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    SUSD2 sushi domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 56241, updated on 17-Jun-2024

    Summary

    Official Symbol
    SUSD2provided by HGNC
    Official Full Name
    sushi domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:30667
    See related
    Ensembl:ENSG00000099994 MIM:615825; AllianceGenome:HGNC:30667
    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
    W5C5; BK65A6.2
    Summary
    Involved in negative regulation of cell cycle G1/S phase transition and negative regulation of cell division. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung (RPKM 80.9), kidney (RPKM 36.6) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SUSD2 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24181487..24189106)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24643101..24650720)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24577455..24585074)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372959 Neighboring gene calcineurin binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24487229-24487730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24487731-24488230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24527017-24527518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24540118-24540852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24540853-24541588 Neighboring gene Sharpr-MPRA regulatory region 1007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18761 Neighboring gene skeletal muscle cis-regulatory module in CABIN1 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24571075-24571934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24585541-24586182 Neighboring gene MPRA-validated peak4472 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24601258-24602226 Neighboring gene uncharacterized LOC124905090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24609597-24610123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24639831-24640386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24640387-24640942 Neighboring gene gamma-glutamyltransferase 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    sushi domain-containing protein 2
    Names
    Sushi domain (SCR repeat) containing
    testicular tissue protein Li 190

    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.

    mRNA and Protein(s)

    1. NM_019601.4NP_062547.1  sushi domain-containing protein 2 precursor

      See identical proteins and their annotated locations for NP_062547.1

      Status: VALIDATED

      Source sequence(s)
      BC033107, BI822588
      Consensus CDS
      CCDS13824.1
      UniProtKB/Swiss-Prot
      Q9H5Y6, Q9UGT4
      UniProtKB/TrEMBL
      A0A140VJW3
      Related
      ENSP00000351075.3, ENST00000358321.4
      Conserved Domains (5) summary
      cd00033
      Location:725779
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam01033
      Location:2964
      Somatomedin_B; Somatomedin B domain
      pfam03782
      Location:289430
      AMOP; AMOP domain
      pfam10342
      Location:180256
      GPI-anchored; Ser-Thr-rich glycosyl-phosphatidyl-inositol-anchored membrane family
      cl02516
      Location:448613
      VWD; von Willebrand factor type D 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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24181487..24189106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24643101..24650720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)