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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM57B Gene

protein-coding GIFtS: 46
GCID: GC16M030035

family with sequence similarity 57, member B

Search for FAM57B
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 57, Member B¹ ²
DKFZP434I2117¹
Protein FAM57B²

External Ids:	HGNC: 25295¹	Entrez Gene: 83723²	Ensembl: ENSG00000149926⁷	UniProtKB: Q71RH2³

Export aliases for FAM57B gene to outside databases

Previous GC identifers: GC16M029944 GC16M027697

(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 FAM57B

(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_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAM57B gene promoter:
GR MAZR Sp1 GR-beta MIF-1 Evi-1 YY1 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM57B promoter sequence

Search SABiosciences Chromatin IP Primers for FAM57B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM57B

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

Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p11.2

FAM57B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM57B gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M030035: view genomic region (about GC identifiers)

Start:	30,035,748 bp from pter	End:	30,064,299 bp from pter
Size:	28,552 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: FA57B_HUMAN, Q71RH2 (See protein sequence)

Recommended Name: Protein FAM57B

Size: 274 amino acids; 30629 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Secondary accessions: Q9H0J1

Alternative splicing: 2 isoforms: Q71RH2-1 Q71RH2-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM57B: NX_Q71RH2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q71RH2

FAM57B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_113666.2

ENSEMBL proteins:

ENSP00000279389 ENSP00000369863 ENSP00000457769 ENSP00000457712 ENSP00000456854

ENSP00000458640

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	Uscn Proteins for FAM57B

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:0005783	endoplasmic reticulum	IDA	--
GO:0016021	integral to membrane	IEA	--

FAM57B 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

FAM57B for domains About GeneDecksing

1 InterPro domain/family:

IPR006634 TLC-dom

Graphical View of Domain Structure for InterPro Entry Q71RH2

ProtoNet protein and cluster: Q71RH2

1 Blocks protein family: IPB006634 TRAM

UniProtKB/Swiss-Prot: FA57B_HUMAN, Q71RH2

Similarity: Contains 1 TLC (TRAM/LAG1/CLN8) 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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In Situ Assay
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1 GenomeRNAi human phenotype for FAM57B:

Increased gamma-H2AX phosphory

(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 FAM57B

2 Interacting proteins for FAM57B (Q71RH2³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NF2	P35240³	I2D: score=4
MAT2A	P31153³	I2D: score=3

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

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Browse Tocris compounds for FAM57B
Search CenterWatch for drugs/clinical trials and news about FAM57B / FA57B

(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,
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About This Section

REFSEQ mRNAs for FAM57B gene:

NM_031478.4

Unigene Cluster for FAM57B:

Family with sequence similarity 57, member B

Hs.558560 [show with all ESTs]

Unigene Representative Sequence: NM_031478

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

ENST00000279389 ENST00000380495(uc002dvt.3) ENST00000564806 ENST00000569508

ENST00000561666 ENST00000567037(uc002dvv.1) ENST00000571269

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		hsa-miR-3163 hsa-miR-3607-3p hsa-miR-3065-3p hsa-miR-765 hsa-miR-29c hsa-miR-29a hsa-miR-3918 hsa-miR-145*

		SwitchGear 3'UTR luciferase reporter plasmid: FAM57B 3' UTR sequence

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Additional cDNA sequence:

AB593089.1 AB593090.1 AF370365.1 AL136777.1 BC007892.2

10 DOTS entries:

DT.409775 DT.99935515 DT.100675514 DT.100752028 DT.40227635 DT.91700114 DT.97846531 DT.100752027

DT.100752031 DT.86858632

24/102 AceView cDNA sequences (see all 102):

AL136777 CR604281 CR614964 BX089025 BM674892 AA621278 BQ638599 BM664500

AL565653 NM_031478 F12595 CR615686 BQ636792 BU729278 BU728829 BQ635866

AI580815 BM564876 BC007892 BM563955 BU195682 BF312781 BM461595 BU176054

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for FAM57B About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b
SP1:
SP2:

ECgene alternative splicing isoforms for FAM57B

(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

FAM57B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCTGGTGC

About this image

FAM57B 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: 1 LifeMap Cell

Name

Category

Epiblast-like cells (Reconstitution of mo...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM57B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM57B

SOURCE GeneReport for Unigene cluster: Hs.558560

SABiosciences Custom PCR Arrays for FAM57B

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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 FAM57B gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fam57b^{1 , 5}	family with sequence similarity 57, member B^{1, 5}	83.52(n)¹ 86.89(a)¹		7 (69.25 cM)⁵ 68952¹ NM_026884.1¹ NP_081160.1¹ 126816885⁵
lizard (Anolis carolinensis)	Reptilia	FAM57B⁶	--	71(a)	1 ↔ 1	GL343279.1(284460-290691)
African clawed frog (Xenopus laevis)	Amphibia	Xl.32611²	Xenopus laevis transcribed sequences	76.11(n)		CB209529.1
zebrafish (Danio rerio)	Actinopterygii	wufb95d07²	wufb95d07	75.81(n)		323326 BC059567.1
fruit fly (Drosophila melanogaster)	Insecta	CG17841¹	CG17841	50.57(n) 36.21(a)		31965 NM_132394.2 NP_572622.1

ENSEMBL Gene Tree for FAM57B (if available)
TreeFam Gene Tree for FAM57B (if available)

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

Paralogs for FAM57B gene

FAM57A²

1 SIMAP similar gene for FAM57B using alignment to 6 protein entries: FA57B_HUMAN (see all proteins):

FAM57A

FAM57B 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 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200165937^1,2		--	30035277(+)	`CTTCAC/TTGGGC`	3	--	int¹		0	--	--	--	--
rs151322638^1,2	C,	--	30035483(+)	`CTAGCA/GGGGCA`	3	--	int¹		0	--	--	--	--
rs76298536^1,2	F,	--	30035632(+)	`CTTTCC/TTCCTC`	3	--	int¹ ut3¹		1		WA	118
rs140679582^1,2		--	30035733(+)	`CTTGGC/TGGCAA`	3	--	int¹ ut3¹		0	--	--	--	--
rs72791208^1,2	C,F,	--	30035806(+)	`TCCCCC/TGNNNN`	3	--	ut3¹		1		NA	120
rs144426519^1,2		--	30035871(+)	`AGGGCA/GCGATG`	3	--	ut3¹		0	--	--	--	--
rs1129062^1,2	C,F,A,H,	--	30035998(-)	`TTTATT/CTACCC`	3	--	ut3¹		10		MN NS NA	1082
rs74400203^1,2	C,F,	--	30036049(+)	`GGAGCC/TGNNNN`	3	--	ut3¹ ds500¹		2		WA NA	238
rs79797644^1,2		--	30036117(+)	`CCTCTC/TGGGTG`	3	--	ut3¹ ds500¹		1		WA	118
rs190450152^1,2		--	30036525(+)	`CAGGCC/TGGGGG`	2	P	syn¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FAM57B (30035748 - 30064299 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FAM57B
1 CNV: 35383

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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 FAM57B gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM57B)

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

Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2, 3} Wiemann S.... Poustka A. (2001)
Fam57b (Family with Sequence Similarity 57, Member B), a Novel Peroxisome Proliferator-activated Receptor g Target Gene That Regulates Adipogenesis through Ceramide Synthesis. (PubMed id 23275342)^{1, 3} Yamashita-Sugahara Y....Okazaki Y. (2013)
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)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)^{1, 2} Wan D....Gu J. (2004)
Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)¹ Oshikawa M.... Kato S. (2011)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
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)

(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: 83723	HGNC: 25295	AceView: DKFZP434I2117	Ensembl:ENSG00000149926	euGenes: HUgn83723
ECgene: FAM57B	H-InvDB: FAM57B

(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 FAM57B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM57B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM57B gene:
Search GeneIP for patents involving FAM57B

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),
In Situ Hybridization Assays from
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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 FAM57B gene at Home site.

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FAM57B Gene

family with sequence similarity 57, member B

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for FAM57B gene

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for FAM57B gene

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Export list of displayed genes

FAM57B Gene

family with sequence similarity 57, member B

Aliasesfor FAM57B gene

Summariesfor FAM57B gene

Genomic Viewsfor FAM57B gene

Proteinsfor FAM57B gene

Protein Domains /Familiesfor FAM57B gene

Functionfor FAM57B gene

Pathways & Interactionsfor FAM57B gene

Drugs & Compoundsfor FAM57B gene

Transcriptsfor FAM57B gene

Expression for FAM57B gene

Orthologsfor FAM57B gene

Paralogsfor FAM57B gene

Genomic Variantsfor FAM57B gene

Disorders / Diseasesfor FAM57B gene

Publicationsfor FAM57B gene

External Searches for FAM57B gene

Genome Databases showing FAM57B gene

Other Databases showing FAM57B gene

Specialized Databases showing FAM57B gene

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Productsfor FAM57B gene

View Random Gene

Aliases
for FAM57B gene

Summaries
for FAM57B gene

Genomic Views
for FAM57B gene

Proteins
for FAM57B gene

Protein Domains /
Families
for FAM57B gene

Function
for FAM57B gene

Pathways & Interactions
for FAM57B gene

Drugs & Compounds
for FAM57B gene

Transcripts
for FAM57B gene

Expression
for FAM57B gene

Orthologs
for FAM57B gene

Paralogs
for FAM57B gene

Genomic Variants
for FAM57B gene

Disorders / Diseases
for FAM57B gene

Publications
for FAM57B gene

Intellectual Property
for FAM57B gene

Products
for FAM57B gene