KEGG   Homo sapiens (human): 2743
Entry
2743              CDS       T01001                                 

Gene name
GLRB, HKPX2
Definition
(RefSeq) glycine receptor beta
  KO
K05196  glycine receptor beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04080  Neuroactive ligand-receptor interaction
Disease
H00769  Hyperekplexia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    2743 (GLRB)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    2743 (GLRB)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    2743 (GLRB)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Calcium ion-dependent exocytosis
   Acrosomal exocytosis proteins
    2743 (GLRB)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Glycine
   2743 (GLRB)
SSDB
Motif
Pfam: Neur_chan_LBD Neur_chan_memb DUF3267
Other DBs
NCBI-GeneID: 2743
NCBI-ProteinID: NP_000815
OMIM: 138492
HGNC: 4329
Ensembl: ENSG00000109738
Vega: OTTHUMG00000161954
Pharos: P48167(Tclin)
UniProt: P48167
Position
4q32.1
AA seq 497 aa
MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQSAEDLARVPANSTSNIL
NRLLVSYDPRIRPNFKGIPVDVVVNIFINSFGSIQETTMDYRVNIFLRQKWNDPRLKLPS
DFRGSDALTVDPTMYKCLWKPDLFFANEKSANFHDVTQENILLFIFRDGDVLVSMRLSIT
LSCPLDLTLFPMDTQRCKMQLESFGYTTDDLRFIWQSGDPVQLEKIALPQFDIKKEDIEY
GNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAPTLLIVVLSWLSFWINPDASAARVP
LGIFSVLSLASECTTLAAELPKVSYVKALDVWLIACLLFGFASLVEYAVVQVMLNNPKRV
EAEKARIAKAEQADGKGGNVAKKNTVNGTGTPVHISTLQVGETRCKKVCTSKSDLRSNDF
SIVGSLPRDFELSNYDCYGKPIEVNNGLGKSQAKNNKKPPPAKPVIPTAAKRIDLYARAL
FPFCFLFFNVIYWSIYL
NT seq 1494 nt   +upstreamnt  +downstreamnt
atgaagtttttattgacaactgcctttttaattttaatttccttgtgggtggaagaagcc
tattctaaggaaaagtcttcaaagaaagggaaggggaaaaagaagcagtatctatgccca
tctcagcagtcagcagaggaccttgcccgagtacctgccaactccactagcaatatcttg
aacaggttattggtcagttatgatcccaggataagaccaaacttcaaaggcattcctgtt
gatgtagtagtcaacatttttattaacagttttggatccattcaagaaacaacaatggac
tatagagttaacatcttcctgagacaaaaatggaatgaccccaggctgaagctccccagt
gattttaggggttcagatgcactgacagtggatccaacaatgtacaagtgtttatggaaa
cctgatttattttttgcaaatgaaaaaagtgccaattttcatgatgtgacccaggaaaac
atcctcctctttatttttcgtgatggagatgtccttgtcagcatgaggttatctattact
ctttcatgccctttggacttgacattgtttcccatggatacacaacgttgcaagatgcaa
ctggagagctttggttacacaactgatgatttacgatttatctggcagtcaggagatcct
gtgcaattagaaaaaattgccttgcctcaatttgatatcaaaaaggaagatattgaatat
ggtaactgtacaaaatactataaaggcacgggctactacacatgcgtggaagtcatcttc
accctgaggaggcaggtcggcttttacatgatgggggtctacgccccaactctgctcatt
gttgttctctcctggctttccttctggatcaacccggacgcgagtgctgccagagtgccc
ctgggtatcttctcagtcctcagcttggcctctgagtgcacaacccttgccgctgagctt
cccaaagtttcctatgtgaaggctcttgatgtttggcttattgcttgccttctctttggg
tttgcttccctggtggagtatgcagttgtccaggtgatgctgaacaaccccaaaagggtt
gaagctgaaaaagccagaattgctaaggctgagcaagcagatggaaaaggtggaaatgtg
gctaaaaagaatactgtgaatggaacagggactcctgttcatattagcactttgcaggtt
ggtgagaccagatgcaaaaaagtttgtacttctaagtctgatctgagatctaatgacttc
agcattgttggaagcttaccaagagattttgaactatccaattatgactgctatggaaaa
cccattgaagttaacaacggacttgggaaatctcaggctaagaacaacaagaagcctccc
cctgcgaaacctgttattccaacagcagcaaagcgaattgatctttatgcaagagcattg
tttcctttctgcttcttgttcttcaatgttatatattggtctatatatttatga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (29)   
   RefSeq(nuc) (7)   
   GenBank (11)   
   EMBL (11)   
Protein domain (3)   
   Pfam (3)   
All databases (72)   

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