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    HYCC2 hyccin PI4KA lipid kinase complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 285172, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HYCC2provided by HGNC
    Official Full Name
    hyccin PI4KA lipid kinase complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:28593
    See related
    Ensembl:ENSG00000155744 AllianceGenome:HGNC:28593
    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
    FAM126B
    Summary
    Predicted to be involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.2), fat (RPKM 4.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HYCC2 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (200973718..201071671, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201457164..201555113, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201838441..201936394, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NGG1 interacting factor 3 like 1 Neighboring gene RNA, U6 small nuclear 762, pseudogene Neighboring gene origin recognition complex subunit 2 Neighboring gene OCT4 hESC enhancer GRCh37_chr2:201799831-201800332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16969 Neighboring gene uncharacterized LOC105373835 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:201828394-201828792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16970 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:201907391-201907902 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:201907903-201908415 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16971 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:201935997-201936622 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:201936623-201937246 Neighboring gene ribosomal protein L23a pseudogene 30 Neighboring gene RNA, U6 small nuclear 1206, pseudogene Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 Neighboring gene ribosomal protein L17 pseudogene 10

    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. Hyccin/FAM126A deficiency reduces glial enrichment and axonal sheath, which are rescued by overexpression of a plasma membrane-targeting PI4KIIIα in Drosophila. Zhang Q, et al. Biochem Biophys Res Commun, 2022 Jan 22. PMID 34894559
    2. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    3. Inflammation-dependent overexpression of c-Myc enhances CRL4(DCAF4) E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer. Liu H, et al. J Pathol, 2019 Aug. PMID 30945288
    4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    5. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Adhikari H, et al. Nat Commun, 2018 Sep 7. PMID 30194290, Free PMC Article

    See all (22) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10981, FLJ37917, FLJ42947, MGC39518

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    hyccin 2
    Names
    family with sequence similarity 126 member B
    protein FAM126B

    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_001321618.1 → NP_001308547.1  hyccin 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS2335.1
      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin; Hyccin

    2. NM_001321619.2 → NP_001308548.1  hyccin 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS2335.1
      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin; Hyccin

    3. NM_001321621.2 → NP_001308550.1  hyccin 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS2335.1
      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin; Hyccin

    4. NM_001321622.2 → NP_001308551.1  hyccin 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS2335.1
      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin; Hyccin

    5. NM_001321623.1 → NP_001308552.1  hyccin 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS92921.1
      UniProtKB/TrEMBL
      A0A804HIT6
      Related
      ENSP00000507218.1, ENST00000681958.1
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin

    6. NM_001321624.1 → NP_001308553.1  hyccin 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS92921.1
      UniProtKB/TrEMBL
      A0A804HIT6
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin

    7. NM_001321625.2 → NP_001308554.1  hyccin 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS92921.1
      UniProtKB/TrEMBL
      A0A804HIT6
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin

    8. NM_001321626.2 → NP_001308555.1  hyccin 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Consensus CDS
      CCDS92921.1
      UniProtKB/TrEMBL
      A0A804HIT6
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin

    9. NM_001321627.1 → NP_001308556.1  hyccin 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005037, AL832346, BC039295, DA848582
      UniProtKB/Swiss-Prot
      Q8IXS8
      Conserved Domains (1) summary
      pfam09790
      Location:2 → 248
      Hyccin; Hyccin

    10. NM_001321628.2 → NP_001308557.1  hyccin 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Conserved Domains (1) summary
      pfam09790
      Location:2 → 248
      Hyccin; Hyccin

    11. NM_001321629.1 → NP_001308558.1  hyccin 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007272
      Conserved Domains (1) summary
      pfam09790
      Location:2 → 248
      Hyccin; Hyccin

    12. NM_173822.5 → NP_776183.1  hyccin 2 isoform 1

      See identical proteins and their annotated locations for NP_776183.1

      Status: VALIDATED

      Source sequence(s)
      AC005037, AK097111, AK315104, BC039295, BC045174, DA848582
      Consensus CDS
      CCDS2335.1
      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8
      Related
      ENSP00000393667.2, ENST00000418596.7
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin; Hyccin

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      200973718..201071671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712443.4 → XP_006712506.1  hyccin 2 isoform X1

      See identical proteins and their annotated locations for XP_006712506.1

      UniProtKB/TrEMBL
      A0A804HIT6
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin

    2. XM_047444003.1 → XP_047299959.1  hyccin 2 isoform X2

      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8

    3. XM_047444002.1 → XP_047299958.1  hyccin 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HIT6

    4. XM_017003879.2 → XP_016859368.1  hyccin 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HIT6
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin

    5. XM_017003881.2 → XP_016859370.1  hyccin 2 isoform X2

      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin; Hyccin

    6. XM_047444004.1 → XP_047299960.1  hyccin 2 isoform X2

      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8

    7. XM_017003880.2 → XP_016859369.1  hyccin 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HIT6
      Conserved Domains (1) summary
      pfam09790
      Location:22 → 330
      Hyccin

    8. XM_047444005.1 → XP_047299961.1  hyccin 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      201457164..201555113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341514.1 → XP_054197489.1  hyccin 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HIT6

    2. XM_054341515.1 → XP_054197490.1  hyccin 2 isoform X2

      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8

    3. XM_054341512.1 → XP_054197487.1  hyccin 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HIT6

    4. XM_054341511.1 → XP_054197486.1  hyccin 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HIT6

    5. XM_054341517.1 → XP_054197492.1  hyccin 2 isoform X2

      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8

    6. XM_054341516.1 → XP_054197491.1  hyccin 2 isoform X2

      UniProtKB/Swiss-Prot
      B2RCG7, Q4ZG87, Q53TX6, Q8IXS8

    7. XM_054341513.1 → XP_054197488.1  hyccin 2 isoform X1

      UniProtKB/TrEMBL
      A0A804HIT6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXS8.1 GenPept UniProtKB/Swiss-Prot:Q8IXS8

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