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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
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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 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)

Genotypes

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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