 AI284492 BU902340 AI371458 BQ011916 CB243286

BI828956 AA722901 AF104251 AK057543 AA731165 BQ721490 AI767723 AV713281

AA195720 AV702955 BM698562 BP370616 CR541696 BG740750 BQ632043 CF529528

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

FAM71B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAGAGAGGT

About this image

FAM71B 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)

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM71B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM71B

SOURCE GeneReport for Unigene cluster: Hs.666099

SABiosciences Custom PCR Arrays for FAM71B

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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 chordates.

Orthologs for FAM71B gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fam71b^{1 , 5}	family with sequence similarity 71, member B^{1, 5}	68.1(n)¹ 57.8(a)¹		11 (27.83 cM)⁵ 432552¹ NM_001013783.1¹ NP_001013805.1¹ 46396559⁵
lizard (Anolis carolinensis)	Reptilia	-- --	--	50(a) 40(a)	many ↔ many many ↔ many	6(71330920-71334054) 6(71352843-71360031)

ENSEMBL Gene Tree for FAM71B (if available)
TreeFam Gene Tree for FAM71B (if available)

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

Paralogs for FAM71B gene

FAM71E1² FAM71D² FAM71A² ENSG00000267706² FAM71E2² FAM71C² FAM71F2² FAM71F1²

2 SIMAP similar genes for FAM71B using alignment to 1 protein entry: FA71B_HUMAN:

FAM71C FAM71A

FAM71B for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for FAM71B
PGOHUM00000247879 PGOHUM00000236418

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs149996880^1,2	C	other	156590332(+)	`CTGCTC/TCCGCC`	2	E G	mis¹		1		NA	4550
rs58699522^1,2	C,	--	156588987(+)	`GTATTG/TCTCCT`	1	--	int¹		2		WA	120
rs146089215^1,2		--	156589159(+)	`AGTCTC/TGGGGA`	1	--	int¹		0	--	--	--	--
rs31207^1,2	C,F,A,H,	--	156589188(-)	`TGTTCA/GGCTTT`	1	--	int¹		16		MN NS EA NA WA CSA	949
rs139778518^1,2		--	156589241(+)	`ACTTGA/CCTGGA`	1	--	int¹		0	--	--	--	--
rs35421005^1,2	C,F,	--	156589248(+)	`TGGAGG/ACTGGG`	1	--	int¹		3		NA	6
rs144687161^1,2		--	156589267(+)	`CTGTAA/GCATAG`	1	--	int¹		0	--	--	--	--
rs2278385^1,2	C,F,O,H,	--	156589399(+)	`AGCTGG/TGATGG`	1	--	ut3¹ ese³		29		EA NA NS EU	4979
rs149402782^1,2	C	--	156589466(+)	`AATGGA/GTTTGG`	2	P S	mis¹		1		NA	4550
rs2115480^1,2	C,F,A,H,	--	156589481(-)	`TGATCG/ATCTTT`	2	/I /V	mis¹		12		NA NS EA	1274

HapMap Linkage Disequilibrium report for FAM71B (156588857 - 156593279 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FAM71B: --

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

FAM71B for disorders About GeneDecksing

2 diseases for FAM71B: About MalaCards

facioscapulohumeral muscular dystrophy muscular dystrophy

1 disease from the University of Copenhagen DISEASES database for FAM71B:

Facioscapulohumeral muscular dystrophy

Export disorders for FAM71B 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 FAM71B gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM71B)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 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, 3} Strausberg R.L....Marra M.A. (2002)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. (PubMed id 17103222)² van Koningsbruggen S.... van der Maarel S.M. (2007)
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)

(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: 153745	HGNC: 28397	AceView: CRSP9andMGC26988	Ensembl:ENSG00000170613	euGenes: HUgn153745
ECgene: FAM71B	H-InvDB: FAM71B

(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 FAM71B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM71B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM71B gene:
Search GeneIP for patents involving FAM71B

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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FAM71B Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for FAM71B

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM71B

	Browse SwitchGear 3'UTR luciferase reporter plasmids for FAM71B
	SwitchGear Promoter luciferase reporter plasmids for FAM71B

Search ThermoFisher Antibodies for FAM71B

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM71B

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
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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

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

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FAM71B Gene

family with sequence similarity 71, member B

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for FAM71B gene

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for FAM71B gene

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for FAM71B gene

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for FAM71B gene

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for FAM71B gene

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Export list of displayed genes

FAM71B Gene

family with sequence similarity 71, member B

Aliasesfor FAM71B gene

Summariesfor FAM71B gene

Genomic Viewsfor FAM71B gene

Proteinsfor FAM71B gene

Protein Domains /Familiesfor FAM71B gene

Functionfor FAM71B gene

Pathways & Interactionsfor FAM71B gene

Drugs & Compoundsfor FAM71B gene

Transcriptsfor FAM71B gene

Expression for FAM71B gene

Orthologsfor FAM71B gene

Paralogsfor FAM71B gene

Genomic Variantsfor FAM71B gene

Disorders / Diseasesfor FAM71B gene

Publicationsfor FAM71B gene

External Searches for FAM71B gene

Genome Databases showing FAM71B gene

Other Databases showing FAM71B gene

Specialized Databases showing FAM71B gene

Intellectual Propertyfor FAM71B gene

Productsfor FAM71B gene

View Random Gene

Aliases
for FAM71B gene

Summaries
for FAM71B gene

Genomic Views
for FAM71B gene

Proteins
for FAM71B gene

Protein Domains /
Families
for FAM71B gene

Function
for FAM71B gene

Pathways & Interactions
for FAM71B gene

Drugs & Compounds
for FAM71B gene

Transcripts
for FAM71B gene

Expression
for FAM71B gene

Orthologs
for FAM71B gene

Paralogs
for FAM71B gene

Genomic Variants
for FAM71B gene

Disorders / Diseases
for FAM71B gene

Publications
for FAM71B gene

Intellectual Property
for FAM71B gene

Products
for FAM71B gene