ZFAND2B (zinc finger AN1-type containing 2B) - Rat Genome Database

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Gene: ZFAND2B (zinc finger AN1-type containing 2B) Homo sapiens
Analyze
Symbol: ZFAND2B
Name: zinc finger AN1-type containing 2B
RGD ID: 1602437
HGNC Page HGNC:25206
Description: Enables K48-linked polyubiquitin modification-dependent protein binding activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein targeting to ER. Acts upstream of or within SRP-dependent cotranslational protein targeting to membrane, translocation. Located in proteasome complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIRAP-like protein; AIRAPL; AN1-type zinc finger protein 2B; arsenite inducible RNA associated protein-like; arsenite-inducible RNA-associated protein-like protein; zinc finger, AN1-type 2B; zinc finger, AN1-type domain 2B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,206,782 - 219,209,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,195,237 - 219,209,651 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,071,504 - 220,074,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,779,782 - 219,782,617 (+)NCBINCBI36Build 36hg18NCBI36
Celera2213,841,245 - 213,844,076 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,924,804 - 211,927,670 (+)NCBIHuRef
CHM1_12220,077,341 - 220,080,208 (+)NCBICHM1_1
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Polydactyly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16341674   PMID:17207965   PMID:18467495   PMID:19060904   PMID:19414486   PMID:21873635   PMID:24160817   PMID:24215362  
PMID:24811749   PMID:25416956   PMID:26186194   PMID:26337389   PMID:26598620   PMID:26692333   PMID:26876100   PMID:28190767   PMID:28514442   PMID:30561431   PMID:31515488   PMID:31699778  
PMID:32296183   PMID:33961781   PMID:35563538  


Genomics

Comparative Map Data
ZFAND2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,206,782 - 219,209,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,195,237 - 219,209,651 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,071,504 - 220,074,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,779,782 - 219,782,617 (+)NCBINCBI36Build 36hg18NCBI36
Celera2213,841,245 - 213,844,076 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,924,804 - 211,927,670 (+)NCBIHuRef
CHM1_12220,077,341 - 220,080,208 (+)NCBICHM1_1
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBIT2T-CHM13v2.0
Zfand2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,145,290 - 75,148,270 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,145,290 - 75,148,273 (+)EnsemblGRCm39 Ensembl
GRCm38175,168,646 - 75,171,626 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,168,646 - 75,171,629 (+)EnsemblGRCm38mm10GRCm38
MGSCv37175,165,220 - 75,168,200 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,051,893 - 75,054,772 (+)NCBIMGSCv36mm8
Celera175,659,513 - 75,662,491 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.61NCBI
Zfand2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,114,170 - 84,117,115 (+)NCBIGRCr8
mRatBN7.2976,665,466 - 76,668,447 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,665,546 - 76,668,445 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,110,107 - 85,113,024 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,238,998 - 90,241,915 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,625,211 - 88,628,128 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,370,887 - 82,373,843 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,370,924 - 82,373,839 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,140,181 - 82,143,104 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,451,779 - 74,454,698 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,598,760 - 74,601,680 (+)NCBI
Celera974,235,977 - 74,238,896 (+)NCBICelera
Cytogenetic Map9q33NCBI
Zfand2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,221,002 - 14,225,681 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,222,423 - 14,225,681 (-)NCBIChiLan1.0ChiLan1.0
ZFAND2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,837,231 - 121,840,092 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,852,196 - 121,855,057 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,464,364 - 106,467,217 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,055,835 - 225,058,647 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,055,969 - 225,058,647 (+)Ensemblpanpan1.1panPan2
ZFAND2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,757,454 - 25,760,366 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,757,669 - 25,760,132 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,583,410 - 26,586,262 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,772,748 - 25,775,601 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,772,743 - 25,775,362 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,677,178 - 25,680,023 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,612,271 - 25,615,129 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,633,120 - 25,635,966 (+)NCBIUU_Cfam_GSD_1.0
Zfand2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,282,849 - 175,285,754 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,625,374 - 1,632,642 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,625,712 - 1,628,533 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZFAND2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,243,116 - 121,246,068 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,243,116 - 121,246,075 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,277,894 - 134,280,854 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZFAND2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,110,419 - 105,113,614 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,110,542 - 105,115,481 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,282,967 - 94,286,172 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zfand2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,805,147 - 5,808,485 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,805,147 - 5,808,500 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZFAND2B
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_138802.3(ZFAND2B):c.304C>T (p.Arg102Cys) single nucleotide variant Inborn genetic diseases [RCV003266919] Chr2:219207908 [GRCh38]
Chr2:220072630 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2q35(chr2:220053635-220072431)x0 copy number loss not provided [RCV000740896] Chr2:220053635..220072431 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2q35(chr2:219797684-220088582)x3 copy number gain not provided [RCV001259184] Chr2:219797684..220088582 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_138802.3(ZFAND2B):c.722G>A (p.Arg241Gln) single nucleotide variant Inborn genetic diseases [RCV002682958] Chr2:219209042 [GRCh38]
Chr2:220073764 [GRCh37]
Chr2:2q35		 likely benign
NM_138802.3(ZFAND2B):c.742A>C (p.Ser248Arg) single nucleotide variant Inborn genetic diseases [RCV002840677] Chr2:219209274 [GRCh38]
Chr2:220073996 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.278G>A (p.Arg93His) single nucleotide variant Inborn genetic diseases [RCV002882506] Chr2:219207775 [GRCh38]
Chr2:220072497 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.719A>G (p.Gln240Arg) single nucleotide variant Inborn genetic diseases [RCV002660071] Chr2:219209039 [GRCh38]
Chr2:220073761 [GRCh37]
Chr2:2q35		 likely benign
NM_138802.3(ZFAND2B):c.614C>T (p.Ala205Val) single nucleotide variant Inborn genetic diseases [RCV002660971] Chr2:219208597 [GRCh38]
Chr2:220073319 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.190G>A (p.Val64Met) single nucleotide variant Inborn genetic diseases [RCV002919469] Chr2:219207687 [GRCh38]
Chr2:220072409 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.487A>G (p.Ser163Gly) single nucleotide variant Inborn genetic diseases [RCV002854434] Chr2:219208308 [GRCh38]
Chr2:220073030 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.427C>T (p.Arg143Trp) single nucleotide variant Inborn genetic diseases [RCV002768909] Chr2:219208031 [GRCh38]
Chr2:220072753 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.740G>A (p.Arg247His) single nucleotide variant Inborn genetic diseases [RCV002809988] Chr2:219209272 [GRCh38]
Chr2:220073994 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.293A>G (p.Asn98Ser) single nucleotide variant Inborn genetic diseases [RCV002678027] Chr2:219207897 [GRCh38]
Chr2:220072619 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.61C>A (p.Leu21Met) single nucleotide variant Inborn genetic diseases [RCV003213385] Chr2:219207332 [GRCh38]
Chr2:220072054 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.358C>G (p.Arg120Gly) single nucleotide variant Inborn genetic diseases [RCV003178557] Chr2:219207962 [GRCh38]
Chr2:220072684 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.262C>T (p.Pro88Ser) single nucleotide variant Inborn genetic diseases [RCV003383347] Chr2:219207759 [GRCh38]
Chr2:220072481 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.610C>T (p.Arg204Trp) single nucleotide variant Inborn genetic diseases [RCV003386705] Chr2:219208593 [GRCh38]
Chr2:220073315 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_138802.3(ZFAND2B):c.317G>A (p.Arg106Gln) single nucleotide variant Inborn genetic diseases [RCV003218622] Chr2:219207921 [GRCh38]
Chr2:220072643 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5388
Count of miRNA genes:1058
Interacting mature miRNAs:1293
Transcripts:ENST00000289528, ENST00000409097, ENST00000409206, ENST00000409217, ENST00000409319, ENST00000409336, ENST00000409412, ENST00000409594, ENST00000422255, ENST00000425849, ENST00000436556, ENST00000444522, ENST00000448496, ENST00000464902, ENST00000468301, ENST00000469596, ENST00000475533, ENST00000476713, ENST00000486734, ENST00000489197
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D2S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,517 - 220,074,658UniSTSGRCh37
Build 362219,782,761 - 219,782,902RGDNCBI36
Celera2213,844,223 - 213,844,364RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,927,814 - 211,927,955UniSTS
RH18248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,076 - 220,074,354UniSTSGRCh37
Build 362219,782,320 - 219,782,598RGDNCBI36
Celera2213,843,782 - 213,844,060RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,927,373 - 211,927,651UniSTS
GeneMap99-GB4 RH Map2682.63UniSTS
NCBI RH Map21772.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2419 2456 1704 605 1898 449 3882 1499 3320 377 1418 1591 171 1202 2443 4 1
Low 20 535 22 19 53 16 475 698 414 42 42 22 4 1 2 345 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001270998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE742808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM852092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU195818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289528   ⟹   ENSP00000289528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,782 - 219,209,648 (+)Ensembl
RefSeq Acc Id: ENST00000409097   ⟹   ENSP00000387179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,807 - 219,209,606 (+)Ensembl
RefSeq Acc Id: ENST00000409206   ⟹   ENSP00000386824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,784 - 219,208,900 (+)Ensembl
RefSeq Acc Id: ENST00000409217   ⟹   ENSP00000386370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,815 - 219,208,696 (+)Ensembl
RefSeq Acc Id: ENST00000409319   ⟹   ENSP00000387312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,875 - 219,208,262 (+)Ensembl
RefSeq Acc Id: ENST00000409336   ⟹   ENSP00000386898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,809 - 219,209,418 (+)Ensembl
RefSeq Acc Id: ENST00000409412   ⟹   ENSP00000386847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,807 - 219,208,116 (+)Ensembl
RefSeq Acc Id: ENST00000409594   ⟹   ENSP00000386399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,793 - 219,209,647 (+)Ensembl
RefSeq Acc Id: ENST00000422255   ⟹   ENSP00000409931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,804 - 219,208,540 (+)Ensembl
RefSeq Acc Id: ENST00000425849   ⟹   ENSP00000416138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,208,458 - 219,209,648 (+)Ensembl
RefSeq Acc Id: ENST00000436556   ⟹   ENSP00000400760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,195,237 - 219,207,421 (+)Ensembl
RefSeq Acc Id: ENST00000444522   ⟹   ENSP00000411334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,784 - 219,209,651 (+)Ensembl
RefSeq Acc Id: ENST00000448496   ⟹   ENSP00000388773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,882 - 219,208,861 (+)Ensembl
RefSeq Acc Id: ENST00000464902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,207,085 - 219,209,647 (+)Ensembl
RefSeq Acc Id: ENST00000468301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,848 - 219,208,003 (+)Ensembl
RefSeq Acc Id: ENST00000469596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,207,218 - 219,208,613 (+)Ensembl
RefSeq Acc Id: ENST00000475533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,207,263 - 219,209,494 (+)Ensembl
RefSeq Acc Id: ENST00000476713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,807 - 219,207,776 (+)Ensembl
RefSeq Acc Id: ENST00000486734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,812 - 219,208,875 (+)Ensembl
RefSeq Acc Id: ENST00000489197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,880 - 219,208,018 (+)Ensembl
RefSeq Acc Id: ENST00000621130   ⟹   ENSP00000483320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,206,784 - 219,209,651 (+)Ensembl
RefSeq Acc Id: NM_001270998   ⟹   NP_001257927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,782 - 219,209,648 (+)NCBI
GRCh372220,071,506 - 220,074,373 (+)NCBI
HuRef2211,924,804 - 211,927,670 (+)NCBI
CHM1_12220,077,341 - 220,080,208 (+)NCBI
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270999   ⟹   NP_001257928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,782 - 219,209,648 (+)NCBI
GRCh372220,071,506 - 220,074,373 (+)NCBI
HuRef2211,924,804 - 211,927,670 (+)NCBI
CHM1_12220,077,341 - 220,080,208 (+)NCBI
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138802   ⟹   NP_620157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,782 - 219,209,648 (+)NCBI
GRCh372220,071,506 - 220,074,373 (+)NCBI
Build 362219,779,782 - 219,782,617 (+)NCBI Archive
Celera2213,841,245 - 213,844,076 (+)RGD
HuRef2211,924,804 - 211,927,670 (+)NCBI
CHM1_12220,077,341 - 220,080,208 (+)NCBI
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712285   ⟹   XP_006712348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,782 - 219,209,648 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712286   ⟹   XP_006712349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,782 - 219,209,648 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003368   ⟹   XP_016858857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,782 - 219,209,648 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054340575   ⟹   XP_054196550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBI
RefSeq Acc Id: XM_054340576   ⟹   XP_054196551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBI
RefSeq Acc Id: XM_054340577   ⟹   XP_054196552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,691,549 - 219,694,414 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_620157   ⟸   NM_138802
- Peptide Label: isoform 1
- UniProtKB: Q8NB98 (UniProtKB/Swiss-Prot),   Q8WV99 (UniProtKB/Swiss-Prot),   E9PFU9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257928   ⟸   NM_001270999
- Peptide Label: isoform 2
- UniProtKB: A0A087X0D9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257927   ⟸   NM_001270998
- Peptide Label: isoform 1
- UniProtKB: Q8NB98 (UniProtKB/Swiss-Prot),   Q8WV99 (UniProtKB/Swiss-Prot),   E9PFU9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712348   ⟸   XM_006712285
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006712349   ⟸   XM_006712286
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016858857   ⟸   XM_017003368
- Peptide Label: isoform X2
- UniProtKB: Q8NB98 (UniProtKB/Swiss-Prot),   Q8WV99 (UniProtKB/Swiss-Prot),   E9PFU9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483320   ⟸   ENST00000621130
RefSeq Acc Id: ENSP00000416138   ⟸   ENST00000425849
RefSeq Acc Id: ENSP00000411334   ⟸   ENST00000444522
RefSeq Acc Id: ENSP00000289528   ⟸   ENST00000289528
RefSeq Acc Id: ENSP00000386399   ⟸   ENST00000409594
RefSeq Acc Id: ENSP00000387179   ⟸   ENST00000409097
RefSeq Acc Id: ENSP00000388773   ⟸   ENST00000448496
RefSeq Acc Id: ENSP00000386898   ⟸   ENST00000409336
RefSeq Acc Id: ENSP00000387312   ⟸   ENST00000409319
RefSeq Acc Id: ENSP00000386847   ⟸   ENST00000409412
RefSeq Acc Id: ENSP00000386824   ⟸   ENST00000409206
RefSeq Acc Id: ENSP00000386370   ⟸   ENST00000409217
RefSeq Acc Id: ENSP00000400760   ⟸   ENST00000436556
RefSeq Acc Id: ENSP00000409931   ⟸   ENST00000422255
RefSeq Acc Id: XP_054196552   ⟸   XM_054340577
- Peptide Label: isoform X2
- UniProtKB: Q8WV99 (UniProtKB/Swiss-Prot),   Q8NB98 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196551   ⟸   XM_054340576
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196550   ⟸   XM_054340575
- Peptide Label: isoform X1
Protein Domains
AN1-type   UIM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WV99-F1-model_v2 AlphaFold Q8WV99 1-257 view protein structure

Promoters
RGD ID:6862880
Promoter ID:EPDNEW_H4605
Type:initiation region
Name:ZFAND2B_1
Description:zinc finger AN1-type containing 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4606  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,785 - 219,206,845EPDNEW
RGD ID:6862882
Promoter ID:EPDNEW_H4606
Type:initiation region
Name:ZFAND2B_2
Description:zinc finger AN1-type containing 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4605  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,206,896 - 219,206,956EPDNEW
RGD ID:6797287
Promoter ID:HG_KWN:37323
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409097,   ENST00000409217,   ENST00000409319,   ENST00000409336,   ENST00000409412,   ENST00000409594,   OTTHUMT00000256824,   OTTHUMT00000336069,   OTTHUMT00000336070,   OTTHUMT00000336071,   OTTHUMT00000336074,   OTTHUMT00000336076,   OTTHUMT00000336078,   OTTHUMT00000336079,   OTTHUMT00000336080,   OTTHUMT00000336082,   UC002VJY.1,   UC010FWD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,779,501 - 219,780,372 (+)MPROMDB
RGD ID:6798489
Promoter ID:HG_KWN:37324
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000336081
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,780,476 - 219,781,452 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25206 AgrOrtholog
COSMIC ZFAND2B COSMIC
Ensembl Genes ENSG00000158552 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289528 ENTREZGENE
  ENST00000289528.10 UniProtKB/Swiss-Prot
  ENST00000409097.5 UniProtKB/TrEMBL
  ENST00000409206.5 UniProtKB/Swiss-Prot
  ENST00000409217.5 UniProtKB/TrEMBL
  ENST00000409319.5 UniProtKB/TrEMBL
  ENST00000409336 ENTREZGENE
  ENST00000409336.5 UniProtKB/Swiss-Prot
  ENST00000409412.5 UniProtKB/TrEMBL
  ENST00000409594.5 UniProtKB/Swiss-Prot
  ENST00000422255.5 UniProtKB/TrEMBL
  ENST00000425849.1 UniProtKB/TrEMBL
  ENST00000436556.5 UniProtKB/TrEMBL
  ENST00000444522 ENTREZGENE
  ENST00000444522.6 UniProtKB/Swiss-Prot
  ENST00000448496.5 UniProtKB/TrEMBL
  ENST00000621130 ENTREZGENE
  ENST00000621130.4 UniProtKB/TrEMBL
Gene3D-CATH 4.10.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158552 GTEx
HGNC ID HGNC:25206 ENTREZGENE
Human Proteome Map ZFAND2B Human Proteome Map
InterPro AN1-like_Znf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_AN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:130617 UniProtKB/Swiss-Prot
NCBI Gene 130617 ENTREZGENE
OMIM 613474 OMIM
PANTHER AN1-TYPE ZINC FINGER PROTEIN 2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARSENITE INDUCUBLE RNA ASSOCIATED PROTEIN AIP-1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-AN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670527 PharmGKB
PROSITE UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_AN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_AN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF118310 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0D9 ENTREZGENE, UniProtKB/TrEMBL
  B3KQB0_HUMAN UniProtKB/TrEMBL
  B4DEN4_HUMAN UniProtKB/TrEMBL
  B8ZZ56_HUMAN UniProtKB/TrEMBL
  C9J1R6_HUMAN UniProtKB/TrEMBL
  E7EV05_HUMAN UniProtKB/TrEMBL
  E9PFU9 ENTREZGENE, UniProtKB/TrEMBL
  F8WEE4_HUMAN UniProtKB/TrEMBL
  H7C491_HUMAN UniProtKB/TrEMBL
  Q8NB98 ENTREZGENE
  Q8WV99 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8NB98 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ZFAND2B  zinc finger AN1-type containing 2B  ZFAND2B  zinc finger, AN1-type domain 2B  Symbol and/or name change 5135510 APPROVED