Details for: SRY

Gene ID: 6736

Symbol: SRY

Ensembl ID: ENSG00000184895

Description: sex determining region Y

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 6.3604
    Cell Significance Index: 104.8100
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 1.2485
    Cell Significance Index: 15.7800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.5417
    Cell Significance Index: 5.3600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.3140
    Cell Significance Index: 7.8300
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.2866
    Cell Significance Index: 3.6000
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.2317
    Cell Significance Index: 2.8000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1280
    Cell Significance Index: 3.4300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0677
    Cell Significance Index: 0.9500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0437
    Cell Significance Index: 5.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0016
    Cell Significance Index: -1.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0027
    Cell Significance Index: -1.5400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0038
    Cell Significance Index: -1.3500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0039
    Cell Significance Index: -2.9600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0040
    Cell Significance Index: -0.7300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0079
    Cell Significance Index: -0.1000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0080
    Cell Significance Index: -1.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0088
    Cell Significance Index: -1.7600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0112
    Cell Significance Index: -2.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0113
    Cell Significance Index: -1.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0115
    Cell Significance Index: -1.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0125
    Cell Significance Index: -1.5400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0202
    Cell Significance Index: -0.1200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0202
    Cell Significance Index: -0.2200
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: -0.0216
    Cell Significance Index: -0.2400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0218
    Cell Significance Index: -1.1300
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.0335
    Cell Significance Index: -0.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0416
    Cell Significance Index: -2.8000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0425
    Cell Significance Index: -1.5600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0441
    Cell Significance Index: -1.5500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0467
    Cell Significance Index: -2.6200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0484
    Cell Significance Index: -1.4300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0531
    Cell Significance Index: -0.5500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0538
    Cell Significance Index: -1.7600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0560
    Cell Significance Index: -1.9500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0582
    Cell Significance Index: -1.2400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0616
    Cell Significance Index: -0.8400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0628
    Cell Significance Index: -1.3200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0646
    Cell Significance Index: -0.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0656
    Cell Significance Index: -1.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0689
    Cell Significance Index: -1.8400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0713
    Cell Significance Index: -1.7800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0717
    Cell Significance Index: -1.2000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0730
    Cell Significance Index: -3.2300
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: -0.0759
    Cell Significance Index: -0.4600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0788
    Cell Significance Index: -2.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0853
    Cell Significance Index: -3.2300
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0893
    Cell Significance Index: -1.7800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0960
    Cell Significance Index: -2.4500
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0963
    Cell Significance Index: -1.0900
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0981
    Cell Significance Index: -1.3600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0981
    Cell Significance Index: -2.8000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1008
    Cell Significance Index: -0.8100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1013
    Cell Significance Index: -2.7100
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.1034
    Cell Significance Index: -1.2300
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1037
    Cell Significance Index: -1.4100
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.1054
    Cell Significance Index: -1.1200
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.1077
    Cell Significance Index: -1.1800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1104
    Cell Significance Index: -2.8200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1156
    Cell Significance Index: -1.6600
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: -0.1171
    Cell Significance Index: -1.3500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1177
    Cell Significance Index: -1.9800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1191
    Cell Significance Index: -2.0600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1206
    Cell Significance Index: -2.6400
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.1217
    Cell Significance Index: -1.4200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1260
    Cell Significance Index: -1.4700
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: -0.1329
    Cell Significance Index: -1.2500
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1341
    Cell Significance Index: -2.0400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1343
    Cell Significance Index: -1.4600
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.1374
    Cell Significance Index: -1.7600
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1381
    Cell Significance Index: -1.3400
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.1391
    Cell Significance Index: -1.9100
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1454
    Cell Significance Index: -1.9600
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.1484
    Cell Significance Index: -1.4200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1487
    Cell Significance Index: -2.1300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1488
    Cell Significance Index: -2.1600
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: -0.1494
    Cell Significance Index: -1.9500
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1527
    Cell Significance Index: -1.5000
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.1539
    Cell Significance Index: -1.8100
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: -0.1548
    Cell Significance Index: -1.9500
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1552
    Cell Significance Index: -1.0300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1568
    Cell Significance Index: -2.5400
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: -0.1590
    Cell Significance Index: -1.7800
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.1597
    Cell Significance Index: -1.5500
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: -0.1600
    Cell Significance Index: -1.7300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1612
    Cell Significance Index: -2.7800
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.1642
    Cell Significance Index: -1.8100
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.1660
    Cell Significance Index: -1.6000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.1673
    Cell Significance Index: -2.8600
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.1686
    Cell Significance Index: -2.2000
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.1701
    Cell Significance Index: -1.0600
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.1710
    Cell Significance Index: -2.1700
  • Cell Name: PP cell (CL0000696)
    Fold Change: -0.1712
    Cell Significance Index: -1.7400
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.1718
    Cell Significance Index: -2.0400
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.1747
    Cell Significance Index: -2.0700
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: -0.1750
    Cell Significance Index: -1.3900
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: -0.1759
    Cell Significance Index: -2.1400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1759
    Cell Significance Index: -1.8200
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: -0.1788
    Cell Significance Index: -2.1300
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.1790
    Cell Significance Index: -2.4600
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.1790
    Cell Significance Index: -2.0000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The SRY gene is a highly conserved gene, with a high degree of similarity to other sex-determining genes found in other species. It encodes a transcription factor that binds to specific DNA sequences, regulating the expression of downstream genes involved in sex determination and development. SRY is a small gene, consisting of only 9 exons and 8 introns, and is highly expressed in cells of the gonads, as well as in other tissues such as the brain and nervous system. **Pathways and Functions:** The SRY gene is involved in several signaling pathways that regulate sex determination and development. These pathways include: 1. **Wnt/β-catenin pathway:** SRY interacts with the Wnt/β-catenin pathway, which is essential for the regulation of cell proliferation, differentiation, and survival. The SRY protein binds to β-catenin, preventing its interaction with T-cell factor (TCF) and thereby inhibiting the transcription of target genes. 2. **TGF-β pathway:** SRY also interacts with the TGF-β (Transforming Growth Factor-beta) pathway, which regulates the development of the gonads and the differentiation of sex-specific cells. 3. **Pax6 pathway:** SRY interacts with the Pax6 pathway, which is involved in the development of the brain and nervous system. 4. **GATA4 pathway:** SRY interacts with the GATA4 pathway, which regulates the development of the heart and gonads. SRY plays a crucial role in regulating the expression of downstream genes involved in sex determination and development, including: 1. **SOX9:** SRY regulates the expression of SOX9, a transcription factor essential for the development of the gonads. 2. **DMRT1:** SRY regulates the expression of DMRT1, a transcription factor involved in the development of the gonads and testes. 3. **AMH:** SRY regulates the expression of AMH (Anti-Müllerian Hormone), a hormone involved in the regression of the Müllerian ducts. **Clinical Significance:** The SRY gene plays a critical role in the development of sex-specific characteristics and gonads. Mutations or deletions of the SRY gene can lead to sex reversal, where an individual with a Y chromosome develops as female. This can result in various clinical conditions, including: 1. **Androgen insensitivity syndrome (AIS):** A condition where an individual with a Y chromosome has a mutation in the androgen receptor gene, leading to a failure to respond to testosterone. 2. **Sex reversal:** A condition where an individual with a Y chromosome develops as female, often due to a mutation or deletion of the SRY gene. 3. **Klinefelter syndrome:** A condition where an individual with an XXY karyotype has an extra X chromosome, leading to infertility and other reproductive problems. In conclusion, the SRY gene is a critical component of the sex-determination pathway, regulating the development of sex-specific characteristics and gonads. Understanding the mechanisms of SRY function and the clinical significance of its dysregulation can provide valuable insights into the development of sex-specific traits and gonadal development.

Genular Protein ID: 3401268527

Symbol: SRY_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q05066

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 2 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 VEuPathDB 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1695712

Title: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.

PubMed ID: 1695712

DOI: 10.1038/346240a0

PubMed ID: 8434602

Title: Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach.

PubMed ID: 8434602

PubMed ID: 8244390

Title: Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.

PubMed ID: 8244390

DOI: 10.1006/geno.1993.1395

PubMed ID: 7557997

Title: 41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome.

PubMed ID: 7557997

DOI: 10.1006/geno.1995.1047

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1425584

Title: SRY, like HMG1, recognizes sharp angles in DNA.

PubMed ID: 1425584

DOI: 10.1002/j.1460-2075.1992.tb05551.x

PubMed ID: 8265659

Title: The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity.

PubMed ID: 8265659

DOI: 10.1073/pnas.90.24.11990

PubMed ID: 8159753

Title: Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors.

PubMed ID: 8159753

DOI: 10.1073/pnas.91.8.3368

PubMed ID: 9054412

Title: The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains.

PubMed ID: 9054412

DOI: 10.1074/jbc.272.11.7167

PubMed ID: 9525897

Title: Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein.

PubMed ID: 9525897

DOI: 10.1074/jbc.273.14.7988

PubMed ID: 10732804

Title: The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain.

PubMed ID: 10732804

DOI: 10.1007/s100480050042

PubMed ID: 11818535

Title: A direct role of SRY and SOX proteins in pre-mRNA splicing.

PubMed ID: 11818535

DOI: 10.1073/pnas.022645899

PubMed ID: 12970737

Title: Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1.

PubMed ID: 12970737

DOI: 10.1038/sj.onc.1206717

PubMed ID: 12764225

Title: Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

PubMed ID: 12764225

DOI: 10.1073/pnas.1137864100

PubMed ID: 12871148

Title: Recombinant expression, purification and characterisation of the HMG domain of human SRY.

PubMed ID: 12871148

DOI: 10.2174/0929866033479004

PubMed ID: 15170344

Title: Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes.

PubMed ID: 15170344

DOI: 10.1021/bi049920a

PubMed ID: 15297880

Title: Regulation of human SRY subcellular distribution by its acetylation/deacetylation.

PubMed ID: 15297880

DOI: 10.1038/sj.emboj.7600352

PubMed ID: 15469996

Title: Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein.

PubMed ID: 15469996

DOI: 10.1095/biolreprod.104.034447

PubMed ID: 15746192

Title: Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.

PubMed ID: 15746192

DOI: 10.1210/me.2004-0334

PubMed ID: 16762365

Title: SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail.

PubMed ID: 16762365

DOI: 10.1016/j.jmb.2006.04.048

PubMed ID: 16904257

Title: The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions.

PubMed ID: 16904257

DOI: 10.1016/j.mce.2006.06.008

PubMed ID: 19349578

Title: Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors.

PubMed ID: 19349578

DOI: 10.1083/jcb.200810106

PubMed ID: 16996051

Title: Sry and the hesitant beginnings of male development.

PubMed ID: 16996051

DOI: 10.1016/j.ydbio.2006.08.049

PubMed ID: 16414182

Title: KRAB: a partner for SRY action on chromatin.

PubMed ID: 16414182

DOI: 10.1016/j.mce.2005.12.011

PubMed ID: 7774012

Title: Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex.

PubMed ID: 7774012

DOI: 10.1016/0092-8674(95)90532-4

PubMed ID: 11563911

Title: Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.

PubMed ID: 11563911

DOI: 10.1006/jmbi.2001.4977

PubMed ID: 16813837

Title: Structure of a complex of tandem HMG boxes and DNA.

PubMed ID: 16813837

DOI: 10.1016/j.jmb.2006.04.059

PubMed ID: 8257986

Title: Mutational analysis of SRY in XY females.

PubMed ID: 8257986

DOI: 10.1002/humu.1380020504

PubMed ID: 9143916

Title: Mutations in SRY and SOX9: testis-determining genes.

PubMed ID: 9143916

DOI: 10.1002/(sici)1098-1004(1997)9:5<388::aid-humu2>3.0.co;2-0

PubMed ID: 2247149

Title: Genetic evidence equating SRY and the testis-determining factor.

PubMed ID: 2247149

DOI: 10.1038/348448a0

PubMed ID: 8353496

Title: Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.

PubMed ID: 8353496

DOI: 10.1093/hmg/2.6.785

PubMed ID: 1570829

Title: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

PubMed ID: 1570829

PubMed ID: 1415266

Title: Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

PubMed ID: 1415266

PubMed ID: 1339396

Title: Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.

PubMed ID: 1339396

DOI: 10.1007/bf00215684

PubMed ID: 8447323

Title: True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.

PubMed ID: 8447323

PubMed ID: 1483689

Title: A familial mutation in the testis-determining gene SRY shared by both sexes.

PubMed ID: 1483689

DOI: 10.1007/bf00220457

PubMed ID: 8105086

Title: A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.

PubMed ID: 8105086

DOI: 10.1136/jmg.30.8.655

PubMed ID: 8019555

Title: Description and functional implications of a novel mutation in the sex-determining gene SRY.

PubMed ID: 8019555

DOI: 10.1002/humu.1380030305

PubMed ID: 7985018

Title: Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY.

PubMed ID: 7985018

DOI: 10.1126/science.7985018

PubMed ID: 7717397

Title: Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

PubMed ID: 7717397

PubMed ID: 7776083

Title: True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene.

PubMed ID: 7776083

DOI: 10.1016/s0022-3476(95)70247-4

PubMed ID: 9678356

Title: Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.

PubMed ID: 9678356

DOI: 10.1159/000014978

PubMed ID: 9521592

Title: A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.

PubMed ID: 9521592

DOI: 10.1007/s004390050680

PubMed ID: 9450909

Title: Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.

PubMed ID: 9450909

DOI: 10.1002/(sici)1098-1004(1998)11:1<90::aid-humu14>3.0.co;2-u

PubMed ID: 9652903

Title: A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.

PubMed ID: 9652903

DOI: 10.2169/internalmedicine.37.467

PubMed ID: 10670762

Title: A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.

PubMed ID: 10670762

DOI: 10.1507/endocrj.46.735

PubMed ID: 10602113

Title: SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.

PubMed ID: 10602113

DOI: 10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5

PubMed ID: 10852465

Title: Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.

PubMed ID: 10852465

DOI: 10.1210/jcem.85.6.6637

PubMed ID: 10843173

Title: A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.

PubMed ID: 10843173

DOI: 10.1210/jcem.85.5.6609

PubMed ID: 10721678

Title: A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

PubMed ID: 10721678

DOI: 10.1007/s100380050026

PubMed ID: 12107262

Title: Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.

PubMed ID: 12107262

DOI: 10.1210/jcem.87.7.8646

PubMed ID: 12793612

Title: True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.

PubMed ID: 12793612

DOI: 10.1515/jpem.2003.16.4.575

PubMed ID: 17063144

Title: Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

PubMed ID: 17063144

DOI: 10.1038/sj.ejhg.5201719

PubMed ID: 28030592

Title: A novel missense mutation 224G>T (R75M) in SRY coding region interferes with nuclear import and results in 46, XY complete gonadal dysgenesis.

PubMed ID: 28030592

DOI: 10.1371/journal.pone.0168484

Sequence Information:

  • Length: 204
  • Mass: 23884
  • Checksum: 84323C30A9C2173E
  • Sequence:
    • MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE NSKGNVQDRV 
KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM LTEAEKWPFF QEAQKLQAMH 
REKYPNYKYR PRRKAKMLPK NCSLLPADPA SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL 
GHLPPINAAS SPQQRDRYSH WTKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.