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SH2D6 Gene

protein-coding   GIFtS: 40
GCID: GC02P085645

SH2 Domain Containing 6

  Search for SH2D6
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
SH2 Domain Containing 61 2
SH2 Domain-Containing Protein 62

External Ids:    HGNC: 304391   Entrez Gene: 2849482   Ensembl: ENSG000001522927   UniProtKB: Q7Z4S93   
ORGUL members:         

Export aliases for SH2D6 gene to outside databases

Previous GC identifers: GC02P085514 GC02P085518 GC02P085559


(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 SH2D6 Gene:
SH2D6 (SH2 domain containing 6) is a protein-coding gene. An important paralog of this gene is BLNK.


(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_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH2D6 gene promoter:
         GR   HOXA9B   HOXA9   AML1a   GR-beta   Meis-1b   HSF2   GR-alpha   NF-E2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH2D6 promoter sequence
   Search Chromatin IP Primers for SH2D6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH2D6


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

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

SH2D6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2D6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P085645:  view genomic region     (about GC identifiers)

Start:
85,645,844 bp from pter      End:
85,664,152 bp from pter
Size:
18,309 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SH2D6_HUMAN, Q7Z4S9 (See protein sequence)
Recommended Name: SH2 domain-containing protein 6  
Size: 175 amino acids; 19279 Da
Secondary accessions: A6ND14 Q6R306
Alternative splicing: 2 isoforms:  Q7Z4S9-1   Q7Z4S9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH2D6: NX_Q7Z4S9

Explore proteomics data for SH2D6 at MOPED


See SH2D6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_940884.1  
ENSEMBL proteins: 
 ENSP00000374588   ENSP00000341867  

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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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HGNC Gene Families:
SH2D: SH2 domain containing

1 InterPro protein domain:
 IPR000980 SH2

Graphical View of Domain Structure for InterPro Entry Q7Z4S9

ProtoNet protein and cluster: Q7Z4S9

1 Blocks protein domain: IPB000980 SH2 domain signature

UniProtKB/Swiss-Prot: SH2D6_HUMAN, Q7Z4S9
Similarity: Contains 1 SH2 domain


SH2D6 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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
SH2D6 for ontologies           About GeneDecksing


Animal Models:
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hsa-miR-4272
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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
nucleus2
cytosol1
extracellular1
mitochondrion1
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 SH2D6
Interactions:

    Search GeneGlobe Interaction Network for SH2D6

(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 SH2D6



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SH2D6 gene: 
NM_198482.1  

Unigene Cluster for SH2D6:

SH2 domain containing 6
Hs.209542  [show with all ESTs]
Unigene Representative Sequence: AY517502
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000469800 ENST00000389938(uc002spo.3) ENST00000488657 ENST00000474753
ENST00000481395 ENST00000481426(uc002spp.3) ENST00000477170 ENST00000340326(uc002spq.3)
ENST00000488219
miRNA
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hsa-miR-4272
SwitchGear 3'UTR luciferase reporter plasmidSH2D6 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: 

AF450483.1 AK093312.1 AY517502.1 BC110073.1 

3 DOTS entries:

DT.75170998  DT.99999118  DT.120985617 

10 AceView cDNA sequences:

AL040160 NM_201594 AY517502 AX748047 AK093312 NM_198482 AF450483 AW293325 
AW293024 AW374393 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for SH2D6    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1:                          -           -     -                 -                     
SP2:                                                              -     -               
SP3:                                                                                    


ECgene alternative splicing isoforms for SH2D6

(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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SH2D6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCTCCCAGCC
SH2D6 Expression
About this image

SH2D6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SH2D6 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.209542
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2D6

(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 SH2D6 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sh2d61 , 5 SH2 domain containing 61, 5 82.85(n)1
78.26(a)1
  6 (32.27 cM)5
711301  XM_355785.61  XP_355785.41 
 725136445 
chicken
(Gallus gallus)
Aves SLP766
Gallus gallus lymphocyte cytosolic protein 2 (SH2 ...
9(a)
many ↔ many
13(3218332-3252473) ENSGALG00000002113
lizard
(Anolis carolinensis)
Reptilia SH2D66
SH2 domain containing 6
47(a)
1 ↔ 1
GL343545.1(432918-437386)
zebrafish
(Danio rerio)
Actinopterygii SH2D66
SH2 domain containing 6
37(a)
1 ↔ 1
8(2290123-2302348) ENSDARG00000090607


ENSEMBL Gene Tree for SH2D6 (if available)
TreeFam Gene Tree for SH2D6 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SH2D6 gene
BLNK2  LCP22  CLNK2  
1 SIMAP similar gene for SH2D6 using alignment to 2 protein entries:     SH2D6_HUMAN (see all proteins):
BASH

SH2D6 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 SH2D6 (see all 100)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs108654781,2
C,F,A,H--85660126(+) GAGGCG/ACCCTA 1 -- us2k113Minor allele frequency- A:0.36NA WA CSA EA 379
rs1140641501,2
C,F--85660253(+) AGCAGC/TCCCTC 1 -- us2k11Minor allele frequency- T:0.03WA 118
rs1831580911,2
C--85660316(+) TGGGGC/GCTAGG 1 -- us2k10--------
rs343066451,2
C,F--85660430(+) GTGCCG/ACCCAG 1 -- us2k15Minor allele frequency- A:0.22NA WA 246
rs1878097491,2
--85660507(+) GATGCC/TCCCTC 1 -- us2k10--------
rs119038131,2
C,F,H--85660530(+) GAAATT/AGTAAT 1 -- us2k14Minor allele frequency- A:0.13WA NA CSA 126
rs1932999121,2
--85660612(+) CGATGA/GCTCCT 1 -- us2k10--------
rs1141380641,2
C,F--85660894(+) TCACCG/ACATGG 1 -- us2k11Minor allele frequency- A:0.03WA 118
rs1151698851,2
C,F--85661000(+) GCTGCG/AGCCAG 1 -- us2k11Minor allele frequency- A:0.05WA 118
rs1181706051,2
F--85661050(+) CCAGGC/ATGCAG 1 -- us2k11Minor allele frequency- A:0.01EA 120

HapMap Linkage Disequilibrium report for SH2D6 (85645844 - 85664152 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SH2D6:    About this table    
Variant IDTypeSubtypePubMed ID
nsv834283CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SH2D6
DNA2.0 Custom Variant and Variant Library Synthesis for SH2D6

(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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SH2D6 for disorders           About GeneDecksing

Genetic Association Database (GAD): SH2D6

Export disorders for SH2D6 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 SH2D6 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SH2D6)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
  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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. (PubMed id )2 

(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: 284948 HGNC: 30439 AceView: LOC284948 Ensembl:ENSG00000152292 euGenes: HUgn284948
ECgene: SH2D6 H-InvDB: SH2D6

(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 SH2D6 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 SH2D6 gene:
Search GeneIP for patents involving SH2D6

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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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2D6
 SwitchGear 3'UTR luciferase reporter plasmids for SH2D6
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 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SH2D6
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH2D6
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