FAM53B family with sequence similarity 53 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM53Bprovided by HGNC
Official Full Name: family with sequence similarity 53 member Bprovided by HGNC
Primary source: HGNC:HGNC:28968
See related: Ensembl:ENSG00000189319 MIM:617289; AllianceGenome:HGNC:28968
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: smp; KIAA0140; bA12J10.2
Summary: Involved in positive regulation of canonical Wnt signaling pathway. Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in lymph node (RPKM 17.7), spleen (RPKM 12.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (124619292..124744378, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (125500348..125625386, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (126307861..126432947, complement)

Chromosome 10 - NC_000010.11 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?

The circ_FAM53B-miR-183-5p-CCDC6 axis modulates the malignant behaviors of papillary thyroid carcinoma cells.
Title: The circ_FAM53B-miR-183-5p-CCDC6 axis modulates the malignant behaviors of papillary thyroid carcinoma cells.
First study to identify risk variants for cocaine dependence using GWAS; rs2629540 at the FAM53B identified as a risk factor in African- and European-Americans
Title: Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.
Strong candidate gene for age-related macular degeneration, ARMS2, (human 10q26.13). Conclusion is based on a massive expression data set for mouse (103 strains) and joint analysis of RetNet database.
Title: Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.

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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

EBI GWAS Catalog

Description
Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH25363 (e-PCR)
- UniSTS:90382

RH44867 (e-PCR)
- UniSTS:25384

RH44640 (e-PCR)
- UniSTS:75600

RH8129 (e-PCR)
- UniSTS:89736

RH103662 (e-PCR)
- UniSTS:97987

STS-AA007633 (e-PCR)
- UniSTS:30462

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 Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein FAM53B

Names: protein simplet; simplet homolog

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.