FABP9 (fatty acid binding protein 9) - Rat Genome Database

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Gene: FABP9 (fatty acid binding protein 9) Homo sapiens
Analyze
Symbol: FABP9
Name: fatty acid binding protein 9
RGD ID: 1343200
HGNC Page HGNC:3563
Description: Predicted to enable long-chain fatty acid binding activity. Predicted to be involved in long-chain fatty acid transport. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus.
Type: protein-coding
RefSeq Status: INFERRED
Previously known as: fatty acid binding protein 9, testis; fatty acid-binding protein 9; lipid-binding protein; PERF; PERF15; T-FABP; testis lipid binding protein; testis lipid-binding protein; testis-type fatty acid-binding protein; TLBP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38881,458,253 - 81,461,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl881,458,253 - 81,461,579 (-)EnsemblGRCh38hg38GRCh38
GRCh37882,370,488 - 82,373,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36882,533,173 - 82,536,313 (-)NCBINCBI36Build 36hg18NCBI36
Celera878,375,577 - 78,378,717 (-)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef877,860,548 - 77,863,688 (-)NCBIHuRef
CHM1_1882,422,217 - 82,425,358 (-)NCBICHM1_1
T2T-CHM13v2.0881,889,851 - 81,893,177 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
acrosomal vesicle  (ISO)
cytoplasm  (IEA)
cytosol  (IBA,TAS)
nucleus  (IBA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. A novel testicular protein, with sequence similarities to a family of lipid binding proteins, is a major component of the rat sperm perinuclear theca. Oko R and Morales CR, Dev Biol 1994 Nov;166(1):235-45.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:18803274   PMID:18950845   PMID:21873635   PMID:27779102  


Genomics

Comparative Map Data
FABP9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38881,458,253 - 81,461,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl881,458,253 - 81,461,579 (-)EnsemblGRCh38hg38GRCh38
GRCh37882,370,488 - 82,373,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36882,533,173 - 82,536,313 (-)NCBINCBI36Build 36hg18NCBI36
Celera878,375,577 - 78,378,717 (-)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef877,860,548 - 77,863,688 (-)NCBIHuRef
CHM1_1882,422,217 - 82,425,358 (-)NCBICHM1_1
T2T-CHM13v2.0881,889,851 - 81,893,177 (-)NCBIT2T-CHM13v2.0
Fabp9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39310,258,683 - 10,262,343 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl310,258,681 - 10,262,343 (-)EnsemblGRCm39 Ensembl
GRCm38310,193,623 - 10,197,283 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl310,193,621 - 10,197,283 (-)EnsemblGRCm38mm10GRCm38
MGSCv37310,193,628 - 10,197,222 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36310,176,155 - 10,179,754 (-)NCBIMGSCv36mm8
Celera310,223,858 - 10,227,452 (-)NCBICelera
Cytogenetic Map3A1NCBI
cM Map32.55NCBI
Fabp9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8293,499,136 - 93,503,267 (+)NCBIGRCr8
mRatBN7.2291,591,842 - 91,595,873 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl291,592,298 - 91,595,873 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx298,082,581 - 98,086,160 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0296,203,572 - 96,207,151 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0291,260,418 - 91,263,997 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0293,803,503 - 93,807,069 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl293,803,449 - 93,807,069 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02113,558,540 - 113,562,106 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4293,547,248 - 93,550,822 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1293,492,209 - 93,495,784 (+)NCBI
Celera287,194,183 - 87,197,749 (+)NCBICelera
Cytogenetic Map2q23NCBI
Fabp9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955444150,997 - 153,846 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955444151,003 - 153,775 (+)NCBIChiLan1.0ChiLan1.0
FABP9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2797,196,104 - 97,199,562 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1872,823,930 - 72,827,388 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0877,981,007 - 77,984,333 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1879,604,583 - 79,607,728 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl879,604,583 - 79,607,728 (-)Ensemblpanpan1.1panPan2
FABP9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12928,635,950 - 28,639,534 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2928,636,082 - 28,639,469 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2928,915,352 - 28,918,937 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02928,767,365 - 28,770,950 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2928,767,425 - 28,770,911 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12928,837,543 - 28,841,128 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02928,851,175 - 28,854,760 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02929,208,019 - 29,211,604 (-)NCBIUU_Cfam_GSD_1.0
Fabp9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530350,543,834 - 50,547,328 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366562,734,302 - 2,737,850 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366562,733,877 - 2,737,842 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FABP9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1876,873,829 - 76,880,644 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl876,875,871 - 76,878,997 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603964,315,963 - 64,319,628 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fabp9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247449,965,031 - 9,967,106 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247449,965,031 - 9,967,106 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FABP9
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 copy number loss See cases [RCV000051117] Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13		 pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2		 pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3		 pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1		 pathogenic
NM_001080526.1(FABP9):c.12C>T (p.Pro4=) single nucleotide variant Malignant melanoma [RCV000068415] Chr8:81461512 [GRCh38]
Chr8:82373747 [GRCh37]
Chr8:82536302 [NCBI36]
Chr8:8q21.13		 not provided
NM_001080526.1(FABP9):c.11C>T (p.Pro4Leu) single nucleotide variant Malignant melanoma [RCV000068416] Chr8:81461513 [GRCh38]
Chr8:82373748 [GRCh37]
Chr8:82536303 [NCBI36]
Chr8:8q21.13		 not provided
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3 copy number gain See cases [RCV000137815] Chr8:81188681..82043830 [GRCh38]
Chr8:82100916..82956065 [GRCh37]
Chr8:82263471..83118620 [NCBI36]
Chr8:8q21.13		 likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.13(chr8:82083686-82962356)x3 copy number gain See cases [RCV000449050] Chr8:82083686..82962356 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.13(chr8:82349850-84358646)x1 copy number loss See cases [RCV000446913] Chr8:82349850..84358646 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.13(chr8:82307254-82407985)x1 copy number loss See cases [RCV000447446] Chr8:82307254..82407985 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1 copy number loss See cases [RCV000511429] Chr8:77751515..83516216 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.13(chr8:82307254-82408725)x1 copy number loss not provided [RCV000682925] Chr8:82307254..82408725 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001080526.2(FABP9):c.116C>T (p.Pro39Leu) single nucleotide variant not provided [RCV000967094] Chr8:81459295 [GRCh38]
Chr8:82371530 [GRCh37]
Chr8:8q21.13		 benign
NM_001080526.2(FABP9):c.5T>C (p.Val2Ala) single nucleotide variant not provided [RCV000962338] Chr8:81461519 [GRCh38]
Chr8:82373754 [GRCh37]
Chr8:8q21.13		 benign
GRCh37/hg19 8q21.13-21.2(chr8:82196649-85352499)x1 copy number loss not provided [RCV000847829] Chr8:82196649..85352499 [GRCh37]
Chr8:8q21.13-21.2		 uncertain significance
GRCh37/hg19 8q21.13(chr8:82276728-82641699)x1 copy number loss not provided [RCV000846938] Chr8:82276728..82641699 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.13(chr8:82307170-82408647)x1 copy number loss not provided [RCV000848004] Chr8:82307170..82408647 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3 copy number gain not provided [RCV002472757] Chr8:79876744..83112711 [GRCh37]
Chr8:8q21.12-21.13		 uncertain significance
GRCh37/hg19 8q21.13(chr8:81895303-82546283)x3 copy number gain not provided [RCV001259014] Chr8:81895303..82546283 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707) copy number loss not specified [RCV002053776] Chr8:77906471..88917707 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
GRCh37/hg19 8q21.13(chr8:82353502-82673333) copy number gain not specified [RCV002053781] Chr8:82353502..82673333 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.13(chr8:82307254-82407985) copy number loss not specified [RCV002053778] Chr8:82307254..82407985 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.13(chr8:82349850-84358646) copy number loss not specified [RCV002053779] Chr8:82349850..84358646 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.13(chr8:81991684-82523573)x3 copy number gain not provided [RCV001827962] Chr8:81991684..82523573 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.13-21.2(chr8:81829690-85173253)x3 copy number gain not provided [RCV001827963] Chr8:81829690..85173253 [GRCh37]
Chr8:8q21.13-21.2		 uncertain significance
GRCh38/hg38 8q21.13(chr8:81061071-81682394) copy number gain Diaphragmatic hernia [RCV001823082] Chr8:81061071..81682394 [GRCh38]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1 copy number loss Chromosome 8q21.11 deletion syndrome [RCV002279750] Chr8:75904944..87097083 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_001080526.2(FABP9):c.149T>C (p.Met50Thr) single nucleotide variant not specified [RCV004076245] Chr8:81459262 [GRCh38]
Chr8:82371497 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.269G>C (p.Gly90Ala) single nucleotide variant not specified [RCV004177716] Chr8:81458681 [GRCh38]
Chr8:82370916 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.23C>T (p.Thr8Ile) single nucleotide variant not specified [RCV004220917] Chr8:81461501 [GRCh38]
Chr8:82373736 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.150G>A (p.Met50Ile) single nucleotide variant not specified [RCV004126151] Chr8:81459261 [GRCh38]
Chr8:82371496 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.88G>A (p.Ala30Thr) single nucleotide variant not specified [RCV004124261] Chr8:81459323 [GRCh38]
Chr8:82371558 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.220A>G (p.Thr74Ala) single nucleotide variant not specified [RCV004282171] Chr8:81459191 [GRCh38]
Chr8:82371426 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.253A>G (p.Ile85Val) single nucleotide variant not specified [RCV004347637] Chr8:81458697 [GRCh38]
Chr8:82370932 [GRCh37]
Chr8:8q21.13		 likely benign
NM_001080526.2(FABP9):c.137A>G (p.Asp46Gly) single nucleotide variant not specified [RCV004357971] Chr8:81459274 [GRCh38]
Chr8:82371509 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.314T>C (p.Ile105Thr) single nucleotide variant not specified [RCV004339648] Chr8:81458636 [GRCh38]
Chr8:82370871 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.13-21.2(chr8:81829690-85172228)x3 copy number gain not specified [RCV003986752] Chr8:81829690..85172228 [GRCh37]
Chr8:8q21.13-21.2		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_001080526.2(FABP9):c.249C>G (p.Ser83Arg) single nucleotide variant not specified [RCV004378414] Chr8:81458701 [GRCh38]
Chr8:82370936 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.155T>C (p.Ile52Thr) single nucleotide variant not specified [RCV004623164] Chr8:81459256 [GRCh38]
Chr8:82371491 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_001080526.2(FABP9):c.128T>C (p.Ile43Thr) single nucleotide variant not specified [RCV004623165] Chr8:81459283 [GRCh38]
Chr8:82371518 [GRCh37]
Chr8:8q21.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:119
Count of miRNA genes:116
Interacting mature miRNAs:119
Transcripts:ENST00000379071
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407364366GWAS1013342_Hblood protein measurement QTL GWAS1013342 (human)6e-33blood protein measurementblood protein measurement (CMO:0000028)88146138181461382Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
1138 592 1017 605 971 234 355 3 66 127 24 1325 1358 2112 540 136 547 310 46

Sequence


Ensembl Acc Id: ENST00000379071   ⟹   ENSP00000368362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl881,458,253 - 81,461,579 (-)Ensembl
RefSeq Acc Id: NM_001080526   ⟹   NP_001073995
RefSeq Status: INFERRED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38881,458,253 - 81,461,579 (-)NCBI
GRCh37882,370,618 - 82,373,758 (-)RGD
Build 36882,533,173 - 82,536,313 (-)NCBI Archive
Celera878,375,577 - 78,378,717 (-)RGD
HuRef877,860,548 - 77,863,688 (-)ENTREZGENE
CHM1_1882,422,217 - 82,425,358 (-)NCBI
T2T-CHM13v2.0881,889,851 - 81,893,177 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001073995 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein ABG49443 (Get FASTA)   NCBI Sequence Viewer  
  EAW87091 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000368362
  ENSP00000368362.2
GenBank Protein Q0Z7S8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001073995   ⟸   NM_001080526
- UniProtKB: Q0Z7S8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000368362   ⟸   ENST00000379071

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q0Z7S8-F1-model_v2 AlphaFold Q0Z7S8 1-132 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3563 AgrOrtholog
COSMIC FABP9 COSMIC
Ensembl Genes ENSG00000205186 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379071 ENTREZGENE
  ENST00000379071.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot
GTEx ENSG00000205186 GTEx
HGNC ID HGNC:3563 ENTREZGENE
Human Proteome Map FABP9 Human Proteome Map
InterPro Calycin UniProtKB/Swiss-Prot
  Fatty_acid-bd UniProtKB/Swiss-Prot
  ILBP UniProtKB/Swiss-Prot
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot
KEGG Report hsa:646480 UniProtKB/Swiss-Prot
NCBI Gene FABP9 ENTREZGENE
OMIM 620856 OMIM
PANTHER FATTY ACID-BINDING PROTEIN 9 UniProtKB/Swiss-Prot
  PTHR11955 UniProtKB/Swiss-Prot
Pfam Lipocalin UniProtKB/Swiss-Prot
PharmGKB PA27964 PharmGKB
PRINTS FATTYACIDBP UniProtKB/Swiss-Prot
PROSITE FABP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot
UniProt FABP9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 FABP9  fatty acid binding protein 9    fatty acid binding protein 9, testis  Symbol and/or name change 5135510 APPROVED