Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001121371
189217923

H(+)/Cl(-) exchange transporter 5 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  DENT DISEASE 1
  HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
  INCLUDED
  NEPHROLITHIASIS, X-LINKED RECESSIVE
  PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
  PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS,
11
1
11
1
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

EriC - COG0038
ClC_6_like - cd03685
ClC_1_like - cd03683
EriC - cd01031
ClC_3_like - cd03684
Voltage_gated_ClC - cd00400
ClC_euk - cd01036
ClC_like - cd01033
EriC_like - cd01034
Voltage_CLC - pfam00654
COG0517 - COG0517
CBS_pair_23 - cd04636
CBS_pair - cd02205
CBS_pair_SpoIVFB_Eri - cd04612
CBS_pair_EriC_assoc_ - cd04591
CBS - smart00116
CBS_pair_SpoIVFB_Eri - cd04613
CBS - pfam00571




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ClC_6_likecd036857.1e-55101693
ClC_1_likecd036832.7e-69127642
EriCcd010316.6e-15134633
Voltage_gated_ClCcd004008.8e-101135616
ClC_eukcd010368.6e-223135629
ClC_3_likecd03684135640
ClC_likecd010331.4e-05193620
EriC_likecd010341.3e-12202629
COG0517COG05175.9e-09652799
CBS_pair_23cd046361.2e-05662801
CBS_paircd022051.7e-14663801
CBS_pair_EriC_assoc_cd045911.8e-49663801
CBS_pair_SpoIVFB_Ericd046125.6e-05663801
CBS_pair_SpoIVFB_Ericd046130.00092666801
Voltage_CLCpfam006546.8e-126219621
CBSpfam005713.1e-09749804
CBSsmart001163.6e-08665715
CBSsmart001161.7e-11756803

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34800648 Polymorphismp.MET212ILEN/A
OMIM300008.0010 Diseasep.ARG280PROPROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
OMIM300008.0002 Diseasep.ARG648TERDENT DISEASE 1
OMIM300008.0005 Diseasep.ARG704TERNEPHROLITHIASIS, X-LINKED RECESSIVE
OMIM300008.0006 Diseasep.GLY506GLUNEPHROLITHIASIS, X-LINKED RECESSIVE
OMIM300008.0013 Diseasep.GLY260VALDENT DISEASE 1
OMIM300008.0011 Diseasep.GLY57VALNEPHROLITHIASIS, X-LINKED RECESSIVE
OMIM300008.0003 Diseasep.LEU200ARGDENT DISEASE 1
OMIM300008.0007 Diseasep.SER244LEUHYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
OMIM300008.0004 Diseasep.SER520PRODENT DISEASE 1
OMIM300008.0001 Diseasep.TRP279TERDENT DISEASE 1||PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS,||INCLUDED
OMIM300008.0008 Diseasep.TRP343TERPROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258