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    UNC79 unc-79 homolog, NALCN channel complex subunit [ Homo sapiens (human) ]

    Gene ID: 57578, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UNC79provided by HGNC
    Official Full Name
    unc-79 homolog, NALCN channel complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:19966
    See related
    Ensembl:ENSG00000133958 MIM:616884; AllianceGenome:HGNC:19966
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1409
    Summary
    The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in brain (RPKM 2.1), testis (RPKM 1.1) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UNC79 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93333182..93707876)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87565061..87935165)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93799528..94174222)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L18a pseudogene 1 Neighboring gene ubiquitin protein ligase E3 component n-recognin 7 Neighboring gene ribosomal protein L36a pseudogene 4 Neighboring gene BTB domain containing 7 Neighboring gene NANOG hESC enhancer GRCh37_chr14:93810118-93810619 Neighboring gene cytochrome c oxidase subunit 8C Neighboring gene RNA, U6 small nuclear 1258, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93956171-93956670 Neighboring gene NANOG hESC enhancer GRCh37_chr14:94025779-94026281 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:94153830-94154524 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94154525-94155218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94155913-94156606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94155219-94155912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94173027-94173527 Neighboring gene uncharacterized LOC124903367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94215113-94215986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94226183-94226683 Neighboring gene proline rich membrane anchor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94245793-94246294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254197-94254908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254909-94255622

    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. A new neurodevelopmental disorder linked to heterozygous variants in UNC79. Bayat A, et al. Genet Med, 2023 Sep. PMID 37183800
    2. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Bramswig NC, et al. Hum Genet, 2018 Sep. PMID 30167850, Free PMC Article
    3. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Shamseldin HE, et al. Am J Hum Genet, 2016 Jan 7. PMID 26708753, Free PMC Article
    4. The NALCN channel complex is voltage sensitive and directly modulated by extracellular calcium. Chua HC, et al. Sci Adv, 2020 Apr. PMID 32494638, Free PMC Article
    5. A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. Lind PA, et al. Twin Res Hum Genet, 2010 Feb. PMID 20158304, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
      Title: A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
    2. UNC79 variant is associated with neurodevelopmental diseases.
      Title: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
    3. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex
      Title: Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. In the Australian GWAS, one SNP achieved genomewide significance for comorbid AD/ND, rs12882384 in KIAA1409 on chromosome 14 (p = 4.86 x 10(-8))).
      Title: A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.
    Submit: New GeneRIF Correction

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43337, KIAA1409

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein unc-79 homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_051662.1 RefSeqGene

      Range
      102721..379658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346218.2 → NP_001333147.1  protein unc-79 homolog isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL122023, AL136338, AL157858
      Consensus CDS
      CCDS91921.1
      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      UniProtKB/TrEMBL
      A0A8Q3SHN5
      Related
      ENSP00000511644.1, ENST00000695013.1

    2. NM_001395159.1 → NP_001382088.1  protein unc-79 homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL122023, AL136338, AL157858
      Consensus CDS
      CCDS91920.1
      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      UniProtKB/TrEMBL
      A0A8Q3SHI5
      Related
      ENSP00000511643.1, ENST00000695012.1
      Conserved Domains (1) summary
      pfam14776
      Location:114 → 645
      UNC-79; Cation-channel complex subunit UNC-79

    3. NM_020818.5 → NP_065869.3  protein unc-79 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AL122023, AL136338, AL157858
      Consensus CDS
      CCDS9911.2
      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Related
      ENSP00000256339.4, ENST00000256339.8
      Conserved Domains (1) summary
      pfam14776
      Location:1 → 468
      UNC-79; Cation-channel complex subunit UNC-79

    RNA

    1. NR_144398.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' end compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      AL122023

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      93333182..93707876
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537027.3 → XP_011535329.1  protein unc-79 homolog isoform X22

      See identical proteins and their annotated locations for XP_011535329.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:46 → 578
      UNC-79; Cation-channel complex subunit UNC-79

    2. XM_011537026.3 → XP_011535328.1  protein unc-79 homolog isoform X22

      See identical proteins and their annotated locations for XP_011535328.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:46 → 578
      UNC-79; Cation-channel complex subunit UNC-79

    3. XM_047431624.1 → XP_047287580.1  protein unc-79 homolog isoform X15

    4. XM_024449668.2 → XP_024305436.1  protein unc-79 homolog isoform X20

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:114 → 583
      UNC-79; Cation-channel complex subunit UNC-79

    5. XM_017021515.2 → XP_016877004.1  protein unc-79 homolog isoform X18

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8

    6. XM_047431627.1 → XP_047287583.1  protein unc-79 homolog isoform X24

    7. XM_011537018.3 → XP_011535320.1  protein unc-79 homolog isoform X1

      See identical proteins and their annotated locations for XP_011535320.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:158 → 690
      UNC-79; Cation-channel complex subunit UNC-79

    8. XM_017021507.2 → XP_016876996.1  protein unc-79 homolog isoform X4

      UniProtKB/TrEMBL
      G3V2U4

    9. XM_011537022.3 → XP_011535324.1  protein unc-79 homolog isoform X6

      See identical proteins and their annotated locations for XP_011535324.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:158 → 690
      UNC-79; Cation-channel complex subunit UNC-79

    10. XM_017021508.2 → XP_016876997.1  protein unc-79 homolog isoform X5

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8

    11. XM_017021514.2 → XP_016877003.1  protein unc-79 homolog isoform X17

      UniProtKB/TrEMBL
      G3V2U4

    12. XM_017021506.2 → XP_016876995.1  protein unc-79 homolog isoform X3

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8

    13. XM_011537020.3 → XP_011535322.1  protein unc-79 homolog isoform X2

      See identical proteins and their annotated locations for XP_011535322.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:158 → 690
      UNC-79; Cation-channel complex subunit UNC-79

    14. XM_017021510.2 → XP_016876999.1  protein unc-79 homolog isoform X10

      UniProtKB/TrEMBL
      G3V2U4

    15. XM_017021513.2 → XP_016877002.1  protein unc-79 homolog isoform X12

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8

    16. XM_017021516.2 → XP_016877005.1  protein unc-79 homolog isoform X21

      UniProtKB/TrEMBL
      G3V2U4

    17. XM_024449667.2 → XP_024305435.1  protein unc-79 homolog isoform X9

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:159 → 690
      UNC-79; Cation-channel complex subunit UNC-79

    18. XM_011537024.3 → XP_011535326.1  protein unc-79 homolog isoform X13

      See identical proteins and their annotated locations for XP_011535326.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:158 → 690
      UNC-79; Cation-channel complex subunit UNC-79

    19. XM_017021509.2 → XP_016876998.1  protein unc-79 homolog isoform X8

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8

    20. XM_047431622.1 → XP_047287578.1  protein unc-79 homolog isoform X11

    21. XM_011537023.3 → XP_011535325.1  protein unc-79 homolog isoform X7

      See identical proteins and their annotated locations for XP_011535325.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam07964
      Location:1539 → 2012
      Red1; Rec10 / Red1

    22. XM_047431625.1 → XP_047287581.1  protein unc-79 homolog isoform X19

    23. XM_047431623.1 → XP_047287579.1  protein unc-79 homolog isoform X14

    24. XM_017021517.2 → XP_016877006.1  protein unc-79 homolog isoform X25

      UniProtKB/TrEMBL
      G3V2U4

    25. XM_047431626.1 → XP_047287582.1  protein unc-79 homolog isoform X23

    26. XM_011537025.3 → XP_011535327.1  protein unc-79 homolog isoform X16

      See identical proteins and their annotated locations for XP_011535327.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:158 → 690
      UNC-79; Cation-channel complex subunit UNC-79

    27. XM_017021518.2 → XP_016877007.1  protein unc-79 homolog isoform X26

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8

    28. XM_011537029.3 → XP_011535331.1  protein unc-79 homolog isoform X28

      See identical proteins and their annotated locations for XP_011535331.1

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8
      Conserved Domains (1) summary
      pfam14776
      Location:6 → 277
      UNC-79; Cation-channel complex subunit UNC-79

    29. XM_017021519.2 → XP_016877008.1  protein unc-79 homolog isoform X27

      UniProtKB/Swiss-Prot
      B5MDL6, Q6ZUT7, Q9P2D8

    30. XM_017021520.2 → XP_016877009.1  protein unc-79 homolog isoform X29

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      447744..822438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329015.1 → XP_054184990.1  protein unc-79 homolog isoform X22

    2. XM_054329014.1 → XP_054184989.1  protein unc-79 homolog isoform X22

    3. XM_054329007.1 → XP_054184982.1  protein unc-79 homolog isoform X15

    4. XM_054329012.1 → XP_054184987.1  protein unc-79 homolog isoform X20

    5. XM_054329010.1 → XP_054184985.1  protein unc-79 homolog isoform X18

    6. XM_054329017.1 → XP_054184992.1  protein unc-79 homolog isoform X24

    7. XM_054328993.1 → XP_054184968.1  protein unc-79 homolog isoform X1

    8. XM_054328996.1 → XP_054184971.1  protein unc-79 homolog isoform X4

    9. XM_054328998.1 → XP_054184973.1  protein unc-79 homolog isoform X6

    10. XM_054328997.1 → XP_054184972.1  protein unc-79 homolog isoform X5

    11. XM_054329009.1 → XP_054184984.1  protein unc-79 homolog isoform X17

    12. XM_054328995.1 → XP_054184970.1  protein unc-79 homolog isoform X3

    13. XM_054328994.1 → XP_054184969.1  protein unc-79 homolog isoform X2

    14. XM_054329002.1 → XP_054184977.1  protein unc-79 homolog isoform X10

    15. XM_054329004.1 → XP_054184979.1  protein unc-79 homolog isoform X12

    16. XM_054329013.1 → XP_054184988.1  protein unc-79 homolog isoform X21

    17. XM_054329001.1 → XP_054184976.1  protein unc-79 homolog isoform X9

    18. XM_054329005.1 → XP_054184980.1  protein unc-79 homolog isoform X13

    19. XM_054329000.1 → XP_054184975.1  protein unc-79 homolog isoform X8

    20. XM_054329003.1 → XP_054184978.1  protein unc-79 homolog isoform X11

    21. XM_054328999.1 → XP_054184974.1  protein unc-79 homolog isoform X7

    22. XM_054329011.1 → XP_054184986.1  protein unc-79 homolog isoform X19

    23. XM_054329006.1 → XP_054184981.1  protein unc-79 homolog isoform X14

    24. XM_054329018.1 → XP_054184993.1  protein unc-79 homolog isoform X25

    25. XM_054329016.1 → XP_054184991.1  protein unc-79 homolog isoform X23

    26. XM_054329008.1 → XP_054184983.1  protein unc-79 homolog isoform X16

    27. XM_054329019.1 → XP_054184994.1  protein unc-79 homolog isoform X26

    28. XM_054329021.1 → XP_054184996.1  protein unc-79 homolog isoform X28

    29. XM_054329020.1 → XP_054184995.1  protein unc-79 homolog isoform X27

    30. XM_054329022.1 → XP_054184997.1  protein unc-79 homolog isoform X29

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      87565061..87935165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376484.1 → XP_054232459.1  protein unc-79 homolog isoform X22

    2. XM_054376483.1 → XP_054232458.1  protein unc-79 homolog isoform X22

    3. XM_054376476.1 → XP_054232451.1  protein unc-79 homolog isoform X15

    4. XM_054376481.1 → XP_054232456.1  protein unc-79 homolog isoform X20

    5. XM_054376479.1 → XP_054232454.1  protein unc-79 homolog isoform X18

    6. XM_054376486.1 → XP_054232461.1  protein unc-79 homolog isoform X24

    7. XM_054376462.1 → XP_054232437.1  protein unc-79 homolog isoform X1

    8. XM_054376465.1 → XP_054232440.1  protein unc-79 homolog isoform X4

    9. XM_054376467.1 → XP_054232442.1  protein unc-79 homolog isoform X6

    10. XM_054376466.1 → XP_054232441.1  protein unc-79 homolog isoform X5

    11. XM_054376478.1 → XP_054232453.1  protein unc-79 homolog isoform X17

    12. XM_054376464.1 → XP_054232439.1  protein unc-79 homolog isoform X3

    13. XM_054376463.1 → XP_054232438.1  protein unc-79 homolog isoform X2

    14. XM_054376471.1 → XP_054232446.1  protein unc-79 homolog isoform X10

    15. XM_054376473.1 → XP_054232448.1  protein unc-79 homolog isoform X12

    16. XM_054376482.1 → XP_054232457.1  protein unc-79 homolog isoform X21

    17. XM_054376470.1 → XP_054232445.1  protein unc-79 homolog isoform X9

    18. XM_054376474.1 → XP_054232449.1  protein unc-79 homolog isoform X13

    19. XM_054376469.1 → XP_054232444.1  protein unc-79 homolog isoform X8

    20. XM_054376472.1 → XP_054232447.1  protein unc-79 homolog isoform X11

    21. XM_054376468.1 → XP_054232443.1  protein unc-79 homolog isoform X7

    22. XM_054376480.1 → XP_054232455.1  protein unc-79 homolog isoform X19

    23. XM_054376475.1 → XP_054232450.1  protein unc-79 homolog isoform X14

    24. XM_054376487.1 → XP_054232462.1  protein unc-79 homolog isoform X25

    25. XM_054376485.1 → XP_054232460.1  protein unc-79 homolog isoform X23

    26. XM_054376477.1 → XP_054232452.1  protein unc-79 homolog isoform X16

    27. XM_054376488.1 → XP_054232463.1  protein unc-79 homolog isoform X26

    28. XM_054376490.1 → XP_054232465.1  protein unc-79 homolog isoform X28

    29. XM_054376489.1 → XP_054232464.1  protein unc-79 homolog isoform X27

    30. XM_054376491.1 → XP_054232466.1  protein unc-79 homolog isoform X29

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2D8.4 GenPept UniProtKB/Swiss-Prot:Q9P2D8

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