FAAP24 (FA core complex associated protein 24) - Rat Genome Database

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Gene: FAAP24 (FA core complex associated protein 24) Homo sapiens
Analyze
Symbol: FAAP24
Name: FA core complex associated protein 24
RGD ID: 1605898
HGNC Page HGNC:28467
Description: Enables chromatin binding activity. Involved in interstrand cross-link repair. Located in FANCM-MHF complex; chromatin; and nucleoplasm. Part of Fanconi anaemia nuclear complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C19orf40; Fanconi anemia core complex associated protein 24; Fanconi anemia core complex-associated protein 24; Fanconi anemia-associated protein of 24 kDa; Fanconi anemia-associated protein, 24 kDa; FLJ46828; MGC32020
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh381932,972,242 - 32,978,229 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1932,972,209 - 32,978,229 (+)EnsemblGRCh38hg38GRCh38
GRCh371933,463,148 - 33,469,135 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,155,018 - 38,159,814 (+)NCBINCBI36Build 36hg18NCBI36
Celera1930,156,740 - 30,161,565 (+)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1929,965,849 - 29,970,674 (+)NCBIHuRef
CHM1_11933,464,253 - 33,469,078 (+)NCBICHM1_1
T2T-CHM13v2.01935,490,917 - 35,496,903 (+)NCBIT2T-CHM13v2.0
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
chromatin binding  (IBA,IDA,IEA)
DNA binding  (IEA)
protein binding  (IPI)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:15146197   PMID:15489334   PMID:16344560   PMID:17207965   PMID:17289582   PMID:18029348   PMID:18174376   PMID:18206976   PMID:18285517   PMID:18995830  
PMID:20064461   PMID:20347428   PMID:20347429   PMID:20670894   PMID:21832049   PMID:21873635   PMID:22343915   PMID:22705371   PMID:23333308   PMID:23741361   PMID:23932590   PMID:23999858  
PMID:24003026   PMID:24378760   PMID:24699063   PMID:26625197   PMID:26871637   PMID:27107012   PMID:27473539   PMID:28514442   PMID:28986522   PMID:29656893   PMID:30686591   PMID:30804502  
PMID:32393512   PMID:33961781   PMID:35559673  


Genomics

Comparative Map Data
FAAP24
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381932,972,242 - 32,978,229 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1932,972,209 - 32,978,229 (+)EnsemblGRCh38hg38GRCh38
GRCh371933,463,148 - 33,469,135 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,155,018 - 38,159,814 (+)NCBINCBI36Build 36hg18NCBI36
Celera1930,156,740 - 30,161,565 (+)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1929,965,849 - 29,970,674 (+)NCBIHuRef
CHM1_11933,464,253 - 33,469,078 (+)NCBICHM1_1
T2T-CHM13v2.01935,490,917 - 35,496,903 (+)NCBIT2T-CHM13v2.0
Faap24
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39735,091,577 - 35,096,192 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl735,091,577 - 35,096,261 (-)EnsemblGRCm39 Ensembl
GRCm38735,392,152 - 35,396,767 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl735,392,152 - 35,396,836 (-)EnsemblGRCm38mm10GRCm38
MGSCv37736,177,171 - 36,181,786 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36735,100,912 - 35,105,527 (-)NCBIMGSCv36mm8
Celera730,530,652 - 30,535,264 (-)NCBICelera
Cytogenetic Map7B2NCBI
cM Map721.37NCBI
Faap24
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8197,188,678 - 97,194,899 (-)NCBIGRCr8
mRatBN7.2188,051,523 - 88,057,997 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl188,051,911 - 88,057,989 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx193,457,341 - 93,463,505 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01101,923,315 - 101,929,479 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0195,215,631 - 95,221,795 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0191,657,263 - 91,663,485 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl191,657,263 - 91,663,467 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0192,784,851 - 92,791,072 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4187,917,502 - 87,923,706 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera182,401,482 - 82,407,672 (-)NCBICelera
Cytogenetic Map1q21NCBI
Faap24
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554684,977,030 - 4,980,951 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554684,977,024 - 4,980,543 (-)NCBIChiLan1.0ChiLan1.0
FAAP24
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22038,945,608 - 38,950,914 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11940,944,834 - 40,950,068 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01929,895,258 - 29,900,531 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11938,639,129 - 38,644,143 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1938,639,167 - 38,644,143 (+)Ensemblpanpan1.1panPan2
FAAP24
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11119,119,920 - 119,124,964 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1119,120,463 - 119,124,038 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1118,520,158 - 118,525,200 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01119,718,542 - 119,723,594 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1119,715,282 - 119,722,428 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11119,283,959 - 119,287,936 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01118,904,293 - 118,909,333 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01119,964,478 - 119,969,552 (-)NCBIUU_Cfam_GSD_1.0
Faap24
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093498,809,147 - 8,811,892 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365702,834,059 - 2,834,436 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAAP24
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl642,815,528 - 42,819,623 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1642,815,475 - 42,819,116 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2638,322,957 - 38,326,593 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAAP24
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1628,012,664 - 28,018,612 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl628,012,808 - 28,019,627 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660735,598,285 - 5,602,925 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Faap24
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247947,862,139 - 7,868,373 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247947,862,653 - 7,866,065 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAAP24
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12		 pathogenic
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11		 uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_152266.5(FAAP24):c.377C>T (p.Ser126Phe) single nucleotide variant FAAP24-related condition [RCV003916217]|not provided [RCV000966612] Chr19:32974193 [GRCh38]
Chr19:33465099 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_152266.5(FAAP24):c.284G>A (p.Arg95Gln) single nucleotide variant FAAP24-related condition [RCV003910498]|not provided [RCV000887146] Chr19:32974100 [GRCh38]
Chr19:33465006 [GRCh37]
Chr19:19q13.11		 benign
NM_152266.5(FAAP24):c.29G>C (p.Gly10Ala) single nucleotide variant not provided [RCV000974310] Chr19:32973225 [GRCh38]
Chr19:33464131 [GRCh37]
Chr19:19q13.11		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
NM_152266.5(FAAP24):c.597C>T (p.Val199=) single nucleotide variant FAAP24-related condition [RCV003910499]|not provided [RCV000887147] Chr19:32976631 [GRCh38]
Chr19:33467537 [GRCh37]
Chr19:19q13.11		 benign
NM_152266.5(FAAP24):c.312A>G (p.Leu104=) single nucleotide variant not provided [RCV001703345] Chr19:32974128 [GRCh38]
Chr19:33465034 [GRCh37]
Chr19:19q13.11		 likely benign
NM_152266.5(FAAP24):c.635C>T (p.Thr212Met) single nucleotide variant not provided [RCV001725918] Chr19:32976669 [GRCh38]
Chr19:33467575 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
GRCh37/hg19 19q13.11(chr19:32827535-35263640) copy number gain not specified [RCV002052679] Chr19:32827535..35263640 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_33457246)_(33464488_?)del deletion not provided [RCV003122905] Chr19:33457246..33464488 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.392A>C (p.Gln131Pro) single nucleotide variant Inborn genetic diseases [RCV003285338] Chr19:32974208 [GRCh38]
Chr19:33465114 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.43C>A (p.Pro15Thr) single nucleotide variant Inborn genetic diseases [RCV002729060] Chr19:32973239 [GRCh38]
Chr19:33464145 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.65A>T (p.Asn22Ile) single nucleotide variant Inborn genetic diseases [RCV002902466] Chr19:32973261 [GRCh38]
Chr19:33464167 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.283C>T (p.Arg95Trp) single nucleotide variant Inborn genetic diseases [RCV002798375] Chr19:32974099 [GRCh38]
Chr19:33465005 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.416A>G (p.Glu139Gly) single nucleotide variant Inborn genetic diseases [RCV002757628] Chr19:32976450 [GRCh38]
Chr19:33467356 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.567T>G (p.Asn189Lys) single nucleotide variant Inborn genetic diseases [RCV002783953] Chr19:32976601 [GRCh38]
Chr19:33467507 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.526C>T (p.Leu176Phe) single nucleotide variant Inborn genetic diseases [RCV002964625] Chr19:32976560 [GRCh38]
Chr19:33467466 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.598G>A (p.Gly200Arg) single nucleotide variant Inborn genetic diseases [RCV003204354] Chr19:32976632 [GRCh38]
Chr19:33467538 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.355G>C (p.Val119Leu) single nucleotide variant Inborn genetic diseases [RCV003362241] Chr19:32974171 [GRCh38]
Chr19:33465077 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3 copy number gain not provided [RCV003485197] Chr19:32052961..34144873 [GRCh37]
Chr19:19q12-13.11		 uncertain significance
GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3 copy number gain not provided [RCV003485198] Chr19:33301640..34007202 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_152266.5(FAAP24):c.417G>A (p.Glu139=) single nucleotide variant not specified [RCV003391194] Chr19:32976451 [GRCh38]
Chr19:33467357 [GRCh37]
Chr19:19q13.11		 benign
NM_152266.5(FAAP24):c.-13-42A>G single nucleotide variant not specified [RCV003397041] Chr19:32973142 [GRCh38]
Chr19:33464048 [GRCh37]
Chr19:19q13.11		 benign
NM_152266.5(FAAP24):c.575T>C (p.Ile192Thr) single nucleotide variant not specified [RCV003397135] Chr19:32976609 [GRCh38]
Chr19:33467515 [GRCh37]
Chr19:19q13.11		 benign
NM_152266.5(FAAP24):c.*32T>C single nucleotide variant not specified [RCV003389283] Chr19:32976714 [GRCh38]
Chr19:33467620 [GRCh37]
Chr19:19q13.11		 benign
NM_152266.5(FAAP24):c.636G>A (p.Thr212=) single nucleotide variant not specified [RCV003391210] Chr19:32976670 [GRCh38]
Chr19:33467576 [GRCh37]
Chr19:19q13.11		 benign
NM_152266.5(FAAP24):c.106+17C>T single nucleotide variant not specified [RCV003490385] Chr19:32973319 [GRCh38]
Chr19:33464225 [GRCh37]
Chr19:19q13.11		 benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_152266.5(FAAP24):c.21T>C (p.Asp7=) single nucleotide variant FAAP24-related condition [RCV003936765] Chr19:32973217 [GRCh38]
Chr19:33464123 [GRCh37]
Chr19:19q13.11		 likely benign
NM_152266.5(FAAP24):c.330G>A (p.Leu110=) single nucleotide variant FAAP24-related condition [RCV003949208] Chr19:32974146 [GRCh38]
Chr19:33465052 [GRCh37]
Chr19:19q13.11		 likely benign
NM_152266.5(FAAP24):c.396+10G>A single nucleotide variant FAAP24-related condition [RCV003934053] Chr19:32974222 [GRCh38]
Chr19:33465128 [GRCh37]
Chr19:19q13.11		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1997
Count of miRNA genes:783
Interacting mature miRNAs:889
Transcripts:ENST00000254262, ENST00000588258, ENST00000589646, ENST00000590179, ENST00000590281, ENST00000591791
Prediction methods:Microtar, 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.

Markers in Region
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D3S1673  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp22.2UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 43 19 15 383 17 45 23 39 26 338 150 4
Low 2327 2134 1491 445 1367 288 3554 1001 2127 356 1105 1355 164 1181 2037 5
Below cutoff 69 852 215 163 199 160 742 1154 1564 37 16 107 5 1 23 736 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001300978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM679170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX390218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD690094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN368337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA006539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000254262   ⟹   ENSP00000254262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,209 - 32,976,816 (+)Ensembl
RefSeq Acc Id: ENST00000588258   ⟹   ENSP00000466121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,242 - 32,978,229 (+)Ensembl
RefSeq Acc Id: ENST00000589646   ⟹   ENSP00000465569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,221 - 32,976,850 (+)Ensembl
RefSeq Acc Id: ENST00000590179   ⟹   ENSP00000465728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,260 - 32,976,974 (+)Ensembl
RefSeq Acc Id: ENST00000590281   ⟹   ENSP00000468475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,304 - 32,976,812 (+)Ensembl
RefSeq Acc Id: ENST00000591791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,976,986 - 32,977,933 (+)Ensembl
RefSeq Acc Id: ENST00000699959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,256 - 32,977,073 (+)Ensembl
RefSeq Acc Id: ENST00000699960   ⟹   ENSP00000514718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,257 - 32,977,074 (+)Ensembl
RefSeq Acc Id: ENST00000699961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,972,949 - 32,977,742 (+)Ensembl
RefSeq Acc Id: NM_001300978   ⟹   NP_001287907
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381932,972,242 - 32,978,229 (+)NCBI
CHM1_11933,464,228 - 33,469,505 (+)NCBI
T2T-CHM13v2.01935,490,917 - 35,496,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152266   ⟹   NP_689479
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381932,972,242 - 32,978,229 (+)NCBI
GRCh371933,463,140 - 33,468,401 (+)NCBI
Build 361938,155,018 - 38,159,814 (+)NCBI Archive
Celera1930,156,740 - 30,161,565 (+)RGD
HuRef1929,965,849 - 29,970,674 (+)RGD
CHM1_11933,464,228 - 33,469,505 (+)NCBI
T2T-CHM13v2.01935,490,917 - 35,496,903 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259393   ⟹   XP_005259450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381932,972,242 - 32,978,229 (+)NCBI
GRCh371933,463,140 - 33,468,401 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054322582   ⟹   XP_054178557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01935,490,917 - 35,496,903 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_689479   ⟸   NM_152266
- Peptide Label: isoform 1
- UniProtKB: Q8WUJ7 (UniProtKB/Swiss-Prot),   B3KY46 (UniProtKB/Swiss-Prot),   Q96FX6 (UniProtKB/Swiss-Prot),   Q9BTP7 (UniProtKB/Swiss-Prot),   A0A0S2Z5V6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259450   ⟸   XM_005259393
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001287907   ⟸   NM_001300978
- Peptide Label: isoform 2
- UniProtKB: K7EKQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000254262   ⟸   ENST00000254262
RefSeq Acc Id: ENSP00000466121   ⟸   ENST00000588258
RefSeq Acc Id: ENSP00000465569   ⟸   ENST00000589646
RefSeq Acc Id: ENSP00000468475   ⟸   ENST00000590281
RefSeq Acc Id: ENSP00000465728   ⟸   ENST00000590179
RefSeq Acc Id: ENSP00000514718   ⟸   ENST00000699960
RefSeq Acc Id: XP_054178557   ⟸   XM_054322582
- Peptide Label: isoform X1
Protein Domains
DisA/LigA helix-hairpin-helix motif   Fanconi anemia core complex-associated protein

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BTP7-F1-model_v2 AlphaFold Q9BTP7 1-215 view protein structure

Promoters
RGD ID:7239403
Promoter ID:EPDNEW_H25447
Type:initiation region
Name:C19orf40_1
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
GRCh381932,972,272 - 32,972,332EPDNEW
RGD ID:6795222
Promoter ID:HG_KWN:29539
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032816,   NM_152266,   UC002NTZ.1,   UC002NUA.2,   UC002NUC.1,   UC010EDG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361938,154,651 - 38,155,151 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28467 AgrOrtholog
COSMIC FAAP24 COSMIC
Ensembl Genes ENSG00000131944 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000254262.9 UniProtKB/TrEMBL
  ENST00000588258 ENTREZGENE
  ENST00000588258.6 UniProtKB/Swiss-Prot
  ENST00000589646.5 UniProtKB/TrEMBL
  ENST00000590179 ENTREZGENE
  ENST00000590179.1 UniProtKB/TrEMBL
  ENST00000590281.1 UniProtKB/Swiss-Prot
  ENST00000699960.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.10130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5' to 3' exonuclease, C-terminal subdomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131944 GTEx
HGNC ID HGNC:28467 ENTREZGENE
Human Proteome Map FAAP24 Human Proteome Map
InterPro DisA/LigA_HHH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAAP24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RuvA_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91442 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 91442 ENTREZGENE
OMIM 610884 OMIM
PANTHER FANCONI ANEMIA CORE COMPLEX-ASSOCIATED PROTEIN 24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31786 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HHH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA144596473 PharmGKB
Superfamily-SCOP SSF47781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5V6 ENTREZGENE, UniProtKB/TrEMBL
  B3KY46 ENTREZGENE
  FAP24_HUMAN UniProtKB/Swiss-Prot
  K7EKQ4 ENTREZGENE, UniProtKB/TrEMBL
  Q8WUJ7 ENTREZGENE
  Q96FX6 ENTREZGENE
  Q9BTP7 ENTREZGENE
  X6R368_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KY46 UniProtKB/Swiss-Prot
  Q8WUJ7 UniProtKB/Swiss-Prot
  Q96FX6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-15 FAAP24  FA core complex associated protein 24  FAAP24  Fanconi anemia core complex associated protein 24  Symbol and/or name change 5135510 APPROVED
2015-06-02 FAAP24  Fanconi anemia core complex associated protein 24  C19orf40  chromosome 19 open reading frame 40  Symbol and/or name change 5135510 APPROVED