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FAM212B Gene

protein-coding   GIFtS: 38
GCID: GC01M112223

Family With Sequence Similarity 212, Member B

(Previous name: chromosome 1 open reading frame 183)
(Previous symbol: C1orf183)
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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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Family With Sequence Similarity 212, Member B1 2
C1orf1831 2 3
Chromosome 1 Open Reading Frame 1831
Protein FAM212B2
Uncharacterized Protein C1orf1832

External Ids:    HGNC: 280451   Entrez Gene: 559242   Ensembl: ENSG000001978527   UniProtKB: Q9NTI73   
ORGUL members:         

Export aliases for FAM212B gene to outside databases


(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 FAM212B Gene:
FAM212B (family with sequence similarity 212, member B) is a protein-coding gene. An important paralog of this gene is FAM212A.


(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:
   Search for regulatory transcription factor binding sites for FAM212B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FAM212B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM212B


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

Entrez Gene cytogenetic band: 1p13.2   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13.2

FAM212B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM212B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M112223:  view genomic region     (about GC identifiers)

Start:
112,223,252 bp from pter      End:
112,298,446 bp from pter
Size:
75,195 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: F212B_HUMAN, Q9NTI7 (See protein sequence)
Recommended Name: Protein FAM212B  
Size: 297 amino acids; 32759 Da
Secondary accessions: B3KP38 B4DF94 Q9NTI6
Alternative splicing: 2 isoforms:  Q9NTI7-1   Q9NTI7-2   

Explore the universe of human proteins at neXtProt for FAM212B: NX_Q9NTI7

Explore proteomics data for FAM212B at MOPED


See FAM212B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_061972.1  NP_945120.1  

ENSEMBL proteins: 
 ENSP00000349805   ENSP00000436075   ENSP00000408238   ENSP00000437205  

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(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:
 IPR026761 Fam212b

Graphical View of Domain Structure for InterPro Entry Q9NTI7

ProtoNet protein and cluster: Q9NTI7

UniProtKB/Swiss-Prot: F212B_HUMAN, Q9NTI7
Similarity: Belongs to the FAM212 family


Find genes that share domains with FAM212B           About GenesLikeMe


(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, 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:
     2 GenomeRNAi human phenotypes for FAM212B:
 Decreased viability with pacli  Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM212B
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miRNA
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miRTarBase miRNAs that target FAM212B:
hsa-mir-193b-3p (MIRT041456), hsa-mir-26b-5p (MIRT028801)

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Search for qRT-PCR Assays for microRNAs that regulate FAM212B
SwitchGear 3'UTR luciferase reporter plasmidFAM212B 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat FAM212B

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM212B


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(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 FAM212B
Interactions:

    Search GeneGlobe Interaction Network for FAM212B

1 Interacting protein for FAM212B (Q9NTI73) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TM2D1Q9BX743I2D: score=1 
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(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 FAM212B (F212B)



(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 FAM212B gene (2 alternative transcripts): 
NM_019099.4  NM_198926.2  

Unigene Cluster for FAM212B:

Family with sequence similarity 212, member B
Hs.193406  [show with all ESTs]
Unigene Representative Sequence: NM_019099
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000527570 ENST00000357260(uc001ebo.2 uc001ebp.2) ENST00000534365
ENST00000444059 ENST00000527621 ENST00000412270(uc001ebr.3) ENST00000527660

miRNA
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SwitchGear 3'UTR luciferase reporter plasmidFAM212B 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat FAM212B
Clone
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OriGene ORF clones in mouse, rat for FAM212B
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM212B
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM212B
Primer
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OriGene qPCR primer pairs and template standards for FAM212B
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  QuantiFast Probe-based Assays in human, mouse, rat FAM212B

Additional mRNA sequence: 

AK055667.1 AK092074.1 AK094997.1 AK293989.1 AL137198.1 AL137199.1 BC031558.1 

6 DOTS entries:

DT.438072  DT.91755599  DT.40212498  DT.121440569  DT.121440577  DT.95263414 

Selected AceView cDNA sequences (see all 31):

AL137199 AL137198 BE296090 BE297160 AK055667 BP372771 BX327535 BF305812 
CB117550 NM_019099 AA595469 BX506153 BI115206 NM_198926 BG394636 CA449552 
BF308793 BP374879 BC031558 BX341652 D20490 BP373359 BX498523 BI824357 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for FAM212B    About this scheme

ExUns: 1a · 1b ^ 2a · 2b · 2c
SP1:              -               
SP2:                              


ECgene alternative splicing isoforms for FAM212B

(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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FAM212B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
FAM212B Expression
About this image


FAM212B expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         Metencephalon
 
 Brain (Nervous System)
         Medulla Oblongata
FAM212B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM212B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.193406
    Custom PCR Arrays for FAM212B
Primer
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OriGene qPCR primer pairs and template standards for FAM212B
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QuantiFast Probe-based Assays in human, mouse, rat FAM212B
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM212B

(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 chordates.

Orthologs for FAM212B gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fam212b1 , 5 RIKEN cDNA 6530418L21 gene5
family with sequence similarity 212, member B1
80.13(n)1
79.8(a)1
  3 (46.44 cM)5
1090501  NM_175398.41  NP_780607.21 
 1057045995 
chicken
(Gallus gallus)
Aves C1ORF1831 chromosome 26 open reading frame, human C1orf183 62.85(n)
61.62(a)
  419868  XM_417995.4  XP_417995.4 
lizard
(Anolis carolinensis)
Reptilia FAM212B6
family with sequence similarity 212, member B
40(a)
1 ↔ 1
4(126669992-126711680)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.194952 Transcribed sequence with weak similarity to protein more 77.47(n)    BX779803.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1018868561 protein FAM212B-like 48.65(n)
38.16(a)
  101886856  XM_005167130.1  XP_005167187.1 


ENSEMBL Gene Tree for FAM212B (if available)
TreeFam Gene Tree for FAM212B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FAM212B gene
FAM212A2  

Find genes that share paralogs with FAM212B           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 FAM212B (see all 511)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1850130151,2
--112264189(+) GAAGCC/TGGGGA 2 -- ds50010--------
rs783816161,2
C,F--112264190(+) AAGCCG/AGGGAC 2 -- ds50012Minor allele frequency- A:0.10CSA WA 120
rs20765911,2
C,F,H--112264274(+) GCATAT/CGGTGA 2 -- ds500135Minor allele frequency- C:0.25EA NA NS WA CSA 4888
rs775811001,2
F--112264295(+) CCCCTT/GGTCAA 2 -- ds50011Minor allele frequency- G:0.04WA 118
rs794952271,2
C,F--112264379(+) ATTTTC/GAGGGG 2 -- ds50012Minor allele frequency- G:0.06NA 122
rs1906590661,2
--112264432(+) TGTGTC/GTGTGT 2 -- ds50010--------
rs1433514351,2
C--112264450(+) GTGGCA/GGGGAC 2 -- ds50010--------
rs20765921,2
C,F,O,H--112264540(+) GGGGCG/ACCCGT 2 -- ds500127Minor allele frequency- A:0.15EA NA NS WA 4376
rs762407111,2
C,F--112264553(+) ATGTGC/TATGTG 2 -- ds50011Minor allele frequency- T:0.14WA 118
rs1483699621,2
--112264637(+) GGGTAA/GAGAGC 2 -- ds50010--------

HapMap Linkage Disequilibrium report for FAM212B (112223252 - 112298446 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for FAM212B: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FAM212B
DNA2.0 Custom Variant and Variant Library Synthesis for FAM212B

(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 FAM212B gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with FAM212B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. Biochemical and computational analysis of LNX1 interacting proteins. (PubMed id 22087225)1 Wolting C.D....McGlade C.J. (PLoS ONE 2011)
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  4. Genetic variation in MicroRNA genes and risk of oral premalignant lesions. (PubMed id 19851984)1 Clague J....Wu X. (Mol. Carcinog. 2010)
  5. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PubMed id 19047128)1 Horikawa Y....Wu X. (Clin. Cancer Res. 2008)
  6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  9. 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)
  10. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 55924 HGNC: 28045 AceView: LOC55924 Ensembl:ENSG00000197852 euGenes: HUgn55924
ECgene: FAM212B H-InvDB: FAM212B

(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 FAM212B 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 FAM212B gene:
Search GeneIP for patents involving FAM212B

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, eBioscience, 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 inGenious Targeting Laboratory, 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

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