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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMIM12 Gene

protein-coding   GIFtS: 32
GCID: GC01M035179

Small Integral Membrane Protein 12

(Previous name: chromosome 1 open reading frame 212)
(Previous symbol: C1orf212)
  Search for SMIM12
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Small Integral Membrane Protein 121 2
C1orf2121 2 3
Chromosome 1 Open Reading Frame 2121
Alternative Protein C1orf2122
UPF0767 Protein C1orf2122

External Ids:    HGNC: 251541   Entrez Gene: 1134442   Ensembl: ENSG000001638667   UniProtKB: Q96EX13   

Export aliases for SMIM12 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SMIM12 Gene: 
SMIM12 (small integral membrane protein 12) is a protein-coding gene.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SMIM12
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SMIM12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMIM12


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

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

SMIM12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMIM12 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M035179:  view genomic region     (about GC identifiers)

Start:
35,178,338 bp from pter      End:
35,325,417 bp from pter
Size:
147,080 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SIM12_HUMAN, Q96EX1 (See protein sequence)
Recommended Name: Small integral membrane protein 12  
Size: 92 amino acids; 10799 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=AAH11880.2; Type=Erroneous translation; Note=Wrong choice of frame;
Sequence=AAH73851.2; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=AAH93838.1; Type=Erroneous
translation; Note=Wrong choice of frame; Sequence=AAI07422.2; Type=Erroneous translation; Note=Wrong choice of
frame; Sequence=AAI12232.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=BAC11246.1;
Type=Erroneous translation; Note=Wrong choice of frame; Sequence=EAX07437.1; Type=Erroneous gene model
prediction; Sequence=EAX07438.1; Type=Erroneous gene model prediction; Sequence=EAX07439.1; Type=Erroneous gene
model prediction;
Secondary accessions: D3DPR5 Q49AP7 Q52LP9 Q8NCB4

Explore the universe of human proteins at neXtProt for SMIM12: NX_Q96EX1

Explore proteomics data for SMIM12 at MOPED 

SMIM12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SMIM12 Protein Expression

REFSEQ proteins (3 alternative transcripts): 
NP_001158296.1  NP_001158297.1  NP_612437.3  

ENSEMBL proteins: 
 ENSP00000429902   ENSP00000428585   ENSP00000430285   ENSP00000430198   ENSP00000428984  
 ENSP00000428541  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--

SMIM12 for ontologies           About GeneDecksing



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

ProtoNet protein and cluster: Q96EX1

UniProtKB/Swiss-Prot: SIM12_HUMAN, Q96EX1
Similarity: Belongs to the SMIM12 family


(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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Phenotypes:
     1 GenomeRNAi human phenotype for SMIM12:
 Decreased cell number 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for SMIM12 
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMIM12

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SMIM12 (SIM12)

Search CenterWatch for drugs/clinical trials and news about SMIM12 / SIM12

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SMIM12 gene (3 alternative transcripts): 
NM_001164824.1  NM_001164825.1  NM_138428.5  

Unigene Clusters for SMIM12:

Small integral membrane protein 12
Hs.27160  [show with all ESTs], Hs.661594  [show with all ESTs]
Unigene Representative Sequences: NM_001164824, BX648912
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000426886 ENST00000521580(uc021olc.1 uc021old.1 uc001byb.3)
ENST00000446026 ENST00000456842 ENST00000423898 ENST00000417239
miRNA
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Inhib. RNA
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Additional mRNA sequence: BX648912.1 

10 DOTS entries:

DT.415100  DT.406269  DT.91637763  DT.92425959  DT.436596  DT.40285877  DT.100754357  DT.40275101 
DT.95270638  DT.445422 

24/181 AceView cDNA sequences (see all 181):

BQ434909 BF432512 BE350024 CB530033 BM843300 BE388676 AI423951 CA389995 
BQ070580 BX648912 BU902025 BC011880 CA443429 BE253327 CD677971 Z42527 
BX345104 BM782513 AI080133 BI667162 AA031564 AL709970 CD674208 BE504811 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SMIM12    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e
SP1:                                      -                                       
SP2:                    -     -     -     -     -                                 
SP3:                          -     -     -     -                                 
SP4:                                -     -     -                                 
SP5:                                            -                                 


ECgene alternative splicing isoforms for SMIM12

(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
See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --


See SMIM12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMIM12

SOURCE GeneReport for Unigene clusters: Hs.27160 Hs.661594
    SABiosciences Custom PCR Arrays for SMIM12
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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMIM12

(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 SMIM12 gene from 5/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Smim125
BC0032661
cDNA sequence BC0032661, 5 89.49(n)1
95.65(a)1
  4 (61.41 cM)5
802841  NM_030252.21  NP_084528.11 
 1272437845 
chicken
(Gallus gallus)
Aves LOC1008580281 uncharacterized LOC100858028 76.81(n)
82.61(a)
  100858028  XM_003642570.1  XP_003642618.1 
lizard
(Anolis carolinensis)
Reptilia C1ORF2126
Uncharacterized protein
78(a)
1 ↔ 1
GL343594.1(244846-245127)
African clawed frog
(Xenopus laevis)
Amphibia Xl.187452 Xenopus laevis transcribed sequence with moderate similarity more 74.57(n)    BI477826.1 
zebrafish
(Danio rerio)
Actinopterygii wufi25c112 wufi25c11 76.06(n)   333986  AW153756.1 


ENSEMBL Gene Tree for SMIM12 (if available)
TreeFam Gene Tree for SMIM12 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SMIM12 gene
1 SIMAP similar gene for SMIM12 using alignment to 2 protein entries:     SIM12_HUMAN (see all proteins):
C1orf212

SMIM12 for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for SMIM12
PGOHUM00000257045 PGOHUM00000257165


(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) 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

10/269 SNPs in SMIM12 are shown (see all 269)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs109083061,2
C,F,A--35315501(+) aatggC/Tgtgaa 3 -- int14Minor allele frequency- T:0.12NA WA 8
rs1395082541,2
--35315584(+) CGTCT-/CAA   
   AAAAA
AAAAA
3 -- int10--------
rs105642341,2
C--35315603(+) aaaaa-/AA/AAAAAA
AA
/AAAAAAAAA
aaaaa
6 -- int1 cds11NA 2
rs1379604601,2
--35315672(+) AGGGCC/TGGGCG 3 -- int10--------
rs1435256201,2
--35315717(+) CAGCTC/TAGGCT 3 -- int10--------
rs1472915441,2
C--35315719(+) GCTTAG/TGCTCA 3 -- int10--------
rs67039791,2
C,F,A,H--35315737(+) AGAAAC/TGGAAT 3 -- int128Minor allele frequency- T:0.45NS EA NA WA CSA 2769
rs1809348961,2
--35315767(+) GAAGAA/CACTGG 3 -- int10--------
rs112639191,2
C,F,A,H--35315919(+) GCCAGA/GGTTTA 3 -- int111Minor allele frequency- G:0.45NA WA CSA EA 373
rs30121,2
C,F,A,H--35316050(+) ACACCG/AGTTAC 3 -- ut3112Minor allele frequency- A:0.46MN NA WA CSA EA 557

HapMap Linkage Disequilibrium report for SMIM12 (35178338 - 35325417 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for SMIM12: --
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing SMIM12
DNA2.0 Custom Variant and Variant Library Synthesis for SMIM12

(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.)
About This Section
  --

(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 SMIM12 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SMIM12)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
  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. (2002)
  3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
  6. 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. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 113444 HGNC: 25154 AceView: LOC113444 Ensembl:ENSG00000163866 euGenes: HUgn113444
ECgene: SMIM12 H-InvDB: SMIM12

(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
NameDescription
PharmGKB entry for SMIM12 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for SMIM12 gene:
Search GeneIP for patents involving SMIM12

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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