Gene Gene information from NCBI Gene database.
Entrez ID 2671
Gene name Growth factor, augmenter of liver regeneration
Gene symbol GFER
Synonyms (NCBI Gene)
ALRERV1HERV1HPOHPO1HPO2HSSMMCHDMPMCD
Chromosome 16
Chromosome location 16p13.3
Summary The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (H
miRNA miRNA information provided by mirtarbase database.
151
miRTarBase ID miRNA Experiments Reference
MIRT040937 hsa-miR-18a-3p CLASH 23622248
MIRT037615 hsa-miR-744-5p CLASH 23622248
MIRT495336 hsa-miR-4511 PAR-CLIP 23708386
MIRT495335 hsa-miR-331-3p PAR-CLIP 23708386
MIRT495334 hsa-miR-4258 PAR-CLIP 23708386
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
CEBPB Repression 20690902
CEBPB Unknown 20382118
FOXA2 Unknown 20382118
HNF4A Repression 18513187
SP1 Activation 18513187
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0001889 Process Liver development IBA
GO:0005515 Function Protein binding IPI 12681488, 23676665, 25416956, 32353859, 33060197, 36217030
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600924 4236 ENSG00000127554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55789
Protein name FAD-linked sulfhydryl oxidase ALR (EC 1.8.3.2) (Augmenter of liver regeneration) (hERV1) (Hepatopoietin)
Protein function [Isoform 1]: FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of
PDB 3MBG , 3O55 , 3TK0 , 3U2L , 3U2M , 3U5S , 4LDK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04777 Evr1_Alr 104 196 Erv1 / Alr family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. {ECO:0000269|PubMed:19409522}.
Sequence
MAAPGERGRFHGGNLFFLPGGARSEMMDDLATDARGRGAGRRDAAASASTPAQAPTSDSP
VAEDASRRRPCRACVDFKTWMRTQQKRDTKFREDCPPDREELGRHSWAVLHTLAAYYPDL
PTPEQQQDMAQFIHLFSKFYPCEECAEDLRKRLCRNHPDTRTRACFTQWLCHLHNEVNRK
LGKPDFDCSKVDERWR
DGWKDGSCD
Sequence length 205
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Pathogenic; Likely pathogenic rs1363034255, rs121908192, rs373135339, rs1555486560, rs1597063051, rs1597063303 RCV001542783
RCV000009228
RCV003479177
RCV000679993
RCV000824904
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONGENITAL CATARACT, PROGRESSIVE MUSCULAR HYPOTONIA, HEARING LOSS, DEVELOPMENTAL DELAY SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GFER-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 20030531
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29048676
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29511434
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 30764825
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32779864 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 30031384
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 29261731
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29739755
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 3515562
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29739755
★☆☆☆☆
Found in Text Mining only