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C14orf164 Gene

protein-coding   GIFtS: 25
GCID: GC14P023786

Chromosome 14 Open Reading Frame 164

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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
Chromosome 14 Open Reading Frame 1641 2
RING Finger Protein C14orf1642
RING Finger Protein C14orf164-Like2

External Ids:    HGNC: 204381   Entrez Gene: 1005076502   Ensembl: ENSG000002152777   UniProtKB: A8MTL33   

Export aliases for C14orf164 gene to outside databases

Previous GC identifers: GC00U913089 GC14U900447 GC14P023656 GC14P023657


(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 C14orf164 Gene:
C14orf164 (chromosome 14 open reading frame 164) is a protein-coding gene. An important paralog of this gene is RNF212.


(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for C14orf164
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C14orf164

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C14orf164


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

C14orf164 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C14orf164 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P023786:  view genomic region     (about GC identifiers)

Start:
23,654,525 bp from pter      End:
23,742,686 bp from pter
Size:
88,162 bases      Orientation:
plus 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: CN164_HUMAN, A8MTL3 (See protein sequence)
Recommended Name: RING finger protein C14orf164  
Size: 300 amino acids; 33570 Da
Sequence caution: Sequence=EB710205; Type=Frameshift; Positions=40;

Explore the universe of human proteins at neXtProt for C14orf164: NX_A8MTL3

Explore proteomics data for C14orf164 at MOPED


See C14orf164 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001269251.1  
ENSEMBL proteins: 
 ENSP00000382794   ENSP00000450766   ENSP00000382789   ENSP00000451124   ENSP00000397830  

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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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2 InterPro protein domains:
 IPR001841 Znf_RING
 IPR017907 Znf_RING_CS

Graphical View of Domain Structure for InterPro Entry A8MTL3

ProtoNet protein and cluster: A8MTL3

UniProtKB/Swiss-Prot: CN164_HUMAN, A8MTL3
Similarity: Contains 1 RING-type zinc finger


Find genes that share domains with C14orf164           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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008270zinc ion binding IEA--
     
Find genes that share ontologies with C14orf164           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C14orf164

miRNA
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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
nucleus3

(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 C14orf164
Interactions:

    Search GeneGlobe Interaction Network for C14orf164

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

Selected Interacting proteins for C14orf164 (ENSP000003978304) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
InteractantInteraction Details
GeneCardExternal ID(s)
RNF212ENSP000003897094STRING: ENSP00000389709
SPO11ENSP000003603104STRING: ENSP00000360310
UBE2IENSP000003248974STRING: ENSP00000324897
MRE11AENSP000003258634STRING: ENSP00000325863
MSH4ENSP000002631874STRING: ENSP00000263187
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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 C14orf164 (CN164)



(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 C14orf164 gene: 
NM_001282322.1  

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000399910 ENST00000492621 ENST00000498441 ENST00000399905 ENST00000470456
ENST00000492355 ENST00000470818 ENST00000463881 ENST00000430154
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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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C14orf164 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTCTCTCCC
C14orf164 Expression
About this image

C14orf164 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C14orf164 Protein Expression
    Custom PCR Arrays for C14orf164
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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)
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This gene was present in the common ancestor of animals.

Orthologs for C14orf164 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia LOC1026328371 RING finger protein C14orf164 homolog 84.85(n)
79.8(a)
  102632837  XM_006519866.1  XP_006519929.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1017350531 chromosome unknown open reading frame, human C14orf164 58.37(n)
51.11(a)
  101735053  XM_004911404.1  XP_004911461.1 
zebrafish
(Danio rerio)
Actinopterygii C2H14orf1646
chromosome 14 open reading frame 164
36(a)
1 ↔ 1
2(37980033-37984837) ENSDARG00000093723
worm
(Caenorhabditis elegans)
Secernentea D1081.96
zhp-36
Protein D1081.9 (D1081.9) mRNA, complete cds
Protein ZHP-3, isoform a (zhp-3) mRNA, complete cd...
22(a)
15(a)
many ↔ many
many ↔ many
I(8485810-8487043) WBGene00008387
I(8529381-8531338) WBGene00006976


ENSEMBL Gene Tree for C14orf164 (if available)
TreeFam Gene Tree for C14orf164 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C14orf164 gene
RNF2122  

Find genes that share paralogs with C14orf164           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 C14orf164 (see all 737)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2019497881,2
C--3824480(+) ATAAT-/C/CA  
 TCATCAT
AATAA
2 -- int1 cds10--------
rs2011835011,2
--3824483(+) ATAAT-/CAATAA 1 -- int10--------
rs801600331,2
C--3828633(+) GGCTGG/-CAGTG 1 -- int11Minor allele frequency- -:0.50CSA 2
rs783158261,2
C--3829585(-) GATCTC/TCTGAC 1 -- int11Minor allele frequency- T:0.50NA 2
rs1138737231,2
C--3843030(+) CACAA-/AAA   
  AAAT
/T
AAAAA
1 -- int11CSA 2
rs719621731,2
C--3843031(+) ACAAA-/TAAAAA 1 -- int10--------
rs1118946491,2
C--3845291(+) AATCCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
rs1484471751,2
C--3847836(+) TCTCA-/AAAC  
        
AAACA
1 -- int10--------
rs1479700721,2
--4702148(+) CTTTGC/GAATCA 1 -- us2k10--------
rs1833965871,2
--4702299(+) ACAGCA/GTACTG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C14orf164 (23654525 - 23742686 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for C14orf164: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C14orf164
DNA2.0 Custom Variant and Variant Library Synthesis for C14orf164

(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 C14orf164 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C14orf164)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
  2. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

(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: 100507650 HGNC: 20438 Ensembl:ENSG00000215277 euGenes: HUgn100507650 ECgene: C14orf164
H-InvDB: C14orf164

(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 C14orf164 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 C14orf164 gene:
Search GeneIP for patents involving C14orf164

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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