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    RASSF2 Ras association domain family member 2 [ Homo sapiens (human) ]

    Gene ID: 9770, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RASSF2provided by HGNC
    Official Full Name
    Ras association domain family member 2provided by HGNC
    Primary source
    HGNC:HGNC:9883
    See related
    Ensembl:ENSG00000101265 MIM:609492; AllianceGenome:HGNC:9883
    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
    CENP-34; RASFADIN
    Summary
    This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 57.7), bone marrow (RPKM 38.0) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20p13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (4780023..4823608, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (4819268..4863842, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4760669..4804254, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7998 Neighboring gene IDI1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12646 Neighboring gene prion locus lncRNA, testis expressed Neighboring gene uncharacterized LOC105372511 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4760952-4761170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4775280-4776140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4776141-4777001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17498 Neighboring gene uncharacterized LOC107985392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4816447-4816946 Neighboring gene solute carrier family 23 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4874687-4875187 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4877415-4877936 Neighboring gene Sharpr-MPRA regulatory region 14391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12650 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:4953768-4954967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4979144-4979644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12651 Neighboring gene SLC23A2 promoter P2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17504 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4983486-4984137 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:4984138-4984788 Neighboring gene SLC23A2 promoter P1 Neighboring gene ribosomal protein S21 pseudogene 7

    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
    • 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. The RUNX1-ETO target gene RASSF2 suppresses t(8;21) AML development and regulates Rac GTPase signaling. Stoner SA, et al. Blood Cancer J, 2020 Feb 6. PMID 32029705, Free PMC Article
    2. Association Between RASSF2 Methylation and Gastric Cancer: A PRISMA-Compliant Systematic Review and Meta-Analysis. Zhou K, et al. DNA Cell Biol, 2019 Oct. PMID 31453724
    3. CircRASSF2 promotes laryngeal squamous cell carcinoma progression by regulating the miR-302b-3p/IGF-1R axis. Tian L, et al. Clin Sci (Lond), 2019 May 15. PMID 30992382
    4. Relationship between methylation status of RASSF2A gene promoter and endometriosis-associated ovarian cancer. Xia Y, et al. J Biol Regul Homeost Agents, 2018 Jan-Feb. PMID 29504361
    5. Aberrant hypermethylation of RASSF2 in tumors and peripheral blood DNA as a biomarker for malignant progression and poor prognosis of esophageal squamous cell carcinoma. Guo W, et al. Clin Exp Metastasis, 2016 Jan. PMID 26482475

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hyperhomocysteinemia may aggravate abdominal aortic aneurysm formation by up-regulating RASSF2.
      Title: Hyperhomocysteinemia may aggravate abdominal aortic aneurysm formation by up-regulating RASSF2.
    2. RASSF effectors couple diverse RAS subfamily GTPases to the Hippo pathway.
      Title: RASSF effectors couple diverse RAS subfamily GTPases to the Hippo pathway.
    3. The RUNX1-ETO target gene RASSF2 suppresses t(8;21) AML development and regulates Rac GTPase signaling.
      Title: The RUNX1-ETO target gene RASSF2 suppresses t(8;21) AML development and regulates Rac GTPase signaling.
    4. suggest that circRASSF2 is a central component linking circRNAs to progression of LSCC via an miR-302b-3p/IGF-1R axis
      Title: CircRASSF2 promotes laryngeal squamous cell carcinoma progression by regulating the miR-302b-3p/IGF-1R axis.
    5. RASSF2 methylation was significantly higher in gastric cancer than in noncancerous tissues; RASSF2 gene methylation was not associated with gender and was not associated with lymph node metastasis.
      Title: Association Between RASSF2 Methylation and Gastric Cancer: A PRISMA-Compliant Systematic Review and Meta-Analysis.
    6. Results showed that in the endometrial adenocarcinoma (OEA group) and ovarian clear cell carcinoma (OCC group) groups, the methylation degrees of the RASSF2A promoter were obviously higher than that of the other two groups. The expression level of RASSF2A mRNA in the OEA and OCC groups was lower than that of the other two groups.
      Title: Relationship between methylation status of RASSF2A gene promoter and endometriosis-associated ovarian cancer.
    7. we confirmed that the RASSF2-PAR-4 axis was mainly responsible for miR-7 functions in CAFs using bioinformatics methods. Overexpression of miR-7 in CAFs led to down-regulation of RASSF2, which dramatically decreased the secretion of PAR-4 from CAFs and then enhanced the proliferation and migration of the co-cultured cancer cells.
      Title: Cancer-associated fibroblasts promote cancer cell growth through a miR-7-RASSF2-PAR-4 axis in the tumor microenvironment.
    8. Results suggest that down-regulation of RASSF2, and RASSF6 is a tumor-specific phenomenon and their inactivation through CpG island methylation may play important roles in gastric cardia carcinogenesis.
      Title: Decreased expression and frequent promoter hypermethylation of RASSF2 and RASSF6 correlate with malignant progression and poor prognosis of gastric cardia adenocarcinoma.
    9. The statistically most significant association rs4813720 correlates with RASSF2 expression and may play a significant role in childhood ALL etiology.
      Title: A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants.
    10. RASSF2 may be an important molecular marker for carcinogenesis, prognosis and progression in gastric cancer
      Title: Prognostic importance of RASSF2 expression in patients with gastric cancer who had undergone radical gastrectomy.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    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

    EBI GWAS Catalog

    Description
    GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
    EBI GWAS Catalog

    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

    • KIAA0168, DKFZp781O1747

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bone remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of non-canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of non-canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ras association domain-containing protein 2
    Names
    Ras association (RalGDS/AF-6) domain family 2
    Ras association (RalGDS/AF-6) domain family member 2
    centromere protein 34

    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.

    mRNA and Protein(s)

    1. NM_014737.3 → NP_055552.1  ras association domain-containing protein 2

      See identical proteins and their annotated locations for NP_055552.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL133354, D79990, DA333367
      Consensus CDS
      CCDS13083.1
      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Related
      ENSP00000368710.3, ENST00000379400.8
      Conserved Domains (2) summary
      cd01784
      Location:177 → 263
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:277 → 316
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    2. NM_170774.2 → NP_739580.1  ras association domain-containing protein 2

      See identical proteins and their annotated locations for NP_739580.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL133354, AY154472, BC117118
      Consensus CDS
      CCDS13083.1
      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Related
      ENSP00000368684.2, ENST00000379376.2
      Conserved Domains (2) summary
      cd01784
      Location:177 → 263
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:277 → 316
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      4780023..4823608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028153.2 → XP_016883642.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Conserved Domains (2) summary
      cd01784
      Location:177 → 263
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:277 → 316
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    2. XM_017028149.2 → XP_016883638.1  ras association domain-containing protein 2 isoform X1

      Conserved Domains (2) summary
      cd01784
      Location:179 → 265
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:279 → 318
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    3. XM_011529410.2 → XP_011527712.1  ras association domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011527712.1

      Conserved Domains (2) summary
      cd01784
      Location:179 → 265
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:279 → 318
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    4. XM_017028151.2 → XP_016883640.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Conserved Domains (2) summary
      cd01784
      Location:177 → 263
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:277 → 316
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    5. XM_047440619.1 → XP_047296575.1  ras association domain-containing protein 2 isoform X1

    6. XM_017028150.2 → XP_016883639.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Conserved Domains (2) summary
      cd01784
      Location:177 → 263
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:277 → 316
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    7. XM_047440618.1 → XP_047296574.1  ras association domain-containing protein 2 isoform X1

    8. XM_005260895.4 → XP_005260952.1  ras association domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005260952.1

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Conserved Domains (2) summary
      cd01784
      Location:177 → 263
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:277 → 316
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    9. XM_011529411.2 → XP_011527713.1  ras association domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011527713.1

      Conserved Domains (2) summary
      cd01784
      Location:179 → 265
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:279 → 318
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    10. XM_047440621.1 → XP_047296577.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    11. XM_017028152.2 → XP_016883641.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Conserved Domains (2) summary
      cd01784
      Location:177 → 263
      rasfadin_RA; Ubiquitin-like domain of Rasfadin
      pfam16517
      Location:277 → 316
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    12. XM_047440622.1 → XP_047296578.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    13. XM_047440620.1 → XP_047296576.1  ras association domain-containing protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      4819268..4863842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324283.1 → XP_054180258.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    2. XM_054324289.1 → XP_054180264.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    3. XM_054324281.1 → XP_054180256.1  ras association domain-containing protein 2 isoform X1

    4. XM_054324278.1 → XP_054180253.1  ras association domain-containing protein 2 isoform X1

    5. XM_054324285.1 → XP_054180260.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    6. XM_054324282.1 → XP_054180257.1  ras association domain-containing protein 2 isoform X1

    7. XM_054324284.1 → XP_054180259.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    8. XM_054324280.1 → XP_054180255.1  ras association domain-containing protein 2 isoform X1

    9. XM_054324279.1 → XP_054180254.1  ras association domain-containing protein 2 isoform X1

    10. XM_054324286.1 → XP_054180261.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    11. XM_054324287.1 → XP_054180262.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    12. XM_054324288.1 → XP_054180263.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_170773.1: Suppressed sequence

      Description
      NM_170773.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50749.1 GenPept UniProtKB/Swiss-Prot:P50749

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