Gene
tlcd3ba
- ID
- ZDB-GENE-030131-2046
- Name
- TLC domain containing 3Ba
- Symbol
- tlcd3ba Nomenclature History
- Previous Names
-
- fam57ba
- fb95d07
- wu:fb95d07
- zgc:73225
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable sphingosine N-acyltransferase activity. Acts upstream of or within central nervous system development; eye development; and lipid homeostasis. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in brain; central nervous system; epiphysis; head; and neurons. Human ortholog(s) of this gene implicated in cone-rod dystrophy. Orthologous to human TLCD3B (TLC domain containing 3B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73225 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cone-rod dystrophy 22 | Alliance | Cone-rod dystrophy 22 | 619531 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | TLC domain-containing | TRAM/LAG1/CLN8 homology domain |
|---|---|---|---|
|
UniProtKB:X1WH51
|
193 | ||
|
UniProtKB:A0A8M2BB48
|
161 | ||
|
UniProtKB:Q6PBV7
|
242 | ||
|
UniProtKB:A0A8M2BBE5
|
292 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
fam57ba-202
(1)
|
Ensembl | 745 nt | ||
| mRNA |
fam57ba-203
(1)
|
Ensembl | 923 nt | ||
| mRNA |
fam57ba-204
(1)
|
Ensembl | 886 nt | ||
| mRNA |
fam57ba-205
(1)
|
Ensembl | 911 nt | ||
| mRNA |
fam57ba-206
(1)
|
Ensembl | 891 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-22A24 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-84K19 | ZFIN Curated Data | |
| Encodes | EST | fb95d07 | ||
| Encodes | cDNA | MGC:73225 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001430856 (1) | 2969 nt | ||
| Genomic | GenBank:BX936284 (1) | 224666 nt | ||
| Polypeptide | UniProtKB:A0A8M2BBE5 (1) | 292 aa |
- Tomasello, D.L., Kim, J.L., Khodour, Y., McCammon, J.M., Mitalipova, M., Jaenisch, R., Futerman, A.H., Sive, H. (2021) 16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis. iScience. 25:103551
- McCammon, J.M., Blaker-Lee, A., Chen, X., Sive, H. (2017) The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes. Human molecular genetics. 26:3699-3712
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Blaker-Lee, A., Gupta, S., McCammon, J.M., De Rienzo, G., and Sive, H. (2012) Zebrafish homologs of 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Disease models & mechanisms. 5(6):834-851
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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