Details for: SLC6A5

Gene ID: 9152

Symbol: SLC6A5

Ensembl ID: ENSG00000165970

Description: solute carrier family 6 member 5

Associated with

Other Information

Genular Protein ID: 1098180826

Symbol: SC6A5_HUMAN

Name: Sodium- and chloride-dependent glycine transporter 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9845349

Title: Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome.

PubMed ID: 9845349

DOI: 10.1016/s0014-5793(98)01390-8

PubMed ID: 10381548

Title: Characterization of multiple forms of the human glycine transporter type-2.

PubMed ID: 10381548

DOI: 10.1016/s0169-328x(99)00135-7

PubMed ID: 10606742

Title: Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter.

PubMed ID: 10606742

DOI: 10.1016/s0014-5793(99)01636-1

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 16751771

Title: Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

PubMed ID: 16751771

DOI: 10.1038/ng1814

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 22753417

Title: A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

PubMed ID: 22753417

DOI: 10.1074/jbc.m111.319244

PubMed ID: 31370103

Title: The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.

PubMed ID: 31370103

DOI: 10.1111/ejn.14533

Sequence Information:

  • Length: 797
  • Mass: 87434
  • Checksum: 47D8A9B179896CE0
  • Sequence:
  • MDCSAPKEMN KLPANSPEAA AAQGHPDGPC APRTSPEQEL PAAAAPPPPR VPRSASTGAQ 
    TFQSADARAC EAERPGVGSC KLSSPRAQAA SAALRDLREA QGAQASPPPG SSGPGNALHC 
    KIPFLRGPEG DANVSVGKGT LERNNTPVVG WVNMSQSTVV LATDGITSVL PGSVATVATQ 
    EDEQGDENKA RGNWSSKLDF ILSMVGYAVG LGNVWRFPYL AFQNGGGAFL IPYLMMLALA 
    GLPIFFLEVS LGQFASQGPV SVWKAIPALQ GCGIAMLIIS VLIAIYYNVI ICYTLFYLFA 
    SFVSVLPWGS CNNPWNTPEC KDKTKLLLDS CVISDHPKIQ IKNSTFCMTA YPNVTMVNFT 
    SQANKTFVSG SEEYFKYFVL KISAGIEYPG EIRWPLALCL FLAWVIVYAS LAKGIKTSGK 
    VVYFTATFPY VVLVILLIRG VTLPGAGAGI WYFITPKWEK LTDATVWKDA ATQIFFSLSA 
    AWGGLITLSS YNKFHNNCYR DTLIVTCTNS ATSIFAGFVI FSVIGFMANE RKVNIENVAD 
    QGPGIAFVVY PEALTRLPLS PFWAIIFFLM LLTLGLDTMF ATIETIVTSI SDEFPKYLRT 
    HKPVFTLGCC ICFFIMGFPM ITQGGIYMFQ LVDTYAASYA LVIIAIFELV GISYVYGLQR 
    FCEDIEMMIG FQPNIFWKVC WAFVTPTILT FILCFSFYQW EPMTYGSYRY PNWSMVLGWL 
    MLACSVIWIP IMFVIKMHLA PGRFIERLKL VCSPQPDWGP FLAQHRGERY KNMIDPLGTS 
    SLGLKLPVKD LELGTQC

Genular Protein ID: 3927928295

Symbol: Q4VAM6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

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

Sequence Information:

  • Length: 797
  • Mass: 87345
  • Checksum: 543CB8A5F407521C
  • Sequence:
  • MDCSAPKEMN KLPANSPEAA AAQGHPDGPC APRTSPEQEL PAAAAPPPPR VPRSASTGAQ 
    TFQSADARAC EAERPGVGSC KLSSPRAQAA SAALRDLREA QGAQASPPPG SSGPGNALHC 
    KIPSLRGPEG DANVSVGKGT LERNNTPVVG WVNMSQSTVV LGTDGITSVL PGSVATVATQ 
    EDEQGDENKA RGNWSSKLDF ILSMVGYAVG LGNVWRFPYL AFQNGGGAFL IPYLMMLALA 
    GLPIFFLEVS LGQFASQGPV SVWKAIPALQ GCGIAMLIIS VLIAIYYNVI ICYTLFYLFA 
    SFVSVLPWGS CNNPWNTPEC KDKTKLLLDS CVISDHPKIQ IKNSTFCMTA YPNVTMVNFT 
    SQANKTFVSG SEEYFKYFVL KISAGIEYPG EIRWPLALCL FLAWVIVYAS LAKGIKTSGK 
    VVYFTATFPY VVLVILLIRG VTLPGAGAGI WYFITPNWEK LTNATVWKDA ATQIFFSLSA 
    AWGGLITLSS YNKFHNNCYR DTLIVTCTNS ATSIFAGFVI FSVIGFMANE RKVNIENVAD 
    QGPGIAFVVY PEALTRLPLS PFWAIIFFLM LLTLGLDTMF ATIETIVTSI SDEFPKYLRT 
    HKPVFTLGCC ICFFIMGFPM ITQGGIYMFQ LVDTYAASYA LVIIAIFELV GISYVYGLQR 
    FCEDIEMMIG FQPNIFWKVC WAFVTPTILT FILCFSFYQW EPMTYGSYRY PNWSMVLGWL 
    MLACSVIWIP IMFVIKMHLA PGRFIERLKL VCSPQPDWGP FLAQHRGERY KNMIDPLGTS 
    SLGLKLPVKD LELGTQC

Genular Protein ID: 2953148739

Symbol: Q4VAM4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

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

Sequence Information:

  • Length: 395
  • Mass: 43896
  • Checksum: 3E59A66F6EE6CC6F
  • Sequence:
  • MMLALAGLPI FFLEVSLGQF ASQGPVSVWK AIPALQGCGI AMLIISVLIA IYYNVIICYT 
    LFYLFASFVS VLPWGSCNNP WNTPECKDKT KLLLDSCVIS DHPKIQIKNS TFCMTAYPNV 
    TMVNFTSQAN KTFVSGSEEY FKYFVLKISA GIEYPGEIRW PLALCLFLAW VIVYASLAKG 
    IKTSGKVVYF TATFPYVVLV ILLIRGVTLP GAGAGIWYFI TPNWEKLTNA TVWKDAATQI 
    FFSLSAAWGG LITLSSYNKF HNNCYRDTLI VTCTNSATSI FAGFVIFSVI GFMANERKVN 
    IENVADQGPG IAFVVYPEAL TRLPLSPFWA IIFFLMLLTL GLDTMFATIE TIVTSISDEF 
    PKYLRTHKPV FTLGCCICFF IMGFPMITQG GIYMF

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.