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Protein

Mitochondrial sodium/hydrogen exchanger 9B2

Gene

SLC9B2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Electroneutral exchange of protons for Na+ and Li+ across the inner mitochondrial membrane. Contributes to the organellar volume homeostasis. Required for osteoclast differentiation and bone resorption activity (By similarity).By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei278Important for cation transport1
Sitei279Important for cation transport1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Antiport, Hydrogen ion transport, Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

TCDBi2.A.36.2.2. the monovalent cation:proton antiporter-1 (cpa1) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial sodium/hydrogen exchanger 9B2
Alternative name(s):
Mitochondrial Na(+)/H(+) exchanger NHA2
Na(+)/H(+) exchanger-like domain-containing protein 2
Short name:
NHE domain-containing protein 2
Sodium/hydrogen exchanger-like domain-containing protein 2
Solute carrier family 9 subfamily B member 2
Gene namesi
Name:SLC9B2
Synonyms:NHA2, NHEDC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25143. SLC9B2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei87 – 107HelicalSequence analysisAdd BLAST21
Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Transmembranei235 – 255HelicalSequence analysisAdd BLAST21
Transmembranei266 – 286HelicalSequence analysisAdd BLAST21
Transmembranei307 – 327HelicalSequence analysisAdd BLAST21
Transmembranei341 – 361HelicalSequence analysisAdd BLAST21
Transmembranei363 – 383HelicalSequence analysisAdd BLAST21
Transmembranei388 – 408HelicalSequence analysisAdd BLAST21
Transmembranei425 – 445HelicalSequence analysisAdd BLAST21
Transmembranei493 – 513HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi278 – 279DD → CC: Loss of ion transport activity. 1 Publication2

Organism-specific databases

DisGeNETi133308.
OpenTargetsiENSG00000164038.
PharmGKBiPA162397515.

Polymorphism and mutation databases

BioMutaiSLC9B2.
DMDMi121944426.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003312701 – 537Mitochondrial sodium/hydrogen exchanger 9B2Add BLAST537

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei49PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ86UD5.
PaxDbiQ86UD5.
PeptideAtlasiQ86UD5.
PRIDEiQ86UD5.

PTM databases

iPTMnetiQ86UD5.
PhosphoSitePlusiQ86UD5.

Expressioni

Tissue specificityi

Detected in red blood cells (at protein level).

Gene expression databases

BgeeiENSG00000164038.
CleanExiHS_NHEDC2.
ExpressionAtlasiQ86UD5. baseline and differential.
GenevisibleiQ86UD5. HS.

Organism-specific databases

HPAiHPA047008.

Interactioni

Protein-protein interaction databases

IntActiQ86UD5. 3 interactors.
STRINGi9606.ENSP00000354574.

Structurei

3D structure databases

ProteinModelPortaliQ86UD5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3826. Eukaryota.
COG0025. LUCA.
GeneTreeiENSGT00390000013285.
HOGENOMiHOG000060325.
HOVERGENiHBG108184.
InParanoidiQ86UD5.
OMAiKIVAVAW.
OrthoDBiEOG091G06PH.
PhylomeDBiQ86UD5.
TreeFamiTF319087.

Family and domain databases

InterProiIPR006153. Cation/H_exchanger.
IPR030187. NHA2.
[Graphical view]
PANTHERiPTHR31102:SF6. PTHR31102:SF6. 1 hit.
PfamiPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86UD5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGDEDKRITY EDSEPSTGMN YTPSMHQEAQ EETVMKLKGI DANEPTEGSI
60 70 80 90 100
LLKSSEKKLQ ETPTEANHVQ RLRQMLACPP HGLLDRVITN VTIIVLLWAV
110 120 130 140 150
VWSITGSECL PGGNLFGIII LFYCAIIGGK LLGLIKLPTL PPLPSLLGML
160 170 180 190 200
LAGFLIRNIP VINDNVQIKH KWSSSLRSIA LSIILVRAGL GLDSKALKKL
210 220 230 240 250
KGVCVRLSMG PCIVEACTSA LLAHYLLGLP WQWGFILGFV LGAVSPAVVV
260 270 280 290 300
PSMLLLQGGG YGVEKGVPTL LMAAGSFDDI LAITGFNTCL GIAFSTGSTV
310 320 330 340 350
FNVLRGVLEV VIGVATGSVL GFFIQYFPSR DQDKLVCKRT FLVLGLSVLA
360 370 380 390 400
VFSSVHFGFP GSGGLCTLVM AFLAGMGWTS EKAEVEKIIA VAWDIFQPLL
410 420 430 440 450
FGLIGAEVSI ASLRPETVGL CVATVGIAVL IRILTTFLMV CFAGFNLKEK
460 470 480 490 500
IFISFAWLPK ATVQAAIGSV ALDTARSHGE KQLEDYGMDV LTVAFLSILI
510 520 530
TAPIGSLLIG LLGPRLLQKV EHQNKDEEVQ GETSVQV
Length:537
Mass (Da):57,564
Last modified:August 30, 2005 - v2
Checksum:i85A8BDA60ABE2587
GO
Isoform 2 (identifier: Q86UD5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-502: LCVATVGIAV...VAFLSILITA → SADSITGNFGTERPKLLGPPSTQLRFHFFHIQLST
     503-537: Missing.

Note: No experimental confirmation available.
Show »
Length:454
Mass (Da):48,710
Checksum:i75C1A26C290D3908
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042751159I → T.Corresponds to variant rs7672710dbSNPEnsembl.1
Natural variantiVAR_042752161V → A.Corresponds to variant rs7672707dbSNPEnsembl.1
Natural variantiVAR_042753357F → C.Corresponds to variant rs2276976dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033152420 – 502LCVAT…ILITA → SADSITGNFGTERPKLLGPP STQLRFHFFHIQLST in isoform 2. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_033153503 – 537Missing in isoform 2. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK172823 mRNA. Translation: BAD18790.1.
AC097485 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX06159.1.
BC009732 mRNA. Translation: AAH09732.1.
BC047447 mRNA. Translation: AAH47447.2.
CCDSiCCDS3662.1. [Q86UD5-1]
RefSeqiNP_001287685.1. NM_001300756.1.
NP_849155.2. NM_178833.5. [Q86UD5-1]
XP_006714148.1. XM_006714085.2. [Q86UD5-1]
UniGeneiHs.546482.

Genome annotation databases

EnsembliENST00000362026; ENSP00000354574; ENSG00000164038. [Q86UD5-1]
ENST00000394785; ENSP00000378265; ENSG00000164038. [Q86UD5-1]
GeneIDi133308.
KEGGihsa:133308.
UCSCiuc003hwx.5. human. [Q86UD5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK172823 mRNA. Translation: BAD18790.1.
AC097485 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX06159.1.
BC009732 mRNA. Translation: AAH09732.1.
BC047447 mRNA. Translation: AAH47447.2.
CCDSiCCDS3662.1. [Q86UD5-1]
RefSeqiNP_001287685.1. NM_001300756.1.
NP_849155.2. NM_178833.5. [Q86UD5-1]
XP_006714148.1. XM_006714085.2. [Q86UD5-1]
UniGeneiHs.546482.

3D structure databases

ProteinModelPortaliQ86UD5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ86UD5. 3 interactors.
STRINGi9606.ENSP00000354574.

Protein family/group databases

TCDBi2.A.36.2.2. the monovalent cation:proton antiporter-1 (cpa1) family.

PTM databases

iPTMnetiQ86UD5.
PhosphoSitePlusiQ86UD5.

Polymorphism and mutation databases

BioMutaiSLC9B2.
DMDMi121944426.

Proteomic databases

MaxQBiQ86UD5.
PaxDbiQ86UD5.
PeptideAtlasiQ86UD5.
PRIDEiQ86UD5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000362026; ENSP00000354574; ENSG00000164038. [Q86UD5-1]
ENST00000394785; ENSP00000378265; ENSG00000164038. [Q86UD5-1]
GeneIDi133308.
KEGGihsa:133308.
UCSCiuc003hwx.5. human. [Q86UD5-1]

Organism-specific databases

CTDi133308.
DisGeNETi133308.
GeneCardsiSLC9B2.
HGNCiHGNC:25143. SLC9B2.
HPAiHPA047008.
MIMi611789. gene.
neXtProtiNX_Q86UD5.
OpenTargetsiENSG00000164038.
PharmGKBiPA162397515.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3826. Eukaryota.
COG0025. LUCA.
GeneTreeiENSGT00390000013285.
HOGENOMiHOG000060325.
HOVERGENiHBG108184.
InParanoidiQ86UD5.
OMAiKIVAVAW.
OrthoDBiEOG091G06PH.
PhylomeDBiQ86UD5.
TreeFamiTF319087.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiSLC9B2. human.
GenomeRNAii133308.
PROiQ86UD5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164038.
CleanExiHS_NHEDC2.
ExpressionAtlasiQ86UD5. baseline and differential.
GenevisibleiQ86UD5. HS.

Family and domain databases

InterProiIPR006153. Cation/H_exchanger.
IPR030187. NHA2.
[Graphical view]
PANTHERiPTHR31102:SF6. PTHR31102:SF6. 1 hit.
PfamiPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSL9B2_HUMAN
AccessioniPrimary (citable) accession number: Q86UD5
Secondary accession number(s): B5ME52, Q6ZMD8, Q96D95
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: August 30, 2005
Last modified: November 2, 2016
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.