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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM50B Gene

protein-coding GIFtS: 47
GCID: GC06P003849

family with sequence similarity 50, member B

Explore 2 diseases affiliated with
FAM50B 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 50, Member B¹ ²
X5L¹ ² ³
D6S2654E¹ ²
Protein FAM50B²
Protein XAP-5-Like³

External Ids:	HGNC: 18789¹	Entrez Gene: 26240²	Ensembl: ENSG00000145945⁷	OMIM: 614686⁵	UniProtKB: Q9Y247³

Export aliases for FAM50B gene to outside databases

Previous GC identifers: GC06P003795 GC06P003726

(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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAM50B gene promoter:
STAT5A c-Ets-1 HNF-1A GATA-1 N-Myc PPAR-gamma1 E2F-1 E2F HNF-1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM50B promoter sequence

Search SABiosciences Chromatin IP Primers for FAM50B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM50B

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

Entrez Gene cytogenetic band: 6p25.2 Ensembl cytogenetic band: 6p25.2 HGNC cytogenetic band: 6p25.2

FAM50B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM50B gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P003849: view genomic region (about GC identifiers)

Start:	3,849,620 bp from pter	End:	3,851,551 bp from pter
Size:	1,932 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: FA50B_HUMAN, Q9Y247 (See protein sequence)

Recommended Name: Protein FAM50B

Size: 325 amino acids; 38709 Da

Secondary accessions: Q5T2L6

Explore the universe of human proteins at neXtProt for FAM50B: NX_Q9Y247

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y247

FAM50B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_036267.1

ENSEMBL proteins:

ENSP00000369627 ENSP00000369625

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	Uscn Proteins for FAM50B

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:0005634	nucleus	IEA	--

FAM50B 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

FAM50B for domains About GeneDecksing

1 InterPro domain/family:

IPR007005 XAP5

Graphical View of Domain Structure for InterPro Entry Q9Y247

ProtoNet protein and cluster: Q9Y247

UniProtKB/Swiss-Prot: FA50B_HUMAN, Q9Y247

Similarity: Belongs to the FAM50 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: FA50B_HUMAN, Q9Y247

Induction: Imprinted. Promoter methylation of the maternal allele may restrict expression to the paternal allele in

placenta

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM50B

(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 FAM50B

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/7 Interacting proteins for FAM50B (Q9Y247^{2, 3} ENSP00000369625⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCDC85B	Q15834²^,³, ENSP00000311695⁴	MINT-66972 I2D: score=5 STRING: ENSP00000311695
KPNA3	O00505³, ENSP00000261667⁴	I2D: score=3 STRING: ENSP00000261667
LDOC1	O95751³, ENSP00000359557⁴	I2D: score=1 STRING: ENSP00000359557
IKZF1	Q13422³	I2D: score=1
SUMO2	ENSP00000405965⁴	STRING: ENSP00000405965

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 FAM50B
Search CenterWatch for drugs/clinical trials and news about FAM50B / FA50B

(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 FAM50B gene:

NM_012135.1

Unigene Cluster for FAM50B:

Family with sequence similarity 50, member B

Hs.140944 [show with all ESTs]

Unigene Representative Sequence: BC001261

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

ENST00000380274(uc021ykt.1) ENST00000380272(uc003mvu.3)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM50B

Additional cDNA sequence:

BC001261.1 Y18503.1

2 DOTS entries:

DT.454081 DT.92004053

24/84 AceView cDNA sequences (see all 84):

BU957044 BU623307 BM768583 BQ068002 BI768136 Y18503 BM663313 CR623120

CR605415 CR602326 CA423816 NM_012135 CD244667 BQ278643 CR597441 CR590152

BM553857 BU732878 BM920833 BC001261 CR600946 BI258091 BQ777321 AL562924

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

FAM50B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTCAGTTTG

About this image

FAM50B 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: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM50B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM50B

SOURCE GeneReport for Unigene cluster: Hs.140944

UniProtKB/Swiss-Prot: FA50B_HUMAN, Q9Y247

Tissue specificity: Widely expressed. Mostly abundant in testis and adult and fetal brain

SABiosciences Custom PCR Arrays for FAM50B

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM50B

(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 eukaryotes.

Orthologs for FAM50B gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	FAM50A⁶	--	74(a)	1 → many	1(204534503-204546816)
zebrafish (Danio rerio)	Actinopterygii	fam50a⁶	family with sequence similarity 50, member A	70(a)	1 → many	23(34298904-34316826)
fruit fly (Drosophila melanogaster)	Insecta	CG12259⁶	--	53(a)	1 → many	3R(23745566-23746811)
worm (Caenorhabditis elegans)	Secernentea	C47E8.4⁶	Protein FAM50 homolog	44(a)	1 → many	V(14683656-14685513)
thale cress (Arabidopsis thaliana)	eudicotyledons	XCT⁶	protein XAP5 CIRCADIAN TIMEKEEper	42(a)	1 → many	2(9065338-9068093)
rice (Oryza sativa)	Liliopsida	--	XAP5 family protein, putative, expressed	42(a)	1 → many	9(21050153-21053539)

ENSEMBL Gene Tree for FAM50B (if available)
TreeFam Gene Tree for FAM50B (if available)

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

Paralogs for FAM50B gene

FAM50A²

1 SIMAP similar gene for FAM50B using alignment to 1 protein entry: FA50B_HUMAN:

FAM50A

FAM50B 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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182223286^1,2		--	3847713(+)	`TCCTCA/TCCTCT`	1	--	us2k¹		0	--	--	--	--
rs185325322^1,2		--	3847952(+)	`AAAGAA/GGCCTA`	1	--	us2k¹		0	--	--	--	--
rs140027300^1,2		--	3848012(+)	`CATTTC/TTAGCC`	1	--	us2k¹		0	--	--	--	--
rs75548613^1,2		--	3848118(+)	`TGTCTC/TAGGCA`	1	--	us2k¹		2		CSA WA	120
rs189735017^1,2		--	3848243(+)	`CACTTC/TGGAGT`	1	--	us2k¹		0	--	--	--	--
rs141930144^1,2		--	3848431(+)	`AATCTG/TCAATT`	1	--	us2k¹		0	--	--	--	--
rs146337611^1,2		--	3848470(+)	`TCCCAA/GAGCTC`	1	--	us2k¹		0	--	--	--	--
rs182732862^1,2		--	3848595(+)	`GAAAGC/TGTGAA`	1	--	us2k¹		0	--	--	--	--
rs7740880^1,2	C,F,A,H,	--	3848633(+)	`GAGGAA/GCGTCA`	1	--	us2k¹		30		NS EA NA WA CSA	3207
rs79123507^1,2	F,	--	3848689(+)	`GCTCAC/TACCGT`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for FAM50B (3849620 - 3851551 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FAM50B: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM50B

DNA2.0 Custom Variant and Variant Library Synthesis for FAM50B

(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

FAM50B for disorders           About GeneDecksing

OMIM gene information: 614686    OMIM disorders: --

2 diseases for FAM50B:    About MalaCards

silver-russell syndrome malaria

1 disease from the University of Copenhagen DISEASES database for FAM50B:

Silver-Russell syndrome

Export disorders for FAM50B 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 FAM50B gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM50B)

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

Human and mouse XAP-5 and XAP-5-like (X5L) genes: identification of an ancient functional retroposon differentially expressed in testis. (PubMed id 10534398)^{1, 2, 3, 9} Sedlack Z.... Poustka A. (1999)
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)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. (PubMed id 21593219)² Nakabayashi K.... Monk D. (2011)
Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)¹ Tatham M.H....Hay R.T. (2011)
XAP5 CIRCADIAN TIMEKEEPER coordinates light signals for proper timing of photomorphogenesis and the circadian clock in Arabidopsis. (PubMed id 18515502)¹ Martin-Tryon E.L. and Harmer S.L. (2008)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)² Mungall A.J.... Beck S. (2003)
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: 26240	HGNC: 18789	AceView: FAM50B	Ensembl:ENSG00000145945	euGenes: HUgn26240
ECgene: FAM50B	H-InvDB: FAM50B

(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 FAM50B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM50B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM50B gene:
Search GeneIP for patents involving FAM50B

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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	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM50B
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	GenScript Custom Purified and Recombinant Proteins Services for FAM50B		GenScript cDNA clones with any tag delivered in your preferred vector for FAM50B
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM50B

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 FAM50B gene at Home site.

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FAM50B Gene

family with sequence similarity 50, member B

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for FAM50B gene

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for FAM50B gene

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Export list of displayed genes

FAM50B Gene

family with sequence similarity 50, member B

Aliasesfor FAM50B gene

Summariesfor FAM50B gene

Genomic Viewsfor FAM50B gene

Proteinsfor FAM50B gene

Protein Domains /Familiesfor FAM50B gene

Functionfor FAM50B gene

Pathways & Interactionsfor FAM50B gene

Drugs & Compoundsfor FAM50B gene

Transcriptsfor FAM50B gene

Expression for FAM50B gene

Orthologsfor FAM50B gene

Paralogsfor FAM50B gene

Genomic Variantsfor FAM50B gene

Disorders / Diseasesfor FAM50B gene

Publicationsfor FAM50B gene

External Searches for FAM50B gene

Genome Databases showing FAM50B gene

Other Databases showing FAM50B gene

Specialized Databases showing FAM50B gene

Intellectual Propertyfor FAM50B gene

Productsfor FAM50B gene

View Random Gene

Aliases
for FAM50B gene

Summaries
for FAM50B gene

Genomic Views
for FAM50B gene

Proteins
for FAM50B gene

Protein Domains /
Families
for FAM50B gene

Function
for FAM50B gene

Pathways & Interactions
for FAM50B gene

Drugs & Compounds
for FAM50B gene

Transcripts
for FAM50B gene

Expression
for FAM50B gene

Orthologs
for FAM50B gene

Paralogs
for FAM50B gene

Genomic Variants
for FAM50B gene

Disorders / Diseases
for FAM50B gene

Publications
for FAM50B gene

Intellectual Property
for FAM50B gene

Products
for FAM50B gene