SCAND3 SCAN domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCAND3provided by HGNC
Official Full Name: SCAN domain containing 3provided by HGNC
Primary source: HGNC:HGNC:13851
See related: Ensembl:ENSG00000232040 MIM:615254; AllianceGenome:HGNC:13851
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: ZBED9; ZNF452; Buster4; FAM200D; ZFP38-L; ZNF305P2; dJ1186N24.3
Summary: Predicted to enable nucleic acid binding activity. Involved in positive regulation of cell cycle and positive regulation of epithelial cell proliferation. Located in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in testis (RPKM 5.0), thyroid (RPKM 0.8) and 7 other tissues See more
Orthologs: all
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Genomic context

Location:: 6p22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (28570535..28616202, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (28441914..28487574, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (28538312..28583979, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

The AGT epistasis pattern proposed a novel role for ZBED9 in regulating blood pressure: Tehran Cardiometabolic genetic study (TCGS).
Title: The AGT epistasis pattern proposed a novel role for ZBED9 in regulating blood pressure: Tehran Cardiometabolic genetic study (TCGS).
Genome-wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension.
Title: Genome-wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension.
the present study indicated that ZNF452 may be an upstream regulator of AKT-GSK3beta signaling pathway and facilitates proliferation and invasion of non-small cell lung cancer
Title: ZNF452 facilitates tumor proliferation and invasion via activating AKT-GSK3β signaling pathway and predicts poor prognosis of non-small cell lung cancer patients.

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Phenotypes

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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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Clone Names

FLJ31087, KIAA1925, MGC131782, MGC133310, MGC133311, DKFZp434N092

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA integration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: SCAN domain-containing protein 3

Names: transposon-derived Buster4 transposase-like protein; zinc finger BED domain-containing protein 9; zinc finger BED-type containing 9; zinc finger protein 305 pseudogene 2; zinc finger protein 452

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_001329616.2 → NP_001316545.1 SCAN domain-containing protein 3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL049543, AL121932, AY517631, DB636313

Consensus CDS

CCDS87376.1

UniProtKB/TrEMBL

A0A1U9X8V2, A0A1U9X8V6, A0A2R8Y5N3

Conserved Domains (4) summary

pfam05699
Location:1097 → 1144

Dimer_Tnp_hAT; hAT family C-terminal dimerization region

pfam10481
Location:274 → 416

CENP-F_N; Cenp-F N-terminal domain

pfam14291
Location:731 → 828

DUF4371; Domain of unknown function (DUF4371)

cl21549
Location:225 → 325

rve; Integrase core domain
NM_052923.2 → NP_443155.1 SCAN domain-containing protein 3 isoform 1

See identical proteins and their annotated locations for NP_443155.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL049543, AY517631

Consensus CDS

CCDS34355.1

UniProtKB/Swiss-Prot

Q2NKL9, Q5SRJ3, Q6R2W3, Q8TCN2, Q96MV9, Q96PW3

UniProtKB/TrEMBL

A0A1U9X8V2, A0A1U9X8V6, A0A1U9X8W9

Related

ENSP00000395259.2, ENST00000452236.3

Conserved Domains (2) summary

smart00431
Location:48 → 160

SCAN; leucine rich region

cl21549
Location:376 → 476

rve; Integrase core domain

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

28570535..28616202 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514287.3 → XP_011512589.1 SCAN domain-containing protein 3 isoform X2

See identical proteins and their annotated locations for XP_011512589.1

UniProtKB/TrEMBL

A0A1U9X8V2, A0A1U9X8V6, A0A2R8Y5N3

Related

ENSP00000494942.1, ENST00000646382.1

Conserved Domains (4) summary

pfam05699
Location:1097 → 1144

Dimer_Tnp_hAT; hAT family C-terminal dimerization region

pfam10481
Location:274 → 416

CENP-F_N; Cenp-F N-terminal domain

pfam14291
Location:731 → 828

DUF4371; Domain of unknown function (DUF4371)

cl21549
Location:225 → 325

rve; Integrase core domain
XM_047418158.1 → XP_047274114.1 SCAN domain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

Q2NKL9, Q5SRJ3, Q6R2W3, Q8TCN2, Q96MV9, Q96PW3

UniProtKB/TrEMBL

A0A1U9X8W9
XM_047418156.1 → XP_047274112.1 SCAN domain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

Q2NKL9, Q5SRJ3, Q6R2W3, Q8TCN2, Q96MV9, Q96PW3

UniProtKB/TrEMBL

A0A1U9X8W9
XM_047418157.1 → XP_047274113.1 SCAN domain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

Q2NKL9, Q5SRJ3, Q6R2W3, Q8TCN2, Q96MV9, Q96PW3

UniProtKB/TrEMBL

A0A1U9X8W9
XM_011514288.3 → XP_011512590.1 SCAN domain-containing protein 3 isoform X3

See identical proteins and their annotated locations for XP_011512590.1

UniProtKB/TrEMBL

A0A1U9X8V2, A0A1U9X8V6

Conserved Domains (4) summary

pfam05699
Location:1052 → 1099

Dimer_Tnp_hAT; hAT family C-terminal dimerization region

pfam10481
Location:229 → 371

CENP-F_N; Cenp-F N-terminal domain

pfam14291
Location:686 → 783

DUF4371; Domain of unknown function (DUF4371)

cl21549
Location:180 → 280

rve; Integrase core domain