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

SH2D6 Gene

protein-coding   GIFtS: 37
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)
About This Section

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

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

Export aliases for SH2D6 gene to outside databases

Previous GC identifers: GC02P085514 GC02P085518 GC02P085559


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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SH2D6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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 

SH2D6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SH2D6 Protein Expression

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)
About This Section
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,
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

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

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


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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 SH2D6

(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 SH2D6

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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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 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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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_198482 NM_201594 AY517502 AX748047 AF450483 AK093312 AW293325 
AW374393 AW293024 

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™, 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

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


See SH2D6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SH2D6

SOURCE GeneReport for Unigene cluster: Hs.209542
    SABiosciences Custom PCR Arrays for SH2D6
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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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SH2D6 gene from 3/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sh2d61 , 5 SH2 domain containing 61, 5 73.33(n)1
68.57(a)1
  6 (32.27 cM)5
711301  XM_355785.51  XP_355785.31 
 725136445 
lizard
(Anolis carolinensis)
Reptilia SH2D66
SH2 domain containing 6
49(a)
1 ↔ 1
GL343545.1(432918-437386)
zebrafish
(Danio rerio)
Actinopterygii SH2D66
SH2 domain containing 6
35(a)
1 ↔ 1
8(2290123-2302348)


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)
About This Section
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) 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

10/100 SNPs in SH2D6 are shown (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

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(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

SH2D6 for disorders           About MalaCards

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)
About This Section

PubMed articles for SH2D6 gene integrated from 9 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. (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. (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. (2005)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
  5. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

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

(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 SH2D6 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 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, 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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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