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Q9HA72

- CAHM2_HUMAN

UniProt

Q9HA72 - CAHM2_HUMAN

Protein

Calcium homeostasis modulator protein 2

Gene

CALHM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Pore-forming subunit of a voltage-gated ion channel.By similarity

    GO - Biological processi

    1. ion transport Source: UniProtKB-KW

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Protein family/group databases

    TCDBi1.A.84.1.2. the calcium homeostasis modulator ca(2+) channel (calhm-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Calcium homeostasis modulator protein 2
    Alternative name(s):
    Protein FAM26B
    Gene namesi
    Name:CALHM2
    Synonyms:FAM26B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23493. CALHM2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162380963.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 323323Calcium homeostasis modulator protein 2PRO_0000186720Add
    BLAST

    Proteomic databases

    PaxDbiQ9HA72.
    PRIDEiQ9HA72.

    Expressioni

    Gene expression databases

    BgeeiQ9HA72.
    CleanExiHS_CALHM2.
    GenevestigatoriQ9HA72.

    Organism-specific databases

    HPAiHPA014706.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000260743.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HA72.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei55 – 7521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei185 – 20521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FAM26 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG68441.
    HOGENOMiHOG000294134.
    HOVERGENiHBG057802.
    InParanoidiQ9HA72.
    OMAiQEAYWAQ.
    OrthoDBiEOG7J4474.
    PhylomeDBiQ9HA72.
    TreeFamiTF329085.

    Family and domain databases

    InterProiIPR029570. CALHM2.
    IPR029569. FAM26.
    [Graphical view]
    PANTHERiPTHR32261. PTHR32261. 1 hit.
    PTHR32261:SF3. PTHR32261:SF3. 1 hit.
    PfamiPF14798. Ca_hom_mod. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HA72-1) [UniParc]FASTAAdd 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

    MAALIAENFR FLSLFFKSKD VMIFNGLVAL GTVGSQELFS VVAFHCPCSP    50
    ARNYLYGLAA IGVPALVLFI IGIILNNHTW NLVAECQHRR TKNCSAAPTF 100
    LLLSSILGRA AVAPVTWSVI SLLRGEAYVC ALSEFVDPSS LTAREEHFPS 150
    AHATEILARF PCKENPDNLS DFREEVSRRL RYESQLFGWL LIGVVAILVF 200
    LTKCLKHYCS PLSYRQEAYW AQYRANEDQL FQRTAEVHSR VLAANNVRRF 250
    FGFVALNKDD EELIANFPVE GTQPRPQWNA ITGVYLYREN QGLPLYSRLH 300
    KWAQGLAGNG AAPDNVEMAL LPS 323
    Length:323
    Mass (Da):36,175
    Last modified:March 1, 2001 - v1
    Checksum:i20A4BC58F6763926
    GO
    Isoform 2 (identifier: Q9HA72-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         186-218: LFGWLLIGVVAILVFLTKCLKHYCSPLSYRQEA → VRSCAKGSSSSLVVAGERSGDGLVLKLGLVLRG
         219-323: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:218
    Mass (Da):23,718
    Checksum:i569EBDD40662D5D5
    GO
    Isoform 3 (identifier: Q9HA72-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         181-196: RYESQLFGWLLIGVVA → SSLDGCSSAWWPSWCS
         197-323: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:196
    Mass (Da):21,542
    Checksum:i1523996B86D6DA74
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti136 – 1361V → G.
    Corresponds to variant rs2232660 [ dbSNP | Ensembl ].
    VAR_053084
    Natural varianti194 – 1941V → M.
    Corresponds to variant rs2232662 [ dbSNP | Ensembl ].
    VAR_033924

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei181 – 19616RYESQ…IGVVA → SSLDGCSSAWWPSWCS in isoform 3. 1 PublicationVSP_013856Add
    BLAST
    Alternative sequencei186 – 21833LFGWL…YRQEA → VRSCAKGSSSSLVVAGERSG DGLVLKLGLVLRG in isoform 2. 1 PublicationVSP_013853Add
    BLAST
    Alternative sequencei197 – 323127Missing in isoform 3. 1 PublicationVSP_013855Add
    BLAST
    Alternative sequencei219 – 323105Missing in isoform 2. 1 PublicationVSP_013854Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022195 mRNA. Translation: BAB13983.1.
    AK125276 mRNA. No translation available.
    AF131810 mRNA. Translation: AAD20050.1.
    AL139339 Genomic DNA. Translation: CAH71483.1.
    CH471066 Genomic DNA. Translation: EAW49634.1.
    CH471066 Genomic DNA. Translation: EAW49635.1.
    CH471066 Genomic DNA. Translation: EAW49636.1.
    CH471066 Genomic DNA. Translation: EAW49637.1.
    CH471066 Genomic DNA. Translation: EAW49638.1.
    BC000039 mRNA. Translation: AAH00039.1.
    CCDSiCCDS7549.1. [Q9HA72-1]
    RefSeqiNP_057000.2. NM_015916.4. [Q9HA72-1]
    XP_006717940.1. XM_006717877.1. [Q9HA72-1]
    XP_006717941.1. XM_006717878.1. [Q9HA72-1]
    XP_006717942.1. XM_006717879.1. [Q9HA72-1]
    XP_006717943.1. XM_006717880.1. [Q9HA72-1]
    XP_006717944.1. XM_006717881.1. [Q9HA72-1]
    XP_006717945.1. XM_006717882.1. [Q9HA72-1]
    XP_006717946.1. XM_006717883.1. [Q9HA72-1]
    XP_006717947.1. XM_006717884.1. [Q9HA72-3]
    UniGeneiHs.241545.

    Genome annotation databases

    EnsembliENST00000260743; ENSP00000260743; ENSG00000138172. [Q9HA72-1]
    ENST00000369788; ENSP00000358803; ENSG00000138172. [Q9HA72-1]
    GeneIDi51063.
    KEGGihsa:51063.
    UCSCiuc001kxa.3. human. [Q9HA72-1]
    uc001kxc.3. human. [Q9HA72-3]
    uc001kxd.1. human. [Q9HA72-2]

    Polymorphism databases

    DMDMi67461081.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022195 mRNA. Translation: BAB13983.1 .
    AK125276 mRNA. No translation available.
    AF131810 mRNA. Translation: AAD20050.1 .
    AL139339 Genomic DNA. Translation: CAH71483.1 .
    CH471066 Genomic DNA. Translation: EAW49634.1 .
    CH471066 Genomic DNA. Translation: EAW49635.1 .
    CH471066 Genomic DNA. Translation: EAW49636.1 .
    CH471066 Genomic DNA. Translation: EAW49637.1 .
    CH471066 Genomic DNA. Translation: EAW49638.1 .
    BC000039 mRNA. Translation: AAH00039.1 .
    CCDSi CCDS7549.1. [Q9HA72-1 ]
    RefSeqi NP_057000.2. NM_015916.4. [Q9HA72-1 ]
    XP_006717940.1. XM_006717877.1. [Q9HA72-1 ]
    XP_006717941.1. XM_006717878.1. [Q9HA72-1 ]
    XP_006717942.1. XM_006717879.1. [Q9HA72-1 ]
    XP_006717943.1. XM_006717880.1. [Q9HA72-1 ]
    XP_006717944.1. XM_006717881.1. [Q9HA72-1 ]
    XP_006717945.1. XM_006717882.1. [Q9HA72-1 ]
    XP_006717946.1. XM_006717883.1. [Q9HA72-1 ]
    XP_006717947.1. XM_006717884.1. [Q9HA72-3 ]
    UniGenei Hs.241545.

    3D structure databases

    ProteinModelPortali Q9HA72.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000260743.

    Protein family/group databases

    TCDBi 1.A.84.1.2. the calcium homeostasis modulator ca(2+) channel (calhm-c) family.

    Polymorphism databases

    DMDMi 67461081.

    Proteomic databases

    PaxDbi Q9HA72.
    PRIDEi Q9HA72.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260743 ; ENSP00000260743 ; ENSG00000138172 . [Q9HA72-1 ]
    ENST00000369788 ; ENSP00000358803 ; ENSG00000138172 . [Q9HA72-1 ]
    GeneIDi 51063.
    KEGGi hsa:51063.
    UCSCi uc001kxa.3. human. [Q9HA72-1 ]
    uc001kxc.3. human. [Q9HA72-3 ]
    uc001kxd.1. human. [Q9HA72-2 ]

    Organism-specific databases

    CTDi 51063.
    GeneCardsi GC10M105206.
    HGNCi HGNC:23493. CALHM2.
    HPAi HPA014706.
    MIMi 612235. gene.
    neXtProti NX_Q9HA72.
    PharmGKBi PA162380963.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68441.
    HOGENOMi HOG000294134.
    HOVERGENi HBG057802.
    InParanoidi Q9HA72.
    OMAi QEAYWAQ.
    OrthoDBi EOG7J4474.
    PhylomeDBi Q9HA72.
    TreeFami TF329085.

    Miscellaneous databases

    ChiTaRSi CALHM2. human.
    GenomeRNAii 51063.
    NextBioi 53655.
    PROi Q9HA72.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9HA72.
    CleanExi HS_CALHM2.
    Genevestigatori Q9HA72.

    Family and domain databases

    InterProi IPR029570. CALHM2.
    IPR029569. FAM26.
    [Graphical view ]
    PANTHERi PTHR32261. PTHR32261. 1 hit.
    PTHR32261:SF3. PTHR32261:SF3. 1 hit.
    Pfami PF14798. Ca_hom_mod. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    2. Mei G., Yu W., Gibbs R.A.
      Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    3. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    6. Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiCAHM2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HA72
    Secondary accession number(s): D3DR94, O95893, Q6ZUV9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2005
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 98 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3