CEA16_HUMAN
ID CEA16_HUMAN Reviewed; 425 AA.
AC Q2WEN9; A7LI12;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-JUN-2012, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Carcinoembryonic antigen-related cell adhesion molecule 16 {ECO:0000305};
DE AltName: Full=Carcinoembryonic antigen-like 2;
DE Flags: Precursor;
GN Name=CEACAM16 {ECO:0000312|HGNC:HGNC:31948}; Synonyms=CEAL2;
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 [GENOMIC DNA].
RA Scorilas A.;
RT "Molecular characterization, cloning, physical mapping, and expression
RT analysis of a novel gene, CEAL2, encoding a carcinoembryonic antigen-like
RT protein which is differentially expressed in different malignancies.";
RL Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Krupar R.F.A., Sunami K., Zimmermann W., Kammerer R.;
RT "Cloning of new carcinoembryonic antigen (CEA) family members.";
RL Submitted (JUL-2007) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP INVOLVEMENT IN DFNA4B, VARIANT DFNA4B PRO-140, FUNCTION, SUBUNIT, AND
RP INTERACTION WITH TECTA.
RX PubMed=21368133; DOI=10.1073/pnas.1005842108;
RA Zheng J., Miller K.K., Yang T., Hildebrand M.S., Shearer A.E., DeLuca A.P.,
RA Scheetz T.E., Drummond J., Scherer S.E., Legan P.K., Goodyear R.J.,
RA Richardson G.P., Cheatham M.A., Smith R.J., Dallos P.;
RT "Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with
RT alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).";
RL Proc. Natl. Acad. Sci. U.S.A. 108:4218-4223(2011).
RN [6]
RP CHARACTERIZATION OF VARIANT DFNA4B ARG-169, FUNCTION, SUBCELLULAR LOCATION,
RP AND SUBUNIT.
RX PubMed=25589040; DOI=10.1038/jhg.2014.114;
RA Wang H., Wang X., He C., Li H., Qing J., Grati M., Hu Z., Li J., Hu Y.,
RA Xia K., Mei L., Wang X., Yu J., Chen H., Jiang L., Liu Y., Men M.,
RA Zhang H., Guan L., Xiao J., Zhang J., Liu X., Feng Y.;
RT "Exome sequencing identifies a novel CEACAM16 mutation associated with
RT autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.";
RL J. Hum. Genet. 60:119-126(2015).
RN [7]
RP INVOLVEMENT IN DFNB113, AND FUNCTION.
RX PubMed=29703829; DOI=10.1136/jmedgenet-2018-105349;
RA Booth K.T., Kahrizi K., Najmabadi H., Azaiez H., Smith R.J.;
RT "Old gene, new phenotype: splice-altering variants in CEACAM16 cause
RT recessive non-syndromic hearing impairment.";
RL J. Med. Genet. 55:555-560(2018).
CC -!- FUNCTION: Required for proper hearing, plays a role in maintaining the
CC integrity of the tectorial membrane. {ECO:0000269|PubMed:21368133,
CC ECO:0000269|PubMed:25589040, ECO:0000269|PubMed:29703829}.
CC -!- SUBUNIT: Homooligomer; can for homodimers and homotetramers
CC (PubMed:21368133, PubMed:25589040). Interacts with TECTA and TECTB
CC (PubMed:21368133). {ECO:0000269|PubMed:21368133,
CC ECO:0000269|PubMed:25589040}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25589040}.
CC Note=Localizes to the tip of cochlear outer hair cells and to the
CC tectorial membrane. {ECO:0000250|UniProtKB:E9QA28}.
CC -!- DISEASE: Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614]: A form
CC of non-syndromic sensorineural hearing loss. Sensorineural deafness
CC results from damage to the neural receptors of the inner ear, the nerve
CC pathways to the brain, or the area of the brain that receives sound
CC information. {ECO:0000269|PubMed:21368133,
CC ECO:0000269|PubMed:25589040}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Deafness, autosomal recessive, 113 (DFNB113) [MIM:618410]: A
CC form of non-syndromic, sensorineural deafness characterized by
CC postlingual progressive hearing impairment. Sensorineural deafness
CC results from damage to the neural receptors of the inner ear, the nerve
CC pathways to the brain, or the area of the brain that receives sound
CC information. {ECO:0000269|PubMed:29703829}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. CEA family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ05841.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AF479646; AAQ05841.1; ALT_SEQ; Genomic_DNA.
DR EMBL; EU021223; ABS52739.1; -; mRNA.
DR EMBL; AC092066; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC144608; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS54278.1; -.
DR RefSeq; NP_001034302.2; NM_001039213.3.
DR AlphaFoldDB; Q2WEN9; -.
DR BioGRID; 132735; 16.
DR STRING; 9606.ENSP00000466561; -.
DR GlyGen; Q2WEN9; 5 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q2WEN9; -.
DR PhosphoSitePlus; Q2WEN9; -.
DR BioMuta; CEACAM16; -.
DR DMDM; 391358127; -.
DR PaxDb; Q2WEN9; -.
DR PeptideAtlas; Q2WEN9; -.
DR PRIDE; Q2WEN9; -.
DR Antibodypedia; 31203; 131 antibodies from 26 providers.
DR DNASU; 388551; -.
DR Ensembl; ENST00000405314.2; ENSP00000385576.1; ENSG00000213892.12.
DR Ensembl; ENST00000587331.7; ENSP00000466561.1; ENSG00000213892.12.
DR GeneID; 388551; -.
DR KEGG; hsa:388551; -.
DR MANE-Select; ENST00000587331.7; ENSP00000466561.1; NM_001039213.4; NP_001034302.2.
DR UCSC; uc060zsz.1; human.
DR CTD; 388551; -.
DR DisGeNET; 388551; -.
DR GeneCards; CEACAM16; -.
DR HGNC; HGNC:31948; CEACAM16.
DR HPA; ENSG00000213892; Tissue enhanced (pancreas).
DR MalaCards; CEACAM16; -.
DR MIM; 614591; gene.
DR MIM; 614614; phenotype.
DR MIM; 618410; phenotype.
DR neXtProt; NX_Q2WEN9; -.
DR OpenTargets; ENSG00000213892; -.
DR Orphanet; 90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA142672131; -.
DR VEuPathDB; HostDB:ENSG00000213892; -.
DR eggNOG; ENOG502S42Z; Eukaryota.
DR GeneTree; ENSGT00960000186634; -.
DR HOGENOM; CLU_024555_2_0_1; -.
DR InParanoid; Q2WEN9; -.
DR OMA; GQDHVNI; -.
DR OrthoDB; 998214at2759; -.
DR PhylomeDB; Q2WEN9; -.
DR PathwayCommons; Q2WEN9; -.
DR BioGRID-ORCS; 388551; 16 hits in 1069 CRISPR screens.
DR ChiTaRS; CEACAM16; human.
DR GenomeRNAi; 388551; -.
DR Pharos; Q2WEN9; Tbio.
DR PRO; PR:Q2WEN9; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q2WEN9; protein.
DR Bgee; ENSG00000213892; Expressed in mucosa of large intestine and 18 other tissues.
DR GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
DR GO; GO:0032426; C:stereocilium tip; ISS:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IDA:UniProtKB.
DR GO; GO:0007605; P:sensory perception of sound; IMP:UniProtKB.
DR Gene3D; 2.60.40.10; -; 4.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR013106; Ig_V-set.
DR Pfam; PF13895; Ig_2; 2.
DR Pfam; PF07686; V-set; 1.
DR SMART; SM00409; IG; 4.
DR SMART; SM00408; IGc2; 2.
DR SUPFAM; SSF48726; SSF48726; 4.
DR PROSITE; PS50835; IG_LIKE; 2.
PE 1: Evidence at protein level;
KW Deafness; Disease variant; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Non-syndromic deafness; Reference proteome; Repeat;
KW Secreted; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..425
FT /note="Carcinoembryonic antigen-related cell adhesion
FT molecule 16"
FT /id="PRO_0000297564"
FT DOMAIN 133..218
FT /note="Ig-like C2-type 1"
FT DOMAIN 223..309
FT /note="Ig-like C2-type 2"
FT CARBOHYD 36
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 216
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 394
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 153..201
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 252..293
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VARIANT 140
FT /note="T -> P (in DFNA4B; dbSNP:rs387907149)"
FT /evidence="ECO:0000269|PubMed:21368133"
FT /id="VAR_067769"
FT VARIANT 169
FT /note="G -> R (in DFNA4B; impairs homooligomerization of
FT the protein; decreases secretion of the protein;
FT dbSNP:rs876661405)"
FT /evidence="ECO:0000269|PubMed:25589040"
FT /id="VAR_072720"
SQ SEQUENCE 425 AA; 45873 MW; 9187F1CFE1C6B959 CRC64;
MALTGYSWLL LSATFLNVGA EISITLEPAQ PSEGDNVTLV VHGLSGELLA YSWYAGPTLS
VSYLVASYIV STGDETPGPA HTGREAVRPD GSLDIQGILP RHSGTYILQT FNRQLQTEVG
YGHVQVHEIL AQPTVLANST ALVERRDTLR LMCSSPSPTA EVRWFFNGGA LPVALRLGLS
PDGRVLARHG IRREEAGAYQ CEVWNPVSVS RSEPINLTVY FGPERVAILQ DSTTRTGCTI
KVDFNTSLTL WCVSRSCPEP EYVWTFNGQA LKNGQDHLNI SSMTAAQEGT YTCIAKNTKT
LLSGSASVVV KLSAAAVATM IVPVPTKPTE GQDVTLTVQG YPKDLLVYAW YRGPASEPNR
LLSQLPSGTW IAGPAHTGRE VGFPNCSLLV QKLNLTDTGR YTLKTVTVQG KTETLEVELQ
VAPLG
