CRISPLD2 - cysteine rich secretory protein LCCL domain containing 2 Gene

Also Known as LGL1; CRISP11; LCRISP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83716

About CRISPLD2

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:84,819,985-84,909,508 (from NCBI)

This gene has 11 transcripts (splice variants), 254 orthologues and 13 paralogues. Broad expression in gall bladder (RPKM 67.9), placenta (RPKM 54.3) and 20 other tissues.

Summary

Predicted to enable glycosaminoglycan binding activity. Involved in face morphogenesis. Located in transport vesicle. [provided by Alliance of Genome Resources, Apr 2022]

CRISPLD2 Products (1)

mRNA Protein Name
NM_031476.4 NP_113664.1 cysteine-rich secretory protein LCCL domain-containing 2 precursor
Biological Process GO Annotation Evidence References Source
involved in face morphogenesis IMP
IMP: Inferred from mutant phenotype
21254358 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRISPLD2 Protein Structure

CAP

CAP: Cysteine-rich secretory protein family (62 - 200)

LCCL

LCCL: LCCL domain (288 - 379)

LCCL

LCCL: LCCL domain (389 - 483)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 497 a.a.
Protein Preferred Names Protein Names

cysteine-rich secretory protein LCCL domain-containing 2

  • CRISP-11

Related Diseases

Diseases Alias
Arthrogryposis, Distal, Type 6
  • Distal Arthrogryposis Type 6

  • DA6

  • Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome

  • Arthrogryposis And Sensorineural Deafness

  • Familial Hand Abnormality And Sensori-Neural Deafness

  • Arthrogryposis-Like Hand Anomaly And Sensorineural Deafness

  • Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss Syndrome

Cleft Lip
  • Cheiloschisis

  • Labium Leporinum

  • Cleft Lip, Unilateral, Complete

  • Complete Unilateral Cleft Lip

  • Hare Lip

  • Congenital Fissure Of Lip

  • Isolated Cleft Lip

  • Cleft Lip Without Cleft Palate

  • Cleft Lip Without Cleft Palate, Unilateral

  • Isolated Cleft Lip, Unilateral

  • Cleft Lip Without Cleft Palate, Bilateral

  • Isolated Cleft Lip, Bilateral

Orofacial Cleft 15
  • OFC15

  • Non-Syndromic Orofacial Cleft 15

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Van Der Woude Syndrome
  • Lip-Pit Syndrome

  • Vws

  • Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

  • Vdws

  • Lps

  • Lip Pit Syndrome

  • Cleft Lip/Palate With Mucous Cysts Of Lower Lip

  • Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Orofacial Cleft
  • Cleft, Orofacial

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CRISPLD2 RGD RGD:620860
Canis familiaris CRISPLD2 VGNC VGNC:39618
Bos taurus CRISPLD2 VGNC VGNC:27715
Mus musculus CRISPLD2 MGD MGI:1926142
Macaca mulatta CRISPLD2 VGNC VGNC:81379
Felis catus CRISPLD2 VGNC VGNC:97389
Others CRISPLD2 NCBI