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

Gene ID: 284948, updated on 23-Nov-2023

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 intracellular signal transduction and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85418714..85437029)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85420731..85439046)
105.20220307 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)

Genotypes

General gene information

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Markers

Homology

Clone Names

  • FLJ35993

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transmembrane receptor protein tyrosine kinase signaling pathway 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/TrEMBL
    A0A494C0E1, A0A8I5KXG6
    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_2023_10

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/TrEMBL
    A0A494C0E1, A0A8I5KXG6
    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/TrEMBL
    A0A494C0E1, A0A8I5KXG6

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

    UniProtKB/TrEMBL
    A0A494C0E1

  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

    UniProtKB/TrEMBL
    B3KSC4

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
Q7Z4S9.1 GenPept UniProtKB/Swiss-Prot:Q7Z4S9

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