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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM78B Gene

protein-coding GIFtS: 40
GCID: GC01M166027

family with sequence similarity 78, member B

Explore 4 diseases affiliated with
FAM78B 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 78, Member B¹ ²
Protein FAM78B²

External Ids:	HGNC: 13495¹	Entrez Gene: 149297²	Ensembl: ENSG00000188859⁷	UniProtKB: Q5VT40³

Export aliases for FAM78B gene to outside databases

Previous GC identifers: GC01M162772 GC01M164293 GC01M164305 GC01M137286

(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_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAM78B gene promoter:
Elk-1 STAT1 Pax-5 GATA-3 Pax-2 STAT1beta CUTL1 STAT1alpha N-Myc Pax-4a
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM78B

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

Entrez Gene cytogenetic band: 1q24.1 Ensembl cytogenetic band: 1q24.1 HGNC cytogenetic band: 1q24.1

FAM78B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM78B gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M166027: view genomic region (about GC identifiers)

Start:	166,026,674 bp from pter	End:	166,136,206 bp from pter
Size:	109,533 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: FA78B_HUMAN, Q5VT40 (See protein sequence)

Recommended Name: Protein FAM78B

Size: 261 amino acids; 29835 Da

Secondary accessions: B7Z693

Explore the universe of human proteins at neXtProt for FAM78B: NX_Q5VT40

FAM78B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001017961.1

ENSEMBL proteins:

ENSP00000412766 ENSP00000389945 ENSP00000393329 ENSP00000346404 ENSP00000339681

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

ProtoNet protein and cluster: Q5VT40

UniProtKB/Swiss-Prot: FA78B_HUMAN, Q5VT40

Similarity: Belongs to the FAM78 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

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1 GenomeRNAi human phenotype for FAM78B:

Increased S DNA content

(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 FAM78B

(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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Search CenterWatch for drugs/clinical trials and news about FAM78B / FA78B

(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 FAM78B gene:

NM_001017961.3

Unigene Cluster for FAM78B:

Family with sequence similarity 78, member B

Hs.133029 [show with all ESTs]

Unigene Representative Sequence: AB593134

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

ENST00000435676(uc001gdq.3 uc010plc.2 uc021pee.1) ENST00000456900

ENST00000441649 ENST00000354422 ENST00000338353(uc021pef.1)

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Additional cDNA sequence:

AB593134.1 AK055347.1 BC032900.2 BC114214.1

3 DOTS entries:

DT.304305 DT.40130519 DT.97807854

24/26 AceView cDNA sequences (see all 26):

BM714792 BM676774 CR613414 BM726180 BF510140 CD672898 BM682606 BM719916

BC032900 BG218787 BE388915 BM663586 AI440068 BF510138 AL558619 BU738951

BX387125 BF919367 AL526678 AL580399 BF919237 BM691105 AL526712 N73628

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

FAM78B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTGAGGGT

About this image

FAM78B 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)

Heart

Endocardium

Cushion Mesenchymal Cells

Endocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM78B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM78B

SOURCE GeneReport for Unigene cluster: Hs.133029

SABiosciences Custom PCR Arrays for FAM78B

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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 chordates.

Orthologs for FAM78B gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FAM78B¹	family with sequence similarity 78, member B	83.14(n) 89.66(a)		769830 XM_001232253.1 XP_001232254.1
lizard (Anolis carolinensis)	Reptilia	FAM78B⁶	--	89(a)	1 ↔ 1	4(73878753-73890115)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-228b23.3¹	si:ch211-228b23.3	75.35(n) 82.76(a)		796762 NM_001123313.1 NP_001116785.1

ENSEMBL Gene Tree for FAM78B (if available)
TreeFam Gene Tree for FAM78B (if available)

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

Paralogs for FAM78B gene

FAM78A²

1 SIMAP similar gene for FAM78B using alignment to 4 protein entries: FA78B_HUMAN (see all proteins):

FAM78A

FAM78B 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143651089^1,2	C,	other	166039754(+)	`CAGGTC/TGTGAA`	2	T	syn¹		0	--	--	--	--
rs146189793^1,2		--	166038791(+)	`AAAGAA/GGTGGG`	1	--	ds500¹		0	--	--	--	--
rs4528097^1,2	C,F,H,	--	166038795(+)	`AGGTGG/CGTAGA`	1	--	ds500¹		9		NS EA NA	960
rs145450472^1,2		--	166038799(+)	`GGGTAA/GACGGA`	1	--	ds500¹		0	--	--	--	--
rs148836996^1,2		--	166038801(+)	`GTAGAC/TGGAAC`	1	--	ds500¹		0	--	--	--	--
rs143494646^1,2		--	166038802(+)	`TAGACA/GGAACT`	1	--	ds500¹		0	--	--	--	--
rs61835088^1,2	C,F,	--	166038842(+)	`CACCTT/CGGACA`	1	--	ds500¹		5		NA WA EA	362
rs147997523^1,2		--	166038860(+)	`GGAGGC/TTTTCT`	1	--	ds500¹		0	--	--	--	--
rs74586087^1,2	F,	--	166038922(+)	`TCCATT/CGAGTG`	1	--	ds500¹		1		WA	118
rs4639733^1,2	C,F,A,H,	--	166038967(+)	`TATTAA/GTGTGT`	1	--	ds500¹		31		NS EA NA WA CSA	3196

HapMap Linkage Disequilibrium report for FAM78B (166026674 - 166136206 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FAM78B: --

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

FAM78B for disorders About GeneDecksing

4 diseases for FAM78B: About MalaCards

essential hypertension hypertension t-cell leukemia leukemia

Human Genome Epidemiology (HuGE) Navigator: FAM78B (2 documents)

Export disorders for FAM78B 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 FAM78B gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM78B)

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

The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
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)
Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)¹ Ehret G.B....Chakravarti A. (2009)
Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)¹ Cheung C.L....Kung A.W. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)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 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: 149297	HGNC: 13495	AceView: LOC149297	Ensembl:ENSG00000188859	euGenes: HUgn149297
ECgene: FAM78B	H-InvDB: FAM78B

(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 FAM78B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM78B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM78B gene:
Search GeneIP for patents involving FAM78B

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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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 FAM78B gene at Home site.

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FAM78B Gene

family with sequence similarity 78, member B

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for FAM78B gene

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for FAM78B gene

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for FAM78B gene

Protein Domains /
Families
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Function
for FAM78B gene

Pathways & Interactions
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Transcripts
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Expression
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FAM78B Gene

family with sequence similarity 78, member B

Aliasesfor FAM78B gene

Summariesfor FAM78B gene

Genomic Viewsfor FAM78B gene

Proteinsfor FAM78B gene

Protein Domains /Familiesfor FAM78B gene

Functionfor FAM78B gene

Pathways & Interactionsfor FAM78B gene

Drugs & Compoundsfor FAM78B gene

Transcriptsfor FAM78B gene

Expression for FAM78B gene

Orthologsfor FAM78B gene

Paralogsfor FAM78B gene

Genomic Variantsfor FAM78B gene

Disorders / Diseasesfor FAM78B gene

Publicationsfor FAM78B gene

External Searches for FAM78B gene

Genome Databases showing FAM78B gene

Other Databases showing FAM78B gene

Specialized Databases showing FAM78B gene

Intellectual Propertyfor FAM78B gene

Productsfor FAM78B gene

View Random Gene

Aliases
for FAM78B gene

Summaries
for FAM78B gene

Genomic Views
for FAM78B gene

Proteins
for FAM78B gene

Protein Domains /
Families
for FAM78B gene

Function
for FAM78B gene

Pathways & Interactions
for FAM78B gene

Drugs & Compounds
for FAM78B gene

Transcripts
for FAM78B gene

Expression
for FAM78B gene

Orthologs
for FAM78B gene

Paralogs
for FAM78B gene

Genomic Variants
for FAM78B gene

Disorders / Diseases
for FAM78B gene

Publications
for FAM78B gene

Intellectual Property
for FAM78B gene

Products
for FAM78B gene