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    CSMD2 CUB and Sushi multiple domains 2 [ Homo sapiens (human) ]

    Gene ID: 114784, updated on 3-Apr-2018

    Summary

    Official Symbol
    CSMD2provided by HGNC
    Official Full Name
    CUB and Sushi multiple domains 2provided by HGNC
    Primary source
    HGNC:HGNC:19290
    See related
    Ensembl:ENSG00000121904 MIM:608398; Vega:OTTHUMG00000011135
    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
    dJ947L8.1; dJ1007G16.1; dJ1007G16.2
    Summary
    The protein encoded by this gene is thought to be involved in the control of complement. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Mar 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See CSMD2 in Genome Data Viewer
    Location:
    1p35.1
    Exon count:
    74
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (33513999..34165842, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33979609..34631443, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene proteasome subunit alpha 3 pseudogene Neighboring gene zinc finger and SCAN domain containing 20 Neighboring gene uncharacterized LOC105378638 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 14 Neighboring gene CSMD2 antisense RNA 1 Neighboring gene high mobility group box 4 Neighboring gene RNA, 5S ribosomal pseudogene 42 Neighboring gene chromosome 1 open reading frame 94 Neighboring gene ferritin, heavy polypeptide 1 pseudogene

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    NHGRI GWA Catalog
    Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
    NHGRI GWA Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    NHGRI GWA Catalog
    Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
    NHGRI GWA Catalog
    Voxelwise genome-wide association study (vGWAS).
    NHGRI GWA Catalog

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1884

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    CUB and sushi domain-containing protein 2
    Names
    CUB and Sushi (SCR repeat) domain
    CUB and sushi multiple domains protein 2

    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_053181.1 RefSeqGene

      Range
      5569..656844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001281956.1NP_001268885.1  CUB and sushi domain-containing protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB212622, AC115285, AK095627, AY210418
      Consensus CDS
      CCDS60082.1
      UniProtKB/Swiss-Prot
      Q7Z408
      Related
      ENSP00000362479.4, ENST00000373381.8
      Conserved Domains (6) summary
      cd00033
      Location:561615
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:179236
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:618725
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00431
      Location:14851590
      CUB; CUB domain
      pfam00084
      Location:22922349
      Sushi; Sushi repeat (SCR repeat)
      cl27761
      Location:27923032
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    2. NM_052896.4NP_443128.2  CUB and sushi domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_443128.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1, including initiation of translation at an alternate start codon. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB212622, AC115285, AC115286, AK095627, AY210418
      Consensus CDS
      CCDS380.1
      UniProtKB/Swiss-Prot
      Q7Z408
      Related
      ENSP00000362486.3, ENST00000373388.6
      Conserved Domains (6) summary
      cd00033
      Location:26582711
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:139196
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:29473186
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:578685
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:22942351
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:14451550
      CUB; CUB domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      33513999..34165842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000188.1XP_016855677.1  CUB and sushi domain-containing protein 2 isoform X2

    2. XM_017000190.1XP_016855679.1  CUB and sushi domain-containing protein 2 isoform X3

    3. XM_017000185.1XP_016855674.1  CUB and sushi domain-containing protein 2 isoform X1

      Conserved Domains (6) summary
      cd00033
      Location:26562709
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:179236
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:27673007
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:618725
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:22922349
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:14851590
      CUB; CUB domain
    4. XM_024452878.1XP_024308646.1  CUB and sushi domain-containing protein 2 isoform X7

      Conserved Domains (6) summary
      cd00033
      Location:561615
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:179236
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:618725
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00431
      Location:14851590
      CUB; CUB domain
      pfam00084
      Location:22922349
      Sushi; Sushi repeat (SCR repeat)
      cl27761
      Location:27923032
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    5. XM_017000191.1XP_016855680.1  CUB and sushi domain-containing protein 2 isoform X4

    6. XM_017000193.1XP_016855682.1  CUB and sushi domain-containing protein 2 isoform X6

    7. XM_017000192.1XP_016855681.1  CUB and sushi domain-containing protein 2 isoform X5

    RNA

    1. XR_002959296.1 RNA Sequence

    2. XR_002959290.1 RNA Sequence

    3. XR_002959291.1 RNA Sequence

    4. XR_002959295.1 RNA Sequence

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