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

SRY Gene

protein-coding   GIFtS: 61
GCID: GC0YM002698

Sex Determining Region Y

  See related diseases
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
Sex Determining Region Y1 2     SRXY12
TDF2 3 5     Essential Protein For Sex Determination In Human Males2
Testis-Determining Factor1 3     Sex-Determining Region On Y2
TDY2 5     Sex-Determining Region Y Protein2
SRXX12     Testis-Determining Factor On Y2

External Ids:    HGNC: 113111   Entrez Gene: 67362   Ensembl: ENSG000001848957   OMIM: 4800005   UniProtKB: Q050663   

Export aliases for SRY gene to outside databases

Previous GC identifers: GC0YM002562 GC0YM002300 GC0YM000007


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

Entrez Gene summary for SRY Gene:
This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family
of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex
determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome);
translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SRY Gene: 
SRY (sex determining region Y) is a protein-coding gene. Diseases associated with SRY include gonadal dysgenesis, and hermaphroditism, and among its related super-pathways are CCR5 Pathway in Macrophages. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is SOX13.

UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066
Function: Transcriptional regulator that controls a genetic switch in male development. It is necessary and
sufficient for initiating male sex determination by directing the development of supporting cell precursors
(pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the
maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene
regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box
recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA
consensus sequence 5'-[AT]AACAA[AT]-3'

Gene Wiki entry for SRY 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_000024.9  NT_011896.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SRY gene promoter:
         STAT1   AML1a   CUTL1   Nkx2-5   GATA-1   Evi-1   SRY   Pax-3   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRY promoter sequence
   Search SABiosciences Chromatin IP Primers for SRY

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


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

Entrez Gene cytogenetic band: Yp11.3   Ensembl cytogenetic band:  Yp11.31   HGNC cytogenetic band: Yp11.3

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

GeneLoc information about chromosome Y         GeneLoc Exon Structure

GeneLoc location for GC0YM002698:  view genomic region     (about GC identifiers)

Start:
2,654,896 bp from pter      End:
2,655,792 bp from pter
Size:
897 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: SRY_HUMAN, Q05066 (See protein sequence)
Recommended Name: Sex-determining region Y protein  
Size: 204 amino acids; 23884 Da
Subunit: Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 and WT1. The interaction
with EP300 modulates its DNA-binding activity. The interaction with KPNB1 is sensitive to dissociation by Ran in
the GTP-bound form (By similarity). Interaction with PARP1 impaired its DNA-binding activity (By similarity)
Subcellular location: Nucleus speckle. Cytoplasm. Note=Colocalizes with SOX6 in speckles. Colocalizes with CAML in
the nucleus. Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity)
5 PDB 3D structures from and Proteopedia for SRY:
1HRY (3D)        1HRZ (3D)        1J46 (3D)        1J47 (3D)        2GZK (3D)    

Explore the universe of human proteins at neXtProt for SRY: NX_Q05066

Explore proteomics data for SRY at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates
    transcription repression. Acetylation of Lys-136 contributes to its nuclear localization and enhances its
    interaction with KPNB1. Deacetylated by HDAC3. Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its
    DNA-binding activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q05066

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

    SRY Protein Expression
    REFSEQ proteins: NP_003131.1  
    ENSEMBL proteins: 
     ENSP00000372547   ENSP00000437575   ENSP00000438917  

    Human Recombinant Protein Products for SRY: 
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    OriGene Protein Over-expression Lysate for SRY
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SRY
    GenScript Custom Purified and Recombinant Proteins Services for SRY
    Novus Biologicals SRY Protein
    Novus Biologicals SRY Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SRY 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS1425584
    GO:0005737cytoplasm IDA--
    GO:0016607nuclear speck IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    SRY for ontologies           About GeneDecksing



    SRY Antibody Products: 
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    Novus Biologicals SRY Antibodies
    Abcam antibodies for SRY
    Cloud-Clone Corp. Antibodies for SRY 
    ThermoFisher Antibody for SRY
    LSBio Antibodies in human, mouse, rat for SRY 

    Assay Products for SRY: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SRY
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SRY 
    Cloud-Clone Corp. CLIAs for SRY


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR009071 HMG_box_dom
     IPR017253 TF_Sry

    Graphical View of Domain Structure for InterPro Entry Q05066

    ProtoNet protein and cluster: Q05066

    UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066
    Domain: DNA binding and bending properties of the HMG domains of human and mouse SRY differ form each other. Human
    SRY shows more extensive minor groove contacts with DNA and a lower specificity of sequence recognition than
    mouse SRY
    Similarity: Belongs to the SRY family
    Similarity: Contains 1 HMG box DNA-binding domain


    SRY 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SRY_HUMAN, Q05066
    Function: Transcriptional regulator that controls a genetic switch in male development. It is necessary and
    sufficient for initiating male sex determination by directing the development of supporting cell precursors
    (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the
    maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene
    regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box
    recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA
    consensus sequence 5'-[AT]AACAA[AT]-3'

         Genatlas biochemistry entry for SRY:
    sex determining region Y,testis determining factor antagonized by DAX1,modulator of LINE retroposons promoter
    activity

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA1425584
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    SRY for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Sry):
     endocrine/exocrine gland  mortality/aging  reproductive system 

    SRY for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SRY 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SRY

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SRY 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SRY 

    10/597 SABiosciences Target genes for SRY (see all 597):
    A2ML1 ABCD3 ACBD6 ACO1 ACTRT2 ACVR1 ADARB2 AFAP1 AGTRAP AHCYL2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SRY
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SRY
    SwitchGear 3'UTR luciferase reporter plasmidSRY 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SRY
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SRY

    Clone
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    OriGene ORF clones in mouse, rat for SRY
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SRY (NM_003140)
    Sino Biological Human cDNA Clone for SRY
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SRY
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRY
    Sirion Biotech Customized lentivirus for stable overexpression of SRY 
                         Customized lentivirus expression plasmids for stable overexpression of SRY 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SRY
    Search LifeMap BioReagents cell lines for SRY
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRY


    (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

    SuperPaths for SRY About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Androgen Signaling
    Androgen Signaling0.52
    2Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SRY
        Androgen Signaling

    1 BioSystems Pathway for SRY
        Regulation of Androgen receptor activity



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SRY

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for SRY (Q050661, 2, 3 ENSP000003725474) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840221, 3, ENSP000003329734EBI-464987,EBI-347161 I2D: score=3 STRING: ENSP00000332973
    SLC9A3R2Q155992, 3, ENSP000004080054MINT-68607 MINT-68601 MINT-60076 I2D: score=2 STRING: ENSP00000408005
    ARP102753, ENSP000003638224I2D: score=2 STRING: ENSP00000363822
    KPNB1Q149743, ENSP000002901584I2D: score=1 STRING: ENSP00000290158
    ZNF208O433453, ENSP000003803154I2D: score=1 STRING: ENSP00000380315
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-dependent ----
    GO:0007530sex determination ----
    GO:0007548sex differentiation ----
    GO:0008584male gonad development IEA--

    SRY for ontologies           About GeneDecksing



    (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

    SRY for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SRY

    1 HMDB Compound for SRY    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    10/20 Novoseek inferred chemical compound relationships for SRY gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dmrt 58.9 1 16868052 (1)
    testosterone 55.6 17 11585838 (5), 20302644 (3), 1306840 (2), 16130458 (1) (see all 7)
    dihydrotestosterone 22.8 1 17875487 (1)
    deoxyribonucleic acid 21.4 8 9093193 (4), 10992198 (1)
    thymine 6.67 2 15211655 (1)
    alanine 5.52 3 8105086 (1)
    steroid 5.15 3 9343329 (1), 18654764 (1), 11585838 (1)
    tyrosine 3.49 1 8019555 (1)
    agarose 0 1 17132094 (1)
    lysine 0 3 9678356 (1), 15297880 (1)

    Search CenterWatch for drugs/clinical trials and news about SRY

    (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 SRY gene: 
    NM_003140.2  

    Unigene Cluster for SRY:

    Sex determining region Y
    Hs.1992
    Unigene Representative Sequence: NM_003140
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000383070(uc004fqg.1) ENST00000525526 ENST00000534739
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SRY
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SRY
    SwitchGear 3'UTR luciferase reporter plasmidSRY 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SRY
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SRY
    Clone
    Products:
         
    OriGene clones in human, mouse for SRY (see all 6)
    OriGene ORF clones in mouse, rat for SRY
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SRY (NM_003140)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SRY
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRY
    Sirion Biotech Customized lentivirus for stable overexpression of SRY 
                         Customized lentivirus expression plasmids for stable overexpression of SRY 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SRY
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat SRY
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SRY
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SRY

    Additional mRNA sequence: 

    BC074923.2 BC074924.2 L10101.1 S53156.1 S56543.1 Z48512.1 Z48513.1 

    2 DOTS entries:

    DT.408945  DT.120652321 

    6 AceView cDNA sequences:

    L10101 BC074923 NM_003140 BC074924 Z48513 Z48512 

    GeneLoc Exon Structure


    (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

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


    SRY expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Pre-Sertoli Cells Testis Cord
             testis ; cells in seminiferus ducts   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Gonad Somatic Cells Primitive Gonad
             Fetal Gonadal Stromal Cell
     
     Inner Cell Mass (Early Embryonic Tissues)
             ES-J1
     
     Uterus (Reproductive System)
             uterus, pre-menopause ; glandular cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.1992
        SABiosciences Custom PCR Arrays for SRY
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SRY
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRY

    (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 animals.

    Orthologs for SRY gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sry5 sex determining region of Chr Y   --   Y 2662471 
    chicken
    (Gallus gallus)
    Aves SOX26
    Transcription factor SOX-2
    20(a)
    possible ortholog
    9(16342563-16343510)
    zebrafish
    (Danio rerio)
    Actinopterygii sox36
    sox19a6
    (see all 4)
    SRY-box containing gene 19a
    (see all 4)
    23(a)
    23(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    14(33703957-33705712)
    5(25868115-25870372)
    fruit fly
    (Drosophila melanogaster)
    Insecta SoxN6
    SoxNeuro
    12(a)
    1 → many
    2L(8825625-8829670)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SRY gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX32  SOX92  SOX122  
    SOX152  SOX182  SOX52  ENSG000002587242  SOX212  SOX172  SOX62  SOX112  
    SOX82  SOX102  SOX72  
    18/25 SIMAP similar genes for SRY using alignment to 41 protein entries:     SRY_HUMAN (see all proteins) (see all similar genes):
    SOX28    soxB    SOX25    SOX21    SOX14    SOX27
    SOX17    SOX10    SOX15    SOX26    SOX12    SOX6
    SOX5    SOX11    SOX7    SOX2    HMGB3    UBTF

    SRY 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

    10/72 SNPs in SRY are shown (see all 72)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr Y posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0037304
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037302 F S mis40--------
    VAR_0173044
    46,XY sex reversal 1 (SRXY1)4--see VAR_0173042 P R mis40--------
    VAR_0037194
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037192 V L mis40--------
    VAR_0173034
    46,XY sex reversal 1 (SRXY1)4--see VAR_0173032 Y F mis40--------
    VAR_0037284
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037282 K I mis40--------
    VAR_0037314
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037312 A T mis40--------
    VAR_0037294
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037292 P R mis40--------
    VAR_0037174
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037172 S N mis40--------
    VAR_0037334
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037332 Y C mis40--------
    VAR_0037214
    46,XY sex reversal 1 (SRXY1)4--see VAR_0037212 M I mis40--------

    HapMap Linkage Disequilibrium report for SRY (2654896 - 2655792 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SRY: --

    Human Gene Mutation Database (HGMD): SRY
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SRY
    DNA2.0 Custom Variant and Variant Library Synthesis for SRY

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 480000   
    OMIM disorders: 400044  400045  
    UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066
  • 46,XY sex reversal 1 (SRXY1) [MIM:400044]: A condition characterized by male-to-female sex reversal in
    the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which
    are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian
    stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external
    genitalia in these subjects are completely female, and Muellerian structures are normal. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Note=A 45,X chromosomal aberration involving SRY is found in Turner syndrome, a disease characterized by
    gonadal dysgenesis with short stature, "streak gonads", variable abnormalities such as webbing of the neck,
    cubitus valgus, cardiac defects, low posterior hair line. The phenotype is female
  • 46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in which male gonads develop in a genetic female
    (female to male sex reversal). Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/51 diseases for SRY (see all 51):    About MalaCards
    gonadal dysgenesis    hermaphroditism    swyer syndrome    mixed gonadal dysgenesis
    gonadoblastoma    46 xy gonadal dysgenesis    anorchia    disorders of sex development
    prostatic hypertrophy    46, xy disorders of sex development    sry-related 46,xy dsd and 46,xy cgd    fibrosclerosis of breast
    46,xx testicular disorder of sex development    46,xy partial gonadal dysgenesis    45,x/46,xy mixed gonadal dysgenesis    mobius syndrome
    gynecomastia    frasier syndrome    campomelic dysplasia    dysgerminoma

    15 diseases from the University of Copenhagen DISEASES database for SRY:
    Gonadal dysgenesis     Gonadoblastoma     Hermaphroditism     Campomelic dysplasia
    Azoospermia     Hypospadias     Pseudohermaphroditism     Testicular disease
    Infertility     Cryptorchidism     Frasier syndrome     Amenorrhea
    Gynecomastia     Cancer     Luteoma

    SRY for disorders           About GeneDecksing

    10/35 Novoseek inferred disease relationships for SRY gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pure gonadal dysgenesis 92.5 26 17063144 (3), 8840551 (2), 8353496 (2), 16106197 (2) (see all 19)
    swyer syndrome 91.1 15 15183752 (2), 9341876 (2), 16846094 (2), 10803875 (1) (see all 11)
    hermaphroditism, true 89.4 14 12215841 (2), 1740318 (1), 1297452 (1), 7702097 (1) (see all 11)
    gonadoblastoma 88.3 8 10614539 (1), 19513096 (1), 9137884 (1), 7814028 (1) (see all 8)
    primary amenorrhea 77.6 5 20302644 (4), 17493621 (1)
    campomelic dysplasia 76.3 2 10798354 (1), 11990798 (1)
    gonadal dysgenesis mixed 75.4 6 16045561 (2), 15223166 (2), 11694229 (1), 9250915 (1)
    turners syndrome 74.8 13 15223166 (2), 19188812 (2), 8530595 (2), 15687343 (1) (see all 10)
    virilization 72.7 4 7913293 (1), 15652914 (1), 8033363 (1), 12818524 (1)
    testicular regression syndrome 72.1 1 16106197 (1)

    Genatlas disease: SRY
    gonadal dysgenesis,Swyer syndrome,XY female complete or incomplete sex reversal

    GeneTests: SRY
    GeneReviews: SRY
    Genetic Association Database (GAD): SRY
    Human Genome Epidemiology (HuGE) Navigator: SRY (6 documents)

    Export disorders for SRY 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 SRY gene, integrated from 9 sources (see all 377):
    (articles sorted by number of sources associating them with SRY)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of SRY in XY females. (PubMed id 8257986)1, 2, 9 Hawkins J.R. (1993)
    2. Regulation of human SRY subcellular distribution by its acetylation/deacetylation. (PubMed id 15297880)1, 2, 9 Thevenet L....Boizet-Bonhoure B. (2004)
    3. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. (PubMed id 1339396)1, 2, 9 Hawkins J.R....Goodfellow P.N. (1992)
    4. Genetic evidence equating SRY and the testis-determining factor. (PubMed id 2247149)1, 2, 9 Berta P.... Fellous M. (1990)
    5. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (PubMed id 17063144)1, 2, 9 Gimelli G.... Zuffardi O. (2007)
    6. KRAB: a partner for SRY action on chromatin. (PubMed id 16414182)1, 2, 9 Oh H.J. and Lau Y.F. (2006)
    7. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. (PubMed id 9678356)1, 2, 9 Scherer G....Midro A.T. (1998)
    8. Defective importin beta recognition and nuclear import of the sex- determining factor SRY are associated with XY sex-reversing mutations. (PubMed id 12764225)1, 2, 9 Harley V.R.... Jans D.A. (2003)
    9. Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY. (PubMed id 7985018)1, 2, 9 Haqq C.M....Weiss M.A. (1994)
    10. A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. (PubMed id 8105086)1, 2, 9 Zeng Y.... Huang S. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6736 HGNC: 11311 AceView: SRY Ensembl:ENSG00000184895 euGenes: HUgn6736
    ECgene: SRY H-InvDB: SRY

    (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 SRY Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SRY Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SRY
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt080.shtml
    Wikipedia http://en.wikipedia.org/wiki/SRY

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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