WASHC2A (WASH complex subunit 2A) - Rat Genome Database

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Gene: WASHC2A (WASH complex subunit 2A) Homo sapiens
Analyze
Symbol: WASHC2A
Name: WASH complex subunit 2A
RGD ID: 1603151
HGNC Page HGNC:23416
Description: Predicted to enable phosphatidylinositol phosphate binding activity and retromer complex binding activity. Involved in protein localization to endosome. Located in cytosol and nucleolus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: alternative protein FAM21B; bA56A21.1; bA98I6.1; FAM21A; FAM21B; family with sequence similarity 21 member A; family with sequence similarity 21, member A; family with sequence similarity 21, member B; WASH complex subunit FAM21A; WASH complex subunit FAM21B
RGD Orthologs
Squirrel
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FAM21EP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381050,067,954 - 50,133,509 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1050,067,888 - 50,133,509 (+)EnsemblGRCh38hg38GRCh38
GRCh371051,827,714 - 51,893,269 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361051,497,690 - 51,563,275 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map10q11.23NCBI
HuRef1045,861,360 - 45,883,269 (+)NCBIHuRef
CHM1_11052,109,574 - 52,175,326 (+)NCBICHM1_1
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Megacolon  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Retromer and sorting nexins in endosomal sorting. Gallon M and Cullen PJ, Biochem Soc Trans. 2015 Feb;43(1):33-47. doi: 10.1042/BST20140290.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:8889549   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15847701   PMID:16344560   PMID:19922874   PMID:19922875   PMID:20360068   PMID:20827171   PMID:21873635  
PMID:22354992   PMID:22863883   PMID:22939629   PMID:23667531   PMID:25355947   PMID:25900982   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26956659  
PMID:28514442   PMID:28581483   PMID:28718761   PMID:28892079   PMID:29084197   PMID:29507755   PMID:29540532   PMID:29568061   PMID:29735545   PMID:29778605   PMID:30021884   PMID:30890647  
PMID:31091453   PMID:31732153   PMID:33417871   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34315543   PMID:34349018   PMID:34432599   PMID:34672954   PMID:34709727  
PMID:35140242   PMID:35271311   PMID:35384245   PMID:35748872   PMID:35831314   PMID:35944360   PMID:35973513   PMID:36215168   PMID:36232890   PMID:36779422   PMID:36964488   PMID:37151849  
PMID:37232246   PMID:37827155   PMID:38029687   PMID:38334954   PMID:38580884   PMID:38943005  


Genomics

Comparative Map Data
WASHC2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381050,067,954 - 50,133,509 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1050,067,888 - 50,133,509 (+)EnsemblGRCh38hg38GRCh38
GRCh371051,827,714 - 51,893,269 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361051,497,690 - 51,563,275 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map10q11.23NCBI
HuRef1045,861,360 - 45,883,269 (+)NCBIHuRef
CHM1_11052,109,574 - 52,175,326 (+)NCBICHM1_1
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBIT2T-CHM13v2.0
Washc2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721379,060,962 - 79,117,630 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936728263,790 - 320,428 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0

Variants

.
Variants in WASHC2A
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
NC_000010.10:g.49033586_52417694del deletion Megacolon [RCV001290060] Chr10:49033586..52417694 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.23(chr10:49971505-50699223)x1 copy number loss See cases [RCV000138898] Chr10:49971505..50699223 [GRCh38]
Chr10:51886486..52458983 [GRCh37]
Chr10:51401271..52128989 [NCBI36]
Chr10:10q11.23		 uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23		 likely benign
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3 copy number gain See cases [RCV000449059] Chr10:49392896..52372011 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
NM_001005751.3(WASHC2A):c.3284C>T (p.Ala1095Val) single nucleotide variant not specified [RCV004288381] Chr10:50129615 [GRCh38]
Chr10:51889375 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:51830346-51891907)x1 copy number loss See cases [RCV000447386] Chr10:51830346..51891907 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:51790819-52167537) copy number gain Abnormal esophagus morphology [RCV000416651] Chr10:51790819..52167537 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.23(chr10:51735637-52479003)x1 copy number loss See cases [RCV000510364] Chr10:51735637..52479003 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
NM_001005751.3(WASHC2A):c.1762G>C (p.Ala588Pro) single nucleotide variant not specified [RCV004311822] Chr10:50106358 [GRCh38]
Chr10:51866118 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_001005751.3(WASHC2A):c.3238C>T (p.Arg1080Trp) single nucleotide variant not specified [RCV004312022] Chr10:50129569 [GRCh38]
Chr10:51889329 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3 copy number gain See cases [RCV000512610] Chr10:49381707..52467180 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
GRCh37/hg19 10q11.23(chr10:51757722-52431727)x3 copy number gain not provided [RCV000683245] Chr10:51757722..52431727 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.23(chr10:51774712-52431727)x3 copy number gain not provided [RCV000683243] Chr10:51774712..52431727 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.23(chr10:51835528-51911934)x3 copy number gain not provided [RCV000737114] Chr10:51835528..51911934 [GRCh37]
Chr10:10q11.23		 benign
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1		 likely pathogenic
NM_001005751.3(WASHC2A):c.1558T>C (p.Ser520Pro) single nucleotide variant not specified [RCV004288316] Chr10:50099987 [GRCh38]
Chr10:51859747 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3 copy number gain not provided [RCV000846722] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.23(chr10:51744546-52428369)x1 copy number loss not provided [RCV000845658] Chr10:51744546..52428369 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:51659413-52476136)x1 copy number loss not provided [RCV001006321] Chr10:51659413..52476136 [GRCh37]
Chr10:10q11.23		 likely benign|uncertain significance
NM_001005751.3(WASHC2A):c.968T>C (p.Leu323Pro) single nucleotide variant not specified [RCV004683507] Chr10:50092198 [GRCh38]
Chr10:51851958 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.43T>G (p.Ser15Ala) single nucleotide variant not specified [RCV004683509] Chr10:50068144 [GRCh38]
Chr10:51827904 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3301G>T (p.Ala1101Ser) single nucleotide variant not specified [RCV004683510] Chr10:50129632 [GRCh38]
Chr10:51889392 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:51753154-52166339)x3 copy number gain not provided [RCV001260094] Chr10:51753154..52166339 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001005751.3(WASHC2A):c.1031C>G (p.Pro344Arg) single nucleotide variant not specified [RCV004683504] Chr10:50093295 [GRCh38]
Chr10:51853055 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3920C>G (p.Thr1307Arg) single nucleotide variant not specified [RCV004683505] Chr10:50132839 [GRCh38]
Chr10:51892599 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.23(chr10:51735638-52476136)x1 copy number loss not provided [RCV001833006] Chr10:51735638..52476136 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3416G>A (p.Gly1139Asp) single nucleotide variant not specified [RCV004683506] Chr10:50129747 [GRCh38]
Chr10:51889507 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1 copy number loss See cases [RCV002286348] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1579C>T (p.Pro527Ser) single nucleotide variant not specified [RCV004321696] Chr10:50100008 [GRCh38]
Chr10:51859768 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3181G>A (p.Val1061Ile) single nucleotide variant not specified [RCV004248975] Chr10:50129512 [GRCh38]
Chr10:51889272 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3868A>G (p.Ile1290Val) single nucleotide variant not specified [RCV004253108] Chr10:50131060 [GRCh38]
Chr10:51890820 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3725C>T (p.Thr1242Met) single nucleotide variant not specified [RCV004254051] Chr10:50130917 [GRCh38]
Chr10:51890677 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1091G>T (p.Gly364Val) single nucleotide variant not specified [RCV004262836] Chr10:50093355 [GRCh38]
Chr10:51853115 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.986G>A (p.Arg329Lys) single nucleotide variant not specified [RCV004274919] Chr10:50092216 [GRCh38]
Chr10:51851976 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_001005751.3(WASHC2A):c.2801A>G (p.Glu934Gly) single nucleotide variant not specified [RCV004355469] Chr10:50126169 [GRCh38]
Chr10:51885929 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1042G>A (p.Asp348Asn) single nucleotide variant not specified [RCV004341437] Chr10:50093306 [GRCh38]
Chr10:51853066 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1		 pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_001005751.3(WASHC2A):c.3920C>T (p.Thr1307Ile) single nucleotide variant not provided [RCV003417381] Chr10:50132839 [GRCh38]
Chr10:51892599 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001005751.3(WASHC2A):c.3938G>A (p.Arg1313Gln) single nucleotide variant not provided [RCV003417382] Chr10:50132857 [GRCh38]
Chr10:51892617 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001005751.3(WASHC2A):c.3948G>A (p.Gln1316=) single nucleotide variant not provided [RCV003417383] Chr10:50132867 [GRCh38]
Chr10:51892627 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000) copy number loss Pulmonary arterial hypertension [RCV004555161] Chr10:45795500..50134000 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
NC_000010.10:g.(?_49383876)_(52383915_?)del deletion Cockayne syndrome type 2 [RCV003885341] Chr10:49383876..52383915 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_001005751.3(WASHC2A):c.1174A>C (p.Lys392Gln) single nucleotide variant not specified [RCV004477926] Chr10:50093911 [GRCh38]
Chr10:51853671 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1279A>C (p.Met427Leu) single nucleotide variant not specified [RCV004477928] Chr10:50095637 [GRCh38]
Chr10:51855397 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001005751.3(WASHC2A):c.1558T>A (p.Ser520Thr) single nucleotide variant not specified [RCV004477932] Chr10:50099987 [GRCh38]
Chr10:51859747 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1646C>T (p.Ser549Phe) single nucleotide variant not specified [RCV004477933] Chr10:50104052 [GRCh38]
Chr10:51863812 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1665G>C (p.Lys555Asn) single nucleotide variant not specified [RCV004477935] Chr10:50104071 [GRCh38]
Chr10:51863831 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1706T>C (p.Leu569Ser) single nucleotide variant not specified [RCV004477936] Chr10:50104112 [GRCh38]
Chr10:51863872 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001005751.3(WASHC2A):c.1751G>C (p.Gly584Ala) single nucleotide variant not specified [RCV004477937] Chr10:50106347 [GRCh38]
Chr10:51866107 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1902C>G (p.His634Gln) single nucleotide variant not specified [RCV004477938] Chr10:50110133 [GRCh38]
Chr10:51869893 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.2284G>A (p.Glu762Lys) single nucleotide variant not specified [RCV004477939] Chr10:50118047 [GRCh38]
Chr10:51877807 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1153C>T (p.Arg385Trp) single nucleotide variant not specified [RCV004477925] Chr10:50093890 [GRCh38]
Chr10:51853650 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1234T>G (p.Phe412Val) single nucleotide variant not specified [RCV004477927] Chr10:50095201 [GRCh38]
Chr10:51854961 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1331G>A (p.Gly444Asp) single nucleotide variant not specified [RCV004477929] Chr10:50095689 [GRCh38]
Chr10:51855449 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1402A>T (p.Ser468Cys) single nucleotide variant not specified [RCV004477930] Chr10:50095760 [GRCh38]
Chr10:51855520 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1484C>A (p.Ala495Asp) single nucleotide variant not specified [RCV004477931] Chr10:50097738 [GRCh38]
Chr10:51857498 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.232C>T (p.Arg78Cys) single nucleotide variant not specified [RCV004477940] Chr10:50069652 [GRCh38]
Chr10:51829412 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3400G>C (p.Asp1134His) single nucleotide variant not specified [RCV004477943] Chr10:50129731 [GRCh38]
Chr10:51889491 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3523C>G (p.Leu1175Val) single nucleotide variant not specified [RCV004477944] Chr10:50129854 [GRCh38]
Chr10:51889614 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3535A>G (p.Ser1179Gly) single nucleotide variant not specified [RCV004477945] Chr10:50129866 [GRCh38]
Chr10:51889626 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001005751.3(WASHC2A):c.3907A>G (p.Ile1303Val) single nucleotide variant not specified [RCV004477948] Chr10:50132826 [GRCh38]
Chr10:51892586 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.4022A>G (p.Gln1341Arg) single nucleotide variant not specified [RCV004477949] Chr10:50132941 [GRCh38]
Chr10:51892701 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.49C>T (p.Pro17Ser) single nucleotide variant not specified [RCV004477950] Chr10:50068150 [GRCh38]
Chr10:51827910 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.96C>A (p.Ser32Arg) single nucleotide variant not specified [RCV004477951] Chr10:50068197 [GRCh38]
Chr10:51827957 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1108G>A (p.Asp370Asn) single nucleotide variant not specified [RCV004477923] Chr10:50093372 [GRCh38]
Chr10:51853132 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3854T>G (p.Val1285Gly) single nucleotide variant not specified [RCV004477946] Chr10:50131046 [GRCh38]
Chr10:51890806 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1012G>C (p.Asp338His) single nucleotide variant not specified [RCV004477921] Chr10:50093276 [GRCh38]
Chr10:51853036 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1087G>T (p.Gly363Trp) single nucleotide variant not specified [RCV004477922] Chr10:50093351 [GRCh38]
Chr10:51853111 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1144C>T (p.Pro382Ser) single nucleotide variant not specified [RCV004477924] Chr10:50093881 [GRCh38]
Chr10:51853641 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.1657G>A (p.Ala553Thr) single nucleotide variant not specified [RCV004477934] Chr10:50104063 [GRCh38]
Chr10:51863823 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.2733C>G (p.Asp911Glu) single nucleotide variant not specified [RCV004477941] Chr10:50126101 [GRCh38]
Chr10:51885861 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3074A>G (p.His1025Arg) single nucleotide variant not specified [RCV004477942] Chr10:50127782 [GRCh38]
Chr10:51887542 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3881A>G (p.Asp1294Gly) single nucleotide variant not specified [RCV004477947] Chr10:50131073 [GRCh38]
Chr10:51890833 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001005751.3(WASHC2A):c.3740C>T (p.Pro1247Leu) single nucleotide variant not specified [RCV004688703] Chr10:50130932 [GRCh38]
Chr10:51890692 [GRCh37]
Chr10:10q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2393
Count of miRNA genes:930
Interacting mature miRNAs:1115
Transcripts:ENST00000282633, ENST00000314664, ENST00000351071, ENST00000399339, ENST00000434114, ENST00000454806, ENST00000476514, ENST00000492914
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001005751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA147749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL954360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE744488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ060891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU690083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN314884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR994976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX762870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA313442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA402580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA466642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC336167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000282633   ⟹   ENSP00000282633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,067,954 - 50,133,509 (+)Ensembl
Ensembl Acc Id: ENST00000314664   ⟹   ENSP00000314417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,067,923 - 50,133,349 (+)Ensembl
Ensembl Acc Id: ENST00000351071   ⟹   ENSP00000344037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,067,907 - 50,133,506 (+)Ensembl
Ensembl Acc Id: ENST00000399339   ⟹   ENSP00000382277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,078,126 - 50,133,506 (+)Ensembl
Ensembl Acc Id: ENST00000434114   ⟹   ENSP00000403781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,067,924 - 50,133,502 (+)Ensembl
Ensembl Acc Id: ENST00000454806   ⟹   ENSP00000398095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,119,650 - 50,126,508 (+)Ensembl
Ensembl Acc Id: ENST00000476514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,080,876 - 50,085,619 (+)Ensembl
Ensembl Acc Id: ENST00000492914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,069,510 - 50,091,505 (+)Ensembl
Ensembl Acc Id: ENST00000611324   ⟹   ENSP00000481763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,067,888 - 50,133,506 (+)Ensembl
RefSeq Acc Id: NM_001005751   ⟹   NP_001005751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
GRCh371051,827,684 - 51,893,269 (+)RGD
Build 361051,497,690 - 51,563,275 (+)NCBI Archive
HuRef1045,847,438 - 45,860,496 (+)NCBI
CHM1_11052,109,538 - 52,175,326 (+)NCBI
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291398   ⟹   NP_001278327
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
CHM1_11052,109,538 - 52,175,326 (+)NCBI
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330102   ⟹   NP_001317031
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269806   ⟹   XP_005269863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269807   ⟹   XP_005269864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269810   ⟹   XP_005269867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,110,140 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717831   ⟹   XP_006717894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717832   ⟹   XP_006717895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539786   ⟹   XP_011538088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016227   ⟹   XP_016871716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016228   ⟹   XP_016871717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016229   ⟹   XP_016871718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016231   ⟹   XP_016871720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016232   ⟹   XP_016871721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016233   ⟹   XP_016871722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,082,734 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447991   ⟹   XP_024303759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,097,714 - 50,133,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425206   ⟹   XP_047281162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425207   ⟹   XP_047281163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425208   ⟹   XP_047281164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425209   ⟹   XP_047281165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425210   ⟹   XP_047281166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425211   ⟹   XP_047281167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425212   ⟹   XP_047281168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425213   ⟹   XP_047281169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425214   ⟹   XP_047281170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425215   ⟹   XP_047281171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425216   ⟹   XP_047281172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425217   ⟹   XP_047281173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425218   ⟹   XP_047281174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,082,726 - 50,133,509 (+)NCBI
RefSeq Acc Id: XM_047425219   ⟹   XP_047281175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,113,997 (+)NCBI
RefSeq Acc Id: XM_047425220   ⟹   XP_047281176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,067,954 - 50,113,997 (+)NCBI
RefSeq Acc Id: XM_054365852   ⟹   XP_054221827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365853   ⟹   XP_054221828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365854   ⟹   XP_054221829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365855   ⟹   XP_054221830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365856   ⟹   XP_054221831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365857   ⟹   XP_054221832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365858   ⟹   XP_054221833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365859   ⟹   XP_054221834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365860   ⟹   XP_054221835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365861   ⟹   XP_054221836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365862   ⟹   XP_054221837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365863   ⟹   XP_054221838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365864   ⟹   XP_054221839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365865   ⟹   XP_054221840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365866   ⟹   XP_054221841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365867   ⟹   XP_054221842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365868   ⟹   XP_054221843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365869   ⟹   XP_054221844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365870   ⟹   XP_054221845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365871   ⟹   XP_054221846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365872   ⟹   XP_054221847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365873   ⟹   XP_054221848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365874   ⟹   XP_054221849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,932,380 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365875   ⟹   XP_054221850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,932,372 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365876   ⟹   XP_054221851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,963,648 (+)NCBI
RefSeq Acc Id: XM_054365877   ⟹   XP_054221852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,947,362 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365878   ⟹   XP_054221853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,959,792 - 50,983,160 (+)NCBI
RefSeq Acc Id: XM_054365879   ⟹   XP_054221854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01050,917,598 - 50,963,648 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001005751 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278327 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317031 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269863 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269864 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269867 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717894 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717895 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538088 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871716 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871717 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871718 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871720 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871721 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871722 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303759 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281162 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281163 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281164 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281165 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281166 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281167 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281168 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281169 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281170 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281171 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281172 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281173 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281174 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281175 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281176 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221827 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221828 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221829 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221831 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221832 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221833 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221834 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221835 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221836 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221837 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221838 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221839 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221840 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221841 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221842 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221843 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221844 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221845 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221847 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221848 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221849 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221850 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221851 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221852 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221853 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221854 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH65500 (Get FASTA)   NCBI Sequence Viewer  
  AAH75815 (Get FASTA)   NCBI Sequence Viewer  
  AAH82258 (Get FASTA)   NCBI Sequence Viewer  
  AAI44480 (Get FASTA)   NCBI Sequence Viewer  
  BAA91836 (Get FASTA)   NCBI Sequence Viewer  
  BAG58154 (Get FASTA)   NCBI Sequence Viewer  
  BAG65017 (Get FASTA)   NCBI Sequence Viewer  
  CAB45765 (Get FASTA)   NCBI Sequence Viewer  
  CAI17187 (Get FASTA)   NCBI Sequence Viewer  
  CAI17188 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43590 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43591 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000282633
  ENSP00000282633.5
  ENSP00000314417
  ENSP00000314417.7
  ENSP00000344037
  ENSP00000344037.6
  ENSP00000382277
  ENSP00000382277.2
  ENSP00000398095.1
  ENSP00000403781.2
  ENSP00000481763
  ENSP00000481763.1
GenBank Protein Q641Q2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001005751   ⟸   NM_001005751
- Peptide Label: isoform 1
- UniProtKB: Q6DHY0 (UniProtKB/Swiss-Prot),   Q641Q2 (UniProtKB/Swiss-Prot),   Q5SNT6 (UniProtKB/Swiss-Prot),   A2A3U6 (UniProtKB/Swiss-Prot),   A2A3S2 (UniProtKB/Swiss-Prot),   B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717894   ⟸   XM_006717831
- Peptide Label: isoform X6
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269864   ⟸   XM_005269807
- Peptide Label: isoform X2
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269863   ⟸   XM_005269806
- Peptide Label: isoform X1
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717895   ⟸   XM_006717832
- Peptide Label: isoform X16
- UniProtKB: A0A087WYF6 (UniProtKB/TrEMBL),   B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269867   ⟸   XM_005269810
- Peptide Label: isoform X27
- Sequence:
RefSeq Acc Id: NP_001278327   ⟸   NM_001291398
- Peptide Label: isoform 2
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538088   ⟸   XM_011539786
- Peptide Label: isoform X20
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871716   ⟸   XM_017016227
- Peptide Label: isoform X3
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871720   ⟸   XM_017016231
- Peptide Label: isoform X9
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871718   ⟸   XM_017016229
- Peptide Label: isoform X5
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871717   ⟸   XM_017016228
- Peptide Label: isoform X4
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871721   ⟸   XM_017016232
- Peptide Label: isoform X10
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871722   ⟸   XM_017016233
- Peptide Label: isoform X23
- UniProtKB: F8W7U3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317031   ⟸   NM_001330102
- Peptide Label: isoform 3
- UniProtKB: B7ZME8 (UniProtKB/TrEMBL),   E7ESD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303759   ⟸   XM_024447991
- Peptide Label: isoform X26
- Sequence:
Ensembl Acc Id: ENSP00000382277   ⟸   ENST00000399339
Ensembl Acc Id: ENSP00000481763   ⟸   ENST00000611324
Ensembl Acc Id: ENSP00000282633   ⟸   ENST00000282633
Ensembl Acc Id: ENSP00000398095   ⟸   ENST00000454806
Ensembl Acc Id: ENSP00000344037   ⟸   ENST00000351071
Ensembl Acc Id: ENSP00000314417   ⟸   ENST00000314664
Ensembl Acc Id: ENSP00000403781   ⟸   ENST00000434114
RefSeq Acc Id: XP_047281168   ⟸   XM_047425212
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047281170   ⟸   XM_047425214
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047281173   ⟸   XM_047425217
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047281163   ⟸   XM_047425207
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047281167   ⟸   XM_047425211
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047281172   ⟸   XM_047425216
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047281165   ⟸   XM_047425209
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047281169   ⟸   XM_047425213
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047281166   ⟸   XM_047425210
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047281164   ⟸   XM_047425208
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047281162   ⟸   XM_047425206
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047281171   ⟸   XM_047425215
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047281175   ⟸   XM_047425219
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047281176   ⟸   XM_047425220
- Peptide Label: isoform X28
RefSeq Acc Id: XP_047281174   ⟸   XM_047425218
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054221829   ⟸   XM_054365854
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054221846   ⟸   XM_054365871
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054221832   ⟸   XM_054365857
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054221835   ⟸   XM_054365860
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054221841   ⟸   XM_054365866
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054221844   ⟸   XM_054365869
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054221848   ⟸   XM_054365873
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054221828   ⟸   XM_054365853
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054221831   ⟸   XM_054365856
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054221834   ⟸   XM_054365859
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054221840   ⟸   XM_054365865
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054221847   ⟸   XM_054365872
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054221838   ⟸   XM_054365863
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054221843   ⟸   XM_054365868
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054221827   ⟸   XM_054365852
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054221830   ⟸   XM_054365855
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054221839   ⟸   XM_054365864
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054221837   ⟸   XM_054365862
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054221842   ⟸   XM_054365867
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054221833   ⟸   XM_054365858
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054221836   ⟸   XM_054365861
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054221845   ⟸   XM_054365870
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054221851   ⟸   XM_054365876
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054221854   ⟸   XM_054365879
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054221850   ⟸   XM_054365875
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054221849   ⟸   XM_054365874
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054221852   ⟸   XM_054365877
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054221853   ⟸   XM_054365878
- Peptide Label: isoform X27
Protein Domains
FAM21/CAPZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q641Q2-F1-model_v2 AlphaFold Q641Q2 1-1341 view protein structure

Promoters
RGD ID:7217537
Promoter ID:EPDNEW_H14513
Type:initiation region
Name:WASHC2A_1
Description:WASH complex subunit 2A
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
GRCh381050,067,954 - 50,068,014EPDNEW
RGD ID:6787571
Promoter ID:HG_KWN:9570
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000351071,   ENST00000399331,   NM_001005751,   OTTHUMT00000048059,   OTTHUMT00000048063,   UC001JJA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361051,497,464 - 51,497,964 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23416 AgrOrtholog
COSMIC WASHC2A COSMIC
Ensembl Genes ENSG00000099290 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000282633 ENTREZGENE
  ENST00000282633.10 UniProtKB/Swiss-Prot
  ENST00000314664 ENTREZGENE
  ENST00000314664.12 UniProtKB/TrEMBL
  ENST00000351071 ENTREZGENE
  ENST00000351071.11 UniProtKB/Swiss-Prot
  ENST00000399339 ENTREZGENE
  ENST00000399339.6 UniProtKB/TrEMBL
  ENST00000434114.6 UniProtKB/TrEMBL
  ENST00000454806.1 UniProtKB/TrEMBL
  ENST00000611324 ENTREZGENE
  ENST00000611324.4 UniProtKB/TrEMBL
GTEx ENSG00000099290 GTEx
HGNC ID HGNC:23416 ENTREZGENE
Human Proteome Map WASHC2A Human Proteome Map
InterPro FAM21/CAPZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:387680 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene WASHC2A ENTREZGENE
PANTHER CAPZ-INTERACTING PROTEIN AND RELATED PROTEINS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WASH COMPLEX SUBUNIT 2A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAP-ZIP_m UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134902481 PharmGKB
UniProt A0A087WYF6 ENTREZGENE, UniProtKB/TrEMBL
  A2A3S2 ENTREZGENE
  A2A3U6 ENTREZGENE
  B1AP61_HUMAN UniProtKB/TrEMBL
  B7ZME8 ENTREZGENE, UniProtKB/TrEMBL
  E7ESD2 ENTREZGENE, UniProtKB/TrEMBL
  F8W7U3 ENTREZGENE, UniProtKB/TrEMBL
  L8E8F9_HUMAN UniProtKB/TrEMBL
  L8EA22_HUMAN UniProtKB/TrEMBL
  Q5SNT6 ENTREZGENE
  Q5SNT8_HUMAN UniProtKB/TrEMBL
  Q5T1D7_HUMAN UniProtKB/TrEMBL
  Q641Q2 ENTREZGENE
  Q6DHY0 ENTREZGENE
  Q6P0Q7_HUMAN UniProtKB/TrEMBL
  WAC2A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A3S2 UniProtKB/Swiss-Prot
  A2A3U6 UniProtKB/Swiss-Prot
  Q5SNT6 UniProtKB/Swiss-Prot
  Q6DHY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-25 WASHC2A  WASH complex subunit 2A  FAM21A  family with sequence similarity 21 member A  Symbol and/or name change 5135510 APPROVED
2016-04-05 FAM21A  family with sequence similarity 21 member A  FAM21B  family with sequence similarity 21, member B  Data merged from RGD:1352446 737654 PROVISIONAL
2015-11-24 FAM21A  family with sequence similarity 21 member A    family with sequence similarity 21, member A  Symbol and/or name change 5135510 APPROVED