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

Gene ID: 56241, updated on 13-Nov-2022

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
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Genomic context

See SUSD2 in Genome Data Viewer
Location:
22q11.23
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24181487..24189106)
110 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 calcineurin binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 1007 Neighboring gene skeletal muscle cis-regulatory module in CABIN1 intron Neighboring gene uncharacterized LOC124905090 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 gene information

Homology

Clone Names

  • FLJ22778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

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)

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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_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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)