FAM53B - family with sequence similarity 53 member B Gene

Also Known as smp; KIAA0140; bA12J10.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9679

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

FAM53: Family of FAM53 (1 - 302)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 422 a.a.
Protein Preferred Names Protein Names

protein FAM53B

  • protein simplet

FAM53B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FAM53B Q14153 YWHAZ Homo sapiens P63104 33961781
Intra
FAM53B Q14153 SFN Homo sapiens P31947
TAP
15778465
Intra
FAM53B Q14153 SFN Homo sapiens P31947 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others FAM53B NCBI