SAPCD2 suppressor APC domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAPCD2provided by HGNC
Official Full Name: suppressor APC domain containing 2provided by HGNC
Primary source: HGNC:HGNC:28055
See related: Ensembl:ENSG00000186193 MIM:612057; AllianceGenome:HGNC:28055
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: p42.3; C9orf140
Summary: Involved in negative regulation of protein localization to cell cortex and positive regulation of cell population proliferation. Located in several cellular components, including apical cortex; apical junction complex; and nuclear lumen. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in brain (RPKM 4.5), colon (RPKM 2.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137062127..137070557, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149298084..149306470, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139956579..139965009, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homologous proteins SAPCD2X1 and SAPCD2 have significantly different carcinogenic capacities in human colorectal cancer cells based on structural prediction and functional verification.
Title: Homologous proteins SAPCD2X1 and SAPCD2 have significantly different carcinogenic capacities in human colorectal cancer cells based on structural prediction and functional verification.
MiR-486-5p specifically suppresses SAPCD2 expression, which attenuates the aggressive phenotypes of lung adenocarcinoma cells.
Title: MiR-486-5p specifically suppresses SAPCD2 expression, which attenuates the aggressive phenotypes of lung adenocarcinoma cells.
SAPCD2 promotes neuroblastoma progression by altering the subcellular distribution of E2F7.
Title: SAPCD2 promotes neuroblastoma progression by altering the subcellular distribution of E2F7.
YY1-inudced activation of lncRNA DUXAP8 promotes proliferation and suppresses apoptosis of triple negative breast cancer cells through upregulating SAPCD2.
Title: YY1-inudced activation of lncRNA DUXAP8 promotes proliferation and suppresses apoptosis of triple negative breast cancer cells through upregulating SAPCD2.
SAPCD2 promotes invasiveness and migration ability of breast cancer cells via YAP/TAZ.
Title: SAPCD2 promotes invasiveness and migration ability of breast cancer cells via YAP/TAZ.
SAPCD2 is increased and positively associated with that of PXN-AS1-L isoform in nasopharyngeal carcinoma (NPC). Gain and loss-of-function experiments demonstrated that SAPCD2 promotes NPC cell proliferation, migration, and invasion. Furthermore, depletion of SAPCD2 significantly reverses the roles of PXN-AS1-L in promoting NPC cell proliferation, migration, and invasion in vitro, and NPC tumor growth in vivo.
Title: Long noncoding RNA PXN-AS1-L promotes the malignancy of nasopharyngeal carcinoma cells via upregulation of SAPCD2.
Study showed C9orf140 as a novel Axin1-interacting protein and a negative regulator of Wnt/beta-catenin signaling. It functions upstream of beta-catenin, outcompetes PP2A for binding to Axin1, influences the balance between phosphorylation and de-phosphorylation of beta-catenin compromising Wnt3A-induced beta-catenin accumulation. C9orf140 seems to mediate a negative feedback loop of Wnt/beta-catenin signaling by bindi...
Title: C9orf140, a novel Axin1-interacting protein, mediates the negative feedback loop of Wnt/β-catenin signaling.
Data show that overexpressed p42.3 protein is correlated with gastric cancer cell proliferation, migration, and invasion, suggesting its use as a biological marker in gastric cancer.
Title: Overexpression of p42.3 promotes cell proliferation, migration, and invasion in human gastric cancer cells.
p42.3 protein was related to the occurrence and development of gastric carcinoma.
Title: Application of intelligent algorithm in the optimization of novel protein regulatory pathway: Mechanism of action of gastric carcinoma protein p42.3.
p42.3 gene expression is associated with gastric mucosal inflammation that can be upregulated by TNF-alpha and H. pylori infection.
Title: Positive relationship between p42.3 gene and inflammation in chronic non-atrophic gastritis.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

STS-R54078 (e-PCR)
- UniSTS:38978

WI-20997 (e-PCR)
- UniSTS:7335

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 establishment of mitotic spindle orientation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein localization to cell cortex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of establishment of planar polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in symmetric cell division	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical cortex	IDA Inferred from Direct Assay more info	PubMed
located_in apical junction complex	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: suppressor APC domain-containing protein 2

Names: 2010317E24Rik; TS/MDEP; protein C9orf140; tumor specificity and mitosis phase-dependent expression 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_178448.4 → NP_848543.2 suppressor APC domain-containing protein 2

See identical proteins and their annotated locations for NP_848543.2

Status: VALIDATED

Source sequence(s)

BC042162, BC048267, BX332104

Consensus CDS

CCDS7027.2

UniProtKB/Swiss-Prot

Q86UD0

Related

ENSP00000386348.3, ENST00000409687.5

Conserved Domains (1) summary

pfam11414
Location:225 → 306

Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

137062127..137070557 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519180.4 → XP_011517482.1 suppressor APC domain-containing protein 2 isoform X1

Conserved Domains (1) summary

pfam11414
Location:255 → 336

Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein