AFM (afamin) - Rat Genome Database

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Gene: AFM (afamin) Homo sapiens
Analyze
Symbol: AFM
Name: afamin
RGD ID: 1352528
HGNC Page HGNC
Description: Enables vitamin E binding activity. Involved in protein stabilization; protein transport within extracellular region; and vitamin transport. Located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALB2; ALBA; ALF; alpha-Alb; alpha-albumin; MGC125338; MGC125339
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl473,481,745 - 73,504,001 (+)EnsemblGRCh38hg38GRCh38
GRCh38473,481,745 - 73,504,001 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37474,347,462 - 74,369,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36474,566,326 - 74,588,582 (+)NCBINCBI36hg18NCBI36
Build 34474,712,496 - 74,734,753NCBI
Celera471,707,194 - 71,729,436 (+)NCBI
Cytogenetic Map4q13.3NCBI
HuRef470,158,855 - 70,181,099 (+)NCBIHuRef
CHM1_1474,383,462 - 74,405,708 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:37276   PMID:4041902   PMID:7035619   PMID:7517938   PMID:7875606   PMID:8648639   PMID:8755513   PMID:10400926   PMID:12063119   PMID:12463752   PMID:12477932   PMID:14760718  
PMID:15489334   PMID:15952736   PMID:16199891   PMID:16335952   PMID:16502470   PMID:16740002   PMID:18976975   PMID:19046407   PMID:19336561   PMID:20858448   PMID:21873635   PMID:22516433  
PMID:23376485   PMID:23533145   PMID:23535732   PMID:24768783   PMID:25208973   PMID:26902720   PMID:27329154   PMID:27432908   PMID:28514442   PMID:29153507   PMID:29405972   PMID:30220025  
PMID:30247793   PMID:30260179   PMID:30561431   PMID:31391242  


Genomics

Comparative Map Data
AFM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl473,481,745 - 73,504,001 (+)EnsemblGRCh38hg38GRCh38
GRCh38473,481,745 - 73,504,001 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37474,347,462 - 74,369,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36474,566,326 - 74,588,582 (+)NCBINCBI36hg18NCBI36
Build 34474,712,496 - 74,734,753NCBI
Celera471,707,194 - 71,729,436 (+)NCBI
Cytogenetic Map4q13.3NCBI
HuRef470,158,855 - 70,181,099 (+)NCBIHuRef
CHM1_1474,383,462 - 74,405,708 (+)NCBICHM1_1
Afm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39590,666,808 - 90,701,403 (+)NCBIGRCm39mm39
GRCm39 Ensembl590,666,791 - 90,701,402 (+)Ensembl
GRCm38590,518,949 - 90,553,544 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl590,518,932 - 90,553,543 (+)EnsemblGRCm38mm10GRCm38
MGSCv37590,947,975 - 90,982,570 (+)NCBIGRCm37mm9NCBIm37
MGSCv36591,594,163 - 91,641,425 (+)NCBImm8
Celera588,680,306 - 88,704,975 (+)NCBICelera
Cytogenetic Map5E1NCBI
Afm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21417,531,026 - 17,563,868 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1417,531,024 - 17,563,870 (-)Ensembl
Rnor_6.01419,078,678 - 19,132,212 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1419,078,680 - 19,132,208 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01419,035,336 - 19,039,510 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01418,988,809 - 19,008,149 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41419,049,664 - 19,082,977 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11419,049,663 - 19,082,977 (-)NCBI
Celera1416,899,392 - 16,930,240 (-)NCBICelera
Cytogenetic Map14p22NCBI
AFM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1456,523,712 - 56,545,919 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl456,519,389 - 56,545,974 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0450,691,556 - 50,714,140 (-)NCBIMhudiblu_PPA_v0panPan3
AFM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11362,212,230 - 62,235,136 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1362,053,814 - 62,294,709 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1361,881,887 - 61,904,769 (+)NCBI
ROS_Cfam_1.01363,021,767 - 63,044,655 (+)NCBI
UMICH_Zoey_3.11362,633,366 - 62,656,263 (+)NCBI
UNSW_CanFamBas_1.01362,126,432 - 62,149,372 (+)NCBI
UU_Cfam_GSD_1.01363,262,556 - 63,285,453 (+)NCBI
AFM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl869,706,890 - 69,728,267 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1869,706,823 - 69,728,269 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2873,806,942 - 73,828,360 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AFM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1721,950,222 - 21,972,612 (+)NCBI
ChlSab1.1 Ensembl721,950,705 - 21,972,739 (+)Ensembl
Vero_WHO_p1.0NW_023666084824,453 - 846,386 (-)NCBI
Afm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473533,945,107 - 34,015,900 (-)NCBI

Position Markers
D4S1517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,350,069 - 74,350,321UniSTSGRCh37
Build 36474,568,933 - 74,569,185RGDNCBI36
Celera471,709,801 - 71,710,047RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,161,462 - 70,161,710UniSTS
Marshfield Genetic Map482.09UniSTS
Marshfield Genetic Map482.09RGD
deCODE Assembly Map483.19UniSTS
RH94242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,369,435 - 74,369,606UniSTSGRCh37
Build 36474,588,299 - 74,588,470RGDNCBI36
Celera471,729,153 - 71,729,324RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,180,816 - 70,180,987UniSTS
GeneMap99-GB4 RH Map4425.53UniSTS
PMC310762P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,365,771 - 74,365,859UniSTSGRCh37
Build 36474,584,635 - 74,584,723RGDNCBI36
Celera471,725,488 - 71,725,576RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,177,151 - 70,177,239UniSTS
STS-L32140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,365,764 - 74,365,928UniSTSGRCh37
Build 36474,584,628 - 74,584,792RGDNCBI36
Celera471,725,481 - 71,725,645RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,177,144 - 70,177,308UniSTS
GeneMap99-GB4 RH Map4425.86UniSTS
SHGC-59867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,355,712 - 74,355,897UniSTSGRCh37
Build 36474,574,576 - 74,574,761RGDNCBI36
Celera471,715,438 - 71,715,618RGD
Cytogenetic Map4q13.3UniSTS
HuRef470,167,101 - 70,167,281UniSTS
GeneMap99-GB4 RH Map4424.58UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:193
Count of miRNA genes:184
Interacting mature miRNAs:188
Transcripts:ENST00000226355, ENST00000505794
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 4 4 4
Medium 2 1 405 405 2 405 85 2 1 2
Low 146 50 30 23 57 23 21 10 6 111 30 15 14 8
Below cutoff 679 775 405 59 498 16 1366 476 689 73 627 401 43 296 748 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000226355   ⟹   ENSP00000226355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl473,481,745 - 73,504,001 (+)Ensembl
RefSeq Acc Id: ENST00000505794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl473,495,115 - 73,497,749 (+)Ensembl
RefSeq Acc Id: NM_001133   ⟹   NP_001124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,481,745 - 73,504,001 (+)NCBI
GRCh37474,347,462 - 74,369,718 (+)ENTREZGENE
Build 36474,566,326 - 74,588,582 (+)NCBI Archive
HuRef470,158,855 - 70,181,099 (+)ENTREZGENE
CHM1_1474,383,462 - 74,405,708 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007842   ⟹   XP_016863331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,481,745 - 73,501,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007843   ⟹   XP_016863332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,481,745 - 73,499,244 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007844   ⟹   XP_016863333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,481,745 - 73,499,240 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001124   ⟸   NM_001133
- Peptide Label: precursor
- UniProtKB: P43652 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863331   ⟸   XM_017007842
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016863332   ⟸   XM_017007843
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016863333   ⟸   XM_017007844
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000226355   ⟸   ENST00000226355
Protein Domains
Albumin

Promoters
RGD ID:6867698
Promoter ID:EPDNEW_H7014
Type:multiple initiation site
Name:AFM_1
Description:afamin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,481,745 - 73,481,805EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21
pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22
pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23
pathogenic
NM_001133.2(AFM):c.493G>A (p.Glu165Lys) single nucleotide variant Malignant melanoma [RCV000066524] Chr4:73486977 [GRCh38]
Chr4:74352694 [GRCh37]
Chr4:74571558 [NCBI36]
Chr4:4q13.3
not provided
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3
likely pathogenic
GRCh38/hg38 4q13.3(chr4:71432026-73648490)x1 copy number loss See cases [RCV000137732] Chr4:71432026..73648490 [GRCh38]
Chr4:72297743..74514207 [GRCh37]
Chr4:72516607..74733071 [NCBI36]
Chr4:4q13.3
likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3 copy number gain not provided [RCV000682420] Chr4:73952783..75261407 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21
pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23
pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1
pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22
pathogenic
GRCh37/hg19 4q13.3(chr4:74304764-74357478)x1 copy number loss not provided [RCV001005559] Chr4:74304764..74357478 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.3(chr4:74275515-74688555)x3 copy number gain See cases [RCV001194536] Chr4:74275515..74688555 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Partial albinism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:316 AgrOrtholog
COSMIC AFM COSMIC
Ensembl Genes ENSG00000079557 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000226355 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000226355 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000079557 GTEx
HGNC ID HGNC:316 ENTREZGENE
Human Proteome Map AFM Human Proteome Map
InterPro ALB/AFP/VDB UniProtKB/Swiss-Prot
  Serum_albumin-like UniProtKB/Swiss-Prot
  Serum_albumin/AFP/Afamin UniProtKB/Swiss-Prot
  Serum_albumin_CS UniProtKB/Swiss-Prot
  Serum_albumin_N UniProtKB/Swiss-Prot
KEGG Report hsa:173 UniProtKB/Swiss-Prot
NCBI Gene 173 ENTREZGENE
OMIM 104145 OMIM
PANTHER PTHR11385 UniProtKB/Swiss-Prot
Pfam Serum_albumin UniProtKB/Swiss-Prot
PharmGKB PA24613 PharmGKB
PIRSF Serum_albumin_subgroup UniProtKB/Swiss-Prot
PRINTS AFETOPROTEIN UniProtKB/Swiss-Prot
  SERUMALBUMIN UniProtKB/Swiss-Prot
PROSITE ALBUMIN_1 UniProtKB/Swiss-Prot
  ALBUMIN_2 UniProtKB/Swiss-Prot
SMART ALBUMIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48552 UniProtKB/Swiss-Prot
UniProt AFAM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K3E1 UniProtKB/Swiss-Prot
  Q32MR3 UniProtKB/Swiss-Prot
  Q4W5C5 UniProtKB/Swiss-Prot