ABCB6
ATP binding cassette subfamily B member 6 (LAN blood group) | EST45597, MTABC3, umat

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]

Developmental clusters: GC2
Biological processes 73 terms
ABC-type heme transporter activity (GO:0015439)ABC-type heme transporter activity (GO:0015439)ABC-type heme transporter activity (GO:0015439)ABC-type heme transporter activity (GO:0015439)ABC-type transporter activity (GO:0140359)ABC-type transporter activity (GO:0140359)ABC-type transporter activity (GO:0140359)ABC-type transporter activity (GO:0140359)ATP binding (GO:0005524)ATP binding (GO:0005524)ATP hydrolysis activity (GO:0016887)ATP hydrolysis activity (GO:0016887)ATP-binding cassette (ABC) transporter complex (GO:0043190)Golgi apparatus (GO:0005794)Golgi membrane (GO:0000139)brain development (GO:0007420)cellular detoxification of cadmium ion (GO:0098849)early endosome membrane (GO:0031901)early endosome membrane (GO:0031901)efflux transmembrane transporter activity (GO:0015562)endolysosome membrane (GO:0036020)endolysosome membrane (GO:0036020)endoplasmic reticulum (GO:0005783)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endosome (GO:0005768)endosome (GO:0005768)endosome membrane (GO:0010008)extracellular exosome (GO:0070062)extracellular exosome (GO:0070062)extracellular exosome (GO:0070062)extracellular region (GO:0005576)heme B biosynthetic process (GO:0006785)heme binding (GO:0020037)heme binding (GO:0020037)heme metabolic process (GO:0042168)heme transmembrane transport (GO:0035351)heme transmembrane transporter activity (GO:0015232)heme transport (GO:0015886)heme transport (GO:0015886)heme transport (GO:0015886)intracellular copper ion homeostasis (GO:0006878)intracellular copper ion homeostasis (GO:0006878)intracellular iron ion homeostasis (GO:0006879)iron ion transmembrane transport (GO:0034755)late endosome membrane (GO:0031902)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)melanosome assembly (GO:1903232)melanosome membrane (GO:0033162)melanosome membrane (GO:0033162)membrane (GO:0016020)mitochondrial envelope (GO:0005740)mitochondrial outer membrane (GO:0005741)mitochondrial outer membrane (GO:0005741)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)multivesicular body membrane (GO:0032585)multivesicular body membrane (GO:0032585)plasma membrane (GO:0005886)plasma membrane (GO:0005886)porphyrin-containing compound biosynthetic process (GO:0006779)porphyrin-containing compound metabolic process (GO:0006778)porphyrin-containing compound metabolic process (GO:0006778)porphyrin-containing compound metabolic process (GO:0006778)skin development (GO:0043588)tetrapyrrole binding (GO:0046906)tetrapyrrole metabolic process (GO:0033013)transmembrane transport (GO:0055085)transmembrane transport (GO:0055085)vacuolar membrane (GO:0005774)
Expression (TPM)
ABCB6 — as a Regulated Gene

TFs regulating ABCB6 0 TFs

Transcription factors with Perturb-seq knockdown data for ABCB6. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ABCB6 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to ABCB6

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ABCB6, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr2:218,959,145–218,960,352 258.9 kb Distal (>10kb) Multiome 416
chr2:218,962,902–218,964,278 255.2 kb Distal (>10kb) Multiome 768
chr2:218,979,814–218,980,492 238.3 kb Distal (>10kb) Multiome 499
chr2:218,984,382–218,985,013 233.8 kb Distal (>10kb) Multiome 126
chr2:218,992,930–218,994,312 224.9 kb Distal (>10kb) Multiome 265
chr2:218,995,885–218,998,018 222.2 kb Distal (>10kb) Multiome 534
chr2:218,998,611–219,003,562 216.4 kb Distal (>10kb) Multiome 941
chr2:219,057,853–219,058,462 160.3 kb Distal (>10kb) Multiome 469
chr2:219,060,260–219,061,256 157.6 kb Distal (>10kb) Multiome 240
chr2:219,159,910–219,161,297 57.9 kb Distal (>10kb) Multiome 901
chr2:219,176,168–219,177,450 41.6 kb Distal (>10kb) Multiome HiCAR 999
chr2:219,177,596–219,178,930 40.2 kb Distal (>10kb) Multiome HiCAR 930
chr2:219,206,194–219,207,456 11.6 kb Distal (>10kb) Multiome 861
chr2:219,217,908–219,219,751 508 bp At TSS Multiome 1058
chr2:219,228,940–219,230,470 11.2 kb Distal (>10kb) Multiome 914
chr2:219,245,074–219,245,804 27.0 kb Distal (>10kb) Multiome 891
chr2:219,252,908–219,254,656 35.5 kb Distal (>10kb) Multiome 808
chr2:219,277,516–219,280,537 60.9 kb Distal (>10kb) Multiome 1073
chr2:219,294,524–219,295,391 76.5 kb Distal (>10kb) Multiome HiCAR 892
chr2:219,308,224–219,309,089 89.9 kb Distal (>10kb) Multiome 742
chr2:219,386,994–219,389,117 169.8 kb Distal (>10kb) Multiome 911
chr2:219,402,761–219,403,203 184.5 kb Distal (>10kb) Multiome 234
chr2:219,418,154–219,419,089 200.2 kb Distal (>10kb) Multiome 147
chr2:219,433,920–219,435,459 215.7 kb Distal (>10kb) Multiome 315
chr2:219,441,439–219,442,557 223.5 kb Distal (>10kb) Multiome 338
chr2:219,447,946–219,449,531 230.3 kb Distal (>10kb) Multiome 244
chr2:219,476,330–219,477,528 258.3 kb Distal (>10kb) Multiome 373
chr2:219,484,139–219,485,299 266.4 kb Distal (>10kb) Multiome 146
chr2:219,497,658–219,499,313 280.2 kb Distal (>10kb) Multiome 907
chr2:219,506,707–219,507,641 288.6 kb Distal (>10kb) Multiome 205
chr2:219,509,036–219,510,612 291.7 kb Distal (>10kb) Multiome 614

Genome Browser

Genomic view of the ABCB6 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr2:218,949,145 – 219,520,612
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq
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