TLCD3B (TLC domain containing 3B)

Gene

• Entrez ID: 83723
• Gene name: TLC domain containing 3B
• Gene symbol: TLCD3B
• Synonyms (NCBI Gene): CORD22, FAM57B, FP1188
• Disease Acronyms (UniProt): CORD22
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcri

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0046513	Process	Ceramide biosynthetic process	IBA	21873635
GO:0050291	Function	Sphingosine N-acyltransferase activity	IBA	21873635
GO:0055088	Process	Lipid homeostasis	IBA	21873635

Other IDs

• MIM: 615175
• HGNC: 25295
• e!Ensembl: ENSG00000149926

Protein

• UniProt ID: Q71RH2
• Protein name: Ceramide synthase (EC 2.3.1.-) (Protein FAM57B) (TLC domain-containing protein 3B)
• Protein function: Involved in ceramide synthesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03798	TRAM_LAG1_CLN8	39 → 254	TLC domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis (PubMed:33077892). Expressed in the retina with higher expression levels in the macular than in the peripheral region (PubMed:33077892). {ECO:0000269|PubMed:33077892}.
• Sequence:

  MLTPMVAGGVVFPGLFLLSKNTLQRLPQLRWEEADAVIVSARLVSSVQAIMASTAGYIVS
  TSCKHIIDDQHWLSSAYTQFAVPYFIYDIYAMFLCHWHKHQVKGHGGDDGAARAPGSTWA
  IARGYLHKEFLMVLHHAAMVLVCFPLSVVWRQGKGDFFLGCMLMAEVSTPFVCLGKILIQ
  YKQQHTLLHKVNGALMLLSFLCCRVLLFPYLYWAYGRHAGLPLLAVPLAIPAHVNLGAAL
  LLAPQLYWFFLICRGACRLFWPRSRPPPACQAQD

• Sequence length: 274

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cone-rod dystrophy	Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749	28041643

Unknown
Disease term	Disease name	Evidence	References	Source
Cone Dystrophy	cone-rod dystrophy			GenCC
Diabetes	Diabetes			GWAS
Schizophrenia	Schizophrenia			GWAS
Insomnia	Insomnia			GWAS