FAM53B - family with sequence similarity 53 member B Gene

Homo sapiens

Also known as smp; KIAA0140; bA12J10.2

Gene ID: 9679 | Gene type: protein coding

About FAM53B

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:124,619,292-124,744,378 (from NCBI)

This gene has 3 transcripts (splice variants), 256 orthologues and 2 paralogues. Ubiquitous expression in lymph node (RPKM 17.7), spleen (RPKM 12.7) and 23 other tissues.

Summary

Involved in positive regulation of canonical Wnt signaling pathway. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

FAM53B Products(1)

mRNA	Protein	Name
NM_014661.4	NP_055476.3	protein FAM53B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15778465	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	25183871	GOA
involved in regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	25183871	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	25183871	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAM53B Protein Structure

FAM53

0
100
200
300
422 a.a.

Protein Preferred Names

Protein Names

protein FAM53B

protein simplet

Related Diseases

Diseases

Alias

Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Naga Deficiency Type 2
Schindler Disease, Type Ii	Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
Schindler Disease Type 2	Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset	Naga Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset	KANZD
Naga Deficiency Type Ii	Schindler Disease Type Ii

Intestinal Schistosomiasis

Schistosomiasis Japonica	Schistosomiasis Mansoni
Katayama Fever	Schistosoma Japonicum Infection
Schistosoma Mansoni Infectious Disease	Schistosomiasis

Parasitic Helminthiasis Infectious Disease

Helminthiasis	Intestinal Helminthiasis
Helminth Infection	Helminthosis
Worm Infection	Worm Infections
Helminth Infections	Intestinal Infection Due To Class Cestoda And/Or Class Trematoda And/Or Phylum Nemata
Parasitic Enteritis	Metazoal Dysentery
Intestinal Worms Nos

Cocaine Dependence

Urinary Schistosomiasis

Schistosoma Haematobium Infection	Schistosoma Hematobium Infection
Schistosomiasis Due To Schistosoma Haematobium	Bladder Schistosomiasis
Cystitis With Bilharziasis	Schistosoma Haematobium
Schistosoma Hematobium Infectious Disease	Schistosomiasis Of Bladder
Vesical Schistosomiasis	Schistosomiasis Urinary
Schistosomiasis Haematobia	Genitourinary Bilharziasis
Genitourinary Tract Schistosomiasis	Schistosomiasis Due To Schistosoma Haematobium [Urinary Schistosomiasis]
Haematochyluria In Schistosomiasis	Infection Due To Schistosoma Matthei

Spinal Muscular Atrophy, Type Iv

SMA4	Spinal Muscular Atrophy, Adult Form
Spinal Muscular Atrophy 4	Spinal Muscular Atrophy-4
Adult Spinal Muscular Atrophy	Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
Proximal Spinal Muscular Atrophy Type 4	Sma Type 4
Sma Type Iv	Sma-Iv
Sma Iv	Spinal Muscular Atrophy Adult Form
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive	Spinal Muscular Atrophy Type Iv
Atrophy, Muscular, Spinal, Type Iv	Myelopathic Muscular Atrophy

Spinal Muscular Atrophy, Type Ii

SMA2	Sma Ii
Muscular Atrophy, Spinal, Intermediate Type	Muscular Atrophy, Spinal, Infantile Chronic Form
Intermediate Spinal Muscular Atrophy	Spinal Muscular Atrophy Type Ii
Spinal Muscular Atrophy-2	Spinal Muscular Atrophy 2
Spinal Muscular Atrophy Type 2	Dubowitz Disease
Proximal Spinal Muscular Atrophy Type 2	Sma Type 2
Sma Type Ii	Sma-Ii
Spinal Muscular Atrophy Infantile Chronic Form	Spinal Muscular Atrophy Intermediate Type
Spinal Muscular Atrophies Of Childhood	Atrophy, Muscular, Spinal, Type Ii
Muscular Atrophy, Spinal, Type Ii

Frontometaphyseal Dysplasia

Fmd	Dysplasia, Frontometaphyseal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04717	FAM53B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FAM53B	VGNC	VGNC:72397
Mus musculus	FAM53B	MGD	MGI:1925188
Bos taurus	FAM53B	VGNC	VGNC:55949
Felis catus	FAM53B	VGNC	VGNC:62117
Rattus norvegicus	FAM53B	RGD	RGD:1310799
Canis familiaris	FAM53B	VGNC	VGNC:40688

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