ID   F246C_HUMAN             Reviewed;         240 AA.
AC   P0DSO1;
DT   12-AUG-2020, integrated into UniProtKB/Swiss-Prot.
DT   12-AUG-2020, sequence version 1.
DT   25-MAY-2022, entry version 5.
DE   RecName: Full=Protein FAM246C {ECO:0000305};
GN   Name=FAM246C {ECO:0000312|HGNC:HGNC:54842};
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 GENOMIC DNA].
RX   PubMed=10591208; DOI=10.1038/990031;
RA   Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA   Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA   Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA   Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA   Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA   Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA   Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA   Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA   Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA   Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA   Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA   Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA   Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA   Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA   Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA   Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA   Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA   Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA   Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA   Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA   Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA   Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA   Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA   Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA   Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA   Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA   Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA   Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA   Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA   Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA   Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA   Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA   Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA   McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA   Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA   Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA   Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA   Wright H.;
RT   "The DNA sequence of human chromosome 22.";
RL   Nature 402:489-495(1999).
CC   -!- POLYMORPHISM: There are two variants, that are the most frequent in
CC       population and represented on the reference genome assembly
CC       (GRCh38/hg38). The first variant (rs979651598) has a stop codon instead
CC       of Ser-116, giving rise to truncated form. The variant Ser-116 is rare,
CC       except in populations from non-Finnish European. The second variant has
CC       a stop codon instead of Leu-186, giving rise to truncated form. The
CC       sequence shown is rare and is not represented on the reference genome
CC       assembly (GRCh38/hg38). {ECO:0000305}.
CC   -!- SIMILARITY: Belongs to the FAM246 family. {ECO:0000305}.
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DR   EMBL; AC000095; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   AlphaFoldDB; P0DSO1; -.
DR   MassIVE; P0DSO1; -.
DR   PeptideAtlas; P0DSO1; -.
DR   GeneCards; FAM246C; -.
DR   HGNC; HGNC:54842; FAM246C.
DR   neXtProt; NX_P0DSO1; -.
DR   PRO; PR:P0DSO1; -.
DR   Proteomes; UP000005640; Unplaced.
PE   3: Inferred from homology;
KW   Reference proteome.
FT   CHAIN           1..240
FT                   /note="Protein FAM246C"
FT                   /id="PRO_0000450448"
FT   REGION          1..117
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          161..240
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         116..240
FT                   /note="Missing (in dbSNP:rs979651598)"
FT                   /evidence="ECO:0000305"
FT                   /id="VAR_083575"
FT   VARIANT         186..240
FT                   /note="Missing (in dbSNP:rs1310309275)"
FT                   /evidence="ECO:0000305"
FT                   /id="VAR_083576"
SQ   SEQUENCE   240 AA;  26153 MW;  522094800C94D89E CRC64;
     MAEPGRPWAQ ARSAYRASEV LRRGTGRRRD PGPQSNGPGQ EDARAPGRMA RLRGQLRAEA
     ASRSEVPRLL KLVERAGAGA AGRGREDRRA QPRAPCARYA GSPAAGPPTR RGSWRSASGG
     CRRAWRQCAR SWAPGLRRCA RSFERSWMPC ARCCRRRRPR LPAASPAPSP APRPAARPCR
     GRSAPLAPWS PPPGPQTTPR TAQQNAERTE PRPGRTTRRC QCRLGPRKVA GTEGGRTRAA