KANK2

Functionⁱ

Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria (PubMed:22371500). Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis (PubMed:22371500). Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway (PubMed:17996375, PubMed:25961457). May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney (PubMed:25961457). Through the Rho signaling pathway may also regulate cell proliferation (By similarity).By similarity5 Publications

GO - Biological processⁱ

apoptotic process Source: UniProtKB-KW
glomerular visceral epithelial cell migration
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25961457
kidney epithelium development
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25961457
negative regulation of cell proliferation
Source: UniProtKB
Inferred from direct assayⁱ
- 17476305
negative regulation of G1/S transition of mitotic cell cycle
Source: UniProtKB
Inferred from direct assayⁱ
- 17476305
negative regulation of intracellular estrogen receptor signaling pathway
Source: UniProtKB
Inferred from direct assayⁱ
- 17476305
negative regulation of programmed cell death
Source: UniProtKB
Inferred from direct assayⁱ
- 22371500
negative regulation of transcription by RNA polymerase II
Source: UniProtKB
Inferred from direct assayⁱ
- 17476305
negative regulation of vitamin D receptor signaling pathway
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 24671081
regulation of Rho protein signal transduction
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25961457

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Apoptosis, Transcription, Transcription regulation

Biological process

Apoptosis, Transcription, Transcription regulation

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: KN motif and ankyrin repeat domain-containing protein 2 Alternative name(s): Ankyrin repeat domain-containing protein 25 Matrix-remodeling-associated protein 3 SRC-1-interacting protein Short name: SIP Short name: SRC-interacting protein Short name: SRC1-interacting protein
Gene namesⁱ	Name:KANK2 Synonyms:ANKRD25, KIAA1518, MXRA3, SIP
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000197256.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:29300 KANK2
MIMⁱ	614610 gene
neXtProtⁱ	NX_Q63ZY3

Keywords - Cellular componentⁱ

Cytoplasm, Mitochondrion

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Palmoplantar keratoderma and woolly hair (PPKWH)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by abnormal thickening of the skin on the palms and soles, in association with woolly scalp hair. Affected individuals manifest a variable degree of striate palmoplantar keratoderma, generally more severe on the soles. Leukonychia is more pronounced on the fingernails than toenails. Scalp hair, body hair, eyebrows, and eyelashes are sparse. The fifth toes show variable degrees of pseudoainhum, ranging from external rotation to a deep sulcus at the digitoplantar fold, accompanied by a bulbous appearance of the distal toe.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_072431	670	A → V in PPKWH. 1 PublicationCorresponds to variant dbSNP:rs606231303EnsemblClinVar.		1

Nephrotic syndrome 16 (NPHS16)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS16 inheritance is autosomal recessive.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_080959	181	S → G in NPHS16; increased interaction with ARHGDIA; loss of function in regulation of the Rho signaling pathway; no effect on cytoplasmic localization; loss of function in podocytes migration. 1 Publication		1
Natural variantⁱVAR_080960	676	S → F in NPHS16; loss of function in regulation of the Rho signaling pathway; no effect on cytoplasmic localization; decreased function in podocytes migration. 1 Publication		1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	510 – 512	SSS → AAA: Impairs phosphorylation; when associated with A-515. 1 Publication		3
Mutagenesisⁱ	515	S → A: Impairs phosphorylation; when associated with 510-A--A-512. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNET More...DisGeNETⁱ	25959
MalaCards human disease database More...MalaCardsⁱ	KANK2
MIMⁱ	616099 phenotype 617783 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000197256
Orphanetⁱ	420686 Woolly hair-palmoplantar keratoderma syndrome
PharmGKBⁱ	PA162392581

Polymorphism and mutation databases

BioMutaⁱ	KANK2
DMDMⁱ	74757262

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000240840	1 – 851	KN motif and ankyrin repeat domain-containing protein 2Add BLAST		851

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	19	PhosphoserineCombined sources	1
Modified residueⁱ	83	PhosphoserineBy similarity	1
Modified residueⁱ	86	PhosphoserineBy similarity	1
Modified residueⁱ	89	PhosphoserineBy similarity	1
Modified residueⁱ	92	PhosphoserineCombined sources	1
Modified residueⁱ	105	Omega-N-methylarginineCombined sources	1
Modified residueⁱ	168	PhosphothreonineBy similarity	1
Modified residueⁱ	323	PhosphoserineCombined sources	1
Modified residueⁱ	329	PhosphothreonineCombined sources	1
Modified residueⁱ	356	PhosphoserineCombined sources	1
Modified residueⁱ	375	PhosphoserineCombined sources	1
Modified residueⁱ	472	PhosphothreonineCombined sources	1
Modified residueⁱ	540	PhosphoserineCombined sources	1
Modified residueⁱ	552	PhosphothreonineCombined sources	1

Post-translational modificationⁱ

Phosphorylated by casein kinase II upon estrogen stimulation (PubMed:17476305). Phosphorylation induces the release by KANK2 of NCOA1 and its translocation to the nucleus where NCOA1 can activate gene transcription (PubMed:17476305).1 Publication

Keywords - PTMⁱ

Methylation, Phosphoprotein

Proteomic databases

EPDⁱ	Q63ZY3
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q63ZY3
PaxDbⁱ	Q63ZY3
PeptideAtlas More...PeptideAtlasⁱ	Q63ZY3
PRIDEⁱ	Q63ZY3
ProteomicsDBⁱ	65901 65902 [Q63ZY3-2] 65903 [Q63ZY3-3]

PTM databases

iPTMnetⁱ	Q63ZY3
PhosphoSitePlusⁱ	Q63ZY3

Expressionⁱ

Tissue specificityⁱ

Strongly expressed in cervix, colon, heart, kidney and lung. Expressed in kidney glomerular podocytes and mesangial cells (at protein level).2 Publications

Gene expression databases

Bgeeⁱ	ENSG00000197256 Expressed in 227 organ(s), highest expression level in lower esophagus
CleanExⁱ	HS_KANK2
ExpressionAtlasⁱ	Q63ZY3 baseline and differential
Genevisibleⁱ	Q63ZY3 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA015643

HPAⁱ

HPA015643

Interactionⁱ

Subunit structureⁱ

Interacts (non-phosphorylated form) with NCOA1; NCOA2 AND NCOA3 (PubMed:17476305). Interacts with AIFM1 (PubMed:22371500). Interacts with ARHGDIA; the interaction is direct and may regulate the interaction of ARHGDIA with RHOA, RAC1 and CDC42 (PubMed:25961457).3 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
ABI3	Q9P2A4	5	EBI-2556193,EBI-742038
AES	Q08117	3	EBI-2556193,EBI-717810
AIFM1	O95831	4	EBI-6244894,EBI-356440
CCDC36	Q8IYA8	5	EBI-2556193,EBI-8638439
CEP70	Q8NHQ1	5	EBI-2556193,EBI-739624
DYNLL1	P63167	5	EBI-2556193,EBI-349105
EIF4E	P06730	5	EBI-2556193,EBI-73440
FHL2	Q14192	5	EBI-2556193,EBI-701903
FOXK2	Q01167	3	EBI-2556193,EBI-2509991
GOLGA2	Q08379	6	EBI-2556193,EBI-618309
GPSM1	Q86YR5-3	3	EBI-2556193,EBI-10261098
KIFC3	Q9BVG8-5	4	EBI-2556193,EBI-14069005
LMO1	P25800	7	EBI-2556193,EBI-8639312
LMO2	P25791	3	EBI-2556193,EBI-739696
LMO4	P61968	5	EBI-2556193,EBI-2798728
MAGEB4	O15481	5	EBI-2556193,EBI-751857
MOB1A	Q9H8S9	5	EBI-2556193,EBI-748229
NCOA1	Q15788	4	EBI-2556193,EBI-455189
RALBP1	Q15311	4	EBI-2556193,EBI-749285
SCNM1	Q9BWG6	4	EBI-2556193,EBI-748391
STAC	Q8WUK8	3	EBI-2556193,EBI-10276615
TXLNA	P40222	5	EBI-2556193,EBI-359793
VPS52	Q8N1B4	3	EBI-2556193,EBI-2799833

Protein-protein interaction databases

BioGridⁱ	117449, 62 interactors
ELMⁱ	Q63ZY3
IntActⁱ	Q63ZY3, 218 interactors
Molecular INTeraction database More...MINTⁱ	Q63ZY3
STRINGⁱ	9606.ENSP00000395650

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	592 – 606	Combined sources	15
Helixⁱ	608 – 610	Combined sources	3
Helixⁱ	613 – 632	Combined sources	20
Helixⁱ	638 – 651	Combined sources	14
Helixⁱ	653 – 660	Combined sources	8
Helixⁱ	670 – 676	Combined sources	7
Helixⁱ	680 – 688	Combined sources	9
Helixⁱ	704 – 707	Combined sources	4
Helixⁱ	708 – 710	Combined sources	3
Helixⁱ	716 – 728	Combined sources	13
Turnⁱ	736 – 738	Combined sources	3
Helixⁱ	742 – 748	Combined sources	7
Helixⁱ	752 – 760	Combined sources	9
Helixⁱ	775 – 782	Combined sources	8
Helixⁱ	785 – 792	Combined sources	8
Helixⁱ	809 – 816	Combined sources	8
Helixⁱ	819 – 828	Combined sources	10

Show more details

3D structure databases

ProteinModelPortalⁱ	Q63ZY3
SMRⁱ	Q63ZY3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	666 – 696	ANK 1Add BLAST	31
Repeatⁱ	700 – 733	ANK 2Add BLAST	34
Repeatⁱ	738 – 767	ANK 3Add BLAST	30
Repeatⁱ	771 – 801	ANK 4Add BLAST	31
Repeatⁱ	805 – 835	ANK 5Add BLAST	31

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1 – 72	Interaction with AIFM11 PublicationAdd BLAST		72
Regionⁱ	669 – 835	Interaction with NCOA11 PublicationAdd BLAST		167

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	183 – 234	Sequence analysisAdd BLAST		52
Coiled coilⁱ	282 – 312	Sequence analysisAdd BLAST		31

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	425 – 428	Poly-Ser		4

Keywords - Domainⁱ

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGⁱ	KOG0514 Eukaryota COG0666 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063448
HOVERGENⁱ	HBG062256
InParanoidⁱ	Q63ZY3
KEGG Orthology (KO) More...KOⁱ	K22808
OMAⁱ	TESEYHE
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0D3F
PhylomeDBⁱ	Q63ZY3
TreeFamⁱ	TF324499

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00204 ANK, 2 hits
Gene3Dⁱ	1.25.40.20, 1 hit
InterProⁱ	View protein in InterPro IPR002110 Ankyrin_rpt IPR020683 Ankyrin_rpt-contain_dom IPR036770 Ankyrin_rpt-contain_sf IPR021939 KN_motif
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF12796 Ank_2, 2 hits PF12075 KN_motif, 1 hit
SMARTⁱ	View protein in SMART SM00248 ANK, 5 hits
SUPFAMⁱ	SSF48403 SSF48403, 1 hit
PROSITEⁱ	View protein in PROSITE PS50297 ANK_REP_REGION, 1 hit PS50088 ANK_REPEAT, 2 hits

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q63ZY3-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQVLHVPAP FPGTPGPASP PAFPAKDPDP PYSVETPYGY RLDLDFLKYV 
        60         70         80         90        100
DDIEKGHTLR RVAVQRRPRL SSLPRGPGSW WTSTESLCSN ASGDSRHSAY 
       110        120        130        140        150
SYCGRGFYPQ YGALETRGGF NPRVERTLLD ARRRLEDQAA TPTGLGSLTP 
       160        170        180        190        200
SAAGSTASLV GVGLPPPTPR SSGLSTPVPP SAGHLAHVRE QMAGALRKLR 
       210        220        230        240        250
QLEEQVKLIP VLQVKLSVLQ EEKRQLTVQL KSQKFLGHPT AGRGRSELCL 
       260        270        280        290        300
DLPDPPEDPV ALETRSVGTW VRERDLGMPD GEAALAAKVA VLETQLKKAL 
       310        320        330        340        350
QELQAAQARQ ADPQPQAWPP PDSPVRVDTV RVVEGPREVE VVASTAAGAP 
       360        370        380        390        400
AQRAQSLEPY GTGLRALAMP GRPESPPVFR SQEVVETMCP VPAAATSNVH 
       410        420        430        440        450
MVKKISITER SCDGAAGLPE VPAESSSSPP GSEVASLTQP EKSTGRVPTQ 
       460        470        480        490        500
EPTHREPTRQ AASQESEEAG GTGGPPAGVR SIMKRKEEVA DPTAHRRSLQ 
       510        520        530        540        550
FVGVNGGYES SSEDSSTAEN ISDNDSTENE APEPRERVPS VAEAPQLRPA 
       560        570        580        590        600
GTAAAKTSRQ ECQLSRESQH IPTAEGASGS NTEEEIRMEL SPDLISACLA 
       610        620        630        640        650
LEKYLDNPNA LTERELKVAY TTVLQEWLRL ACRSDAHPEL VRRHLVTFRA 
       660        670        680        690        700
MSARLLDYVV NIADSNGNTA LHYSVSHANF PVVQQLLDSG VCKVDKQNRA 
       710        720        730        740        750
GYSPIMLTAL ATLKTQDDIE TVLQLFRLGN INAKASQAGQ TALMLAVSHG 
       760        770        780        790        800
RVDVVKALLA CEADVNVQDD DGSTALMCAC EHGHKEIAGL LLAVPSCDIS 
       810        820        830        840        850
LTDRDGSTAL MVALDAGQSE IASMLYSRMN IKCSFAPMSD DESPTSSSAE 

E

Length:851

Mass (Da):91,174

Last modified:October 25, 2004 - v1

Checksum:ⁱC14CD8B937A7B6E8

GO

Isoform 2 (identifier: Q63ZY3-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
472-472: T → TAPPLSSPP

« Hide

        10         20         30         40         50
MAQVLHVPAP FPGTPGPASP PAFPAKDPDP PYSVETPYGY RLDLDFLKYV 
        60         70         80         90        100
DDIEKGHTLR RVAVQRRPRL SSLPRGPGSW WTSTESLCSN ASGDSRHSAY 
       110        120        130        140        150
SYCGRGFYPQ YGALETRGGF NPRVERTLLD ARRRLEDQAA TPTGLGSLTP 
       160        170        180        190        200
SAAGSTASLV GVGLPPPTPR SSGLSTPVPP SAGHLAHVRE QMAGALRKLR 
       210        220        230        240        250
QLEEQVKLIP VLQVKLSVLQ EEKRQLTVQL KSQKFLGHPT AGRGRSELCL 
       260        270        280        290        300
DLPDPPEDPV ALETRSVGTW VRERDLGMPD GEAALAAKVA VLETQLKKAL 
       310        320        330        340        350
QELQAAQARQ ADPQPQAWPP PDSPVRVDTV RVVEGPREVE VVASTAAGAP 
       360        370        380        390        400
AQRAQSLEPY GTGLRALAMP GRPESPPVFR SQEVVETMCP VPAAATSNVH 
       410        420        430        440        450
MVKKISITER SCDGAAGLPE VPAESSSSPP GSEVASLTQP EKSTGRVPTQ 
       460        470        480        490        500
EPTHREPTRQ AASQESEEAG GTAPPLSSPP GGPPAGVRSI MKRKEEVADP 
       510        520        530        540        550
TAHRRSLQFV GVNGGYESSS EDSSTAENIS DNDSTENEAP EPRERVPSVA 
       560        570        580        590        600
EAPQLRPAGT AAAKTSRQEC QLSRESQHIP TAEGASGSNT EEEIRMELSP 
       610        620        630        640        650
DLISACLALE KYLDNPNALT ERELKVAYTT VLQEWLRLAC RSDAHPELVR 
       660        670        680        690        700
RHLVTFRAMS ARLLDYVVNI ADSNGNTALH YSVSHANFPV VQQLLDSGVC 
       710        720        730        740        750
KVDKQNRAGY SPIMLTALAT LKTQDDIETV LQLFRLGNIN AKASQAGQTA 
       760        770        780        790        800
LMLAVSHGRV DVVKALLACE ADVNVQDDDG STALMCACEH GHKEIAGLLL 
       810        820        830        840        850
AVPSCDISLT DRDGSTALMV ALDAGQSEIA SMLYSRMNIK CSFAPMSDDE 

SPTSSSAEE

Note: No experimental confirmation available.

Show »

Length:859

Mass (Da):91,921

Checksum:ⁱ0629BE4E0E29FCEE

GO

Isoform 3 (identifier: Q63ZY3-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
835-841: FAPMSDD → VSLNPAG
842-851: Missing.

« Hide

        10         20         30         40         50
MAQVLHVPAP FPGTPGPASP PAFPAKDPDP PYSVETPYGY RLDLDFLKYV 
        60         70         80         90        100
DDIEKGHTLR RVAVQRRPRL SSLPRGPGSW WTSTESLCSN ASGDSRHSAY 
       110        120        130        140        150
SYCGRGFYPQ YGALETRGGF NPRVERTLLD ARRRLEDQAA TPTGLGSLTP 
       160        170        180        190        200
SAAGSTASLV GVGLPPPTPR SSGLSTPVPP SAGHLAHVRE QMAGALRKLR 
       210        220        230        240        250
QLEEQVKLIP VLQVKLSVLQ EEKRQLTVQL KSQKFLGHPT AGRGRSELCL 
       260        270        280        290        300
DLPDPPEDPV ALETRSVGTW VRERDLGMPD GEAALAAKVA VLETQLKKAL 
       310        320        330        340        350
QELQAAQARQ ADPQPQAWPP PDSPVRVDTV RVVEGPREVE VVASTAAGAP 
       360        370        380        390        400
AQRAQSLEPY GTGLRALAMP GRPESPPVFR SQEVVETMCP VPAAATSNVH 
       410        420        430        440        450
MVKKISITER SCDGAAGLPE VPAESSSSPP GSEVASLTQP EKSTGRVPTQ 
       460        470        480        490        500
EPTHREPTRQ AASQESEEAG GTGGPPAGVR SIMKRKEEVA DPTAHRRSLQ 
       510        520        530        540        550
FVGVNGGYES SSEDSSTAEN ISDNDSTENE APEPRERVPS VAEAPQLRPA 
       560        570        580        590        600
GTAAAKTSRQ ECQLSRESQH IPTAEGASGS NTEEEIRMEL SPDLISACLA 
       610        620        630        640        650
LEKYLDNPNA LTERELKVAY TTVLQEWLRL ACRSDAHPEL VRRHLVTFRA 
       660        670        680        690        700
MSARLLDYVV NIADSNGNTA LHYSVSHANF PVVQQLLDSG VCKVDKQNRA 
       710        720        730        740        750
GYSPIMLTAL ATLKTQDDIE TVLQLFRLGN INAKASQAGQ TALMLAVSHG 
       760        770        780        790        800
RVDVVKALLA CEADVNVQDD DGSTALMCAC EHGHKEIAGL LLAVPSCDIS 
       810        820        830        840 
LTDRDGSTAL MVALDAGQSE IASMLYSRMN IKCSVSLNPA G

Note: No experimental confirmation available.

Show »

Length:841

Mass (Da):90,044

Checksum:ⁱD82155CD26E514F1

GO

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

K7EIU4	K7EIU4_HUMAN	KN motif and ankyrin repeat domain-... KN motif and ankyrin repeat domain-containing protein 2	KANK2	221	Annotation score:
K7ERU2	K7ERU2_HUMAN	KN motif and ankyrin repeat domain-... KN motif and ankyrin repeat domain-containing protein 2	KANK2	122	Annotation score:
K7ES05	K7ES05_HUMAN	KN motif and ankyrin repeat domain-... KN motif and ankyrin repeat domain-containing protein 2	KANK2	147	Annotation score:
K7EL48	K7EL48_HUMAN	KN motif and ankyrin repeat domain-... KN motif and ankyrin repeat domain-containing protein 2	KANK2	44	Annotation score:

Sequence cautionⁱ

The sequence BAA92081 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence BAA96042 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

The sequence BAB14531 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	525	D → N in BAA96042 (PubMed:10819331).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_048304	118	G → S. Corresponds to variant dbSNP:rs755237Ensembl.	1
Natural variantⁱVAR_080959	181	S → G in NPHS16; increased interaction with ARHGDIA; loss of function in regulation of the Rho signaling pathway; no effect on cytoplasmic localization; loss of function in podocytes migration. 1 Publication	1
Natural variantⁱVAR_048305	401	M → T. Corresponds to variant dbSNP:rs17616661Ensembl.	1
Natural variantⁱVAR_072431	670	A → V in PPKWH. 1 PublicationCorresponds to variant dbSNP:rs606231303EnsemblClinVar.	1
Natural variantⁱVAR_080960	676	S → F in NPHS16; loss of function in regulation of the Rho signaling pathway; no effect on cytoplasmic localization; decreased function in podocytes migration. 1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_019427	472	T → TAPPLSSPP in isoform 2. 1 Publication	1
Alternative sequenceⁱVSP_019428	835 – 841	FAPMSDD → VSLNPAG in isoform 3. 1 Publication	7
Alternative sequenceⁱVSP_019429	842 – 851	Missing in isoform 3. 1 Publication	10

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY639929 mRNA Translation: AAT57879.1 AB284125 mRNA Translation: BAG06864.1 AB040951 mRNA Translation: BAA96042.2 Different initiation. CH471106 Genomic DNA Translation: EAW84177.1 BC082762 mRNA Translation: AAH82762.1 BC098105 mRNA Translation: AAH98105.1 BC098286 mRNA Translation: AAH98286.1 BC098312 mRNA Translation: AAH98312.1 BC105989 mRNA Translation: AAI05990.1 AK002094 mRNA Translation: BAA92081.1 Different initiation. AK023332 mRNA Translation: BAB14531.1 Different initiation.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12255.1 [Q63ZY3-1] CCDS54219.1 [Q63ZY3-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001129663.1, NM_001136191.2 [Q63ZY3-1] NP_001316380.1, NM_001329451.1 [Q63ZY3-1] NP_056308.3, NM_015493.6 [Q63ZY3-2]
UniGeneⁱ	Hs.284208 Hs.723365 Hs.744940

Genome annotation databases

Ensemblⁱ	ENST00000586659; ENSP00000465650; ENSG00000197256 [Q63ZY3-1] ENST00000589359; ENSP00000468002; ENSG00000197256 [Q63ZY3-2] ENST00000589894; ENSP00000467029; ENSG00000197256 [Q63ZY3-3]
GeneIDⁱ	25959
KEGGⁱ	hsa:25959
UCSC genome browser More...UCSCⁱ	uc002mqo.5 human [Q63ZY3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q63ZY3	KN motif and ankyrin repeat domains 2		PANTR		868	UniRef90_Q63ZY3
KN motif and ankyrin repeat domain-containing protein 2 (Fragment)		HUMAN		147
Uncharacterized protein		PAPAN		864
KN motif and ankyrin repeat domains 2		CALJA		859
Uncharacterized protein		MACFA		859
+41
Q63ZY3-2	KN motif and ankyrin repeat domain-containing protein 2		BOVIN		858	UniRef90_Q63ZY3-2
KN motif and ankyrin repeat domain-containing protein 2 (Fragment)		HUMAN		122
KN motif and ankyrin repeat domain-containing protein 2 isoform X1		LIPVE		871
Uncharacterized protein		PANPA		868
KN motif and ankyrin repeat domains 2		SHEEP		860
+38

Protein	Similar proteins		Species	Score	Length	Source
Q63ZY3	KN motif and ankyrin repeat domain-containing protein 2		MOUSE		843	UniRef50_Q63ZY3
KN motif and ankyrin repeat domain-containing protein 2		RAT		847
KN motif and ankyrin repeat domain-containing protein 2		BOVIN		858
KN motif and ankyrin repeat domains 2		PANTR		868
KN motif and ankyrin repeat domain-containing protein 2 (Fragment)		HUMAN		147
+183

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY639929 mRNA Translation: AAT57879.1 AB284125 mRNA Translation: BAG06864.1 AB040951 mRNA Translation: BAA96042.2 Different initiation. CH471106 Genomic DNA Translation: EAW84177.1 BC082762 mRNA Translation: AAH82762.1 BC098105 mRNA Translation: AAH98105.1 BC098286 mRNA Translation: AAH98286.1 BC098312 mRNA Translation: AAH98312.1 BC105989 mRNA Translation: AAI05990.1 AK002094 mRNA Translation: BAA92081.1 Different initiation. AK023332 mRNA Translation: BAB14531.1 Different initiation.
CCDSⁱ	CCDS12255.1 [Q63ZY3-1] CCDS54219.1 [Q63ZY3-2]
RefSeqⁱ	NP_001129663.1, NM_001136191.2 [Q63ZY3-1] NP_001316380.1, NM_001329451.1 [Q63ZY3-1] NP_056308.3, NM_015493.6 [Q63ZY3-2]
UniGeneⁱ	Hs.284208 Hs.723365 Hs.744940

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4HBD	X-ray	1.72	A	578-832	[»]
	5YBV	X-ray	2.12	A/B	578-832	[»]
ProteinModelPortalⁱ	Q63ZY3
SMRⁱ	Q63ZY3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	117449, 62 interactors
ELMⁱ	Q63ZY3
IntActⁱ	Q63ZY3, 218 interactors
MINTⁱ	Q63ZY3
STRINGⁱ	9606.ENSP00000395650

PTM databases

iPTMnetⁱ	Q63ZY3
PhosphoSitePlusⁱ	Q63ZY3

Polymorphism and mutation databases

BioMutaⁱ	KANK2
DMDMⁱ	74757262

Proteomic databases

EPDⁱ	Q63ZY3
MaxQBⁱ	Q63ZY3
PaxDbⁱ	Q63ZY3
PeptideAtlasⁱ	Q63ZY3
PRIDEⁱ	Q63ZY3
ProteomicsDBⁱ	65901 65902 [Q63ZY3-2] 65903 [Q63ZY3-3]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000586659; ENSP00000465650; ENSG00000197256 [Q63ZY3-1] ENST00000589359; ENSP00000468002; ENSG00000197256 [Q63ZY3-2] ENST00000589894; ENSP00000467029; ENSG00000197256 [Q63ZY3-3]
GeneIDⁱ	25959
KEGGⁱ	hsa:25959
UCSCⁱ	uc002mqo.5 human [Q63ZY3-1]

Organism-specific databases

CTDⁱ	25959
DisGeNETⁱ	25959
EuPathDBⁱ	HostDB:ENSG00000197256.10
GeneCardsⁱ	KANK2
HGNCⁱ	HGNC:29300 KANK2
HPAⁱ	HPA015643
MalaCardsⁱ	KANK2
MIMⁱ	614610 gene 616099 phenotype 617783 phenotype
neXtProtⁱ	NX_Q63ZY3
OpenTargetsⁱ	ENSG00000197256
Orphanetⁱ	420686 Woolly hair-palmoplantar keratoderma syndrome
PharmGKBⁱ	PA162392581
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0514 Eukaryota COG0666 LUCA
GeneTreeⁱ	ENSGT00530000063448
HOVERGENⁱ	HBG062256
InParanoidⁱ	Q63ZY3
KOⁱ	K22808
OMAⁱ	TESEYHE
OrthoDBⁱ	EOG091G0D3F
PhylomeDBⁱ	Q63ZY3
TreeFamⁱ	TF324499

Miscellaneous databases

ChiTaRSⁱ	KANK2 human
GeneWikiⁱ	ANKRD25
GenomeRNAiⁱ	25959
Protein Ontology More...PROⁱ	PR:Q63ZY3
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000197256 Expressed in 227 organ(s), highest expression level in lower esophagus
CleanExⁱ	HS_KANK2
ExpressionAtlasⁱ	Q63ZY3 baseline and differential
Genevisibleⁱ	Q63ZY3 HS

Family and domain databases

CDDⁱ	cd00204 ANK, 2 hits
Gene3Dⁱ	1.25.40.20, 1 hit
InterProⁱ	View protein in InterPro IPR002110 Ankyrin_rpt IPR020683 Ankyrin_rpt-contain_dom IPR036770 Ankyrin_rpt-contain_sf IPR021939 KN_motif
Pfamⁱ	View protein in Pfam PF12796 Ank_2, 2 hits PF12075 KN_motif, 1 hit
SMARTⁱ	View protein in SMART SM00248 ANK, 5 hits
SUPFAMⁱ	SSF48403 SSF48403, 1 hit
PROSITEⁱ	View protein in PROSITE PS50297 ANK_REP_REGION, 1 hit PS50088 ANK_REPEAT, 2 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	KANK2_HUMAN
Accessionⁱ	Q63ZY3Primary (citable) accession number: Q63ZY3 Secondary accession number(s): B0I1P4 , Q3KQZ3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
	Last sequence update:	October 25, 2004
	Last modified:	November 7, 2018
	This is version 139 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - Q63ZY3 (KANK2_HUMAN)

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KN motif and ankyrin repeat domain-containing protein 2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Other locations

Mitochondrion

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Coiled coil

Compositional bias

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ