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TLCD3B TLC domain containing 3B [ Homo sapiens (human) ]

Gene ID: 83723, updated on 22-Sep-2022

Summary

Official Symbol
TLCD3Bprovided by HGNC
Official Full Name
TLC domain containing 3Bprovided by HGNC
Primary source
HGNC:HGNC:25295
See related
Ensembl:ENSG00000149926 MIM:615175; AllianceGenome:HGNC:25295
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CORD22; FAM57B; FP1188
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 transcript variants. [provided by RefSeq, Jan 2016]
Expression
Restricted expression toward testis (RPKM 12.4) See more
Orthologs
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Try the new Transcript table

Genomic context

See TLCD3B in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30024427..30053040, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30307060..30319164, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30035748..30047851, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene HIRA interacting protein 3 Neighboring gene INO80 complex subunit E Neighboring gene double C2 domain alpha Neighboring gene chromosome 16 open reading frame 92 Neighboring gene uncharaterized LOC112694756 Neighboring gene aldolase, fructose-bisphosphate A Neighboring gene protein phosphatase 4 catalytic subunit

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Cone-rod dystrophy 22
MedGen: C5561989 OMIM: 619531 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40208, DKFZp434I2117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sphingosine N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ceramide synthase
Names
TLC domain 3B
TLC domain ceramide synthase 3B
TLC domain-containing protein 3B
epididymis secretory sperm binding protein
family with sequence similarity 57 member B
protein FAM57B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001318504.2NP_001305433.1  ceramide synthase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL136777, BM676198
    Consensus CDS
    CCDS81967.1
    UniProtKB/Swiss-Prot
    Q71RH2
    Related
    ENSP00000279389.4, ENST00000279389.8
    Conserved Domains (1) summary
    smart00724
    Location:15211
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. NM_001352173.2NP_001339102.1  ceramide synthase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC093512
    Conserved Domains (1) summary
    smart00724
    Location:126347
    TLC; TRAM, LAG1 and CLN8 homology domains
  3. NM_031478.6NP_113666.2  ceramide synthase isoform 1

    See identical proteins and their annotated locations for NP_113666.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.
    Source sequence(s)
    AB593089, AC093512, AL535138, BM676198, BQ185065
    Consensus CDS
    CCDS10667.2
    UniProtKB/Swiss-Prot
    Q71RH2, Q9H0J1
    UniProtKB/TrEMBL
    F1T0F5
    Related
    ENSP00000369863.4, ENST00000380495.9
    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    30024427..30053040 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434736.1XP_047290692.1  ceramide synthase isoform X2

  2. XM_005255614.4XP_005255671.1  ceramide synthase isoform X2

    See identical proteins and their annotated locations for XP_005255671.1

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  3. XM_017023752.2XP_016879241.1  ceramide synthase isoform X2

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  4. XM_005255613.4XP_005255670.1  ceramide synthase isoform X2

    See identical proteins and their annotated locations for XP_005255670.1

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  5. XM_017023751.2XP_016879240.1  ceramide synthase isoform X2

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  6. XM_017023750.3XP_016879239.1  ceramide synthase isoform X2

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  7. XM_024450464.2XP_024306232.1  ceramide synthase isoform X1

    Conserved Domains (1) summary
    smart00724
    Location:75296
    TLC; TRAM, LAG1 and CLN8 homology domains
  8. XM_024450466.2XP_024306234.1  ceramide synthase isoform X3

    Conserved Domains (1) summary
    smart00724
    Location:15211
    TLC; TRAM, LAG1 and CLN8 homology domains
  9. XM_017023754.2XP_016879243.1  ceramide synthase isoform X3

    UniProtKB/Swiss-Prot
    Q71RH2
    Conserved Domains (1) summary
    smart00724
    Location:15211
    TLC; TRAM, LAG1 and CLN8 homology domains

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    30307060..30319164 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)