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FAM46B Gene

protein-coding   GIFtS: 41
GCID: GC01M027331

Family With Sequence Similarity 46, Member B

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Family With Sequence Similarity 46, Member B1 2
Protein FAM46B2

External Ids:    HGNC: 282731   Entrez Gene: 1155722   Ensembl: ENSG000001582467   UniProtKB: Q96A093   

Export aliases for FAM46B gene to outside databases

Previous GC identifers: GC01M027015 GC01M027204 GC01M025584


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM46B Gene:
FAM46B (family with sequence similarity 46, member B) is a protein-coding gene. An important paralog of this gene is FAM46D.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM46B gene promoter:
         AhR   RFX1   NRSF form 1   MIF-1   AP-2gamma   NRSF form 2   ARP-1   Msx-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM46B promoter sequence
   Search Chromatin IP Primers for FAM46B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM46B


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

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p35.3

FAM46B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM46B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M027331:  view genomic region     (about GC identifiers)

Start:
27,331,511 bp from pter      End:
27,339,333 bp from pter
Size:
7,823 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FA46B_HUMAN, Q96A09 (See protein sequence)
Recommended Name: Protein FAM46B  
Size: 425 amino acids; 46688 Da
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
Sequence caution: Sequence=AAH12790.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH14160.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI13555.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;

Explore the universe of human proteins at neXtProt for FAM46B: NX_Q96A09

Explore proteomics data for FAM46B at MOPED


See FAM46B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_443175.2  
ENSEMBL proteins: 
 ENSP00000289166  

FAM46B Human Recombinant Protein Products:

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antibodies-online proteins for FAM46B (3 products) 

 
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antibodies-online kits for FAM46B (8 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR012937 DUF1693

Graphical View of Domain Structure for InterPro Entry Q96A09

ProtoNet protein and cluster: Q96A09

UniProtKB/Swiss-Prot: FA46B_HUMAN, Q96A09
Similarity: Belongs to the FAM46 family


Find genes that share domains with FAM46B           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for FAM46B:
 Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for FAM46B

miRNA
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Selected qRT-PCR Assays for microRNAs that regulate FAM46B (see all 14):
hsa-miR-301b hsa-miR-4318 hsa-miR-301a hsa-miR-3666 hsa-miR-3922-3p hsa-miR-4295 hsa-miR-19b hsa-miR-454
SwitchGear 3'UTR luciferase reporter plasmidFAM46B 3' UTR sequence
Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM46B

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM46B


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol1
mitochondrion1
nucleus1
peroxisome1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FAM46B
Interactions:

    Search GeneGlobe Interaction Network for FAM46B

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

4 Interacting proteins for FAM46B (Q96A092, 3 ENSP000002891664) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ATXN1P542532, 3, ENSP000002447694MINT-2878252 I2D: score=3 STRING: ENSP00000244769
RHOXF2Q9BQY43, ENSP000003604414I2D: score=3 STRING: ENSP00000360441
DAZAP2Q150383, ENSP000004049684I2D: score=1 STRING: ENSP00000404968
GATA5ENSP000002529974STRING: ENSP00000252997
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for FAM46B (FA46B)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for FAM46B gene: 
NM_052943.3  

Unigene Cluster for FAM46B:

Family with sequence similarity 46, member B
Hs.632378  [show with all ESTs]
Unigene Representative Sequence: NM_052943
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000289166(uc010ofj.2)
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate FAM46B (see all 14):
hsa-miR-301b hsa-miR-4318 hsa-miR-301a hsa-miR-3666 hsa-miR-3922-3p hsa-miR-4295 hsa-miR-19b hsa-miR-454
SwitchGear 3'UTR luciferase reporter plasmidFAM46B 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for FAM46B
Predesigned siRNA for gene silencing in human, mouse, rat FAM46B
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Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM46B
  QuantiTect SYBR Green Assays in human, mouse, rat FAM46B
  QuantiFast Probe-based Assays in human, mouse, rat FAM46B

Additional mRNA sequence: 

AK122816.1 BC012790.2 BC014160.2 BC036320.1 

1 DOTS entry:

DT.409273 

Selected AceView cDNA sequences (see all 51):

BM673276 BX284002 BX403518 AI858199 BF725124 BC012790 BQ680273 NM_052943 
BU634206 BC014160 AK122816 BM707118 AI493205 CA313172 BC036320 BF725123 
AA045825 BU838922 AI202591 AA401786 W96191 BM017104 CA944965 BM042362 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FAM46B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGTAGGGGA
FAM46B Expression
About this image


FAM46B expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
         Human embryonic stem cells (family)
 
 NULL (Uncategorized)
         Mesenchymal Progenitor Cells - Passage 2
 
 Epidermis (Integumentary System)
 
 Testis (Reproductive System)
FAM46B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM46B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632378
    Custom PCR Arrays for FAM46B
Primer
Products:
OriGene qPCR primer pairs and template standards for FAM46B
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QuantiFast Probe-based Assays in human, mouse, rat FAM46B
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM46B

(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)
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This gene was present in the common ancestor of animals.

Orthologs for FAM46B gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fam46b1 , 5 family with sequence similarity 46, member B1, 5 87.22(n)1
91.76(a)1
  4 (66.25 cM)5
1003421  NM_175307.61  NP_780516.11 
 1334801325 
chicken
(Gallus gallus)
Aves FAM46B6
family with sequence similarity 46, member B
68(a)
1 ↔ 1
23(1850123-1854951)
lizard
(Anolis carolinensis)
Reptilia FAM46B6
family with sequence similarity 46, member B
63(a)
1 ↔ 1
GL343488.1(336807-355254)
zebrafish
(Danio rerio)
Actinopterygii fam46ba6
fam46bb6
family with sequence similarity 46, member Bb
67(a)
65(a)
1 ↔ many
1 ↔ many
16(36464082-36473792) ENSDARG00000039943
19(14006032-14020448) ENSDARG00000011797
fruit fly
(Drosophila melanogaster)
Insecta CG304976
--
25(a)
1 → many
2R(3624524-3670142)
worm
(Caenorhabditis elegans)
Secernentea pqn-446
Protein PQN-44, isoform c
35(a)
1 → many
I(5372851-5384508) WBGene00004131


ENSEMBL Gene Tree for FAM46B (if available)
TreeFam Gene Tree for FAM46B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FAM46B gene
FAM46D2  FAM46C2  FAM46A2  
4 SIMAP similar genes for FAM46B using alignment to 1 protein entry:     FA46B_HUMAN:
FAM46A    FAM46C    XTP11    FAM46D

Find genes that share paralogs with FAM46B           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for FAM46B (see all 223)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1915039671,2
--27331121(+) CCCAGC/GCTGTT 1 -- int10--------
rs1838842531,2
--27331180(+) GTACCC/TCTGAG 1 -- int10--------
rs1484898901,2
--27331182(+) ACCCCG/TGAGCA 1 -- int10--------
rs1441491191,2
--27331336(+) AGGCTA/GCGGCT 1 -- int10--------
rs1491688991,2
C--27331351(+) TTGGG-/AGAAGGAG 1 -- int10--------
rs1882626311,2
--27331442(+) AACTGC/GGGGAG 1 -- int10--------
rs1816014481,2
--27331588(+) GGGGTA/GGGAGT 1 -- ut310--------
rs1861746311,2
--27331657(+) ACTTGA/TCTGTG 1 -- ut310--------
rs749583921,2
C,F--27331765(+) GGGCTG/TCGACC 1 -- ut312Minor allele frequency- T:0.06WA NA 238
rs115201,2
C--27331793(+) CTCCTG/TTATAC 1 -- ut31 ese33Minor allele frequency- T:0.00MN NA 188

HapMap Linkage Disequilibrium report for FAM46B (27331511 - 27339333 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for FAM46B:    About this table    
Variant IDTypeSubtypePubMed ID
nsv870497CNV Loss21882294
nsv834535CNV Gain+Loss17160897

Site Specific Mutation Identification with 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.)
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  --

(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)
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PubMed articles for FAM46B gene integrated from 10 sources:
(articles sorted by number of sources associating them with FAM46B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  2. 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. (Genome Res. 2004)
  3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
  5. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
  6. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
  7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  9. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 115572 HGNC: 28273 AceView: FAM46B Ensembl:ENSG00000158246 euGenes: HUgn115572
ECgene: FAM46B H-InvDB: FAM46B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for FAM46B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FAM46B gene:
Search GeneIP for patents involving FAM46B

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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