• Gene id: 161497

Gene Summary

• Gene Symbol: STRC   Gene   UCSC   Ensembl
• Aliases: DFNB16
• Gene name: stereocilin
• Alternate names: stereocilin,
• Gene location: 15q15.3 (43618799: 43599562)     Exons: 29     NC_000015.10
• Gene summary(Entrez): This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a
• OMIM: 606440

Protein Summary

• Protein general information: Q7RTU9  
  • Name: Stereocilin
  • Length: 1775  
  • Mass: 192,967
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MALSLWPLLLLLLLLLLLSFAVTLAPTGPHSLDPGLSFLKSLLSTLDQAPQGSLSRSRFFTFLANISSSFEPGRM
  GEGPVGEPPPLQPPALRLHDFLVTLRGSPDWEPMLGLLGDMLALLGQEQTPRDFLVHQAGVLGGLVEVLLGALVP
  GGPPTPTRPPCTRDGPSDCVLAADWLPSLLLLLEGTRWQALVQVQPSVDPTNATGLDGREAAPHFLQGLLGLLTP
  TGELGSKEALWGGLLRTVGAPLYAAFQEGLLRVTHSLQDEVFSILGQPEPDTNGQCQGGNLQQLLLWGVRHNLSW
  DVQALGFLSGSPPPPPALLHCLSTGVPLPRASQPSAHISPRQRRAITVEALCENHLGPAPPYSISNFSIHLLCQH
  TKPATPQPHPSTTAICQTAVWYAVSWAPGAQGWLQACHDQFPDEFLDAICSNLSFSALSGSNRRLVKRLCAGLLP
  PPTSCPEGLPPVPLTPDIFWGCFLENETLWAERLCGEASLQAVPPSNQAWVQHVCQGPTPDVTASPPCHIGPCGE
  RCPDGGSFLVMVCANDTMYEVLVPFWPWLAGQCRISRGGNDTCFLEGLLGPLLPSLPPLGPSPLCLTPGPFLLGM
  LSQLPRCQSSVPALAHPTRLHYLLRLLTFLLGPGAGGAEAQGMLGRALLLSSLPDNCSFWDAFRPEGRRSVLRTI
  GEYLEQDEEQPTPSGFEPTVNPSSGISKMELLACFSPVLWDLLQREKSVWALQILVQAYLHMPPENLQQLVLSAE
  REAAQGFLTLMLQGKLQGKLQVPPSEEQALGRLTALLLQRYPRLTSQLFIDLSPLIPFLAVSDLMRFPPSLLAND
  SVLAAIRDYSPGMRPEQKEALAKRLLAPELFGEVPAWPQELLWAVLPLLPHLPLENFLQLSPHQIQALEDSWPAA
  GLGPGHARHVLRSLVNQSVQDGEEQVRRLGPLACFLSPEELQSLVPLSDPTGPVERGLLECAANGTLSPEGRVAY
  ELLGVLRSSGGAVLSPRELRVWAPLFSQLGLRFLQELSEPQLRAMLPVLQGTSVTPAQAVLLLGRLLPRHDLSLE
  ELCSLHLLLPGLSPQTLQAIPRRVLVGACSCLAPELSRLSACQTAALLQTFRVKDGVKNMGTTGAGPAVCIPGQP
  IPTTWPDCLLPLLPLKLLQLDSLALLANRRRYWELPWSEQQAQFLWKKMQVPTNLTLRNLQALGTLAGGMSCEFL
  QQINSMVDFLEVVHMIYQLPTRVRGSLRACIWAELQRRMAMPEPEWTTVGPELNGLDSKLLLDLPIQLMDRLSNE
  SIMLVVELVQRAPEQLLALTPLHQAALAERALQNLAPKETPVSGEVLETLGPLVGFLGTESTRQIPLQILLSHLS
  QLQGFCLGETFATELGWLLLQESVLGKPELWSQDEVEQAGRLVFTLSTEAISLIPREALGPETLERLLEKQQSWE
  QSRVGQLCREPQLAAKKAALVAGVVRPAAEDLPEPVPNCADVRGTFPAAWSATQIAEMELSDFEDCLTLFAGDPG
  LGPEELRAAMGKAKQLWGPPRGFRPEQILQLGRLLIGLGDRELQELILVDWGVLSTLGQIDGWSTTQLRIVVSSF
  LRQSGRHVSHLDFVHLTALGYTLCGLRPEELQHISSWEFSQAALFLGTLHLQCSEEQLEVLAHLLVLPGGFGPIS
  NWGPEIFTEIGTIAAGIPDLALSALLRGQIQGVTPLAISVIPPPKFAVVFSPIQLSSLTSAQAVAVTPEQMAFLS
  PEQRRAVAWAQHEGKESPEQQGRSTAWGLQDWSRPSWSLVLTISFLGHLL

• Structural information:
  • Interpro: IPR026061  IPR026664  
  • STRING: ENSP00000401513
• Other Databases: GeneCards:  STRC  Malacards:  STRC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0007605	sensory perception of sound	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0032426	stereocilium tip	ISS	cellular component
GO:0032426	stereocilium tip	IBA	cellular component
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:0060088	auditory receptor cell stereocilium organization	ISS	biological process
GO:0060091	kinocilium	ISS	cellular component
GO:0060091	kinocilium	IBA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0007605	sensory perception of sound	IBA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0032426	stereocilium tip	IEA	cellular component
GO:0032426	stereocilium tip	ISS	cellular component
GO:0032426	stereocilium tip	IBA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:0060088	auditory receptor cell stereocilium organization	IEA	biological process
GO:0060088	auditory receptor cell stereocilium organization	ISS	biological process
GO:0060091	kinocilium	IEA	cellular component
GO:0060091	kinocilium	ISS	cellular component
GO:0060091	kinocilium	IBA	cellular component
GO:0060091	kinocilium	IEA	cellular component
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0007605	sensory perception of sound	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0032426	stereocilium tip	ISS	cellular component
GO:0032426	stereocilium tip	IBA	cellular component
GO:0060088	auditory receptor cell stereocilium organization	ISS	biological process
GO:0060091	kinocilium	ISS	cellular component
GO:0060091	kinocilium	IBA	cellular component

Diseases

Associated diseases	References
Noonan syndrome	KEGG: H00523
Deafness	MIK: 17098888
Deafness	OMIM: 606440
Congenital dyserythropoietic anemia type I (CDAI)	INFBASE: 12825070
Asthenoteratozoospermia	MIK: 12825070
Male factor infertility	MIK: 12825070
Spermatogenesis defects	MIK: 24690399
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 12825070
Spermatogenic defects	MIK: 24690399

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21686705	Infertility	Deletion of genes at 15q15.3			Male infertility	KIAA0377  CKMT1B and CATSPER2
17098888	Infertility	Deletion of genes at 15q15.3			Male infertility	KIAA0377  CKMT1B and CATSPER2
12825070	Infertility	70 kb deletion	French		Male infertility	KIAA0377 CATSPER2
24690399	Male infertility, severely impaired spermatogenesis	Deletion in the 15q15.3 region		2 brothers suffering from male infertility	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881