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

Gene ID: 401036, updated on 1-Jun-2020

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
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

Genomic context

See ASB18 in Genome Data Viewer
Location:
2q37.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (236193452..236264345, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (237103515..237172988, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene VISTA enhancer hs249 Neighboring gene gastrulation brain homeobox 2 Neighboring gene RNA, U1 small nuclear 31, pseudogene Neighboring gene uncharacterized LOC105373945 Neighboring gene IQ motif containing with AAA domain 1 Neighboring gene ribosomal protein L3 pseudogene 5

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp313I1130

Gene Ontology Provided by GOA

Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ankyrin repeat and SOCS box protein 18

NCBI Reference Sequences (RefSeq)

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
    5001..75894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_212556.3NP_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
    Q6ZVZ8
    Related
    ENSP00000386532.3, ENST00000409749.7
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    236193452..236264345 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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