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    SLC9C2 solute carrier family 9 member C2 (putative) [ Homo sapiens (human) ]

    Gene ID: 284525, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC9C2provided by HGNC
    Official Full Name
    solute carrier family 9 member C2 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:28664
    See related
    Ensembl:ENSG00000162753 MIM:620338; AllianceGenome:HGNC:28664
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NHE11; SLC9A11
    Summary
    Predicted to enable potassium:proton antiporter activity and sodium:proton antiporter activity. Predicted to be involved in potassium ion transmembrane transport; regulation of intracellular pH; and sodium ion import across plasma membrane. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 4.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC9C2 in Genome Data Viewer
    Location:
    1q25.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (173500460..173603072, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (172858618..172961223, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173469599..173572211, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNF superfamily member 4 Neighboring gene uncharacterized LOC100506023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2111 Neighboring gene Sharpr-MPRA regulatory region 8886 Neighboring gene PRDX6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2112 Neighboring gene Sharpr-MPRA regulatory region 679 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173429231-173429730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173445479-173446015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2113 Neighboring gene uncharacterized LOC124904456 Neighboring gene MPRA-validated peak459 silencer Neighboring gene Sharpr-MPRA regulatory region 4744 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148 Neighboring gene peroxiredoxin 6 Neighboring gene uncharacterized LOC105371619 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173610829-173612028 Neighboring gene ankyrin repeat domain 45 Neighboring gene small nucleolar RNA U13 Neighboring gene testis expressed 50

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Traditional and emerging roles for the SLC9 Na+/H+ exchangers. Fuster DG, et al. Pflugers Arch, 2014 Jan. PMID 24337822
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC43026

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sodium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sodium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sodium/hydrogen exchanger 11
    Names
    NHE-11
    Na(+)/H(+) exchanger 11
    solute carrier family 9, member 11

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_178527.4 → NP_848622.2  sodium/hydrogen exchanger 11

      See identical proteins and their annotated locations for NP_848622.2

      Status: VALIDATED

      Source sequence(s)
      AK128104, AL139142, BC042592, DB071569
      Consensus CDS
      CCDS1308.1
      UniProtKB/Swiss-Prot
      Q5TAH2, Q86UF3
      UniProtKB/TrEMBL
      B3KXW8
      Related
      ENSP00000356687.3, ENST00000367714.4
      Conserved Domains (3) summary
      cd00038
      Location:873 → 980
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:638 → 731
      Ion_trans; Ion transport protein
      cl01133
      Location:98 → 380
      Na_H_Exchanger; Sodium/hydrogen exchanger family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      173500460..173603072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418170.1 → XP_047274126.1  sodium/hydrogen exchanger 11 isoform X6

    2. XM_017001074.2 → XP_016856563.1  sodium/hydrogen exchanger 11 isoform X5

      UniProtKB/TrEMBL
      B3KXW8

    3. XM_047418169.1 → XP_047274125.1  sodium/hydrogen exchanger 11 isoform X6

    4. XM_017001073.2 → XP_016856562.1  sodium/hydrogen exchanger 11 isoform X5

      UniProtKB/TrEMBL
      B3KXW8

    5. XM_017001071.2 → XP_016856560.1  sodium/hydrogen exchanger 11 isoform X3

      UniProtKB/TrEMBL
      B3KXW8

    6. XM_017001070.2 → XP_016856559.1  sodium/hydrogen exchanger 11 isoform X2

      UniProtKB/TrEMBL
      B3KXW8

    7. XM_017001066.2 → XP_016856555.1  sodium/hydrogen exchanger 11 isoform X1

      UniProtKB/TrEMBL
      B3KXW8
      Conserved Domains (3) summary
      cd00038
      Location:873 → 980
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:638 → 731
      Ion_trans; Ion transport protein
      cl01133
      Location:98 → 380
      Na_H_Exchanger; Sodium/hydrogen exchanger family

    8. XM_017001069.3 → XP_016856558.1  sodium/hydrogen exchanger 11 isoform X2

      UniProtKB/TrEMBL
      B3KXW8

    9. XM_017001065.3 → XP_016856554.1  sodium/hydrogen exchanger 11 isoform X1

      UniProtKB/TrEMBL
      B3KXW8
      Conserved Domains (3) summary
      cd00038
      Location:873 → 980
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:638 → 731
      Ion_trans; Ion transport protein
      cl01133
      Location:98 → 380
      Na_H_Exchanger; Sodium/hydrogen exchanger family

    10. XM_017001072.3 → XP_016856561.1  sodium/hydrogen exchanger 11 isoform X4

      UniProtKB/TrEMBL
      B3KXW8

    11. XM_017001068.3 → XP_016856557.1  sodium/hydrogen exchanger 11 isoform X2

      UniProtKB/TrEMBL
      B3KXW8

    12. XM_011509426.3 → XP_011507728.1  sodium/hydrogen exchanger 11 isoform X1

      UniProtKB/TrEMBL
      B3KXW8
      Conserved Domains (3) summary
      cd00038
      Location:873 → 980
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:638 → 731
      Ion_trans; Ion transport protein
      cl01133
      Location:98 → 380
      Na_H_Exchanger; Sodium/hydrogen exchanger family

    13. XM_017001075.2 → XP_016856564.1  sodium/hydrogen exchanger 11 isoform X7

      Related
      ENST00000466087.1

    14. XM_017001076.2 → XP_016856565.1  sodium/hydrogen exchanger 11 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      172858618..172961223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336120.1 → XP_054192095.1  sodium/hydrogen exchanger 11 isoform X6

    2. XM_054336118.1 → XP_054192093.1  sodium/hydrogen exchanger 11 isoform X5

    3. XM_054336119.1 → XP_054192094.1  sodium/hydrogen exchanger 11 isoform X6

    4. XM_054336117.1 → XP_054192092.1  sodium/hydrogen exchanger 11 isoform X5

    5. XM_054336115.1 → XP_054192090.1  sodium/hydrogen exchanger 11 isoform X3

    6. XM_054336113.1 → XP_054192088.1  sodium/hydrogen exchanger 11 isoform X2

    7. XM_054336110.1 → XP_054192085.1  sodium/hydrogen exchanger 11 isoform X1

    8. XM_054336114.1 → XP_054192089.1  sodium/hydrogen exchanger 11 isoform X2

    9. XM_054336111.1 → XP_054192086.1  sodium/hydrogen exchanger 11 isoform X1

    10. XM_054336116.1 → XP_054192091.1  sodium/hydrogen exchanger 11 isoform X4

    11. XM_054336112.1 → XP_054192087.1  sodium/hydrogen exchanger 11 isoform X2

    12. XM_054336109.1 → XP_054192084.1  sodium/hydrogen exchanger 11 isoform X1

    13. XM_054336121.1 → XP_054192096.1  sodium/hydrogen exchanger 11 isoform X7

    14. XM_054336122.1 → XP_054192097.1  sodium/hydrogen exchanger 11 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TAH2.1 GenPept UniProtKB/Swiss-Prot:Q5TAH2

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