CAHM2_HUMAN
ID CAHM2_HUMAN Reviewed; 323 AA.
AC Q9HA72; D3DR94; O95893; Q6ZUV9;
DT 07-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Calcium homeostasis modulator protein 2;
DE AltName: Full=Protein FAM26B;
GN Name=CALHM2; Synonyms=FAM26B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RA Mei G., Yu W., Gibbs R.A.;
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP IDENTIFICATION.
RX PubMed=18585350; DOI=10.1016/j.cell.2008.05.048;
RA Dreses-Werringloer U., Lambert J.-C., Vingtdeux V., Zhao H., Vais H.,
RA Siebert A., Jain A., Koppel J., Rovelet-Lecrux A., Hannequin D.,
RA Pasquier F., Galimberti D., Scarpini E., Mann D., Lendon C., Campion D.,
RA Amouyel P., Davies P., Foskett J.K., Campagne F., Marambaud P.;
RT "A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and
RT Alzheimer's disease risk.";
RL Cell 133:1149-1161(2008).
CC -!- FUNCTION: Pore-forming subunit of a voltage-gated ion channel.
CC {ECO:0000250|UniProtKB:Q8IU99}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9HA72-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9HA72-2; Sequence=VSP_013853, VSP_013854;
CC Name=3;
CC IsoId=Q9HA72-3; Sequence=VSP_013856, VSP_013855;
CC -!- SIMILARITY: Belongs to the CALHM family. {ECO:0000305}.
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DR EMBL; AK022195; BAB13983.1; -; mRNA.
DR EMBL; AK125276; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF131810; AAD20050.1; -; mRNA.
DR EMBL; AL139339; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49634.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49635.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49636.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49637.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49638.1; -; Genomic_DNA.
DR EMBL; BC000039; AAH00039.1; -; mRNA.
DR CCDS; CCDS7549.1; -. [Q9HA72-1]
DR RefSeq; NP_057000.2; NM_015916.4. [Q9HA72-1]
DR RefSeq; XP_006717943.1; XM_006717880.2. [Q9HA72-1]
DR RefSeq; XP_006717946.1; XM_006717883.2. [Q9HA72-1]
DR RefSeq; XP_006717947.1; XM_006717884.3. [Q9HA72-3]
DR RefSeq; XP_011538150.1; XM_011539848.2. [Q9HA72-1]
DR RefSeq; XP_016871795.1; XM_017016306.1. [Q9HA72-1]
DR RefSeq; XP_016871796.1; XM_017016307.1. [Q9HA72-1]
DR RefSeq; XP_016871797.1; XM_017016308.1. [Q9HA72-3]
DR RefSeq; XP_016871798.1; XM_017016309.1. [Q9HA72-3]
DR PDB; 6LMU; EM; 3.40 A; A/B/C/D/E/F/G/H/I/J/K=1-323.
DR PDB; 6LMW; EM; 3.40 A; A/B/C/D/E/F/G/H=213-323.
DR PDB; 6LMX; EM; 3.40 A; A/B/C/D/E/F/G/H/I=213-323.
DR PDB; 6UIV; EM; 3.30 A; A/B/C/D/E/F/G/H/I/J/K=1-323.
DR PDB; 6UIW; EM; 2.70 A; A/B/C/D/E/F/G/H/I/J/K=1-323.
DR PDB; 6UIX; EM; 3.50 A; A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V=1-323.
DR PDB; 6VAI; EM; 3.68 A; A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V=2-323.
DR PDB; 6VAK; EM; 3.48 A; A/B/C/D/E/F/G/H/I/J/K=1-323.
DR PDB; 6VAL; EM; 3.87 A; A/B/C/D/E/F/G/H/I/J/K=7-323.
DR PDBsum; 6LMU; -.
DR PDBsum; 6LMW; -.
DR PDBsum; 6LMX; -.
DR PDBsum; 6UIV; -.
DR PDBsum; 6UIW; -.
DR PDBsum; 6UIX; -.
DR PDBsum; 6VAI; -.
DR PDBsum; 6VAK; -.
DR PDBsum; 6VAL; -.
DR AlphaFoldDB; Q9HA72; -.
DR SMR; Q9HA72; -.
DR BioGRID; 119255; 4.
DR STRING; 9606.ENSP00000260743; -.
DR TCDB; 1.A.84.1.2; the calcium homeostasis modulator ca(2+) channel (calhm-c) family.
DR PhosphoSitePlus; Q9HA72; -.
DR SwissPalm; Q9HA72; -.
DR BioMuta; CALHM2; -.
DR DMDM; 67461081; -.
DR jPOST; Q9HA72; -.
DR MassIVE; Q9HA72; -.
DR PaxDb; Q9HA72; -.
DR PeptideAtlas; Q9HA72; -.
DR PRIDE; Q9HA72; -.
DR ProteomicsDB; 81380; -. [Q9HA72-1]
DR ProteomicsDB; 81381; -. [Q9HA72-2]
DR ProteomicsDB; 81382; -. [Q9HA72-3]
DR Antibodypedia; 18174; 21 antibodies from 12 providers.
DR DNASU; 51063; -.
DR Ensembl; ENST00000260743.10; ENSP00000260743.5; ENSG00000138172.11. [Q9HA72-1]
DR Ensembl; ENST00000369788.7; ENSP00000358803.3; ENSG00000138172.11. [Q9HA72-1]
DR GeneID; 51063; -.
DR KEGG; hsa:51063; -.
DR MANE-Select; ENST00000260743.10; ENSP00000260743.5; NM_015916.5; NP_057000.2.
DR UCSC; uc001kxa.4; human. [Q9HA72-1]
DR CTD; 51063; -.
DR DisGeNET; 51063; -.
DR GeneCards; CALHM2; -.
DR HGNC; HGNC:23493; CALHM2.
DR HPA; ENSG00000138172; Low tissue specificity.
DR MIM; 612235; gene.
DR neXtProt; NX_Q9HA72; -.
DR OpenTargets; ENSG00000138172; -.
DR PharmGKB; PA162380963; -.
DR VEuPathDB; HostDB:ENSG00000138172; -.
DR eggNOG; ENOG502QVU7; Eukaryota.
DR GeneTree; ENSGT01030000234610; -.
DR HOGENOM; CLU_069286_1_0_1; -.
DR InParanoid; Q9HA72; -.
DR OMA; YTCALSE; -.
DR OrthoDB; 833717at2759; -.
DR PhylomeDB; Q9HA72; -.
DR TreeFam; TF329085; -.
DR PathwayCommons; Q9HA72; -.
DR BioGRID-ORCS; 51063; 32 hits in 1060 CRISPR screens.
DR ChiTaRS; CALHM2; human.
DR GenomeRNAi; 51063; -.
DR Pharos; Q9HA72; Tdark.
DR PRO; PR:Q9HA72; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9HA72; protein.
DR Bgee; ENSG00000138172; Expressed in granulocyte and 189 other tissues.
DR Genevisible; Q9HA72; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005261; F:cation channel activity; IBA:GO_Central.
DR GO; GO:0043065; P:positive regulation of apoptotic process; IDA:UniProtKB.
DR InterPro; IPR029569; CALHM.
DR InterPro; IPR029570; CALHM2.
DR PANTHER; PTHR32261; PTHR32261; 1.
DR PANTHER; PTHR32261:SF3; PTHR32261:SF3; 1.
DR Pfam; PF14798; Ca_hom_mod; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Ion channel; Ion transport; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..323
FT /note="Calcium homeostasis modulator protein 2"
FT /id="PRO_0000186720"
FT TRANSMEM 21..41
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 55..75
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 100..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 185..205
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 181..196
FT /note="RYESQLFGWLLIGVVA -> SSLDGCSSAWWPSWCS (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_013856"
FT VAR_SEQ 186..218
FT /note="LFGWLLIGVVAILVFLTKCLKHYCSPLSYRQEA -> VRSCAKGSSSSLVVA
FT GERSGDGLVLKLGLVLRG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013853"
FT VAR_SEQ 197..323
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_013855"
FT VAR_SEQ 219..323
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013854"
FT VARIANT 136
FT /note="V -> G (in dbSNP:rs2232660)"
FT /id="VAR_053084"
FT VARIANT 194
FT /note="V -> M (in dbSNP:rs2232662)"
FT /id="VAR_033924"
FT HELIX 14..19
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 24..41
FT /evidence="ECO:0007829|PDB:6UIW"
FT TURN 50..52
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 53..75
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 77..88
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 89..91
FT /evidence="ECO:0007829|PDB:6LMU"
FT HELIX 96..110
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 112..124
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 126..132
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 133..135
FT /evidence="ECO:0007829|PDB:6UIV"
FT HELIX 138..140
FT /evidence="ECO:0007829|PDB:6UIW"
FT STRAND 150..152
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 153..158
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 160..162
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 167..169
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 170..209
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 214..251
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 258..266
FT /evidence="ECO:0007829|PDB:6UIW"
FT HELIX 275..280
FT /evidence="ECO:0007829|PDB:6UIW"
FT STRAND 288..295
FT /evidence="ECO:0007829|PDB:6LMU"
FT HELIX 298..305
FT /evidence="ECO:0007829|PDB:6UIW"
SQ SEQUENCE 323 AA; 36175 MW; 20A4BC58F6763926 CRC64;
MAALIAENFR FLSLFFKSKD VMIFNGLVAL GTVGSQELFS VVAFHCPCSP ARNYLYGLAA
IGVPALVLFI IGIILNNHTW NLVAECQHRR TKNCSAAPTF LLLSSILGRA AVAPVTWSVI
SLLRGEAYVC ALSEFVDPSS LTAREEHFPS AHATEILARF PCKENPDNLS DFREEVSRRL
RYESQLFGWL LIGVVAILVF LTKCLKHYCS PLSYRQEAYW AQYRANEDQL FQRTAEVHSR
VLAANNVRRF FGFVALNKDD EELIANFPVE GTQPRPQWNA ITGVYLYREN QGLPLYSRLH
KWAQGLAGNG AAPDNVEMAL LPS
