Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6736
Gene name	Sex determining region Y
Gene symbol	SRY
Synonyms (NCBI Gene)	SRXX1SRXY1TDFTDY
Chromosome	Y
Chromosome location	Yp11.2
Summary	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 g

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894956	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894957	C>G	Pathogenic	Missense variant, coding sequence variant
rs104894958	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894959	G>C	Pathogenic	Missense variant, coding sequence variant
rs104894964	T>A	Pathogenic	Missense variant, coding sequence variant
rs104894965	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894966	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894967	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894968	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894969	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894970	T>A	Pathogenic	Coding sequence variant, stop gained
rs104894971	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894972	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894973	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs104894974	C>G	Pathogenic	Missense variant, coding sequence variant
rs104894975	A>T	Pathogenic	Coding sequence variant, stop gained
rs104894976	G>A,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs104894977	G>A	Pathogenic	Coding sequence variant, stop gained
rs606231178	CTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231179	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519627	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556370543	G>A	Pathogenic	Coding sequence variant, stop gained
rs1556370548	G>C	Pathogenic	Coding sequence variant, stop gained
rs1556370556	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1556370558	G>T	Pathogenic	Coding sequence variant, stop gained
rs1556370576	C>A	Pathogenic	Coding sequence variant, missense variant
rs1603308308	G>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments
MIRT1391397	hsa-miR-196a	CLIP-seq
MIRT1391398	hsa-miR-196b	CLIP-seq
MIRT1391399	hsa-miR-3927	CLIP-seq
MIRT1391400	hsa-miR-487b	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
NR5A1	Activation	11207191
SP1	Unknown	9582429
TFCP2	Unknown	19902333
WT1	Activation	11278460

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21412441
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IDA	1425584, 8265659
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9054412, 16166090
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21412441, 28030592
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	1425584, 8265659
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007548	Process	Sex differentiation	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	24681825
GO:0016607	Component	Nuclear speck	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030238	Process	Male sex determination	IBA
GO:0030238	Process	Male sex determination	IEA
GO:0030238	Process	Male sex determination	NAS	1695712
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	21412441
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	16582099
GO:2000020	Process	Positive regulation of male gonad development	IDA	21412441

MIM	HGNC	e!Ensembl
480000	11311	ENSG00000184895

Q05066

Protein name

Sex-determining region Y protein (Testis-determining factor)

Protein function

Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) a

PDB

1HRY , 1HRZ , 1J46 , 1J47 , 2GZK , 6EDB , 7YHO , 7YHP , 7YHQ , 9BVD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00505	HMG_box	60 → 128	HMG (high mobility group) box	Domain

Sequence

MQSYASAMLSVFNSDDYSPAVQENIPALRRSSSFLCTESCNSKYQCETGENSKGNVQDRV
KRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMH
REKYPNYKYRPRRKAKMLPKNCSLLPADPASVLCSEVQLDNRLYRDDCTKATHSRMEHQL
GHLPPINAASSPQQRDRYSHWTKL

Sequence length

204

Interactions

View interactions

	Reactome
			Deactivation of the beta-catenin transactivating complex

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XX sex reversal 1	Likely pathogenic; Pathogenic	rs2124486090, rs1556370543	RCV003236645 RCV000502512
46,XY disorder of sex development	Likely pathogenic	rs2124486291	RCV001533005
46,XY sex reversal 1	Likely pathogenic; Pathogenic	rs2124486256, rs1556370558, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970 View all (15 more)	RCV001964433 RCV003142381 RCV000010390 RCV000010391 RCV000010392 RCV000010393 RCV000010394 RCV000010396 RCV000010397 RCV000010398 RCV000010399 RCV000010400 RCV000010401 RCV000010402 RCV000010403 RCV000010404 RCV000010405 RCV000010406 RCV000010407 RCV000010408 RCV000010409 RCV000010410 RCV003509862 RCV003622889 RCV000445559 RCV000502512 RCV000541250 RCV000528652 RCV000581278 RCV000646759 RCV000646760 RCV000822498
46,XY TRUE HERMAPHRODITISM	Pathogenic	rs104894959	RCV000010395
SRY-related disorder	Pathogenic; Likely pathogenic	rs2124486099, rs2124486144	RCV003924109 RCV003964129

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
18 Hydroxylase deficiency	Associate	19661285
46 XX Disorders of Sex Development	Associate	25351776, 31476840, 34050715, 38003010
46 XX Testicular Disorders of Sex Development	Associate	1438307, 14689056, 18990383, 21344134, 23157850, 24003159, 24668626, 25169080, 28030592, 28379671, 32239110, 33131361, 34098200, 36026611, 37697768, 38045677, 39380113, 7774012, 8782045 View all (4 more)
46 XY female	Associate	17493621, 36694125
Addison Disease	Associate	18322303
Adrenal hyperplasia congenital type 5	Associate	26345865
Allanson Pantzar McLeod syndrome	Associate	20849656, 35222615
Amenorrhea	Associate	17493621, 18990383, 20302644, 36694125
Androgen Insensitivity Syndrome	Associate	27821113
Anorchia	Associate	8105086
Atelosteogenesis type 2	Associate	36672822
Azoospermia	Associate	15652914, 25169080, 32389125
Bulbo Spinal Atrophy X Linked	Associate	27393415
Calloso genital dysplasia	Associate	22815844
Carcinogenesis	Associate	33941222
Cardiomegaly	Associate	33870841
Chromosome Aberrations	Associate	37697768
Developmental Disabilities	Associate	28379671, 38254992
Disorder of Sex Development 46 XY	Associate	1438307, 14689056, 17493621, 20302644, 20849656, 21344134, 21412441, 23157850, 24003159, 34338568, 36617173, 36694125, 39788310, 8782045, 9093193, 9718346 View all (1 more)
Disorders of Sex Development	Associate	21412441, 22815844, 24379036, 25351776, 25900885, 26573569, 26980296, 27087521, 27490115, 28030592, 29219112, 29478779, 32239110, 33578586, 35123446 View all (4 more)
Disorders of Sex Development	Stimulate	37697768
Dwarfism Pituitary	Associate	33578586
Dysgerminoma	Associate	27087521, 28030592, 36694125
Endodermal Sinus Tumor	Associate	36694125
Eunuchism	Associate	36026611
Eye Diseases	Associate	19641633
Frasier Syndrome	Associate	22815844
Glomerulonephritis IGA	Associate	35769467
Gonadal Disorders	Associate	20347080, 36694125
Gonadal Dysgenesis	Associate	12764225, 1415266, 1438307, 17493621, 21344134, 21868002, 21982289, 24003159, 27821113, 35123446, 7813448, 7951580, 8105086
Gonadal Dysgenesis 46 XY	Associate	1415266, 15665984, 18990383, 19513096, 21344134, 21868002, 22815844, 23157850, 25813279, 28030592, 36631813, 37994022, 39788310, 8105086
Gonadal Dysgenesis Mixed	Associate	25860218
Gonadoblastoma	Associate	17493621, 19513096, 20849656, 22815844, 27087521, 33870841, 36694125
Granulomatous Disease Chronic	Associate	21868002
Growth Disorders	Associate	20849656
Growth Disorders	Stimulate	36026611
Gynecomastia	Associate	38045677
Hirschsprung Disease	Associate	25267720
Hirsutism	Associate	33870841
Hypertension	Associate	20359597
Hypogonadism	Associate	21344134, 22815844, 38045677
Hypospadias	Associate	28498391
Infertility	Associate	15652914, 20170343, 20849656, 21653197, 24379036, 25169080, 25374395, 35123446, 38045677
Infertility Male	Associate	21948751
Leprosy Tuberculoid	Associate	19661285
Leri Weil syndrome	Associate	10507731
Leydig Cell Tumor	Associate	33131361
Lymphatic Metastasis	Associate	32019439
Neoplasms	Associate	17493621, 21982289, 24241283, 26040764, 26808509, 32019439, 33870841, 36918555
Neoplasms Germ Cell and Embryonal	Associate	20849656, 36694125
Neoplasms Germ Cell and Embryonal	Stimulate	33870841
Oligospermia	Associate	35123446
Osteoarthritis	Associate	24905701
Osteoporosis	Associate	31409771
Osteoporotic Fractures	Inhibit	31409771
Ovarian Diseases	Associate	28030592
Posterior Leukoencephalopathy Syndrome	Associate	7717397
Reproductive Tract Infections	Associate	29373757
Seminoma	Associate	20849656, 33870841
Sex Chromosome Disorders of Sex Development	Associate	26573569, 35123446
Stomach Neoplasms	Associate	24338397, 32019439
Testicular Diseases	Associate	27378692, 29478779, 36026611
Thrombosis	Associate	32423094
Thyroiditis Chronic	Associate	20170343
Turner Syndrome	Associate	19030103, 20347080, 20849656, 31267991, 33870841, 9783714
Uterine Cervical Neoplasms	Associate	20564139

SRY (sex determining region Y)