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

SRY Gene

protein-coding   GIFtS: 59
GCID: GC0YM002698

sex determining region Y
 Explore 56 diseases affiliated with
SRY via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SRY    

Aliases
for SRY gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sex Determining Region Y1 2     SRXY12
TDF1 2 3 5     Essential Protein For Sex Determination In Human Males2
Testis-Determining Factor2 3     Sex Determining Region Protein2
TDY2 5     Sex-Determining Region On Y2
SRXX12     Sex-Determining Region Y Protein2

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


Summaries
for SRY gene

(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:
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)

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


Genomic Views
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 69), 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 plasmid: SRY 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

Proteins
for SRY gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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 activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q05066

    • SRY Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SRY
    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 ProSpec Recombinant Proteins
    Uscn 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
    Search for Antibodies for SRY at Abcam  
    Uscn Antibodies for SRY
    Search ThermoFisher Antibodies for SRY

    Assay Products for SRY: 
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    Uscn ELISAs and CLIAs for SRY

    Protein Domains /
    Families
    for SRY gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SRY for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     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


    Function
    for SRY gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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'

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

    10/605 SABiosciences Target genes for SRY (see all 605):
    A2ML1 ABCD3 ACBD6 ACO1 ACTRT2 ACVR1 ADARB2 AFAP1 AGTRAP AHCYL2

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    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 plasmid: SRY 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SRY (see all 7)
    OriGene shRNA RFP: SRY
    OriGene siRNA: SRY
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SRY

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SRY (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRY 

    Cell Line
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    Search LifeMap BioReagents cell lines for SRY

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRY

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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:0005515protein binding IPI15527767
    GO:0005516calmodulin binding IEA--


    SRY for ontologies           About GeneDecksing


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

    SRY for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SRY gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Androgen receptor activity
    		Regulation of Androgen receptor activity1.00
    2Androgen Signaling
    		Androgen Signaling1.00

    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-1965323 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent ----
    GO:0007548sex differentiation IEA--
    GO:0030154cell differentiation IEA--
    GO:0030238male sex determination NAS1695712
    GO:0045893positive regulation of transcription, DNA-dependent NAS--


    SRY for ontologies           About GeneDecksing



    Drugs & Compounds
    for SRY gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for SRY gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SRY gene: 
    NM_003140.1  

    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

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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 plasmid: SRY 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SRY (see all 7)
    OriGene shRNA RFP: SRY
    OriGene siRNA: SRY
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SRY
    Clone
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    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
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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:

    BC074923 NM_003140 BC074924 L10101 Z48513 Z48512 

    GeneLoc Exon Structure


    Expression
    for SRY gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACAGAGAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SRY expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisTestis CordPre-Sertoli CellsTestis
    Reproductive SystemEarly GonadGonad Somatic CellsOvary, Testis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    ES-J1 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    human Fetal Gonadal Stromal Cell (Primary Cell)Reproductive System
    Short-term differentiated embryoid bodies (Derivation of embryo...)
    Long-time differentiated EBs (Derivation of embryo...)

    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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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRY

    Orthologs
    for SRY gene

    (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 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia SOX216
    SOX16
    		 --
    		 22(a)
    16(a)
    		 1 ↔ many
    1 ↔ many
    		 3(84855418-84856257)
    3(105298539-105299823)
    zebrafish
    (Danio rerio)    		 Actinopterygii sox21b6
    sox19b6
    (see all 3)    		 SRY-box containing gene 19b
    (see all 3)    		 25(a)
    22(a)
    (see all 3)    		 1 ↔ many
    possible ortholog
    (see all 3)    		 9(55102198-55103535)
    7(27620451-27623815)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Sox21a6
    SoxN6
    		 SoxNeuro
    		 15(a)
    11(a)
    		 possible ortholog
    possible ortholog
    		 3L(14096581-14101218)
    2L(8825625-8829670)
    worm
    (Caenorhabditis elegans)    		 Secernentea sox-46
    		 Protein SOX-4
    		 18(a)
    		 possible ortholog
    		 X(3505427-3506378)


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

    Paralogs
    for SRY gene

    (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



    Genomic Variants
    for SRY gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/21 NCBI SNPs in SRY are shown (see all 21)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr Y posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048949761,2
    		Cpathogenic2655248(-) CTCGTC/TGGAAG 2 R W mis10--------
    rs1048949731,2
    		Cpathogenic2655265(-) GAATTA/TTAAGT 2 Y F mis10--------
    rs1048949661,2
    		Cpathogenic2655308(-) AGGAGA/GCACAG 2 T A mis10--------
    rs1048949561,2
    		Cpathogenic2655319(-) GCCATC/TCTTCC 2 S F mis10--------
    rs1048949671,2
    		Cpathogenic2655325(-) AAAATA/GGCCAT 2 * W stg10--------
    rs1048949641,2
    		Cpathogenic2655328(-) CGAAAA/TATGGC 2 K I mis10--------
    rs1048949721,2
    		Cpathogenic2655361(-) GCTGGA/GATACC 2 E G mis10--------
    rs1048949741,2
    		Cpathogenic2655362(-) AGCTGC/GGATAC 2 R G mis10--------
    rs1048949581,2
    		Cpathogenic2655368(-) GCAAGC/TAGCTG 2 Q * stg10--------
    rs1048949701,2
    		Cpathogenic2655371(-) TCAGCA/TAGCAG 2 K * stg10--------

    HapMap Linkage Disequilibrium report for SRY (2654896 - 2655792 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SRY: --
    Human Gene Mutation Database (HGMD): SRY

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SRY
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    Disorders / Diseases
    for SRY gene

    (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
    SRY for disorders           About GeneDecksing

    OMIM gene information: 480000   
    OMIM disorders: 400044  400045  
    UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066
  • Defects in SRY are the cause of 46,XY sex reversal type 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=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
  • Defects in SRY are the cause of 46,XX sex reversal type 1 (SRXX1) [MIM:400045]. A condition in which male
    • gonads develop in a genetic female (female to male sex reversal)

    20/56 diseases for SRY (see all 56):    About MalaCards
    gonadal dysgenesis    46,xx testicular disorder of sex development    46, xy disorders of sex development    swyer syndrome
    disorders of sex development    46 xy gonadal dysgenesis    denys-drash syndrome    androgen insensitivity syndrome
    xy sex reversal    sertoli-leydig cell tumor    mixed gonadal dysgenesis    microphthalmia with linear skin defects
    sex reversal    campomelic dysplasia    short stature    leydig cell tumor
    growth hormone deficiency    adrenal hyperplasia    gonadoblastoma    luteoma

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

    10/35 Novoseek 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
    46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
    46,XX Testicular Disorder of Sex Development

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

    Export disorders for SRY gene to outside databases

    Publications
    for SRY gene

    (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 361):
    (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)

    External Searches for SRY gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing SRY gene

    (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

    Other Databases showing SRY gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SRY gene

    (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

    Intellectual Property
    for SRY gene

    (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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