Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SRY Gene

protein-coding   GIFtS: 60
GCID: GC0YM002698

Sex Determining Region Y

  See SRY-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

TryGeneCards Plus

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

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

TryGeneCards Plus

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 mixed gonadal dysgenesis, and 46xy sex reversal 1. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000024.9  NT_011896.10  
Regulatory elements:
   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 Chromatin IP Primers for SRY

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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)
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: 

  • Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates
    transcription repression1
  • Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1.
    Deacetylated by HDAC31
  • Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SRY Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003131.1  
    ENSEMBL proteins: 
     ENSP00000372547   ENSP00000437575   ENSP00000438917  

    SRY Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    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

     
    Search eBioscience for Proteins for SRY 

    SRY Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SRY
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SRY
    OriGene Custom Antibody Services for SRY
    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

    SRY Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SRY
    Browse R&D Systems for biochemical assays
    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
    Search eBioscience for ELISAs for SRY 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    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


    Find genes that share domains with SRY           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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): Selected molecular function terms (see all 6):    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:0005516calmodulin binding IEA--
    GO:0008134transcription factor binding IPI16582099
         
    Find genes that share ontologies with SRY           About GenesLikeMe


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

    Find genes that share phenotypes with SRY           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRY
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SRY using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SRY
    SwitchGear 3'UTR luciferase reporter plasmidSRY 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SRY
    Predesigned siRNA for gene silencing in human, mouse, rat SRY

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for 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)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SRY
    Browse ESI BIO Cell Lines and PureStem Progenitors for SRY 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRY

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-14087 VA6-14088) for SRY 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SRY_HUMAN, Q05066: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular2
    mitochondrion2

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with SRY           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus

    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 GeneGlobe Pathway Central Maps for SRY
        Androgen Signaling

    1 BioSystems Pathway for SRY
        Regulation of Androgen receptor activity



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRY
    Interactions:

        GeneGlobe Interaction Network for SRY

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SRY (Q050662, 3 ENSP000003725474) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC9A3R2Q155992, 3, ENSP000004080054MINT-68607 MINT-68601 MINT-60076 I2D: score=2 STRING: ENSP00000408005
    SMAD3P840223, ENSP000003329734I2D: score=3 STRING: ENSP00000332973
    ARP102753, ENSP000003638224I2D: score=2 STRING: ENSP00000363822
    KPNB1Q149743, ENSP000002901584I2D: score=1 STRING: ENSP00000290158
    ZNF208O433453, ENSP000003803154I2D: score=1 STRING: ENSP00000380315
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0006351transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA--
    GO:0006366transcription from RNA polymerase II promoter IDA--
    GO:0007548sex differentiation IEA--

    Find genes that share ontologies with SRY           About GenesLikeMe



    (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)
    About This Section

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

    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--

    Selected 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)



    Find genes that share compounds with SRY           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat SRY using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SRY
    SwitchGear 3'UTR luciferase reporter plasmidSRY 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SRY
    Predesigned 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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SRY
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SRY
      QuantiTect SYBR Green Assays in human, mouse, rat SRY
      QuantiFast Probe-based Assays in human, mouse, rat SRY
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-14087 VA6-14088) for 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:

    BC074924 NM_003140 BC074923 L10101 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™, 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)
    About This Section

    TryGeneCards Plus

    SRY expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Pre-Sertoli Cells Testis Cord
             Long-time differentiated EBs
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Gonad Somatic Cells Primitive Gonad
             Fetal Gonadal Stromal Cell
     
     Ovary (Reproductive System)
             Gonad Somatic Cells Primitive Gonad
     
     NULL (Uncategorized)
             Short-term differentiated embryoid bodies
     
     Inner Cell Mass (Early Embryonic Tissues)
             ES-J1
    SRY Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRY Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1992
        Custom PCR Arrays for SRY
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SRY
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SRY
    QuantiTect SYBR Green Assays in human, mouse, rat SRY
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for SRY gene from Selected species (see all 6)    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 
    zebrafish
    (Danio rerio)
    Actinopterygii sox19b6
    sox19a6
    SRY-box containing gene 19a
    24(a)
    22(a)
    many ↔ many
    many ↔ many
    7(27620451-27623815) ENSDARG00000040266
    5(25868115-25870372) ENSDARG00000010770
    fruit fly
    (Drosophila melanogaster)
    Insecta SoxN6
    SoxNeuro
    13(a)
    1 → many
    2L(8825625-8829670)
    worm
    (Caenorhabditis elegans)
    Secernentea sox-26
    Protein SOX-2, isoform a
    23(a)
    1 → many
    X(7458293-7463736) WBGene00004949


    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

    TryGeneCards Plus
    Paralogs for SRY gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX32  SOX92  SOX122  
    SOX152  SOX182  SOX52  ENSG000002587242  SOX212  SOX172  SOX62  SOX112  
    SOX82  SOX102  SOX72  
    Selected SIMAP similar genes for SRY using alignment to 48 protein entries:     SRY_HUMAN (see all proteins) (see all similar genes):
    SOX28    soxB    SOX25    SOX21    SOX14    SOX27
    SOX10    SOX17    SOX15    SOX26    SOX12    SOX6
    SOX5    SOX11    SOX7    SOX2    HMGB3    UBTF

    Find genes that share paralogs with SRY           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SRY (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    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

  • Selected diseases for SRY (see all 24):    
    About MalaCards
    mixed gonadal dysgenesis    46xy sex reversal 1    46xx sex reversal 1    gonadal dysgenesis
    sry-related 46,xy dsd and 46,xy cgd    hermaphroditism    46,xx testicular disorder of sex development    swyer syndrome
    45,x/46,xy mixed gonadal dysgenesis    anorchia    gonadoblastoma    gynecomastia
    testicular disease    dysgerminoma    prostatic hypertrophy    luteoma
    46xy sex reversal 6    frasier syndrome    46,xy disorder of sex development and 46,xy complete gonadal dysgenesis    campomelic dysplasia

    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

    Find genes that share disorders with SRY           About GenesLikeMe

    Selected 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

    TryGeneCards Plus

    PubMed articles for SRY gene, integrated from 10 sources (see all 379):
    (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. (Hum. Mutat. 1993)
    2. Regulation of human SRY subcellular distribution by its acetylation/deacetylation. (PubMed id 15297880)1, 2, 9 Thevenet L....Boizet-Bonhoure B. (EMBO J. 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. (Hum. Genet. 1992)
    4. Genetic evidence equating SRY and the testis-determining factor. (PubMed id 2247149)1, 2, 9 Berta P.... Fellous M. (Nature 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. (Eur. J. Hum. Genet. 2007)
    6. KRAB: a partner for SRY action on chromatin. (PubMed id 16414182)1, 2, 9 Oh H.J. and Lau Y.F. (Mol. Cell. Endocrinol. 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. (Cytogenet. Cell Genet. 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. (Proc. Natl. Acad. Sci. U.S.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. (Science 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. (J. Med. Genet. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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

    TryGeneCards Plus
    Entrez Gene: 6736 HGNC: 11311 AceView: SRY Ensembl:ENSG00000184895 euGenes: HUgn6736
    ECgene: SRY H-InvDB: SRY

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=SRY[genesymbol]
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/080
    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

    TryGeneCards Plus
    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



    (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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SRY
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SRY   OriGene RNAi products in human, mouse, rat for SRY  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SRY  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SRY  
     OriGene qSTAR qPCR primer pairs in human, mouse for SRY   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SRY   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SRY   OriGene Custom Protein Services for SRY  

     
     
     Block miRNA regulation of human, mouse, rat SRY using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SRY
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRY Predesigned siRNA for gene silencing in human, mouse, rat SRY
     QuantiFast Probe-based Assays in human, mouse, rat SRY QuantiTect SYBR Green Assays in human, mouse, rat SRY
     Custom PCR Arrays for SRY Search Chromatin IP Primers for SRY
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SRY  GeneGlobe Interaction Network for SRY
     Regulatory tfbs in SRY promoter
     GenScript Custom Purified and Recombinant Proteins Services for SRY GenScript cDNA clones with any tag delivered in your preferred vector for SRY
     GenScript Custom Assay Services for SRY GenScript Custom overexpressing Cell Line Services for SRY
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SRY
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for SRY
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SRY antibodies
     SRY proteins
     SRY lysates
     Antibodies for SRY
     See all of Abcam's Antibodies, Kits and Proteins for SRY
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SRY
     Antibodies for SRY
     ELISAs for SRY
     CLIAs for SRY



     Browse ESI BIO Cell Lines and PureStem Progenitors for SRY
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRY
     SwitchGear 3'UTR luciferase reporter plasmids for SRY
     SwitchGear Promoter luciferase reporter plasmids for SRY
     ThermoFisher Antibody for SRY
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRY
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRY
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SRY
     LSBio Antibodies in human, mouse, rat for SRY
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for SRY
      Search eBioscience for proteins for SRY
      Search eBioscience for elisas for SRY
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SRY gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4