U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    ASB18 ankyrin repeat and SOCS box containing 18 [ Homo sapiens (human) ]

    Gene ID: 401036, updated on 9-Dec-2024

    Summary

    Official Symbol
    ASB18provided by HGNC
    Official Full Name
    ankyrin repeat and SOCS box containing 18provided by HGNC
    Primary source
    HGNC:HGNC:19770
    See related
    Ensembl:ENSG00000182177 AllianceGenome:HGNC:19770
    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
    ASB-18
    Summary
    The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASB18 in Genome Data Viewer
    Location:
    2q37.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (236193459..236264406, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (236683187..236754065, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (237102102..237173049, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237069765-237070586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237070587-237071406 Neighboring gene VISTA enhancer hs249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237072227-237073046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237075208-237076160 Neighboring gene uncharacterized LOC124906126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237081261-237082048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237082049-237082834 Neighboring gene Sharpr-MPRA regulatory region 4909 Neighboring gene Sharpr-MPRA regulatory region 229 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237087965-237088482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237088483-237088998 Neighboring gene GBX2 and ASB18 antisense RNA 1 Neighboring gene gastrulation brain homeobox 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:237116979-237117150 Neighboring gene uncharacterized LOC124908000 Neighboring gene RNA, U1 small nuclear 31, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237147150-237147780 Neighboring gene uncharacterized LOC105373945 Neighboring gene IQ motif containing with AAA domain 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237250178-237251092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237251093-237252007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237260323-237260824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237260825-237261324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237264389-237264974 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:237300037-237301236 Neighboring gene IQCA1 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp313I1130

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat and SOCS box protein 18

    NCBI Reference Sequences (RefSeq)

    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_053045.1 RefSeqGene

      Range
      4940..75887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_212556.4NP_997721.2  ankyrin repeat and SOCS box protein 18

      See identical proteins and their annotated locations for NP_997721.2

      Status: REVIEWED

      Source sequence(s)
      AC019068, AC079135
      Consensus CDS
      CCDS46548.1
      UniProtKB/Swiss-Prot
      B6ZDL7, Q6ZVZ8
      Related
      ENSP00000386532.3, ENST00000409749.8
      Conserved Domains (4) summary
      cd00204
      Location:122237
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd03723
      Location:420466
      SOCS_ASB4_ASB18; SOCS (suppressors of cytokine signaling) box of ASB4 and ASB18 proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Asb4 was identified as imprinted gene in mice. The general function of the SOCS box is the ...
      pfam12796
      Location:124214
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:122149
      ANK; ANK repeat [structural motif]

    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
      236193459..236264406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      236683187..236754065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)