SH2D4A (SH2 domain containing 4A) - Rat Genome Database

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Gene: SH2D4A (SH2 domain containing 4A) Homo sapiens
Analyze
Symbol: SH2D4A
Name: SH2 domain containing 4A
RGD ID: 1317502
HGNC Page HGNC:26102
Description: Enables phosphatase binding activity. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ20967; PPP1R38; protein phosphatase 1 regulatory subunit 38; protein phosphatase 1, regulatory subunit 38; protein SH(2)A; SH2 domain-containing protein 4A; SH2A
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
GRCh38819,313,693 - 19,396,218 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl819,313,693 - 19,396,218 (+)EnsemblGRCh38hg38GRCh38
GRCh37819,171,204 - 19,253,729 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36819,215,483 - 19,297,596 (+)NCBINCBI36Build 36hg18NCBI36
Build 34819,215,486 - 19,297,594NCBI
Celera818,134,620 - 18,217,068 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef817,711,708 - 17,794,051 (+)NCBIHuRef
CHM1_1819,372,569 - 19,455,187 (+)NCBICHM1_1
T2T-CHM13v2.0819,578,579 - 19,661,102 (+)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
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,5-hexanedione  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
benomyl  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bromobenzene  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (ISO)
coumarin  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
flutamide  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
leflunomide  (EXP,ISO)
lipopolysaccharide  (EXP)
mercury dibromide  (EXP)
N-ethyl-N-nitrosourea  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
rac-lactic acid  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8125298   PMID:12476414   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16964243   PMID:17081983   PMID:17353931   PMID:18029348  
PMID:18641339   PMID:19060904   PMID:19389623   PMID:19712589   PMID:20360068   PMID:20379614   PMID:20936779   PMID:21873635   PMID:22658674   PMID:22863883   PMID:23503679   PMID:24315626  
PMID:24556642   PMID:24595857   PMID:25416956   PMID:25814554   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27107012   PMID:27173435   PMID:27311882   PMID:27880917   PMID:28330616  
PMID:28514442   PMID:28718761   PMID:29507755   PMID:29568061   PMID:29892012   PMID:30021884   PMID:30639242   PMID:31515488   PMID:31871319   PMID:32296183   PMID:33397691   PMID:33961781  
PMID:34650049   PMID:34893760   PMID:35831314   PMID:36398662   PMID:36949045   PMID:38043670  


Genomics

Comparative Map Data
SH2D4A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38819,313,693 - 19,396,218 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl819,313,693 - 19,396,218 (+)EnsemblGRCh38hg38GRCh38
GRCh37819,171,204 - 19,253,729 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36819,215,483 - 19,297,596 (+)NCBINCBI36Build 36hg18NCBI36
Build 34819,215,486 - 19,297,594NCBI
Celera818,134,620 - 18,217,068 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef817,711,708 - 17,794,051 (+)NCBIHuRef
CHM1_1819,372,569 - 19,455,187 (+)NCBICHM1_1
T2T-CHM13v2.0819,578,579 - 19,661,102 (+)NCBIT2T-CHM13v2.0
Sh2d4a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39868,729,180 - 68,800,356 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl868,729,219 - 68,800,351 (+)EnsemblGRCm39 Ensembl
GRCm38868,276,528 - 68,347,704 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl868,276,567 - 68,347,699 (+)EnsemblGRCm38mm10GRCm38
MGSCv37870,800,427 - 70,871,603 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36871,205,517 - 71,277,048 (+)NCBIMGSCv36mm8
Celera870,819,013 - 70,892,695 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map833.76NCBI
Sh2d4a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81626,106,721 - 26,176,069 (-)NCBIGRCr8
mRatBN7.21621,339,010 - 21,409,360 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1621,340,015 - 21,409,260 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1624,719,964 - 24,789,247 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01628,151,974 - 28,221,432 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01624,085,301 - 24,154,602 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01623,084,247 - 23,156,825 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1623,083,954 - 23,156,962 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01622,972,707 - 23,044,750 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41622,957,569 - 23,027,864 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11622,957,570 - 23,027,862 (-)NCBI
Celera1621,499,092 - 21,568,252 (-)NCBICelera
Cytogenetic Map16p14NCBI
Sh2d4a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540343,111,804 - 43,170,397 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540343,111,804 - 43,170,344 (+)NCBIChiLan1.0ChiLan1.0
SH2D4A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2737,793,026 - 37,875,297 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1813,518,712 - 13,601,393 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0818,536,774 - 18,619,073 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1815,486,658 - 15,568,497 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl815,486,659 - 15,568,497 (+)Ensemblpanpan1.1panPan2
SH2D4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11622,138,555 - 22,209,326 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1622,143,602 - 22,209,341 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1622,644,579 - 22,715,648 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01623,878,894 - 23,950,089 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1623,879,595 - 23,951,068 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11622,237,393 - 22,308,413 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01622,822,486 - 22,893,799 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01622,875,425 - 22,946,531 (+)NCBIUU_Cfam_GSD_1.0
Sh2d4a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494314,934,352 - 14,997,796 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365553,572,694 - 3,636,161 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365553,572,723 - 3,634,484 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100518097
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11712,506,451 - 12,588,526 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21710,284,074 - 10,325,874 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SH2D4A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1817,401,254 - 17,484,141 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl817,406,951 - 17,484,839 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605224,765,241 - 24,848,022 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sh2d4a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475815,132,839 - 15,191,795 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475815,132,580 - 15,195,063 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SH2D4A
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
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 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 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 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p22-21.3(chr8:18988335-19599269)x3 copy number gain See cases [RCV000135831] Chr8:18988335..19599269 [GRCh38]
Chr8:18845845..19456780 [GRCh37]
Chr8:18890125..19501060 [NCBI36]
Chr8:8p22-21.3		 benign
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
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 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p22-21.3(chr8:18727799-19351154)x3 copy number gain See cases [RCV000139721] Chr8:18727799..19351154 [GRCh38]
Chr8:18585309..19208665 [GRCh37]
Chr8:18629589..19252945 [NCBI36]
Chr8:8p22-21.3		 uncertain significance
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 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 8p22-21.3(chr8:18852451-19355561)x3 copy number gain See cases [RCV000142194] Chr8:18852451..19355561 [GRCh38]
Chr8:18709961..19213072 [GRCh37]
Chr8:18754241..19257352 [NCBI36]
Chr8:8p22-21.3		 uncertain significance
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 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 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
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)x3 copy number gain See cases [RCV000446821] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18770061-19709425)x3 copy number gain See cases [RCV000447250] Chr8:18770061..19709425 [GRCh37]
Chr8:8p22-21.3		 likely benign
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 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
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 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p22-21.3(chr8:18845744-19594010)x3 copy number gain See cases [RCV000511789] Chr8:18845744..19594010 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19108471-19816839)x3 copy number gain See cases [RCV000511994] Chr8:19108471..19816839 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 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
NM_022071.4(SH2D4A):c.199C>A (p.His67Asn) single nucleotide variant not specified [RCV004296354] Chr8:19332972 [GRCh38]
Chr8:19190483 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 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 8p22-21.3(chr8:18831686-19340019)x3 copy number gain See cases [RCV000512389] Chr8:18831686..19340019 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18977653-19438015)x3 copy number gain not provided [RCV000659242] Chr8:18977653..19438015 [GRCh37]
Chr8:8p22-21.3		 likely benign
GRCh37/hg19 8p21.3(chr8:19145799-19472435)x3 copy number gain not provided [RCV000682971] Chr8:19145799..19472435 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
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
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely 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
NM_022071.4(SH2D4A):c.710G>A (p.Arg237Gln) single nucleotide variant not specified [RCV004291404] Chr8:19364075 [GRCh38]
Chr8:19221586 [GRCh37]
Chr8:8p21.3		 uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_022071.4(SH2D4A):c.1130G>C (p.Arg377Thr) single nucleotide variant not specified [RCV004317187] Chr8:19393399 [GRCh38]
Chr8:19250910 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18367759-19510286)x3 copy number gain See cases [RCV000790591] Chr8:18367759..19510286 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19147165-19472940)x3 copy number gain not provided [RCV000848136] Chr8:19147165..19472940 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1 copy number loss not provided [RCV000847806] Chr8:18266233..20864195 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19170422-19451430)x3 copy number gain not provided [RCV001006085] Chr8:19170422..19451430 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19199693-19364763)x1 copy number loss not provided [RCV001259476] Chr8:19199693..19364763 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19164529-19235123)x1 copy number loss not provided [RCV001259477] Chr8:19164529..19235123 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:19109749-19511640)x3 copy number gain not provided [RCV001259478] Chr8:19109749..19511640 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18827276-19340019)x3 copy number gain not provided [RCV001259485] Chr8:18827276..19340019 [GRCh37]
Chr8:8p22-21.3		 likely benign
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 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p21.3(chr8:19157330-19780975)x3 copy number gain not provided [RCV001834532] Chr8:19157330..19780975 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304) copy number gain not specified [RCV002053754] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18444762-19535758)x3 copy number gain not provided [RCV001832880] Chr8:18444762..19535758 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(20112692_?)dup duplication Hereditary spastic paraplegia 53 [RCV003120735] Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
NM_022071.4(SH2D4A):c.410C>T (p.Pro137Leu) single nucleotide variant not specified [RCV004205072] Chr8:19334754 [GRCh38]
Chr8:19192265 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1203C>G (p.Asp401Glu) single nucleotide variant not specified [RCV004141477] Chr8:19393472 [GRCh38]
Chr8:19250983 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.361T>G (p.Phe121Val) single nucleotide variant not specified [RCV004138672] Chr8:19334705 [GRCh38]
Chr8:19192216 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.562A>G (p.Ile188Val) single nucleotide variant not specified [RCV004096602] Chr8:19357251 [GRCh38]
Chr8:19214762 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1171T>A (p.Cys391Ser) single nucleotide variant not specified [RCV004105079] Chr8:19393440 [GRCh38]
Chr8:19250951 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.568C>A (p.Arg190Ser) single nucleotide variant not specified [RCV004120739] Chr8:19357257 [GRCh38]
Chr8:19214768 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1088G>A (p.Ser363Asn) single nucleotide variant not specified [RCV004157775] Chr8:19393357 [GRCh38]
Chr8:19250868 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1168G>A (p.Gly390Ser) single nucleotide variant not specified [RCV004246708] Chr8:19393437 [GRCh38]
Chr8:19250948 [GRCh37]
Chr8:8p21.3		 likely benign
NM_022071.4(SH2D4A):c.544C>A (p.Gln182Lys) single nucleotide variant not specified [RCV004226095] Chr8:19357233 [GRCh38]
Chr8:19214744 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.782C>A (p.Ser261Tyr) single nucleotide variant not specified [RCV004103875] Chr8:19364147 [GRCh38]
Chr8:19221658 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.971G>A (p.Arg324Gln) single nucleotide variant not specified [RCV004168163] Chr8:19373583 [GRCh38]
Chr8:19231094 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1060C>T (p.Leu354Phe) single nucleotide variant not specified [RCV004102040] Chr8:19393329 [GRCh38]
Chr8:19250840 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1001G>A (p.Arg334Gln) single nucleotide variant not specified [RCV004101432] Chr8:19373613 [GRCh38]
Chr8:19231124 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.194C>T (p.Ser65Leu) single nucleotide variant not specified [RCV004075478] Chr8:19332967 [GRCh38]
Chr8:19190478 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1250C>T (p.Ala417Val) single nucleotide variant not specified [RCV004217316] Chr8:19393519 [GRCh38]
Chr8:19251030 [GRCh37]
Chr8:8p21.3		 uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)dup duplication not provided [RCV003154902] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
NM_022071.4(SH2D4A):c.32T>C (p.Ile11Thr) single nucleotide variant not specified [RCV004339264] Chr8:19319579 [GRCh38]
Chr8:19177090 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.732G>C (p.Glu244Asp) single nucleotide variant not specified [RCV004364052] Chr8:19364097 [GRCh38]
Chr8:19221608 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
GRCh37/hg19 8p21.3(chr8:19211984-19268822)x1 copy number loss not specified [RCV003986785] Chr8:19211984..19268822 [GRCh37]
Chr8:8p21.3		 uncertain significance
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 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p21.3(chr8:19252047-19341794)x1 copy number loss not specified [RCV003986781] Chr8:19252047..19341794 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.695G>T (p.Trp232Leu) single nucleotide variant not specified [RCV004448040] Chr8:19361303 [GRCh38]
Chr8:19218814 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.833G>A (p.Arg278His) single nucleotide variant not specified [RCV004448043] Chr8:19364198 [GRCh38]
Chr8:19221709 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1051A>G (p.Ile351Val) single nucleotide variant not specified [RCV004448035] Chr8:19393320 [GRCh38]
Chr8:19250831 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1111C>A (p.Leu371Ile) single nucleotide variant not specified [RCV004448036] Chr8:19393380 [GRCh38]
Chr8:19250891 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1177C>T (p.His393Tyr) single nucleotide variant not specified [RCV004448038] Chr8:19393446 [GRCh38]
Chr8:19250957 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.787G>A (p.Gly263Arg) single nucleotide variant not specified [RCV004448042] Chr8:19364152 [GRCh38]
Chr8:19221663 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1204G>A (p.Ala402Thr) single nucleotide variant not specified [RCV004448039] Chr8:19393473 [GRCh38]
Chr8:19250984 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.739C>T (p.Arg247Cys) single nucleotide variant not specified [RCV004448041] Chr8:19364104 [GRCh38]
Chr8:19221615 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.860C>T (p.Pro287Leu) single nucleotide variant not specified [RCV004448044] Chr8:19364225 [GRCh38]
Chr8:19221736 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1172G>A (p.Cys391Tyr) single nucleotide variant not specified [RCV004448037] Chr8:19393441 [GRCh38]
Chr8:19250952 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.931G>A (p.Val311Met) single nucleotide variant not specified [RCV004667253] Chr8:19373543 [GRCh38]
Chr8:19231054 [GRCh37]
Chr8:8p21.3		 uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)del deletion not provided [RCV004583317] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3		 pathogenic
NM_022071.4(SH2D4A):c.1331A>C (p.Asp444Ala) single nucleotide variant not specified [RCV004666291] Chr8:19394608 [GRCh38]
Chr8:19252119 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.1238A>T (p.His413Leu) single nucleotide variant not specified [RCV004666292] Chr8:19393507 [GRCh38]
Chr8:19251018 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.668G>C (p.Cys223Ser) single nucleotide variant not specified [RCV004667254] Chr8:19361276 [GRCh38]
Chr8:19218787 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_022071.4(SH2D4A):c.839C>T (p.Pro280Leu) single nucleotide variant not specified [RCV004667252] Chr8:19364204 [GRCh38]
Chr8:19221715 [GRCh37]
Chr8:8p21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1671
Count of miRNA genes:812
Interacting mature miRNAs:934
Transcripts:ENST00000265807, ENST00000518040, ENST00000518093, ENST00000519207, ENST00000522328, ENST00000523736
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
407273302GWAS922278_Hbody height QTL GWAS922278 (human)7e-45body height (VT:0001253)body height (CMO:0000106)81939041119390412Human
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
406913443GWAS562419_Htriglyceride measurement QTL GWAS562419 (human)3e-08triglyceride measurementblood triglyceride level (CMO:0000118)81939416819394169Human
407287333GWAS936309_Hhigh density lipoprotein cholesterol measurement QTL GWAS936309 (human)3e-17high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81939416819394169Human
407309924GWAS958900_Htriglyceride measurement QTL GWAS958900 (human)4e-13triglyceride measurementblood triglyceride level (CMO:0000118)81939416819394169Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
406957003GWAS605979_Hbreast density QTL GWAS605979 (human)0.0000006breast density81931401619314017Human
406976810GWAS625786_Hfasting blood glucose measurement QTL GWAS625786 (human)0.000007fasting blood glucose measurementblood glucose level (CMO:0000046)81932193319321934Human
407308060GWAS957036_Htriglyceride measurement QTL GWAS957036 (human)1e-17triglyceride measurementblood triglyceride level (CMO:0000118)81939416819394169Human

Markers in Region
WI-17568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,217,017 - 19,217,166UniSTSGRCh37
Build 36819,261,297 - 19,261,446RGDNCBI36
Celera818,180,584 - 18,180,733RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,757,485 - 17,757,634UniSTS
GeneMap99-GB4 RH Map863.94UniSTS
Whitehead-RH Map887.7UniSTS
WI-15862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,232,655 - 19,232,796UniSTSGRCh37
Build 36819,276,935 - 19,277,076RGDNCBI36
Celera818,196,225 - 18,196,366RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,773,129 - 17,773,270UniSTS
Whitehead-RH Map887.7UniSTS
RH35966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,253,519 - 19,253,654UniSTSGRCh37
Build 36819,297,799 - 19,297,934RGDNCBI36
Celera818,216,858 - 18,216,993RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,793,841 - 17,793,976UniSTS
RH80043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,176,987 - 19,177,228UniSTSGRCh37
Build 36819,221,267 - 19,221,508RGDNCBI36
Celera818,140,517 - 18,140,758RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,717,605 - 17,717,846UniSTS
SHGC-5873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,220,284 - 19,220,508UniSTSGRCh37
Build 36819,264,564 - 19,264,788RGDNCBI36
Celera818,183,852 - 18,184,076RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,760,752 - 17,760,976UniSTS
Stanford-G3 RH Map8869.0UniSTS
D8S2001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,252,201 - 19,252,338UniSTSGRCh37
Build 36819,296,481 - 19,296,618RGDNCBI36
Celera818,215,543 - 18,215,677RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,792,523 - 17,792,660UniSTS
GeneMap99-G3 RH Map8945.0UniSTS
SHGC-33765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,253,563 - 19,253,690UniSTSGRCh37
Build 36819,297,843 - 19,297,970RGDNCBI36
Celera818,216,902 - 18,217,029RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,793,885 - 17,794,012UniSTS
TNG Radiation Hybrid Map810138.0UniSTS
Stanford-G3 RH Map8874.0UniSTS
NCBI RH Map8244.6UniSTS
GeneMap99-G3 RH Map8961.0UniSTS
WI-17471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,253,101 - 19,253,251UniSTSGRCh37
Build 36819,297,381 - 19,297,531RGDNCBI36
Celera818,216,440 - 18,216,590RGD
Cytogenetic Map8p21.2UniSTS
HuRef817,793,423 - 17,793,573UniSTS
GeneMap99-GB4 RH Map864.1UniSTS
Whitehead-RH Map888.0UniSTS
GDB:312946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y1,545,987 - 1,547,412UniSTSGRCh37
GRCh37X1,595,987 - 1,597,412UniSTSGRCh37
CeleraX5,876,723 - 5,878,148UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
HuRef1012,018,492 - 12,018,849UniSTS
HuRef817,750,967 - 17,752,082UniSTS


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 2432 2788 2232 4926 1722 2338 5 624 1763 465 2258 7116 6287 40 3691 1 852 1737 1602 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001174159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY190323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA418381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA952240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB183296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265807   ⟹   ENSP00000265807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,313,693 - 19,396,218 (+)Ensembl
Ensembl Acc Id: ENST00000518040   ⟹   ENSP00000429482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,313,696 - 19,395,027 (+)Ensembl
Ensembl Acc Id: ENST00000518093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,360,788 - 19,364,099 (+)Ensembl
Ensembl Acc Id: ENST00000519207   ⟹   ENSP00000428684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,313,976 - 19,394,953 (+)Ensembl
Ensembl Acc Id: ENST00000522328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,363,809 - 19,373,617 (+)Ensembl
Ensembl Acc Id: ENST00000523736   ⟹   ENSP00000428048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,319,590 - 19,361,298 (+)Ensembl
RefSeq Acc Id: NM_001174159   ⟹   NP_001167630
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,995 - 19,396,218 (+)NCBI
GRCh37819,171,081 - 19,253,729 (+)RGD
Celera818,134,620 - 18,217,068 (+)RGD
HuRef817,711,708 - 17,794,051 (+)ENTREZGENE
CHM1_1819,372,975 - 19,455,187 (+)NCBI
T2T-CHM13v2.0819,578,881 - 19,661,102 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001174160   ⟹   NP_001167631
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,693 - 19,396,218 (+)NCBI
GRCh37819,171,081 - 19,253,729 (+)RGD
Celera818,134,620 - 18,217,068 (+)RGD
HuRef817,711,708 - 17,794,051 (+)ENTREZGENE
CHM1_1819,372,569 - 19,455,187 (+)NCBI
T2T-CHM13v2.0819,578,579 - 19,661,102 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363110   ⟹   NP_001350039
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,693 - 19,396,218 (+)NCBI
T2T-CHM13v2.0819,578,579 - 19,661,102 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363111   ⟹   NP_001350040
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,995 - 19,396,218 (+)NCBI
T2T-CHM13v2.0819,578,881 - 19,661,102 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022071   ⟹   NP_071354
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,693 - 19,396,218 (+)NCBI
GRCh37819,171,081 - 19,253,729 (+)RGD
Build 36819,215,483 - 19,297,596 (+)NCBI Archive
Celera818,134,620 - 18,217,068 (+)RGD
HuRef817,711,708 - 17,794,051 (+)ENTREZGENE
CHM1_1819,372,569 - 19,455,187 (+)NCBI
T2T-CHM13v2.0819,578,579 - 19,661,102 (+)NCBI
Sequence:
RefSeq Acc Id: NR_156444
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,693 - 19,396,218 (+)NCBI
T2T-CHM13v2.0819,578,579 - 19,661,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422079   ⟹   XP_047278035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,995 - 19,393,441 (+)NCBI
RefSeq Acc Id: XM_047422080   ⟹   XP_047278036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,313,995 - 19,393,541 (+)NCBI
RefSeq Acc Id: XM_054360965   ⟹   XP_054216940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0819,578,881 - 19,658,330 (+)NCBI
RefSeq Acc Id: XM_054360966   ⟹   XP_054216941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0819,578,881 - 19,658,430 (+)NCBI
RefSeq Acc Id: NP_071354   ⟸   NM_022071
- Peptide Label: isoform a
- UniProtKB: Q96C88 (UniProtKB/Swiss-Prot),   Q86YM2 (UniProtKB/Swiss-Prot),   Q6NXE9 (UniProtKB/Swiss-Prot),   Q5XKC1 (UniProtKB/Swiss-Prot),   B4DDR1 (UniProtKB/Swiss-Prot),   Q9H7F7 (UniProtKB/Swiss-Prot),   Q9H788 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167631   ⟸   NM_001174160
- Peptide Label: isoform b
- UniProtKB: Q9H788 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167630   ⟸   NM_001174159
- Peptide Label: isoform a
- UniProtKB: Q96C88 (UniProtKB/Swiss-Prot),   Q86YM2 (UniProtKB/Swiss-Prot),   Q6NXE9 (UniProtKB/Swiss-Prot),   Q5XKC1 (UniProtKB/Swiss-Prot),   B4DDR1 (UniProtKB/Swiss-Prot),   Q9H7F7 (UniProtKB/Swiss-Prot),   Q9H788 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350039   ⟸   NM_001363110
- Peptide Label: isoform c
RefSeq Acc Id: NP_001350040   ⟸   NM_001363111
- Peptide Label: isoform c
Ensembl Acc Id: ENSP00000429482   ⟸   ENST00000518040
Ensembl Acc Id: ENSP00000428684   ⟸   ENST00000519207
Ensembl Acc Id: ENSP00000428048   ⟸   ENST00000523736
Ensembl Acc Id: ENSP00000265807   ⟸   ENST00000265807
RefSeq Acc Id: XP_047278036   ⟸   XM_047422080
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047278035   ⟸   XM_047422079
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216941   ⟸   XM_054360966
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216940   ⟸   XM_054360965
- Peptide Label: isoform X1
Protein Domains
SH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H788-F1-model_v2 AlphaFold Q9H788 1-454 view protein structure

Promoters
RGD ID:6807024
Promoter ID:HG_KWN:60834
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:NM_001174159,   NM_001174160,   OTTHUMT00000214094
Position:
Human AssemblyChrPosition (strand)Source
Build 36819,214,771 - 19,215,707 (+)MPROMDB
RGD ID:6813512
Promoter ID:HG_ACW:76060
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:SH2D4A.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36819,265,936 - 19,266,436 (+)MPROMDB
RGD ID:7212737
Promoter ID:EPDNEW_H12114
Type:initiation region
Name:SH2D4A_1
Description:SH2 domain containing 4A
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
GRCh38819,314,001 - 19,314,061EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26102 AgrOrtholog
COSMIC SH2D4A COSMIC
Ensembl Genes ENSG00000104611 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265807 ENTREZGENE
  ENST00000265807.8 UniProtKB/Swiss-Prot
  ENST00000518040 ENTREZGENE
  ENST00000518040.5 UniProtKB/Swiss-Prot
  ENST00000519207 ENTREZGENE
  ENST00000519207.5 UniProtKB/Swiss-Prot
  ENST00000523736.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot
GTEx ENSG00000104611 GTEx
HGNC ID HGNC:26102 ENTREZGENE
Human Proteome Map SH2D4A Human Proteome Map
InterPro SH2 UniProtKB/Swiss-Prot
  SH2_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:63898 UniProtKB/Swiss-Prot
NCBI Gene 63898 ENTREZGENE
OMIM 614968 OMIM
PANTHER SH2 DOMAIN-CONTAINING PROTEIN 4A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T CELL-SPECIFIC ADAPTER PROTEIN TSAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH2 UniProtKB/Swiss-Prot
PharmGKB PA134891945 PharmGKB
PROSITE SH2 UniProtKB/Swiss-Prot
SMART SH2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55550 UniProtKB/Swiss-Prot
UniProt B4DDR1 ENTREZGENE
  H0YAT1_HUMAN UniProtKB/TrEMBL
  Q5XKC1 ENTREZGENE
  Q6NXE9 ENTREZGENE
  Q86YM2 ENTREZGENE
  Q96C88 ENTREZGENE
  Q9H788 ENTREZGENE
  Q9H7F7 ENTREZGENE
  SH24A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DDR1 UniProtKB/Swiss-Prot
  Q5XKC1 UniProtKB/Swiss-Prot
  Q6NXE9 UniProtKB/Swiss-Prot
  Q86YM2 UniProtKB/Swiss-Prot
  Q96C88 UniProtKB/Swiss-Prot
  Q9H7F7 UniProtKB/Swiss-Prot