SUSD6 sushi domain containing 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SUSD6provided by HGNC
Official Full Name: sushi domain containing 6provided by HGNC
Primary source: HGNC:HGNC:19956
See related: Ensembl:ENSG00000100647 MIM:616761; AllianceGenome:HGNC:19956
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: DRAGO; KIAA0247
Summary: Involved in DNA damage response. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 26.4), appendix (RPKM 20.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (69611596..69715144)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (63819270..63922809)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (70078313..70181861)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KIAA0247 is a candidate prognostic biomarker and potential therapeutic target in NSCLC.
Title: KIAA0247 inhibits growth, migration, invasion of non-small-cell lung cancer through regulating the Notch pathway.
overexpression of KIAA0247 is able to inhibit phosphorylation of AKT and Stat3 in glioma cells, resulting in inactivation of the AKT and Stat3 signaling pathways, this ultimately decreases the expression of PCNA, CyclinD1, Bcl2 and VEGF.
Title: KIAA0247 suppresses the proliferation, angiogenesis and promote apoptosis of human glioma through inactivation of the AKT and Stat3 signaling pathway.
DRAGO (drug-activated gene overexpressed) KIAA0247 represents a new p53-dependent gene highly regulated in human cells and whose expression cooperates with p53 in tumor suppressor functions.
Title: DRAGO (KIAA0247), a new DNA damage-responsive, p53-inducible gene that cooperates with p53 as oncosuppressor. [Corrected].
This is the first description of a linkage between KIAA0247 and colorectal cancer.
Title: A predicted protein, KIAA0247, is a cell cycle modulator in colorectal cancer cells under 5-FU treatment.
gene silencing in umbilical vein endothelial cells causes decrease in monocyte chemoattractant protein-1 production during endotoxemia
Title: Characterization of SVEP1, KIAA, and SRPX2 in an in vitro cell culture model of endotoxemia.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35543 (e-PCR)
- UniSTS:79879

SHGC-33845 (e-PCR)
- UniSTS:73249

G36301 (e-PCR)
- UniSTS:51756

D14S877 (e-PCR)
- UniSTS:9076

G35921 (e-PCR)
- UniSTS:55756

G35551 (e-PCR)
- UniSTS:56028

G35528 (e-PCR)
- UniSTS:14568

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sushi domain-containing protein 6

Names: drug-activated gene overexpressed protein

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)

NM_014734.4 → NP_055549.1 sushi domain-containing protein 6 precursor

See identical proteins and their annotated locations for NP_055549.1

Status: VALIDATED

Source sequence(s)

AL355837, D87434, DC346928

Consensus CDS

CCDS9796.1

UniProtKB/Swiss-Prot

Q92537

Related

ENSP00000344424.4, ENST00000342745.5

Conserved Domains (1) summary

cd00033
Location:42 → 103

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system