GARIN5A (golgi associated RAB2 interactor 5A) - Rat Genome Database

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Gene: GARIN5A (golgi associated RAB2 interactor 5A) Homo sapiens
Analyze
Symbol: GARIN5A
Name: golgi associated RAB2 interactor 5A
RGD ID: 1604551
HGNC Page HGNC:25107
Description: Predicted to be involved in defense response to virus; innate immune response; and positive regulation of type I interferon production. Predicted to be located in Golgi apparatus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FAM71E1; family with sequence similarity 71 member E1; family with sequence similarity 71, member E1; FLJ27522; FLJ43757; GARI like 5; GARIL5; Golgi associated RAB2 interactor protein 5A; Golgi-associated RAB2 interactor protein 5A; hypothetical protein LOC112703
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
GRCh381950,466,788 - 50,476,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,466,785 - 50,476,848 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,970,045 - 50,980,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,661,857 - 55,671,815 (-)NCBINCBI36Build 36hg18NCBI36
Celera1948,020,207 - 48,030,144 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,307,845 - 47,317,851 (-)NCBIHuRef
CHM1_11950,971,789 - 50,981,746 (-)NCBICHM1_1
T2T-CHM13v2.01953,554,302 - 53,564,334 (-)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
Golgi apparatus  (IEA,ISS)
sperm head  (ISO)

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:12477932   PMID:27229929   PMID:28700943   PMID:28930687  


Genomics

Comparative Map Data
GARIN5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,466,788 - 50,476,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,466,785 - 50,476,848 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,970,045 - 50,980,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,661,857 - 55,671,815 (-)NCBINCBI36Build 36hg18NCBI36
Celera1948,020,207 - 48,030,144 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,307,845 - 47,317,851 (-)NCBIHuRef
CHM1_11950,971,789 - 50,981,746 (-)NCBICHM1_1
T2T-CHM13v2.01953,554,302 - 53,564,334 (-)NCBIT2T-CHM13v2.0
Garin5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,145,923 - 44,153,690 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,146,005 - 44,150,910 (+)EnsemblGRCm39 Ensembl
GRCm38744,496,499 - 44,504,266 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,496,581 - 44,501,486 (+)EnsemblGRCm38mm10GRCm38
MGSCv37751,751,958 - 51,756,504 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,364,630 - 44,369,528 (+)NCBIMGSCv36mm8
Celera739,946,509 - 39,951,055 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.83NCBI
Garin5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,125,477 - 104,130,543 (+)NCBIGRCr8
mRatBN7.2194,988,959 - 94,995,971 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl194,988,613 - 94,993,539 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,374,382 - 100,378,935 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01108,847,030 - 108,851,583 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,137,455 - 102,142,008 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,501,556 - 100,507,334 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,501,676 - 100,506,022 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,566,949 - 101,572,014 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4194,974,280 - 94,978,738 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1195,052,353 - 95,056,848 (+)NCBI
Celera189,251,524 - 89,257,302 (+)NCBICelera
Cytogenetic Map1q22NCBI
Garin5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955559676,597 - 683,690 (+)NCBIChiLan1.0ChiLan1.0
GARIN5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22056,533,511 - 56,542,881 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11958,454,266 - 58,463,744 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01947,430,860 - 47,440,894 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11956,331,851 - 56,342,033 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1956,331,851 - 56,342,033 (-)Ensemblpanpan1.1panPan2
GARIN5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,261,215 - 106,266,317 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,261,183 - 106,266,315 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1105,834,296 - 105,839,419 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01106,772,262 - 106,777,385 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1106,772,463 - 106,777,383 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,444,457 - 106,449,580 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01106,085,930 - 106,091,053 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01106,926,589 - 106,931,714 (+)NCBIUU_Cfam_GSD_1.0
Garin5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934922,407,446 - 22,412,802 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936889283,545 - 288,576 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936889283,435 - 288,795 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GARIN5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl655,310,729 - 55,316,370 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1655,310,616 - 55,316,269 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,159,521 - 51,165,348 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GARIN5A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,531,388 - 43,537,532 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607323,519,569 - 23,525,970 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Garin5a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248324,084,962 - 4,088,932 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GARIN5A
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_001308429.2(GARIN5A):c.520G>A (p.Gly174Arg) single nucleotide variant not specified [RCV004262788] Chr19:50475344 [GRCh38]
Chr19:50978601 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:50958539-50986348)x0 copy number loss See cases [RCV000446682] Chr19:50958539..50986348 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
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(chr19:260912-58956888)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(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [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 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3 copy number gain not provided [RCV001007055] Chr19:50469730..51916485 [GRCh37]
Chr19:19q13.33-13.41		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_001308429.2(GARIN5A):c.673G>A (p.Gly225Ser) single nucleotide variant not specified [RCV004292837] Chr19:50467696 [GRCh38]
Chr19:50970953 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_206538.4(EMC10):c.70C>T (p.Arg24Ter) single nucleotide variant EMC10-related disorder [RCV003892179]|Neurodevelopmental disorder with dysmorphic facies and variable seizures [RCV001775294] Chr19:50476614 [GRCh38]
Chr19:50979871 [GRCh37]
Chr19:19q13.33		 likely pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NC_000019.9:g.(?_50887648)_(51364623_?)dup duplication Colorectal cancer, susceptibility to, 10 [RCV001916525] Chr19:50887648..51364623 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_206538.4(EMC10):c.66del (p.Ser23fs) deletion Neurodevelopmental disorder with dysmorphic facies and variable seizures [RCV002281591] Chr19:50476608 [GRCh38]
Chr19:50979865 [GRCh37]
Chr19:19q13.33		 pathogenic
GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3 copy number gain not provided [RCV002474601] Chr19:50883114..51304591 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_206538.4(EMC10):c.64C>T (p.Pro22Ser) single nucleotide variant Inborn genetic diseases [RCV002884482] Chr19:50476608 [GRCh38]
Chr19:50979865 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_206538.4(EMC10):c.114G>A (p.Gly38=) single nucleotide variant Inborn genetic diseases [RCV002708421] Chr19:50476658 [GRCh38]
Chr19:50979915 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.38C>T (p.Pro13Leu) single nucleotide variant not specified [RCV004365629] Chr19:50476351 [GRCh38]
Chr19:50979608 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.412A>T (p.Thr138Ser) single nucleotide variant not specified [RCV004347541] Chr19:50475452 [GRCh38]
Chr19:50978709 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.387G>A (p.Pro129=) single nucleotide variant not provided [RCV003407084] Chr19:50475477 [GRCh38]
Chr19:50978734 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_206538.4(EMC10):c.-6G>C single nucleotide variant not provided [RCV003415387] Chr19:50476539 [GRCh38]
Chr19:50979796 [GRCh37]
Chr19:19q13.33		 likely benign
NM_206538.4(EMC10):c.99G>A (p.Gly33=) single nucleotide variant not provided [RCV003425372] Chr19:50476643 [GRCh38]
Chr19:50979900 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_206538.4(EMC10):c.107C>G (p.Ala36Gly) single nucleotide variant not provided [RCV003886162] Chr19:50476651 [GRCh38]
Chr19:50979908 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001308429.2(GARIN5A):c.734C>T (p.Thr245Met) single nucleotide variant not specified [RCV004392845] Chr19:50467635 [GRCh38]
Chr19:50970892 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.73C>T (p.Leu25Phe) single nucleotide variant not specified [RCV004392847] Chr19:50476316 [GRCh38]
Chr19:50979573 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.739G>C (p.Glu247Gln) single nucleotide variant not specified [RCV004392846] Chr19:50467630 [GRCh38]
Chr19:50970887 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.674G>A (p.Gly225Asp) single nucleotide variant not specified [RCV004392842] Chr19:50467695 [GRCh38]
Chr19:50970952 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.686G>A (p.Arg229Gln) single nucleotide variant not specified [RCV004392843] Chr19:50467683 [GRCh38]
Chr19:50970940 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.464G>A (p.Ser155Asn) single nucleotide variant not specified [RCV004392838] Chr19:50475400 [GRCh38]
Chr19:50978657 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.110A>G (p.Asp37Gly) single nucleotide variant not specified [RCV004392835] Chr19:50476279 [GRCh38]
Chr19:50979536 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.248G>C (p.Gly83Ala) single nucleotide variant not specified [RCV004392836] Chr19:50476141 [GRCh38]
Chr19:50979398 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.334C>G (p.Pro112Ala) single nucleotide variant not specified [RCV004392837] Chr19:50475859 [GRCh38]
Chr19:50979116 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.703C>T (p.Arg235Cys) single nucleotide variant not specified [RCV004392844] Chr19:50467666 [GRCh38]
Chr19:50970923 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.41C>T (p.Pro14Leu) single nucleotide variant not specified [RCV004392839] Chr19:50476348 [GRCh38]
Chr19:50979605 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.620G>A (p.Arg207His) single nucleotide variant not specified [RCV004392841] Chr19:50467749 [GRCh38]
Chr19:50971006 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.482C>T (p.Pro161Leu) single nucleotide variant not specified [RCV004392840] Chr19:50475382 [GRCh38]
Chr19:50978639 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.682G>A (p.Val228Met) single nucleotide variant not specified [RCV004623816] Chr19:50467687 [GRCh38]
Chr19:50970944 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.70C>T (p.Pro24Ser) single nucleotide variant not specified [RCV004634488] Chr19:50476319 [GRCh38]
Chr19:50979576 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.22G>C (p.Asp8His) single nucleotide variant not specified [RCV004634487] Chr19:50476367 [GRCh38]
Chr19:50979624 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001308429.2(GARIN5A):c.308G>A (p.Gly103Asp) single nucleotide variant not specified [RCV004634489] Chr19:50475885 [GRCh38]
Chr19:50979142 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1663
Count of miRNA genes:622
Interacting mature miRNAs:711
Transcripts:ENST00000593796, ENST00000595790, ENST00000599206, ENST00000600100, ENST00000600330, ENST00000602178
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH98508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,970,170 - 50,971,002UniSTSGRCh37
Celera1948,020,332 - 48,021,164UniSTS
Cytogenetic Map19q13.33UniSTS
HuRef1947,307,970 - 47,308,802UniSTS
GeneMap99-GB4 RH Map19272.79UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1193 2427 2773 2226 4928 1717 2334 3 617 1688 459 2250 6995 6167 50 3695 842 1720 1606 170

Sequence


Ensembl Acc Id: ENST00000593796   ⟹   ENSP00000471374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,466,785 - 50,475,485 (-)Ensembl
Ensembl Acc Id: ENST00000595790   ⟹   ENSP00000471272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,466,788 - 50,476,746 (-)Ensembl
Ensembl Acc Id: ENST00000599206   ⟹   ENSP00000472434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,466,790 - 50,476,301 (-)Ensembl
Ensembl Acc Id: ENST00000600100   ⟹   ENSP00000472421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,466,788 - 50,476,848 (-)Ensembl
Ensembl Acc Id: ENST00000600330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,475,304 - 50,476,256 (-)Ensembl
Ensembl Acc Id: ENST00000602178   ⟹   ENSP00000469375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,466,788 - 50,476,271 (-)Ensembl
RefSeq Acc Id: NM_001308429   ⟹   NP_001295358
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,466,788 - 50,476,848 (-)NCBI
CHM1_11950,971,786 - 50,981,746 (-)NCBI
T2T-CHM13v2.01953,554,302 - 53,564,334 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138411   ⟹   NP_612420
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,466,788 - 50,476,848 (-)NCBI
GRCh371950,970,045 - 50,980,085 (-)NCBI
Build 361955,661,857 - 55,671,815 (-)NCBI Archive
Celera1948,020,207 - 48,030,144 (-)RGD
HuRef1947,307,845 - 47,317,851 (-)ENTREZGENE
CHM1_11950,971,786 - 50,981,746 (-)NCBI
T2T-CHM13v2.01953,554,302 - 53,564,334 (-)NCBI
Sequence:
RefSeq Acc Id: NP_612420   ⟸   NM_138411
- Peptide Label: isoform 2
- UniProtKB: Q6IPT2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295358   ⟸   NM_001308429
- Peptide Label: isoform 1
- UniProtKB: Q96EJ5 (UniProtKB/Swiss-Prot),   Q9BSM9 (UniProtKB/Swiss-Prot),   Q6IPT2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000471272   ⟸   ENST00000595790
Ensembl Acc Id: ENSP00000472434   ⟸   ENST00000599206
Ensembl Acc Id: ENSP00000472421   ⟸   ENST00000600100
Ensembl Acc Id: ENSP00000469375   ⟸   ENST00000602178
Ensembl Acc Id: ENSP00000471374   ⟸   ENST00000593796
Protein Domains
Golgi associated RAB2 interactor protein-like Rab2B-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6IPT2-F1-model_v2 AlphaFold Q6IPT2 1-247 view protein structure

Promoters
RGD ID:13205271
Promoter ID:EPDNEW_H26216
Type:initiation region
Name:FAM71E1_1
Description:family with sequence similarity 71 member E1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,476,848 - 50,476,908EPDNEW
RGD ID:6795541
Promoter ID:HG_KWN:30617
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562
Transcripts:NM_138411,   UC002PSH.1,   UC002PSI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,671,349 - 55,671,849 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25107 AgrOrtholog
COSMIC GARIN5A COSMIC
Ensembl Genes ENSG00000142530 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000593796.5 UniProtKB/TrEMBL
  ENST00000595790 ENTREZGENE
  ENST00000595790.5 UniProtKB/Swiss-Prot
  ENST00000599206.1 UniProtKB/TrEMBL
  ENST00000600100 ENTREZGENE
  ENST00000600100.6 UniProtKB/Swiss-Prot
  ENST00000602178.5 UniProtKB/TrEMBL
GTEx ENSG00000142530 GTEx
HGNC ID HGNC:25107 ENTREZGENE
Human Proteome Map GARIN5A Human Proteome Map
InterPro DUF3699 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:112703 UniProtKB/Swiss-Prot
NCBI Gene 112703 ENTREZGENE
OMIM 619890 OMIM
PANTHER PROTEIN FAM71E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3699 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166351813 PharmGKB
UniProt A0A075B789_HUMAN UniProtKB/TrEMBL
  A0A075B7A4_HUMAN UniProtKB/TrEMBL
  B3KWT0_HUMAN UniProtKB/TrEMBL
  F71E1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96EJ5 ENTREZGENE
  Q9BSM9 ENTREZGENE
UniProt Secondary Q96EJ5 UniProtKB/Swiss-Prot
  Q9BSM9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-11-29 GARIN5A  golgi associated RAB2 interactor 5A  FAM71E1  family with sequence similarity 71 member E1  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 FAM71E1  family with sequence similarity 71 member E1    family with sequence similarity 71, member E1  Symbol and/or name change 5135510 APPROVED