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  2. GFRA4 - GDNF family receptor alpha 4 Gene

GFRA4 - GDNF family receptor alpha 4 Gene

Homo sapiens
Gene ID: 64096 | Gene type: protein coding

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

GFRA4 Protein Structure

GDNF

GDNF: GDNF/GAS1 domain (26 - 105)

GDNF

GDNF: GDNF/GAS1 domain (117 - 241)

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  • 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

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