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Gene

B9D1

B9 domain containing 1

Summary

Cytogenetic location
17p11.2
Coordinates
Chromosome 17: 19,343,175–19,362,723 (GRCh38)
Exons
7 exons across 19.5 kb
Protein
204 amino acids
Inheritance
Autosomal recessive
Also known as
B9, EPPB9, MKS9, MKSR-1
MANE Select transcript
ENST00000261499.11NM_015681.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Joubert Syndrome And Related Disorders

    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • 1 GenCC submitter rates it definitive or strong

  • Meckel Syndrome

    • Autosomal recessive

      A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How B9D1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where B9D1 sits. B9D1 and 14 genes near it on chromosome 17, from 18,852,949 to 19,852,948.Chromosome 1717p11.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.319 Mb19.2 Mb19.4 Mb19.6 Mb19.8 MbPRPSAP2: 18,840,085–18,931,287, forward strandPRPSAP2SLC5A10: 18,949,746–19,022,595, forward strandSLC5A10SACK1G: 18,968,789–19,004,839, reverse strandSACK1GGRAP: 19,020,656–19,047,143, reverse strandGRAPGRAPL: 19,127,535–19,162,274, forward strandGRAPLEPN2: 19,214,837–19,336,715, forward strandEPN2B9D1: 19,343,175–19,362,723, reverse strandB9D1MAPK7: 19,377,721–19,383,544, forward strandMAPK7MFAP4: 19,383,431–19,387,203, reverse strandMFAP4RNF112: 19,410,959–19,417,281, forward strandRNF112SLC47A1: 19,495,385–19,579,044, forward strandSLC47A1ALDH3A2: 19,647,291–19,685,881, forward strandALDH3A2SLC47A2: 19,677,390–19,718,979, reverse strandSLC47A2ALDH3A1: 19,737,984–19,748,943, reverse strandALDH3A1ULK2: 19,770,829–19,867,965, reverse strandULK2Diagram of B9D1: 7 exons on the reverse strand of chromosome 17Exon 6: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 7: 19,343,175–19,343,461, 287 basesExon 6: 19,343,790–19,343,857, 68 basesExon 5: 19,347,269–19,347,331, 63 basesExon 4: 19,347,784–19,347,880, 97 basesExon 3: 19,357,840–19,357,951, 112 basesExon 2: 19,360,320–19,360,388, 69 basesExon 1: 19,362,507–19,362,723, 217 bases76543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.9 kb of the gene's 19.5 kb; 615 of those bases code for the protein.

How a genome test reads B9D1

14

positions in B9D1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 19.5 kb of B9D1, introns included, not only the 0.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). B9D1 gene: B9 domain containing 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/b9d1

Vancouver

Dante Labs. B9D1 gene: B9 domain containing 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/b9d1

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