1. Gene
  2. FAM3A - FAM3 metabolism regulating signaling molecule A Gene

FAM3A - FAM3 metabolism regulating signaling molecule A Gene

Homo sapiens

Also known as DLD; 2.19; XAP-7; DXS560S

Gene ID: 60343 | Gene type: protein coding

About FAM3A

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,506,171-154,516,232 (from NCBI)

This gene has 22 transcripts (splice variants), 185 orthologues and 3 paralogues. Ubiquitous expression in small intestine (RPKM 12.0), fat (RPKM 11.4) and 25 other tissues.

Summary

This gene encodes a cytokine-like protein. The expression of this gene may be regulated by Peroxisome Proliferator-activated Receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

FAM3A Products(7)

mRNA Protein Name
NM_001171132.3 NP_001164603.1 protein FAM3A isoform 1 precursor
NM_001171133.3 NP_001164604.1 protein FAM3A isoform 2
NM_001171134.3 NP_001164605.1 protein FAM3A isoform 3
NM_001282311.2 NP_001269240.1 protein FAM3A isoform 4
NM_001282312.2 NP_001269241.1 protein FAM3A isoform 1 precursor
NM_001363822.2 NP_001350751.1 protein FAM3A isoform 5
NM_021806.4 NP_068578.2 protein FAM3A isoform 1 precursor
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
involved in antifungal humoral response IDA
IDA: Inferred from direct assay
18212107 GOA
involved in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
IDA: Inferred from direct assay
18212107 GOA
involved in negative regulation of antifungal innate immune response IDA
IDA: Inferred from direct assay
18212107 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
Protein Preferred Names Protein Names

protein FAM3A

cytokine-like protein 2-19

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 17

DFNB17

Autosomal Recessive Nonsyndromic Deafness 17

Autosomal Recessive Deafness 17

Ritscher-Schinzel Syndrome 2

RTSC2

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
Rattus norvegicus FAM3A RGD RGD:1562076
Mus musculus FAM3A MGD MGI:1913544
Macaca mulatta FAM3A VGNC VGNC:72270
Bos taurus FAM3A VGNC VGNC:28809
Canis familiaris FAM3A VGNC VGNC:54141