Reviewed, UniProtKB/Swiss-Prot Q9GZV1 (ANKR2_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat domain-containing protein 2
Alternative name(s):
    Skeletal muscle ankyrin repeat protein
      Short name=hArpp

Gene names

Name:	ANKRD2
Synonyms:	ARPP

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	360 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play an important role in skeletal muscle hypertrophy.
Subunit structure	Interacts with TTN/titin. Ref.2
Tissue specificity	Expressed in skeletal and cardiac muscles. Found in slow fibers. Also expressed in kidney, but to a lower extent. Ref.1 Ref.6
Sequence similarities	Contains 5 ANK repeats.
Sequence caution	The sequence AK056990 differs from that shown. Reason: Erroneous termination at position 210. Translated as Gln.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	muscle contraction Ref.7 Non-traceable author statement. Source: UniProtKB muscle organ development Ref.1 Non-traceable author statement. Source: UniProtKB
Molecular function	structural constituent of muscle Ref.1 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9GZV1-1)

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.

Isoform 2 (identifier: Q9GZV1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     246-278: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	Ankyrin repeat domain-containing protein 2		PRO_0000066897
Regions
	Repeat	147 – 176	30	ANK 1
	Repeat	180 – 209	30	ANK 2
	Repeat	213 – 242	30	ANK 3
	Repeat	246 – 275	30	ANK 4
	Repeat	279 – 308	30	ANK 5
Natural variations
	Alternative sequence	246 – 278	33	Missing in isoform 2.		VSP_000269
	Natural variant	62	1	A → T: dbSNP rs7094973. Ref.2 Ref.1 Ref.6 Ref.3		VAR_042498
Experimental info
	Sequence conflict	49	1	L → S in CAB99416. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 3. Checksum: E88FC3FA242D0739	FASTA	360	39,859
	10 20 30 40 50 60 MAKAPSWAGV GALAYKAPEA LWPAEAVMDG TMEDSEAVQR ATALIEQRLA QEEENEKLRG 70 80 90 100 110 120 DARQKLPMDL LVLEDEKHHG AQSAALQKVK GQERVRKTSL DLRREIIDVG GIQNLIELRK 130 140 150 160 170 180 KRKQKKRDAL AASHEPPPEP EEITGPVDEE TFLKAAVEGK MKVIEKFLAD GGSADTCDQF 190 200 210 220 230 240 RRTALHRASL EGHMEILEKL LDNGATVDFQ DRLDCTAMHW ACRGGHLEVV KLLQSHGADT 250 260 270 280 290 300 NVRDKLLSTP LHVAVRTGQV EIVEHFLSLG LEINARDREG DTALHDAVRL NRYKIIKLLL 310 320 330 340 350 360 LHGADMMTKN LAGKTPTDLV QLWQADTRHA LEHPEPGAEH NGLEGPNDSG RETPQPVPAQ
	Isoform 2. Checksum: 8F62DAC9B5DB86B4	FASTA	327	36,193
	10 20 30 40 50 60 MAKAPSWAGV GALAYKAPEA LWPAEAVMDG TMEDSEAVQR ATALIEQRLA QEEENEKLRG 70 80 90 100 110 120 DARQKLPMDL LVLEDEKHHG AQSAALQKVK GQERVRKTSL DLRREIIDVG GIQNLIELRK 130 140 150 160 170 180 KRKQKKRDAL AASHEPPPEP EEITGPVDEE TFLKAAVEGK MKVIEKFLAD GGSADTCDQF 190 200 210 220 230 240 RRTALHRASL EGHMEILEKL LDNGATVDFQ DRLDCTAMHW ACRGGHLEVV KLLQSHGADT 250 260 270 280 290 300 NVRDKEGDTA LHDAVRLNRY KIIKLLLLHG ADMMTKNLAG KTPTDLVQLW QADTRHALEH 310 320 PEPGAEHNGL EGPNDSGRET PQPVPAQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of human skeletal muscle Ankrd2." Pallavicini A., Kojic S., Bean C., Vainzof M., Salamon M., Ievolella C., Bortoletto G., Pacchioni B., Zatz M., Lanfranchi G., Faulkner G., Valle G. Biochem. Biophys. Res. Commun. 285:378-386(2001) [PubMed: 11444853] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 25-360 (ISOFORM 1), VARIANT THR-62, TISSUE SPECIFICITY. Tissue: Skeletal muscle.
[2]	"The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules." Miller M.K., Bang M.-L., Witt C.C., Labeit D., Trombitas C., Watanabe K., Granzier H., McElhinny A.S., Gregorio C.C., Labeit S. J. Mol. Biol. 333:951-964(2003) [PubMed: 14583192] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH TTN, VARIANT THR-62. Tissue: Heart.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-62. Tissue: Skeletal muscle.
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Skeletal muscle.
[6]	"Identification of a novel human ankyrin-repeated protein homologous to CARP." Moriyama M., Tsukamoto Y., Fujiwara M., Kondo G., Nakada C., Baba T., Ishiguro N., Miyazaki A., Nakamura K., Hori N., Sato K., Shomori K., Takeuchi K., Satoh H., Mori S., Ito H. Biochem. Biophys. Res. Commun. 285:715-723(2001) [PubMed: 11453652] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 25-360 (ISOFORM 1), TISSUE SPECIFICITY, VARIANT THR-62.
[7]	"Identification of Ankrd2, a novel skeletal muscle gene coding for a stretch-responsive ankyrin-repeat protein." Kemp T.J., Sadusky T.J., Saltisi F., Carey N., Moss J., Yang S.Y., Sassoon D.A., Goldspink G., Coulton G.R. Genomics 66:229-241(2000) [PubMed: 10873377] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 49-150. Tissue: Skeletal muscle.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ304805 mRNA. Translation: CAC19412.1. Different initiation. AJ304804 Genomic DNA. Translation: CAC19411.1. Different initiation. AJ583444 mRNA. Translation: CAE47432.1. Different initiation. AK056990 mRNA. No translation available. AL359388, AL355315 Genomic DNA. Translation: CAI14194.1. Different initiation. AL355315, AL359388 Genomic DNA. Translation: CAI15463.1. Different initiation. BC020817 mRNA. Translation: AAH20817.2. Different initiation. BC107759 mRNA. Translation: AAI07760.1. AB058599 mRNA. Translation: BAB60958.1. Different initiation. AJ249975 mRNA. Translation: CAB99416.1.
IPI	IPI00418217. IPI00514352.
PIR	JC7713.
RefSeq	NP_001123453.1. NP_065082.2.
UniGene	Hs.73708
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9GZV1.
Proteomic databases
PRIDE	Q9GZV1.
Genome annotation databases
Ensembl	ENST00000307518; ENSP00000306163; ENSG00000165887; Homo sapiens. [Genome view]
GeneID	26287.
KEGG	hsa:26287.
UCSC	uc001knw.1. human.
Organism-specific databases
CTD	26287.
GeneCards	GC10P099322.
H-InvDB	HIX0009094.
HGNC	HGNC:495. ANKRD2.
MIM	610734. gene.
PharmGKB	PA24804.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9GZV1.
OMA	DEKHHGA
OrthoDB	EOG9HDWCW
Gene expression databases
ArrayExpress	Q9GZV1.
Bgee	Q9GZV1.
CleanEx	HS_ANKRD2.
Genevestigator	Q9GZV1.
GermOnline	ENSG00000165887. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 4 hits. [Graphical view]
SMART	SM00248. ANK. 5 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	48621.
SOURCE	Search...

Entry information

Entry name

ANKR2_HUMAN

Accession

Primary (citable) accession number: Q9GZV1
Secondary accession number(s): Q3B778 , Q5T456, Q70EZ9, Q8WUD7, Q96MG0, Q9NQC9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2002
Last sequence update:	April 8, 2008
Last modified:	November 24, 2009
This is version 77 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.