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ANKRD36B Gene

protein-coding   GIFtS: 39
GCID: GC02M098108

Ankyrin Repeat Domain 36B

(Previous name: KIAA1641)
(Previous symbol: KIAA1641)
  See ANKRD36B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ankyrin Repeat Domain 36B1 2
CLL-Associated Antigen KW-11 2 3
KIAA16411 2
Melanoma-Associated Antigen1 2
Ankyrin Repeat Domain-Containing Protein 36B2

External Ids:    HGNC: 293331   Entrez Gene: 577302   Ensembl: ENSG000001969127   UniProtKB: Q8N2N93   

Export aliases for ANKRD36B gene to outside databases

Previous GC identifer: GC02M097466


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ANKRD36B Gene:
ANKRD36B (ankyrin repeat domain 36B) is a protein-coding gene. Diseases associated with ANKRD36B include acral lentiginous melanoma, and melanoma.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD36B gene promoter:
         HOXA9   HOXA9B   C/EBPbeta   Pbx1a   ATF-2   YY1   Meis-1a   MRF-2   Meis-1   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD36B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11.2   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2

ANKRD36B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD36B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M098108:  view genomic region     (about GC identifiers)

Start:
98,108,978 bp from pter      End:
98,206,428 bp from pter
Size:
97,451 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AN36B_HUMAN, Q8N2N9 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 36B  
Size: 1353 amino acids; 153582 Da
Sequence caution: Sequence=AAI25133.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI25134.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAL99915.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB15039.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAB71081.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: Q08AK5 Q6IPR0 Q6PI49 Q8IZM7 Q8TDH6 Q96N30 Q9H759
Alternative splicing: 4 isoforms:  Q8N2N9-1   Q8N2N9-2   Q8N2N9-3   Q8N2N9-4   

Explore the universe of human proteins at neXtProt for ANKRD36B: NX_Q8N2N9

Explore proteomics data for ANKRD36B at MOPED


See ANKRD36B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_079466.3  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ANKRD: Ankyrin repeat domain containing

2 InterPro protein domains:
 IPR002110 Ankyrin_rpt
 IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry Q8N2N9

ProtoNet protein and cluster: Q8N2N9

1 Blocks protein domain: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: AN36B_HUMAN, Q8N2N9
Similarity: Belongs to the ANKRD36 family
Similarity: Contains 6 ANK repeats


Find genes that share domains with ANKRD36B           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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  --

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKRD36B
Interactions:

    Search GeneGlobe Interaction Network for ANKRD36B

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ANKRD36B (AN36B)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ANKRD36B gene (2 alternative transcripts): 
NM_025190.3  NM_020970.1  

Unigene Cluster for ANKRD36B:

Ankyrin repeat domain 36B
Hs.532921  [show with all ESTs]
Unigene Representative Sequence: NM_025190
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000497329 ENST00000488634 ENST00000359901 ENST00000443455 ENST00000419390
ENST00000377003(uc010yve.1 uc010fif.2) ENST00000258459(uc010yvc.1)
ENST00000438709(uc010fid.1 uc002sxx.1) ENST00000447597(uc010yvd.1)

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Additional mRNA sequence: 

AF432208.1 AF432209.1 AK024934.1 AK056042.1 BC017427.1 BC031883.2 BC038460.1 BC044844.2 
BC125132.1 BC125133.1 XR_112366.1 

14 DOTS entries:

DT.95369247  DT.305987  DT.95347420  DT.75117740  DT.95287589  DT.120937340  DT.121013063  DT.121013086 
DT.40209136  DT.97839745  DT.120937419  DT.91697903  DT.120993082  DT.121013064 

20 AceView cDNA sequences:

AI364625 AL036373 AI951295 AF543495 AK056042 AW383743 AK090926 BF512258 
AW383746 AI884470 BC038460 AF432208 BX478426 AI589943 AI004183 BX499421 
AA776913 BM470429 AA347914 AA527528 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ANKRD36B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAATACTTGA
ANKRD36B Expression
About this image

ANKRD36B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ANKRD36B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.532921
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for ANKRD36B gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD36B1 ankyrin repeat domain 36B 97.89(n)
95.95(a)
  741694  XM_003949859.1  XP_003949908.1 


ENSEMBL Gene Tree for ANKRD36B (if available)
TreeFam Gene Tree for ANKRD36B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ANKRD36B gene
Selected SIMAP similar genes for ANKRD36B using alignment to 4 protein entries:     AN36B_HUMAN (see all proteins) (see all similar genes):
ANKRD36C    ANKRD36    ANKRD36BP1    ANKRD19P    ANKRD20A5P    ANKRD30BL
LOC254750    ANKRD7    POTEF    POTEG    DKFZp781D1722    POTEM
POTEA    POTEB    PRED4    PSMD10    MGC26718    ANKRD26

Find genes that share paralogs with ANKRD36B           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ANKRD36B (see all 1820)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs760667881,2
F--97784627(+) CCAACC/ATTTTA 2 /R /M mis12Minor allele frequency- A:0.50NA 6
rs2011902681,2
C--97785180(+) TGCCTA/GCTCTC 2 S syn10--------
rs2009901591,2
C--97785252(+) CCACTA/GTAACA 2 Y syn10--------
rs2004464331,2
C--97785472(+) CCTAAA/GTAAAA 1 -- int10--------
rs2011933191,2
C--97785483(+) CAAAGA/CAAACT 1 -- int10--------
rs1998471361,2
C--97785526(+) GATTGC/TTTCTG 1 -- int10--------
rs1996534601,2
C--97785840(+) TCCCTA/GTAGTG 1 -- int10--------
rs2009309531,2
C--97785865(+) GCAGAC/TATTTG 1 -- int10--------
rs2016356121,2
C--97785904(+) TTAAGC/TTCCCT 1 -- int10--------
rs780482641,2
C--97785951(+) ATATTG/TTTATG 1 -- int10--------

HapMap Linkage Disequilibrium report for ANKRD36B (98108978 - 98206428 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for ANKRD36B (see all 24):    About this table    
Variant IDTypeSubtypePubMed ID
dgv721e199CNV Deletion23128226
esv2422044CNV Deletion20811451
esv2720423CNV Deletion23290073
dgv650e201CNV Deletion23290073
nsv820699CNV Deletion20802225
esv2662364CNV Deletion23128226
nsv508852CNV Insertion20534489
esv998247CNV Insertion20482838
nsv2836CNV Insertion18451855
dgv4250n71CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for ANKRD36B:    
About MalaCards
acral lentiginous melanoma    melanoma


Find genes that share disorders with ANKRD36B           About GenesLikeMe

4 Novoseek inferred disease relationships for ANKRD36B gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
melanoma 78 62 1760821 (2), 11188931 (2), 15971113 (2), 8199106 (1) (see all 38)
ocular melanoma 60.4 1 2203468 (1)
mimicry 54.5 4 1933867 (1), 7829240 (1), 8361995 (1), 9816036 (1)
tumors 26.1 4 1760821 (1), 16407841 (1), 1694058 (1), 15578703 (1)


Export disorders for ANKRD36B gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ANKRD36B gene, integrated from 10 sources (see all 53):
(articles sorted by number of sources associating them with ANKRD36B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 3 Nagase T.... Ohara O. (DNA Res. 2000)
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107410)1 Wistow G.... Peterson K. (Mol. Vis. 2002)
  8. Immunotherapy of melanoma: peptide mimics of a human high molecular weight-melanoma associated antigen. (PubMed id 11188931)9 Wang X....Ferrone S. (Medicina (B Aires) 2000)
  9. Human high molecular weight-melanoma associated antigen mimicry by mouse anti-idiotypic monoclonal antibodies MK2-23. Experimental studies and clinical trials in patients with malignant melanoma. (PubMed id 8361995)9 Ferrone S....Mittelman A. (amp 1993)
  10. Regression of human melanoma xenografts in nude mice injected with methotrexate linked to monoclonal antibody 225.28 to human high molecular weight-melanoma associated antigen. (PubMed id 1760821)9 Ghose T....Mammen M. (Cancer Immunol. Immunother. 1991)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57730 HGNC: 29333 AceView: KIAA1641.1 Ensembl:ENSG00000196912 euGenes: HUgn57730
ECgene: ANKRD36B H-InvDB: ANKRD36B

(According to HUGE)
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HUGE: KIAA1641

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ANKRD36B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ANKRD36B gene:
Search GeneIP for patents involving ANKRD36B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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