CYRIA (CYFIP related Rac1 interactor A) - Rat Genome Database

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Gene: CYRIA (CYFIP related Rac1 interactor A) Homo sapiens
Analyze
Symbol: CYRIA
Name: CYFIP related Rac1 interactor A
RGD ID: 1348694
HGNC Page HGNC:25373
Description: Predicted to enable small GTPase binding activity. Predicted to be involved in regulation of actin filament polymerization. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CYFIP-related Rac1 interactor A; CYRI-A; DKFZp566A1524; FAM49A; family with sequence similarity 49 member A; family with sequence similarity 49, member A; FLJ11080; FLJ33961
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38216,549,459 - 16,665,834 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl216,549,459 - 16,666,331 (-)EnsemblGRCh38hg38GRCh38
GRCh37216,730,727 - 16,847,102 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36216,597,382 - 16,710,580 (-)NCBINCBI36Build 36hg18NCBI36
Build 34216,655,528 - 16,768,724NCBI
Celera216,610,797 - 16,684,917 (-)NCBICelera
Cytogenetic Map2p24.2NCBI
HuRef216,505,559 - 16,621,967 (-)NCBIHuRef
CHM1_1216,660,180 - 16,734,676 (-)NCBICHM1_1
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Optic atrophy  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901   PMID:23333304  
PMID:24554482   PMID:26186194   PMID:28514442   PMID:29949196   PMID:29987050   PMID:31413787   PMID:33111431   PMID:33961781   PMID:34165494   PMID:35337019   PMID:35914814   PMID:36215168  
PMID:37120454  


Genomics

Comparative Map Data
CYRIA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38216,549,459 - 16,665,834 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl216,549,459 - 16,666,331 (-)EnsemblGRCh38hg38GRCh38
GRCh37216,730,727 - 16,847,102 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36216,597,382 - 16,710,580 (-)NCBINCBI36Build 36hg18NCBI36
Build 34216,655,528 - 16,768,724NCBI
Celera216,610,797 - 16,684,917 (-)NCBICelera
Cytogenetic Map2p24.2NCBI
HuRef216,505,559 - 16,621,967 (-)NCBIHuRef
CHM1_1216,660,180 - 16,734,676 (-)NCBICHM1_1
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBIT2T-CHM13v2.0
Cyria
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391212,312,136 - 12,430,966 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1212,312,140 - 12,430,966 (+)EnsemblGRCm39 Ensembl
GRCm381212,262,134 - 12,380,965 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1212,262,139 - 12,380,965 (+)EnsemblGRCm38mm10GRCm38
MGSCv371212,268,945 - 12,383,169 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361212,302,329 - 12,402,349 (+)NCBIMGSCv36mm8
Celera1212,607,335 - 12,720,232 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map125.63NCBI
Cyria
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8640,774,165 - 40,883,005 (+)NCBIGRCr8
mRatBN7.2635,045,208 - 35,150,669 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl635,045,208 - 35,150,668 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx635,346,881 - 35,452,349 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0635,661,507 - 35,766,973 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0635,123,999 - 35,229,298 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0637,555,167 - 37,661,196 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl637,555,182 - 37,665,064 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0650,682,248 - 50,788,038 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4635,830,497 - 35,936,574 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1635,875,817 - 35,940,028 (+)NCBI
Celera634,410,256 - 34,515,470 (+)NCBICelera
Cytogenetic Map6q15NCBI
Cyria
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554879,545,639 - 9,636,243 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554879,545,639 - 9,636,183 (-)NCBIChiLan1.0ChiLan1.0
CYRIA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212109,868,729 - 109,979,134 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A109,872,697 - 109,982,420 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A16,532,230 - 16,642,397 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A16,660,464 - 16,728,797 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A16,660,469 - 16,728,797 (-)Ensemblpanpan1.1panPan2
CYRIA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11712,208,319 - 12,311,775 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1712,211,494 - 12,270,152 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1712,154,659 - 12,258,045 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01712,338,751 - 12,442,231 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1712,338,753 - 12,442,261 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11712,196,811 - 12,300,249 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01712,208,493 - 12,311,876 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01712,234,516 - 12,296,349 (-)NCBIUU_Cfam_GSD_1.0
Cyria
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629256,700,509 - 56,758,417 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649314,081,148 - 14,139,780 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649314,081,178 - 14,139,054 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYRIA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3120,968,060 - 121,069,240 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13120,968,016 - 121,069,372 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23129,216,661 - 129,316,473 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYRIA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11490,990,100 - 91,076,449 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1490,961,862 - 91,074,560 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604521,141,542 - 21,251,039 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cyria
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624865343,954 - 429,915 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624865303,124 - 430,426 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYRIA
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_030797.3(FAM49A):c.554G>A (p.Arg185Gln) single nucleotide variant Malignant melanoma [RCV000065158] Chr2:16561237 [GRCh38]
Chr2:16742505 [GRCh37]
Chr2:16605986 [NCBI36]
Chr2:2p24.2		 not provided
NM_030797.3(FAM49A):c.479G>A (p.Arg160Lys) single nucleotide variant Malignant melanoma [RCV000065159] Chr2:16561490 [GRCh38]
Chr2:16742758 [GRCh37]
Chr2:16606239 [NCBI36]
Chr2:2p24.2		 not provided
NM_030797.3(FAM49A):c.70+8517T>C single nucleotide variant Lung cancer [RCV000091641] Chr2:16579533 [GRCh38]
Chr2:16760801 [GRCh37]
Chr2:2p24.2		 uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh38/hg38 2p24.3-24.2(chr2:16230078-16603848)x0 copy number loss See cases [RCV000143704] Chr2:16230078..16603848 [GRCh38]
Chr2:16411346..16785116 [GRCh37]
Chr2:16274827..16648597 [NCBI36]
Chr2:2p24.3-24.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.2(chr2:16838966-16847415)x1 copy number loss not provided [RCV000752866] Chr2:16838966..16847415 [GRCh37]
Chr2:2p24.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3 copy number gain not provided [RCV000847286] Chr2:12269293..18259781 [GRCh37]
Chr2:2p24.3-24.2		 pathogenic
GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1 copy number loss not provided [RCV000847885] Chr2:15631145..21729493 [GRCh37]
Chr2:2p24.3-24.1		 pathogenic
GRCh37/hg19 2p24.3-24.2(chr2:15478363-17062394)x3 copy number gain not provided [RCV001005234] Chr2:15478363..17062394 [GRCh37]
Chr2:2p24.3-24.2		 pathogenic
NC_000002.11:g.15744252_17675820del deletion Optic atrophy [RCV001003856] Chr2:15744252..17675820 [GRCh37]
Chr2:2p24.3-24.2		 likely pathogenic
NM_030797.4(CYRIA):c.856G>A (p.Val286Ile) single nucleotide variant not specified [RCV004608624] Chr2:16555121 [GRCh38]
Chr2:16736389 [GRCh37]
Chr2:2p24.2		 uncertain significance
GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1 copy number loss not provided [RCV001537913] Chr2:15640273..19609496 [GRCh37]
Chr2:2p24.3-24.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NC_000002.11:g.(?_15760332)_(17692222_?)del deletion not provided [RCV001975009] Chr2:15760332..17692222 [GRCh37]
Chr2:2p24.3-24.2		 pathogenic
NM_030797.4(CYRIA):c.144C>G (p.Ile48Met) single nucleotide variant not specified [RCV004608625] Chr2:16565694 [GRCh38]
Chr2:16746962 [GRCh37]
Chr2:2p24.2		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_030797.4(CYRIA):c.10C>A (p.Leu4Met) single nucleotide variant not specified [RCV004261008] Chr2:16588110 [GRCh38]
Chr2:16769378 [GRCh37]
Chr2:2p24.2		 uncertain significance
NM_030797.4(CYRIA):c.153C>A (p.Asp51Glu) single nucleotide variant not specified [RCV004347945] Chr2:16565685 [GRCh38]
Chr2:16746953 [GRCh37]
Chr2:2p24.2		 uncertain significance
NM_030797.4(CYRIA):c.538A>C (p.Asn180His) single nucleotide variant not specified [RCV004370629] Chr2:16561253 [GRCh38]
Chr2:16742521 [GRCh37]
Chr2:2p24.2		 uncertain significance
NM_030797.4(CYRIA):c.496C>T (p.Arg166Cys) single nucleotide variant not specified [RCV004370628] Chr2:16561473 [GRCh38]
Chr2:16742741 [GRCh37]
Chr2:2p24.2		 uncertain significance
NM_030797.4(CYRIA):c.5G>A (p.Gly2Glu) single nucleotide variant not specified [RCV004370630] Chr2:16588115 [GRCh38]
Chr2:16769383 [GRCh37]
Chr2:2p24.2		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NC_000002.11:g.(?_15601305)_(17362569_?)dup duplication not provided [RCV004583845] Chr2:15601305..17362569 [GRCh37]
Chr2:2p24.3-24.2		 uncertain significance
NC_000002.11:g.(?_15307172)_(17963206_?)dup duplication not provided [RCV004583812] Chr2:15307172..17963206 [GRCh37]
Chr2:2p24.3-24.2		 uncertain significance
GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3 copy number gain not specified [RCV003986320] Chr2:6375088..23538518 [GRCh37]
Chr2:2p25.2-24.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2396
Count of miRNA genes:901
Interacting mature miRNAs:1046
Transcripts:ENST00000355549, ENST00000381323, ENST00000406434, ENST00000445605, ENST00000451689, ENST00000469507
Prediction methods:Microtar, 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
407227413GWAS876389_HCleft palate, cleft lip QTL GWAS876389 (human)6e-22Cleft palate, cleft lip21655266016552661Human
406996227GWAS645203_HOrofacial cleft QTL GWAS645203 (human)3e-08Orofacial cleft21655266016552661Human
407159062GWAS808038_Hcleft lip QTL GWAS808038 (human)6e-17cleft lip21655266016552661Human
407277061GWAS926037_Hbody height QTL GWAS926037 (human)9e-11body height (VT:0001253)body height (CMO:0000106)21666456616664567Human
407172562GWAS821538_Hbreast milk measurement QTL GWAS821538 (human)2e-09breast milk measurementmilk measurement (CMO:0000787)21660615316606154Human
407159068GWAS808044_HCleft palate QTL GWAS808044 (human)0.000003Cleft palate21655266016552661Human

Markers in Region
SHGC-84078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37216,786,728 - 16,787,022UniSTSGRCh37
Build 36216,650,209 - 16,650,503RGDNCBI36
Celera216,666,346 - 16,666,640RGD
Cytogenetic Map2p24.2UniSTS
HuRef216,561,559 - 16,561,853UniSTS
TNG Radiation Hybrid Map214133.0UniSTS
D2S1699E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37216,733,172 - 16,733,322UniSTSGRCh37
Build 36216,596,653 - 16,596,803RGDNCBI36
Celera216,613,209 - 16,613,359RGD
Cytogenetic Map2p24.2UniSTS
HuRef216,508,001 - 16,508,151UniSTS
A006V13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37216,733,108 - 16,733,264UniSTSGRCh37
Build 36216,596,589 - 16,596,745RGDNCBI36
Celera216,613,145 - 16,613,301RGD
Cytogenetic Map2p24.2UniSTS
HuRef216,507,937 - 16,508,093UniSTS
GeneMap99-GB4 RH Map260.07UniSTS
NCBI RH Map289.0UniSTS
SHGC-64850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37216,731,338 - 16,731,510UniSTSGRCh37
Build 36216,594,819 - 16,594,991RGDNCBI36
Celera216,611,407 - 16,611,579RGD
Cytogenetic Map2p24.2UniSTS
HuRef216,506,170 - 16,506,342UniSTS
TNG Radiation Hybrid Map212874.0UniSTS


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
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2393 2788 2252 4952 1720 2305 6 621 1932 462 2253 7251 6451 51 3731 1 849 1732 1575 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_030797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA188616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000381323   ⟹   ENSP00000370724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl216,549,459 - 16,665,834 (-)Ensembl
Ensembl Acc Id: ENST00000406434   ⟹   ENSP00000384771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl216,552,936 - 16,665,828 (-)Ensembl
Ensembl Acc Id: ENST00000445605   ⟹   ENSP00000392154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl216,564,005 - 16,666,086 (-)Ensembl
Ensembl Acc Id: ENST00000451689   ⟹   ENSP00000388979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl216,564,024 - 16,666,331 (-)Ensembl
Ensembl Acc Id: ENST00000469507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl216,560,657 - 16,561,482 (-)Ensembl
RefSeq Acc Id: NM_030797   ⟹   NP_110424
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
GRCh37216,730,727 - 16,847,134 (-)NCBI
Build 36216,597,382 - 16,710,580 (-)NCBI Archive
Celera216,610,797 - 16,684,917 (-)RGD
HuRef216,505,559 - 16,621,967 (-)NCBI
CHM1_1216,660,180 - 16,734,676 (-)NCBI
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453163   ⟹   XP_024308931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453166   ⟹   XP_024308934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445939   ⟹   XP_047301895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
RefSeq Acc Id: XM_047445940   ⟹   XP_047301896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
RefSeq Acc Id: XM_047445941   ⟹   XP_047301897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
RefSeq Acc Id: XM_047445942   ⟹   XP_047301898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
RefSeq Acc Id: XM_047445943   ⟹   XP_047301899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,665,834 (-)NCBI
RefSeq Acc Id: XM_047445944   ⟹   XP_047301900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,624,216 (-)NCBI
RefSeq Acc Id: XM_047445945   ⟹   XP_047301901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38216,549,459 - 16,648,326 (-)NCBI
RefSeq Acc Id: XM_054344088   ⟹   XP_054200063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
RefSeq Acc Id: XM_054344089   ⟹   XP_054200064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
RefSeq Acc Id: XM_054344090   ⟹   XP_054200065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
RefSeq Acc Id: XM_054344091   ⟹   XP_054200066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
RefSeq Acc Id: XM_054344092   ⟹   XP_054200067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,648,655 (-)NCBI
RefSeq Acc Id: XM_054344093   ⟹   XP_054200068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
RefSeq Acc Id: XM_054344094   ⟹   XP_054200069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,655,913 (-)NCBI
RefSeq Acc Id: XM_054344095   ⟹   XP_054200070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,672,460 (-)NCBI
RefSeq Acc Id: XM_054344096   ⟹   XP_054200071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
RefSeq Acc Id: XM_054344097   ⟹   XP_054200072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0216,581,160 - 16,697,534 (-)NCBI
Protein Sequences
Protein RefSeqs NP_110424 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308931 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308934 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301895 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301896 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301897 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301898 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301899 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301900 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301901 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200072 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH38971 (Get FASTA)   NCBI Sequence Viewer  
  AAY24282 (Get FASTA)   NCBI Sequence Viewer  
  BAG37539 (Get FASTA)   NCBI Sequence Viewer  
  BAG51503 (Get FASTA)   NCBI Sequence Viewer  
  BAG52323 (Get FASTA)   NCBI Sequence Viewer  
  CAB66639 (Get FASTA)   NCBI Sequence Viewer  
  CAG38535 (Get FASTA)   NCBI Sequence Viewer  
  EAX00878 (Get FASTA)   NCBI Sequence Viewer  
  EAX00879 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000370724
  ENSP00000370724.3
  ENSP00000384771
  ENSP00000384771.1
  ENSP00000388979.1
  ENSP00000392154.1
GenBank Protein Q9H0Q0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_110424   ⟸   NM_030797
- UniProtKB: B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot),   Q9H0Q0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308934   ⟸   XM_024453166
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308931   ⟸   XM_024453163
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000388979   ⟸   ENST00000451689
Ensembl Acc Id: ENSP00000384771   ⟸   ENST00000406434
Ensembl Acc Id: ENSP00000392154   ⟸   ENST00000445605
Ensembl Acc Id: ENSP00000370724   ⟸   ENST00000381323
RefSeq Acc Id: XP_047301898   ⟸   XM_047445942
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301899   ⟸   XM_047445943
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301897   ⟸   XM_047445941
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301896   ⟸   XM_047445940
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301895   ⟸   XM_047445939
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301901   ⟸   XM_047445945
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301900   ⟸   XM_047445944
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200063   ⟸   XM_054344088
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200072   ⟸   XM_054344097
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200065   ⟸   XM_054344090
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200071   ⟸   XM_054344096
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200068   ⟸   XM_054344093
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200064   ⟸   XM_054344089
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200066   ⟸   XM_054344091
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200070   ⟸   XM_054344095
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200069   ⟸   XM_054344094
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200067   ⟸   XM_054344092
- Peptide Label: isoform X1
- UniProtKB: Q9H0Q0 (UniProtKB/Swiss-Prot),   B3KNZ1 (UniProtKB/Swiss-Prot),   Q53QW2 (UniProtKB/Swiss-Prot)
Protein Domains
CYRIA/CYRIB Rac1 binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0Q0-F1-model_v2 AlphaFold Q9H0Q0 1-323 view protein structure

Promoters
RGD ID:6859680
Promoter ID:EPDNEW_H3005
Type:initiation region
Name:FAM49A_1
Description:family with sequence similarity 49 member A
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
GRCh38216,665,828 - 16,665,888EPDNEW
RGD ID:6797348
Promoter ID:HG_KWN:31623
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000406434,   OTTHUMT00000207203,   OTTHUMT00000323733,   OTTHUMT00000323734
Position:
Human AssemblyChrPosition (strand)Source
Build 36216,710,399 - 16,710,899 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25373 AgrOrtholog
COSMIC CYRIA COSMIC
Ensembl Genes ENSG00000197872 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381323 ENTREZGENE
  ENST00000381323.7 UniProtKB/Swiss-Prot
  ENST00000406434 ENTREZGENE
  ENST00000406434.5 UniProtKB/Swiss-Prot
  ENST00000445605.5 UniProtKB/TrEMBL
  ENST00000451689.1 UniProtKB/TrEMBL
GTEx ENSG00000197872 GTEx
HGNC ID HGNC:25373 ENTREZGENE
Human Proteome Map CYRIA Human Proteome Map
InterPro CYRI UniProtKB/TrEMBL
  DUF1394 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM49 UniProtKB/Swiss-Prot
KEGG Report hsa:81553 UniProtKB/Swiss-Prot
NCBI Gene 81553 ENTREZGENE
PANTHER CYFIP-RELATED RAC1 INTERACTOR A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12422 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1394 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394730 PharmGKB
UniProt B3KNZ1 ENTREZGENE
  C9IYV6_HUMAN UniProtKB/TrEMBL
  C9JPE5_HUMAN UniProtKB/TrEMBL
  FA49A_HUMAN UniProtKB/Swiss-Prot
  Q53QW2 ENTREZGENE
  Q9H0Q0 ENTREZGENE
UniProt Secondary B3KNZ1 UniProtKB/Swiss-Prot
  Q53QW2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-11-26 CYRIA  CYFIP related Rac1 interactor A  FAM49A  family with sequence similarity 49 member A  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM49A  family with sequence similarity 49 member A    family with sequence similarity 49, member A  Symbol and/or name change 5135510 APPROVED