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FAM71F2 Gene

protein-coding   GIFtS: 40
GCID: GC07P128312

Family With Sequence Similarity 71, Member F2

(Previous names: family with sequence similarity 137, member B)
(Previous symbol: FAM137B)
  See related diseases
at  

(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 71, Member F21 2
FAM137B1 2 3
Family With Sequence Similarity 137, Member B1 2
Protein FAM71F22
Protein FAM137B3

External Ids:    HGNC: 279981   Entrez Gene: 3466532   Ensembl: ENSG000002050857   UniProtKB: Q6NXP23   

Export aliases for FAM71F2 gene to outside databases

Previous GC identifers: GC07P128101 GC07P122672


(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 FAM71F2 Gene:
FAM71F2 (family with sequence similarity 71, member F2) is a protein-coding gene. Diseases associated with FAM71F2 include testicular cancer, and seminoma. An important paralog of this gene is FAM71E2.


(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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM71F2 gene promoter:
         AREB6   FAC1   POU2F1   GCNF   GCNF-1   POU2F1a   COUP   HNF-4alpha2   GCNF-2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM71F2 promoter sequence
   Search Chromatin IP Primers for FAM71F2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM71F2


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

Entrez Gene cytogenetic band: 7q32.1   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q32.1

FAM71F2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM71F2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128312:  view genomic region     (about GC identifiers)

Start:
128,312,342 bp from pter      End:
128,326,929 bp from pter
Size:
14,588 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,695,344-127,706,372     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F71F2_HUMAN, Q6NXP2 (See protein sequence)
Recommended Name: Protein FAM71F2  
Size: 309 amino acids; 34516 Da
Secondary accessions: Q0VGF6 Q0VGF7 Q86X39
Alternative splicing: 2 isoforms:  Q6NXP2-1   Q6NXP2-2   

Explore the universe of human proteins at neXtProt for FAM71F2: NX_Q6NXP2

Explore proteomics data for FAM71F2 at MOPED


See FAM71F2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_001012457.3  NP_001122398.1  NP_001277183.1  NP_001277184.1  

ENSEMBL proteins: 
 ENSP00000418907   ENSP00000420140   ENSP00000401654   ENSP00000419649   ENSP00000367976  

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Cloud-Clone Corp. CLIAs for FAM71F2


(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:
 IPR022168 DUF3699

Graphical View of Domain Structure for InterPro Entry Q6NXP2

ProtoNet protein and cluster: Q6NXP2

UniProtKB/Swiss-Prot: F71F2_HUMAN, Q6NXP2
Similarity: Belongs to the FAM71 family


FAM71F2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM71F2
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miRTarBase miRNAs that target FAM71F2:
hsa-mir-335-5p (MIRT017027)

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2 qRT-PCR Assays for microRNAs that regulate FAM71F2:
hsa-miR-3165 hsa-miR-3190
SwitchGear 3'UTR luciferase reporter plasmidFAM71F2 3' UTR sequence
Inhib. RNA
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(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
cytoskeleton2
cytosol1
nucleus1
peroxisome1
plasma membrane1

(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 FAM71F2
Interactions:

    Search GeneGlobe Interaction Network for FAM71F2

(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 FAM71F2 (F71F2)



(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FAM71F2 gene (4 alternative transcripts): 
NM_001012454.5  NM_001128926.3  NM_001290254.1  NM_001290255.1  

Unigene Cluster for FAM71F2:

Family with sequence similarity 71, member F2
Hs.445236  [show with all ESTs]
Unigene Representative Sequence: BC047310
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000460349 ENST00000474069(uc003vnl.3) ENST00000480462(uc003vnk.4 uc010lln.2)
ENST00000434001 ENST00000477515 ENST00000461131 ENST00000378704(uc010llm.1)

miRNA
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2 qRT-PCR Assays for microRNAs that regulate FAM71F2:
hsa-miR-3165 hsa-miR-3190
SwitchGear 3'UTR luciferase reporter plasmidFAM71F2 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat FAM71F2
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat FAM71F2

Additional mRNA sequence: 

BC047310.1 BC066973.1 BC105729.1 BC105730.1 BC105731.1 

3 DOTS entries:

DT.100691758  DT.95263948  DT.402931 

16 AceView cDNA sequences:

BC066973 BQ010359 AI687340 BI828639 BV205241 BI831025 AI203852 BC047310 
AI126168 BI828876 AA757228 BQ346951 BI461780 BF725233 AA725655 AW592366 

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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FAM71F2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGATTTGGGC
FAM71F2 Expression
About this image

FAM71F2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM71F2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.445236
    Custom PCR Arrays for FAM71F2
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM71F2

(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 human and mouse.

Orthologs for FAM71F2 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fam71f21 , 5 family with sequence similarity 71, member F21, 5 82.32(n)1
73.65(a)1
  6 (12.36 cM)5
2458841  NM_001101486.11  NP_001094956.11 
 292795935 


ENSEMBL Gene Tree for FAM71F2 (if available)
TreeFam Gene Tree for FAM71F2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FAM71F2 gene
FAM71E22  FAM71E12  FAM71B2  FAM71D2  FAM71C2  FAM71A2  ENSG000002677062  FAM71F12  
1 SIMAP similar gene for FAM71F2 using alignment to 2 protein entries:     F71F2_HUMAN (see all proteins):
FAM71F1

FAM71F2 for paralogs           About GeneDecksing



(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 FAM71F2 (see all 384)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs125362881,2
C,H--128310406(+) cctccA/Cacctc 2 -- us2k10--------
rs1439325681,2
--128310455(+) CACCCA/GGGTAA 2 -- us2k10--------
rs69694621,2
C,F,A--128310483(+) gagacG/Aaggtt 2 -- us2k13Minor allele frequency- A:0.33NA 6
rs569166161,2
C,F--128310554(+) CTCCTG/AAAGTG 2 -- us2k12Minor allele frequency- A:0.50NA 4
rs1812079401,2
--128310596(+) GCCTTA/GTAATA 2 -- us2k10--------
rs1442417851,2
C--128310620(+) ATTTCA/GTATGA 2 -- us2k10--------
rs69695541,2
C,F,A,H--128310797(+) ttggaA/Gcttta 2 -- us2k113Minor allele frequency- G:0.33NS EA NA WA CSA 790
rs1854810061,2
--128310818(+) AATGAC/TGTGGG 2 -- us2k10--------
rs757468141,2
C--128310834(+) TCTTCG/ACTAAA 2 -- us2k14Minor allele frequency- A:0.10NA WA EA 360
rs1510653441,2
--128310856(+) TTCAAA/GTACTG 2 -- us2k10--------

HapMap Linkage Disequilibrium report for FAM71F2 (128312342 - 128326929 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for FAM71F2:    About this table    
Variant IDTypeSubtypePubMed ID
esv2735137CNV Deletion23290073
esv2670312CNV Deletion23128226

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing FAM71F2
DNA2.0 Custom Variant and Variant Library Synthesis for FAM71F2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for FAM71F2:    
About MalaCards
testicular cancer    seminoma

2 diseases from the University of Copenhagen DISEASES database for FAM71F2:
Seminoma     Testicular cancer

FAM71F2 for disorders           About GeneDecksing


Export disorders for FAM71F2 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)
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PubMed articles for FAM71F2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with FAM71F2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
  2. 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)
  3. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PubMed id 17672918)1 Szafranski K....Platzer M. (Genome Biol. 2007)
  4. 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. (Genome Res. 2004)
  5. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)

(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: 346653 HGNC: 27998 AceView: LOC346653 Ensembl:ENSG00000205085 euGenes: HUgn346653
ECgene: FAM71F2 H-InvDB: FAM71F2

(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 FAM71F2 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 FAM71F2 gene:
Search GeneIP for patents involving FAM71F2

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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM71F2
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM71F2
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAM71F2
 Search LSBio for Antibodies for FAM71F2
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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

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