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    SH2D6 SH2 domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 284948, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SH2D6provided by HGNC
    Official Full Name
    SH2 domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:30439
    See related
    Ensembl:ENSG00000152292 AllianceGenome:HGNC:30439
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLNK
    Summary
    Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway and intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 1.1), duodenum (RPKM 0.9) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH2D6 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85418714..85437029)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85420731..85439046)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85645837..85664152)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ELMO domain containing 3 Neighboring gene U7 small nuclear RNA Neighboring gene capping actin protein, gelsolin like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85628953-85629452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:85640593-85641094 Neighboring gene uncharacterized LOC105374841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85645284-85645819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85658733-85659404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85659405-85660075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85660076-85660746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85665369-85665885 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85665886-85666401 Neighboring gene RNA, 7SL, cytoplasmic 251, pseudogene Neighboring gene RNA, U7 small nuclear 64 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The human and mouse complement of SH2 domain proteins-establishing the boundaries of phosphotyrosine signaling. Liu BA, et al. Mol Cell, 2006 Jun 23. PMID 16793553
    2. ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. Loi E, et al. J Cell Mol Med, 2020 Jan. PMID 31800155, Free PMC Article
    3. A genome-wide association study identifies protein quantitative trait loci (pQTLs). Melzer D, et al. PLoS Genet, 2008 May 9. PMID 18464913, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.
      Title: ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35993

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    SH2 domain-containing protein 6
    Names
    SH2 linker protein related to BLNK

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001394463.1 → NP_001381392.1  SH2 domain-containing protein 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC016753, AC062037
      Consensus CDS
      CCDS92791.1
      UniProtKB/Swiss-Prot
      A0A8I5KXG6, A6ND14, Q6R306, Q7Z4S9
      UniProtKB/TrEMBL
      A0A494C0E1
      Related
      ENSP00000510308.1, ENST00000469800.7
      Conserved Domains (2) summary
      cd09929
      Location:213 → 334
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)
      cl41773
      Location:91 → 211
      SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4

    RNA

    1. NR_172131.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC016753, AC062037
      Related
      ENST00000389938.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      85418714..85437029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003839.1 → XP_016859328.1  SH2 domain-containing protein 6 isoform X1

      Conserved Domains (1) summary
      cd09929
      Location:223 → 344
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    2. XM_017003841.2 → XP_016859330.1  SH2 domain-containing protein 6 isoform X3

      Conserved Domains (1) summary
      cl15255
      Location:223 → 312
      SH2; Src homology 2 (SH2) domain

    3. XM_017003857.2 → XP_016859346.1  SH2 domain-containing protein 6 isoform X16

    4. XM_047443972.1 → XP_047299928.1  SH2 domain-containing protein 6 isoform X15

    5. XM_017003856.2 → XP_016859345.1  SH2 domain-containing protein 6 isoform X16

    6. XM_017003853.2 → XP_016859342.1  SH2 domain-containing protein 6 isoform X14

    7. XM_017003854.2 → XP_016859343.1  SH2 domain-containing protein 6 isoform X14

    8. XM_047443971.1 → XP_047299927.1  SH2 domain-containing protein 6 isoform X7

    9. XM_047443969.1 → XP_047299925.1  SH2 domain-containing protein 6 isoform X1

    10. XM_017003847.2 → XP_016859336.1  SH2 domain-containing protein 6 isoform X9

      Conserved Domains (1) summary
      cl15255
      Location:227 → 316
      SH2; Src homology 2 (SH2) domain

    11. XM_017003848.2 → XP_016859337.1  SH2 domain-containing protein 6 isoform X10

      Conserved Domains (1) summary
      cl15255
      Location:226 → 315
      SH2; Src homology 2 (SH2) domain

    12. XM_017003849.2 → XP_016859338.1  SH2 domain-containing protein 6 isoform X11

      Conserved Domains (1) summary
      cd09929
      Location:190 → 311
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    13. XM_017003840.2 → XP_016859329.1  SH2 domain-containing protein 6 isoform X2

      Conserved Domains (1) summary
      cd09929
      Location:222 → 343
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    14. XM_017003851.2 → XP_016859340.1  SH2 domain-containing protein 6 isoform X13

      Conserved Domains (1) summary
      cd09929
      Location:126 → 247
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    15. XM_017003843.2 → XP_016859332.1  SH2 domain-containing protein 6 isoform X6

      Conserved Domains (1) summary
      cd09929
      Location:205 → 326
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    16. XM_017003850.2 → XP_016859339.1  SH2 domain-containing protein 6 isoform X12

    17. XM_017003837.2 → XP_016859326.1  SH2 domain-containing protein 6 isoform X1

      Conserved Domains (1) summary
      cd09929
      Location:223 → 344
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    18. XM_017003845.2 → XP_016859334.1  SH2 domain-containing protein 6 isoform X6

      Conserved Domains (1) summary
      cd09929
      Location:205 → 326
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    19. XM_017003835.2 → XP_016859324.1  SH2 domain-containing protein 6 isoform X1

      Conserved Domains (1) summary
      cd09929
      Location:223 → 344
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    20. XM_017003844.2 → XP_016859333.1  SH2 domain-containing protein 6 isoform X6

      Conserved Domains (1) summary
      cd09929
      Location:205 → 326
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    21. XM_017003842.2 → XP_016859331.1  SH2 domain-containing protein 6 isoform X4

      UniProtKB/Swiss-Prot
      A0A8I5KXG6, A6ND14, Q6R306, Q7Z4S9
      UniProtKB/TrEMBL
      A0A494C0E1
      Related
      ENSP00000498488.1, ENST00000651736.1
      Conserved Domains (2) summary
      cd09929
      Location:213 → 334
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)
      cl41773
      Location:91 → 211
      SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4

    22. XM_017003846.2 → XP_016859335.1  SH2 domain-containing protein 6 isoform X8

      UniProtKB/TrEMBL
      A0A494C0E1
      Conserved Domains (1) summary
      cd09929
      Location:195 → 316
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    23. XM_011532783.1 → XP_011531085.1  SH2 domain-containing protein 6 isoform X5

      See identical proteins and their annotated locations for XP_011531085.1

      Conserved Domains (1) summary
      cd09929
      Location:212 → 333
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    24. XM_017003860.2 → XP_016859349.1  SH2 domain-containing protein 6 isoform X17

      UniProtKB/TrEMBL
      B3KSC4
      Conserved Domains (1) summary
      cd09929
      Location:49 → 170
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      85420731..85439046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341424.1 → XP_054197399.1  SH2 domain-containing protein 6 isoform X1

    2. XM_054341427.1 → XP_054197402.1  SH2 domain-containing protein 6 isoform X3

    3. XM_054341444.1 → XP_054197419.1  SH2 domain-containing protein 6 isoform X16

    4. XM_054341442.1 → XP_054197417.1  SH2 domain-containing protein 6 isoform X15

    5. XM_054341443.1 → XP_054197418.1  SH2 domain-containing protein 6 isoform X16

    6. XM_054341440.1 → XP_054197415.1  SH2 domain-containing protein 6 isoform X14

    7. XM_054341441.1 → XP_054197416.1  SH2 domain-containing protein 6 isoform X14

    8. XM_054341433.1 → XP_054197408.1  SH2 domain-containing protein 6 isoform X7

    9. XM_054341422.1 → XP_054197397.1  SH2 domain-containing protein 6 isoform X1

    10. XM_054341435.1 → XP_054197410.1  SH2 domain-containing protein 6 isoform X9

    11. XM_054341436.1 → XP_054197411.1  SH2 domain-containing protein 6 isoform X10

    12. XM_054341437.1 → XP_054197412.1  SH2 domain-containing protein 6 isoform X11

    13. XM_054341426.1 → XP_054197401.1  SH2 domain-containing protein 6 isoform X2

    14. XM_054341439.1 → XP_054197414.1  SH2 domain-containing protein 6 isoform X13

    15. XM_054341430.1 → XP_054197405.1  SH2 domain-containing protein 6 isoform X6

    16. XM_054341438.1 → XP_054197413.1  SH2 domain-containing protein 6 isoform X12

    17. XM_054341425.1 → XP_054197400.1  SH2 domain-containing protein 6 isoform X1

    18. XM_054341432.1 → XP_054197407.1  SH2 domain-containing protein 6 isoform X6

    19. XM_054341423.1 → XP_054197398.1  SH2 domain-containing protein 6 isoform X1

    20. XM_054341431.1 → XP_054197406.1  SH2 domain-containing protein 6 isoform X6

    21. XM_054341428.1 → XP_054197403.1  SH2 domain-containing protein 6 isoform X4

      UniProtKB/Swiss-Prot
      A0A8I5KXG6, A6ND14, Q6R306, Q7Z4S9

    22. XM_054341434.1 → XP_054197409.1  SH2 domain-containing protein 6 isoform X8

    23. XM_054341429.1 → XP_054197404.1  SH2 domain-containing protein 6 isoform X5

    24. XM_054341445.1 → XP_054197420.1  SH2 domain-containing protein 6 isoform X17

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198482.1: Suppressed sequence

      Description
      NM_198482.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4S9.2 GenPept UniProtKB/Swiss-Prot:Q7Z4S9

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