GFRA4 - GDNF family receptor alpha 4 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64096

About GFRA4

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,659,248-3,663,399 (from NCBI)

This gene has 3 transcripts (splice variants), 260 orthologues and 4 paralogues. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a member of the GDNF Receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GFRA4 Products (2)

mRNA Protein Name
NM_022139.4 NP_071422.1 GDNF family receptor alpha-4 isoform a precursor
NM_145762.3 NP_665705.1 GDNF family receptor alpha-4 isoform b precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables glial cell-derived neurotrophic factor receptor activity IDA
IDA: Inferred from direct assay
11116144 GOA
Biological Process GO Annotation Evidence References Source
involved in glial cell-derived neurotrophic factor receptor signaling pathway IDA
IDA: Inferred from direct assay
11116144 GOA
Cellular Component GO Annotation Evidence References Source
is active in plasma membrane IDA
IDA: Inferred from direct assay
11116144 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

GFRA4 Protein Structure

GDNF

GDNF: GDNF/GAS1 domain (26 - 105)

GDNF

GDNF: GDNF/GAS1 domain (117 - 241)

  • 0
  • 100
  • 200
  • 299 a.a.
Protein Preferred Names Protein Names

GDNF family receptor alpha-4

  • GDNF receptor alpha-4

Related Diseases

Diseases Alias
Multiple Endocrine Neoplasia

  • Men

  • Multiple Endocrine Adenomatosis

  • Multiple Endocrine Neoplasia Syndrome

  • Adenomatosis, Familial Endocrine

  • Endocrine Neoplasia, Multiple

  • Familial Endocrine Adenomatosis

  • Mea

  • Multiple Endocrine Neoplasms

  • Multiple Endocrine Neoplasia Type 1
Spinocerebellar Ataxia 23

  • Spinocerebellar Ataxia Type 23

  • SCA23

  • Ataxia, Spinocerebellar, Type 23
Megacolon

  • Dilatation Of Colon
Hirschsprung Disease 1

  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05389 GFRA4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
Inhibitory Antibodies (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-P992009 Anti-GFRA4 Antibody Inhibitor / Unkown
HY-P992232 Anti-GFRA4 Antibody (scFv) Inhibitor / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GFRA4 RGD RGD:620503
Canis familiaris GFRA4 VGNC VGNC:49680
Mus musculus GFRA4 MGD MGI:1341873
Felis catus GFRA4 VGNC VGNC:109566
Macaca mulatta GFRA4 VGNC VGNC:84886
Bos taurus GFRA4 VGNC VGNC:56187
Others GFRA4 NCBI